ENSMUSG00000031174


Mus musculus

Features
Gene ID: ENSMUSG00000031174
  
Biological name :Rpgr
  
Synonyms : retinitis pigmentosa GTPase regulator / Rpgr
  
Possible biological names infered from orthology : Q92834
  
Species: Mus musculus
  
Chr. number: X
Strand: -1
Band: A1.1
Gene start: 10073621
Gene end: 10216920
  
Corresponding Affymetrix probe sets: 10603598 (MoGene1.0st)   1427467_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000111194
Ensembl peptide - ENSMUSP00000073106
Ensembl peptide - ENSMUSP00000111195
Ensembl peptide - ENSMUSP00000111196
Ensembl peptide - ENSMUSP00000037358
Ensembl peptide - ENSMUSP00000072229
NCBI entrez gene - 19893     See in Manteia.
MGI - MGI:1344037
RefSeq - NM_001177951
RefSeq - NM_001177950
RefSeq - NM_001177952
RefSeq - NM_001177953
RefSeq - NM_011285
RefSeq Peptide - NP_001171424
RefSeq Peptide - NP_001171421
RefSeq Peptide - NP_001171422
RefSeq Peptide - NP_035415
RefSeq Peptide - NP_001171423
swissprot - Q3UTY5
swissprot - A0A067XG46
swissprot - Q3UWJ5
swissprot - Q8CDM3
swissprot - A2ADP5
swissprot - A2ADP2
Ensembl - ENSMUSG00000031174
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rpgraENSDARG00000056617Danio rerio
 rpgrbENSDARG00000057074Danio rerio
 RPGRENSGALG00000036284Gallus gallus
 RPGRENSG00000156313Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q99LJ7 / Rcbtb2 / regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 / O95199* / RCC1 and BTB domain containing protein 2*ENSMUSG0000002210613
Rcbtb1 / regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 / Q8NDN9* / RCC1 and BTB domain containing protein 1*ENSMUSG0000003546913
Rcc1 / Q8VE37 / regulator of chromosome condensation 1 / P18754*ENSMUSG0000002889611
Rcc2 / Q8BK67 / Protein RCC2 / Q9P258* / regulator of chromosome condensation 2*ENSMUSG0000004094511
Rcc1l / Q9CYF5 / reculator of chromosome condensation 1 like / Q96I51* / RCC1 like*ENSMUSG0000006197911
Q80YD6 / Sergef / Secretion-regulating guanine nucleotide exchange factor / Q9UGK8*ENSMUSG0000003083910


Protein motifs (from Interpro)
Interpro ID Name
 IPR000408  Regulator of chromosome condensation, RCC1
 IPR009091  Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
 IPR016186  C-type lectin-like/link domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
No match


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001006 abnormal cone morphology "structural or developmental anomaly of the retinal receptors that give rise to color vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

Allelic Composition: Tg(CAG-Rpgr)mRDefWrght/0,Rpgrtm1Tili/Rpgrtm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Rpgrtm1Tili/Rpgrtm1Tili,Tg(CMV-Rpgr)1Tili/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: RpgrRd9/Rpgr+
Genetic Background: C57BL/6-RpgrRd9

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Rpgrtm1Tili/Rpgrtm1Tili,Tg(CMV-Rpgr)1Tili/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

Allelic Composition: Rpgrtm1.1Sgj/Rpgrtm1.1Sgj
Genetic Background: involves: 129 * BALB/c

Allelic Composition: Rpgrtm1.1Sgj/Y
Genetic Background: involves: 129 * BALB/c

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: C.129P2-Rpgrtm1Wbrg

 MP:0002792 abnormal retinal vascularization "malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: RpgrRd9/Rpgr+
Genetic Background: C57BL/6-RpgrRd9

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

 MP:0002864 abnormal ocular fundus morphology "malformation of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: RpgrRd9/Rpgr+
Genetic Background: C57BL/6-RpgrRd9

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

 MP:0003728 abnormal photoreceptor layer "malformation/anomalous structure of the photoreceptor layer" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ighmbp2nmd/Ighmbp2nmd
Genetic Background: CBA/J

 MP:0003730 abnormal photoreceptor inner segments "malformation/anomalous structure of the photoreceptor layer which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ighmbp2nmd/Ighmbp2nmd
Genetic Background: CBA/J

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tg(CAG-Rpgr)mRDefWrght/0,Rpgrtm1Tili/Rpgrtm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: B6.129P2-Rpgrtm1Wbrg

Allelic Composition: Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: C.129P2-Rpgrtm1Wbrg

Allelic Composition: Rpgrtm1.1Sgj/Rpgrtm1.1Sgj
Genetic Background: involves: 129 * BALB/c

Allelic Composition: Rpgrtm1.1Sgj/Y
Genetic Background: involves: 129 * BALB/c

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

Allelic Composition: Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: B6.129P2-Rpgrtm1Wbrg

Allelic Composition: Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: C.129P2-Rpgrtm1Wbrg

Allelic Composition: Rpgrtm1.1Sgj/Rpgrtm1.1Sgj
Genetic Background: involves: 129 * BALB/c

Allelic Composition: Rpgrtm1.1Sgj/Y
Genetic Background: involves: 129 * BALB/c

 MP:0004175 telangiectases "vascular lesion formed by dilation of a group of small blood vessels" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: RpgrRd9/Rpgr+
Genetic Background: C57BL/6-RpgrRd9

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: RpgrRd9/Rpgr+
Genetic Background: C57BL/6-RpgrRd9

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Rpgrtm1Tili/Rpgrtm1Tili,Tg(CMV-Rpgr)1Tili/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0008444 retinal cone cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0008446 decreased retinal cone cell number "reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: C.129P2-Rpgrtm1Wbrg

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Rpgrtm1Tili/Rpgrtm1Tili,Rpgrip1tm1Tili/Rpgrip1tm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Tg(CAG-Rpgr)mRDefWrght/0,Rpgrtm1Tili/Rpgrtm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Tg(CAG-Rpgr)mROrfWrght/0,Tg(CAG-Rpgr)mRDefWrght/0,Rpgrtm1Tili/Rpgrtm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0008451 retinal rod cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0008456 abnormal retinal rod cell outer segment morphology "any strucutral anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

Allelic Composition: Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: B6.129P2-Rpgrtm1Wbrg

Allelic Composition: Rpgrtm1.1Sgj/Rpgrtm1.1Sgj
Genetic Background: involves: 129 * BALB/c

Allelic Composition: Rpgrtm1.1Sgj/Y
Genetic Background: involves: 129 * BALB/c

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

 MP:0008582 short photoreceptor inner segment "decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tg(CAG-Rpgr)mRDefWrght/0,Rpgrtm1Tili/Rpgrtm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0008586 disorganized photoreceptor outer segment "derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tg(CAG-Rpgr)mRDefWrght/0,Rpgrtm1Tili/Rpgrtm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Tg(CAG-Rpgr)mRDefWrght/0,Rpgrtm1Tili/Rpgrtm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0012143 decreased a wave amplitude "reduction in the size (height or maximum displacement) of the a wave as measured in the electroretinogram" [MGI:csmith]
Show

Allelic Composition: RpgrRd9/Rpgr+
Genetic Background: C57BL/6-RpgrRd9

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

 MP:0012144 decreased b wave amplitude "reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram" [MGI:csmith]
Show

Allelic Composition: RpgrRd9/Rpgr+
Genetic Background: C57BL/6-RpgrRd9

Allelic Composition: RpgrRd9/Y
Genetic Background: C57BL/6-RpgrRd9

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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