Rpgr - SNV Details



 Human Rare Diseases 
Primary ciliary dyskinesia - retinitis pigmentosa
Retinitis pigmentosa
Achromatopsia
Primary ciliary dyskinesia
Cone rod dystrophy

 Gene Information 
Gene Name Rpgr
Old Gene Names for Rpgr Rp3h
Gene Description retinitis pigmentosa GTPase regulator [Source:MGI Symbol;Acc:MGI:1344037]
MGI phenotype Homo- and hemizygotes for an X-linked, targeted, null mutation exhibit ectopic placement of cone opsins, reduced levels of rhodopsin in rod cells, and partial degeneration of both cone and rod photoreceptors by 2-6 months of age.
Uniprot Name
CCDS Name
Gene GO
Golgi apparatus
cilium
copper ion binding
cytochrome-c oxidase activity
cytoplasm
electron carrier activity
electron transport chain
eye photoreceptor cell development
guanyl-nucleotide exchange factor activity
integral to membrane
protein binding
Homolog in other species RPGR
Omim http://omim.org/entry/312610
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
LOW
MEDIAN
LOW/MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031174
Chromosome X
Coordinate 10,208,709     (Assembly: GRCm38)    
Ref Base T
Codon Change Atc/Gtc
Var Base C
Zygosity Heterozygous
Read Depth 31
Allele Frequency
T:0.65
C:0.36
Amino Acid Position 138
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL00840
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.04
Polyphen Prediction Benign
Sift Score 0.65
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000111196:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Regulator of chromosome condensation, RCC1 Reg_chr_condens IPR000408 ENSMUSP00000111196 Pfam 101
148 Description available Search pathways
Regulator of chromosome condensation, RCC1 Reg_chr_condens IPR000408 ENSMUSP00000111196 Prosite_profiles 102
151 Description available Search pathways
Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II RCC1/BLIP-II IPR009091 ENSMUSP00000111196 Superfamily 2
314 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved