Rgs9 - SNV Details



 Human Rare Diseases 
Bradyopsia

 Gene Information 
Gene Name Rgs9
Gene Description regulator of G-protein signaling 9 [Source:MGI Symbol;Acc:MGI:1338824]
MGI phenotype Mice homozygous for a targeted null mutation are viable and fertile; however, relative to wild-type, homozygous null photoreceptors display abnormally retarded recovery of their light responses, and slowed rates of GTP hydrolysis by transducin.
Uniprot Name
CCDS Name
Gene GO
response to estrogen stimulus; intracellular signal transduction; nervous system development; termination of G-protein coupled receptor signaling pathway; cytoplasm; regulation of G-protein coupled receptor protein signaling pathway; positive regulation of GTPase activity; heterotrimeric G-protein complex; dopamine receptor signaling pathway; GTPase activator activity; nucleus; visual perception; G-protein coupled receptor signaling pathway; protein complex binding; plasma membrane; signal transducer activity
Homolog in other species RGS9
Omim http://omim.org/entry/607814
Immgen Expression
MEDIAN
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020599
Chromosome 11
Coordinate 109,225,652     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 18
Allele Frequency
T:R0.39
C:V0.61
Amino Acid Change S->G (Serine -> Glycine)
Sample ID IGL02479
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved