Prkg2 - SNV Details



 Gene Information 
Gene Name Prkg2
Old Gene Names for Prkg2 Aw212535 , Prkgr2
Gene Description protein kinase, cGMP-dependent, type II [Source:MGI Symbol;Acc:MGI:108173]
MGI phenotype Homozygous null mice exhibit dwarfism, with abnormal skull morphology and short limbs and vertebrae. Defects in axial organization of the growth plates was evident as mice aged. Digestive secretion in response to enterotoxin was reduced.
Uniprot Name
CCDS Name
Gene GO
peptidyl-serine autophosphorylation; protein kinase activity; cGMP binding; circadian regulation of gene expression; membrane; cGMP-dependent protein kinase activity; transferase activity
transferring phosphorus-containing groups; protein homodimerization activity; protein binding; protein targeting to plasma membrane; protein phosphorylation; protein tyrosine kinase activity; ATP binding; plasma membrane; circadian rhythm; protein serine/threonine kinase activity; nuclear membrane
Homolog in other species PRKG2
Omim http://omim.org/entry/601591
Immgen Expression
LOW
LOW
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029334
Chromosome 5
Coordinate 99,024,506     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 42
Allele Frequency
T:R0.50
G:V0.50
Amino Acid Change S->R (Serine -> Arginine)
Sample ID IGL02992
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability