Rapgef2 - SNV Details



 Gene Information 
Gene Name Rapgef2
Old Gene Names for Rapgef2 5830453m24rik , Pdzgef1
Gene Description Rap guanine nucleotide exchange factor (GEF) 2 [Source:MGI Symbol;Acc:MGI:2659071]
MGI phenotype Mice homozygous for a knock-out allele exhibit embryonic lethality between E11.5 and E12.5 associated with impaired embryo hematopoeisis.
Uniprot Name
CCDS Name
Gene GO
Rap GTPase activator activity; regulation of synaptic plasticity; membrane; regulation of small GTPase mediated signal transduction; signal transduction; Rap guanyl-nucleotide exchange factor activity; intracellular; small GTPase mediated signal transduction; protein binding; guanyl-nucleotide exchange factor activity; plasma membrane; protein kinase binding; positive regulation of Rap GTPase activity
Homolog in other species RAPGEF2
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062232
Chromosome 3
Coordinate 79,068,937     (Assembly: GRCm38)    
Ref Base T
Codon Change Atg/Gtg
Var Base C
Zygosity Heterozygous
Read Depth 101
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 1371
Amino Acid Change M->V (Methionine -> Valine)
Sample ID IGL01448
Median Base Quality 36
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.37
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved