Rapgef1 - SNV Details



 Gene Information 
Gene Name Rapgef1
Old Gene Names for Rapgef1 4932418o06rik , Grf2
Gene Description Rap guanine nucleotide exchange factor (GEF) 1 [Source:MGI Symbol;Acc:MGI:104580]
MGI phenotype Mice homozygous for a gene trap allele exhibit embryonic lethality, altered neuroepithelium morphology, embryonic and extra-embryonic vascular defects, and reduced cell migration and adhesion.
Uniprot Name
CCDS Name
Gene GO
blood vessel development; platelet-derived growth factor receptor signaling pathway; cellular response to cAMP; early endosome; regulation of GTPase activity; negative regulation of neural precursor cell proliferation; establishment of endothelial barrier; regulation of small GTPase mediated signal transduction; negative regulation of canonical Wnt signaling pathway; positive regulation of neuron projection development; Rap guanyl-nucleotide exchange factor activity; intracellular; positive regulation of signal transduction; cellular response to nerve growth factor stimulus; nerve growth factor signaling pathway; SH3/SH2 adaptor activity; small GTPase mediated signal transduction; protein binding; single organismal cell-cell adhesion; guanyl-nucleotide exchange factor activity; Rap protein signal transduction; negative regulation of protein kinase B signaling; regulation of cell junction assembly; negative regulation of ERK1 and ERK2 cascade; signal transducer activity; positive regulation of Rap GTPase activity; negative regulation of Ras protein signal transduction
Homolog in other species RAPGEF1
Omim http://omim.org/entry/600303
Immgen Expression
HIGH
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039844
Chromosome 2
Coordinate 29,722,269     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:R0.54
G:V0.46
Amino Acid Change S->G (Serine -> Glycine)
Sample ID IGL00156
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved