Arhgef2 - SNV Details



 Gene Information 
Gene Name Arhgef2
Old Gene Names for Arhgef2 Aa408978 , Lbcl1
Gene Description rho/rac guanine nucleotide exchange factor (GEF) 2 [Source:MGI Symbol;Acc:MGI:103264]
Uniprot Name
CCDS Name
Gene GO
tight junction; cell division; dendritic shaft; intracellular signal transduction; establishment of mitotic spindle orientation; mitosis; metal ion binding; positive regulation of NF-kappaB transcription factor activity; Rac guanyl-nucleotide exchange factor activity; cell morphogenesis; intracellular; microtubule; microtubule binding; negative regulation of neurogenesis; Rho guanyl-nucleotide exchange factor activity; protein binding; neuronal cell body; actin filament organization; spindle; negative regulation of microtubule depolymerization; Rho GTPase binding; regulation of Rho protein signal transduction; ruffle membrane; phospholipid binding; Golgi apparatus; Rac GTPase binding
Homolog in other species ARHGEF2
Omim http://omim.org/entry/607560
Immgen Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028059
Chromosome 3
Coordinate 88,631,919     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtg/Atg
Var Base A
Zygosity Heterozygous
Read Depth 17
Allele Frequency
G:R0.35
A:V0.65
Amino Acid Position 58
Amino Acid Change V->M (Valine -> Methionine)
Sample ID IGL01913
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.02
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000134840:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Protein kinase C-like, phorbol ester/diacylglycerol binding Prot_Kinase_C-like_PE/DAG-bd IPR002219 ENSMUSP00000134840 Prosite_profiles 24
71 Description available Search pathways
Protein kinase C-like, phorbol ester/diacylglycerol binding Prot_Kinase_C-like_PE/DAG-bd IPR002219 ENSMUSP00000134840 Smart 25
71 Description available Search pathways

 Availability Details 
Availability Cryopreserved