Prex2 - SNV Details



 Gene Information 
Gene Name Prex2
Old Gene Names for Prex2 C030045d06rik , 6230420n16rik , Ai316880 , Ai553603 , Depdc2
Gene Description phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 [Source:MGI Symbol;Acc:MGI:1923385]
MGI phenotype Mice homozygous for a gene trapped allele exhibit abnormal Purkinje cell dendrite morphology and a mild motor coordination defect that progressively worsens with age and is more pronounced in females than in males.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; Rac guanyl-nucleotide exchange factor activity; intracellular; Rho guanyl-nucleotide exchange factor activity; protein binding; cellular_component; Rac GTPase activator activity; regulation of Rho protein signal transduction; G-protein coupled receptor signaling pathway; positive regulation of Rac GTPase activity; phospholipid binding
Homolog in other species PREX2
Omim http://omim.org/entry/612139
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000048960
Chromosome 1
Coordinate 11,186,741     (Assembly: GRCm38)    
Ref Base C
Codon Change Cag/Tag
Var Base T
Zygosity Heterozygous
Read Depth 12
Allele Frequency
C:R0.58
T:V0.42
Amino Acid Position 1226
Amino Acid Change Q->Stop (Glutamine -> Stop)
Sample ID IGL01533
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved