Exoc2 - SNV Details



 Gene Information 
Gene Name Exoc2
Old Gene Names for Exoc2 Sec5l1 , 2410030i24rik , Ai648199
Gene Description exocyst complex component 2 [Source:MGI Symbol;Acc:MGI:1913732]
Uniprot Name
CCDS Name
Gene GO
exocyst; protein transport; positive regulation of exocytosis; protein binding; Ral GTPase binding; exocytosis; protein N-terminus binding
Homolog in other species EXOC2
Immgen Expression
HIGH
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021357
Chromosome 13
Coordinate 30,906,799     (Assembly: GRCm38)    
Ref Base A
Codon Change cTc/cCc
Var Base G
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.56
G:V0.44
Amino Acid Position 274
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL01839
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved