Clca2 - SNV Details



 Gene Information 
Gene Name Clca2
Gene Description chloride channel calcium activated 2 [Source:MGI Symbol;Acc:MGI:1931471]
Uniprot Name
CCDS Name
Gene GO
apoptotic process; integral to plasma membrane; protein binding; chloride transport; intracellular calcium activated chloride channel activity
Omim http://omim.org/entry/604003
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028262
Chromosome 3
Coordinate 144,813,455     (Assembly: GRCm38)    
Ref Base T
Codon Change gAc/gCc
Var Base G
Zygosity Heterozygous
Read Depth 73
Allele Frequency
T:R0.49
G:V0.51
Amino Acid Position 320
Amino Acid Change D->A (Aspartic acid -> Alanine)
Sample ID IGL02066
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 60 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved