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
chloride transmembrane transport; extrinsic apoptotic signaling pathway in absence of ligand; protein binding; anoikis; chloride transport; integral component of plasma membrane; 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 144,816,768     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.40
T:V0.60
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL02901
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved