|Institutional Source||Beutler Lab|
|Gene Name||chloride channel accessory 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8077 (G1)|
|Chromosomal Location||145070263-145099443 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 145071527 bp|
|Amino Acid Change||Valine to Alanine at position 861 (V861A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036029 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040465] [ENSMUST00000198993]|
|Predicted Effect||possibly damaging
AA Change: V861A
PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: V861A
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: This gene encodes a member of the calcium-activated chloride channel regulator (CLCR) family of proteins. Members of this family regulate the transport of chloride across the plasma membrane. Expression of this gene is upregulated by the tumor suppressor protein p53 in response to DNA damage. Mice lacking a functional copy of this gene exhibit increased liver weight and hepatocyte hypertrophy. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit increases in liver weight to body weight ratio and hepatocyte hypertrophy; one incidence of multifocal hepatic necrosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Clca2||
(F):5'- TGCTACAACCATAATAAGGCAAAGG -3'
(R):5'- AAATTGATCATACGCTCCTGTGTG -3'
(F):5'- GGATTGCTATCAAACCTACTGTTG -3'
(R):5'- ACGCTCCTGTGTGTATTTTTAATTTC -3'