|Institutional Source||Beutler Lab|
|Gene Name||calcineurin-like EF hand protein 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.326)|
|Stock #||R4478 (G1)|
|Chromosomal Location||122219496-122222824 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 122220918 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 97 (D97G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033152 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033152]|
|Predicted Effect||probably benign
AA Change: D97G
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: D97G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0611|
|Coding Region Coverage||
|Validation Efficiency||94% (46/49)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chp2||
(F):5'- CCAACGGGTGAAGTCTCTACTG -3'
(R):5'- ATCCCGATCCAGATCATAGAGC -3'
(F):5'- GTGAAGTCTCTACTGGCTGACC -3'
(R):5'- TCATAGAGCTGAAATGCAACTGG -3'