|Institutional Source||Beutler Lab|
|Gene Name||calpain 2|
|Synonyms||Capa-2, Capa2, m-calpain|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6800 (G1)|
|Chromosomal Location||182467260-182517608 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 182481480 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 499 (I499N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068895 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068505]|
|Predicted Effect||probably damaging
AA Change: I499N
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: I499N
|Coding Region Coverage||
|Validation Efficiency||97% (66/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to complete prenatal lethality. Mice homozygous for one null allele display placental dysfunction, thin ventricular walls, and peripheral vessel failure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Capn2||
(F):5'- AACTGGACTGCAAGCCACTC -3'
(R):5'- ACCATCAGCTAACAGGGCAG -3'
(F):5'- CCAACTTAAGATGTCCTGAGTGGC -3'
(R):5'- GCTAACAGGGCAGACCAACATC -3'