|Institutional Source||Beutler Lab|
|Gene Name||calpain 6|
|Is this an essential gene?||Probably non essential (E-score: 0.066)|
|Stock #||R4037 (G1)|
|Chromosomal Location||143802231-143827414 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 143807863 bp|
|Amino Acid Change||Tryptophan to Arginine at position 291 (W291R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084573 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087316]|
|Predicted Effect||probably damaging
AA Change: W291R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: W291R
|Meta Mutation Damage Score||0.6468|
|Coding Region Coverage||
|Validation Efficiency||93% (37/40)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]
PHENOTYPE: Female mice homozygous for a knock-out allele display advanced skeletal muscle development during embryogenesis and advanced skeletal muscle regeneration after cardiotoxin-induced degeneration. Male hemizygotes exhibit increased differentiation of primary cultured skeletal muscle cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Capn6||
(F):5'- AGAATGCACAACGACTAGGC -3'
(R):5'- ATCATACTGGGATGAACCAACC -3'
(F):5'- GCTTACTTTATTTTATTTCTGGCTCG -3'
(R):5'- ATTTGCTATCAGTCTCCCAGCCAG -3'