|Institutional Source||Beutler Lab|
|Gene Name||calpain 10|
|Is this an essential gene?||Probably non essential (E-score: 0.129)|
|Stock #||R7140 (G1)|
|Chromosomal Location||92934376-92947941 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 92945271 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 573 (V573A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027488 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027488] [ENSMUST00000117814] [ENSMUST00000152983]|
AA Change: V573A
PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: V573A
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||99% (70/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains represent a 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 catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to ryanodine- and palmitate-induced pancreatic apoptosis. Mice homozygous for a different knock-out allele exhibit increased adiposity, body and organ weights, and leptin serum levels on background containing LG/J. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Capn10||
(F):5'- CTGTGTATCCTCCTGCAGTG -3'
(R):5'- CTCAGACAGGGTATTTGGAGTGAG -3'
(F):5'- AGGGTGCATCGCCTGGAAC -3'
(R):5'- GGTGAGCTACCCCAAATGAC -3'