|Institutional Source||Beutler Lab|
|Gene Name||calpain 7|
|Is this an essential gene?||Probably essential (E-score: 0.862)|
|Stock #||R7124 (G1)|
|Chromosomal Location||31336638-31371986 bp(+) (GRCm38)|
|Type of Mutation||unclassified|
|DNA Base Change (assembly)||C to T at 31336685 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000119214 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000143472] [ENSMUST00000152182]|
|Coding Region Coverage||
|Validation Efficiency||97% (72/74)|
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 function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene frequently die before weaning. Survivors display reduced body weight. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Capn7||
(F):5'- TCCAATCCCACTGGACATTG -3'
(R):5'- GTAGTAAAACACCGCCTCAGAG -3'
(F):5'- AATCCCACTGGACATTGTTCTGG -3'
(R):5'- TCAGAGTAGCGGCCTTCGTG -3'