|Institutional Source||Beutler Lab|
|Gene Name||calpain 9|
|Is this an essential gene?||Probably non essential (E-score: 0.068)|
|Stock #||R5734 (G1)|
|Chromosomal Location||124576111-124618731 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 124605844 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 474 (E474G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000090717 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000093033]|
|Predicted Effect||probably damaging
AA Change: E474G
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: E474G
|Meta Mutation Damage Score||0.302|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
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 expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to ethanol-induced gastric mucosa injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Capn9||
(F):5'- GCGTGAAGAACAAAGTCACATC -3'
(R):5'- TCTGAAGATCTCGGGGAAGC -3'
(F):5'- GTGAAGAACAAAGTCACATCTCCCTG -3'
(R):5'- GGGAAGCAAGCCTCTCTTC -3'