Incidental Mutation 'R4037:Capn6'
ID 313778
Institutional Source Beutler Lab
Gene Symbol Capn6
Ensembl Gene ENSMUSG00000067276
Gene Name calpain 6
Synonyms
MMRRC Submission 040964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R4037 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 142585232-142610408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142590859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 291 (W291R)
Ref Sequence ENSEMBL: ENSMUSP00000084573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087316]
AlphaFold O35646
Predicted Effect probably damaging
Transcript: ENSMUST00000087316
AA Change: W291R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084573
Gene: ENSMUSG00000067276
AA Change: W291R

DomainStartEndE-ValueType
CysPc 8 351 1.53e-205 SMART
calpain_III 350 495 1.68e-56 SMART
C2 517 620 3.4e-9 SMART
Meta Mutation Damage Score 0.9691 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 93% (37/40)
MGI Phenotype 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
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,597,319 (GRCm39) F881L probably benign Het
Cdc27 T C 11: 104,398,033 (GRCm39) I776V probably damaging Het
Cpne5 C T 17: 29,378,087 (GRCm39) R564H unknown Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Dcc A G 18: 72,483,468 (GRCm39) L17P possibly damaging Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Eef2kmt A T 16: 5,063,135 (GRCm39) V335D probably damaging Het
Efcc1 C T 6: 87,708,490 (GRCm39) Q206* probably null Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gpr137c C A 14: 45,457,687 (GRCm39) L80I probably damaging Het
Hcls1 A G 16: 36,776,987 (GRCm39) T226A possibly damaging Het
Hmcn1 T A 1: 150,648,253 (GRCm39) T678S probably benign Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Hspb8 A G 5: 116,547,403 (GRCm39) V193A probably benign Het
Man1c1 C T 4: 134,320,650 (GRCm39) D217N probably damaging Het
Metrn T C 17: 26,013,984 (GRCm39) T281A probably benign Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Ncoa6 G A 2: 155,249,290 (GRCm39) S1338L probably damaging Het
Ogfrl1 T C 1: 23,418,045 (GRCm39) probably benign Het
Or4a73 C T 2: 89,421,379 (GRCm39) V27I probably benign Het
Or4c113 A G 2: 88,885,032 (GRCm39) V246A probably damaging Het
Pax4 A G 6: 28,443,882 (GRCm39) I241T probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Rims1 T C 1: 22,514,793 (GRCm39) S537G probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ruvbl1 T A 6: 88,450,117 (GRCm39) M96K probably damaging Het
Sdk2 T C 11: 113,685,881 (GRCm39) I1880V probably damaging Het
Sis T C 3: 72,835,935 (GRCm39) N885D probably benign Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc36a2 T C 11: 55,055,101 (GRCm39) D318G probably benign Het
Slc38a4 G A 15: 96,894,923 (GRCm39) A531V probably benign Het
Stat3 C T 11: 100,783,951 (GRCm39) G658R probably damaging Het
Tnfrsf11a A G 1: 105,755,464 (GRCm39) probably null Het
Tnk2 G T 16: 32,489,614 (GRCm39) A298S probably damaging Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Wipf3 G A 6: 54,458,813 (GRCm39) G56D probably damaging Het
Other mutations in Capn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Capn6 APN X 142,590,246 (GRCm39) missense probably damaging 1.00
IGL02486:Capn6 APN X 142,587,673 (GRCm39) missense probably benign 0.00
R2228:Capn6 UTSW X 142,587,785 (GRCm39) missense possibly damaging 0.68
Z1176:Capn6 UTSW X 142,593,903 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAATGCACAACGACTAGGC -3'
(R):5'- ATCATACTGGGATGAACCAACC -3'

Sequencing Primer
(F):5'- GCTTACTTTATTTTATTTCTGGCTCG -3'
(R):5'- ATTTGCTATCAGTCTCCCAGCCAG -3'
Posted On 2015-04-30