Incidental Mutation 'R2228:Capn6'
ID 239892
Institutional Source Beutler Lab
Gene Symbol Capn6
Ensembl Gene ENSMUSG00000067276
Gene Name calpain 6
Synonyms
MMRRC Submission 040229-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2228 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 142585232-142610408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 142587785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 498 (T498P)
Ref Sequence ENSEMBL: ENSMUSP00000084573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087316]
AlphaFold O35646
Predicted Effect possibly damaging
Transcript: ENSMUST00000087316
AA Change: T498P

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000084573
Gene: ENSMUSG00000067276
AA Change: T498P

DomainStartEndE-ValueType
CysPc 8 351 1.53e-205 SMART
calpain_III 350 495 1.68e-56 SMART
C2 517 620 3.4e-9 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,559,935 (GRCm39) T242A probably benign Het
Adam24 A T 8: 41,133,404 (GRCm39) I291L probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adcy8 C A 15: 64,694,056 (GRCm39) R407L possibly damaging Het
Aldh3b2 C T 19: 4,031,133 (GRCm39) P461S probably benign Het
Araf T C X: 20,717,912 (GRCm39) F144L probably benign Het
Atp11b G T 3: 35,861,091 (GRCm39) D193Y probably damaging Het
Atp6v1b2 C A 8: 69,555,411 (GRCm39) probably null Het
Bclaf1 T A 10: 20,215,624 (GRCm39) probably benign Het
Cadps A G 14: 12,465,935 (GRCm38) Y987H probably benign Het
Ccdc153 T A 9: 44,154,314 (GRCm39) L47Q probably damaging Het
Ccdc180 G T 4: 45,948,856 (GRCm39) probably null Het
Cep162 G T 9: 87,126,384 (GRCm39) T176K probably benign Het
Cpsf2 A G 12: 101,956,088 (GRCm39) D297G probably benign Het
Entpd8 T C 2: 24,975,028 (GRCm39) M453T probably damaging Het
Eprs1 T A 1: 185,099,734 (GRCm39) L18Q probably damaging Het
Fem1b G T 9: 62,704,020 (GRCm39) C413* probably null Het
Flrt1 T A 19: 7,072,723 (GRCm39) D608V probably damaging Het
Fstl5 C A 3: 76,389,659 (GRCm39) N285K probably damaging Het
Golga1 T C 2: 38,913,183 (GRCm39) D543G probably benign Het
Hivep2 A G 10: 14,004,107 (GRCm39) H235R probably damaging Het
Htr2c G C X: 145,977,186 (GRCm39) W325C probably damaging Het
Htr2c G T X: 145,977,188 (GRCm39) C326F probably damaging Het
Ifit1bl2 G T 19: 34,596,630 (GRCm39) L329M possibly damaging Het
Igsf9b T C 9: 27,244,792 (GRCm39) S920P probably damaging Het
Macroh2a1 C T 13: 56,232,075 (GRCm39) G235S probably damaging Het
Mcm8 T A 2: 132,662,041 (GRCm39) I125K possibly damaging Het
Micall1 C T 15: 79,014,036 (GRCm39) R644W probably damaging Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myo9a A G 9: 59,801,463 (GRCm39) E1887G probably benign Het
Nbn A G 4: 15,970,904 (GRCm39) T296A probably benign Het
Nckap1l T C 15: 103,364,361 (GRCm39) probably null Het
Neb T C 2: 52,123,007 (GRCm39) R3734G probably benign Het
Nup93 C T 8: 95,030,819 (GRCm39) T305I probably benign Het
Or5bw2 A T 7: 6,573,802 (GRCm39) M271L probably benign Het
P2ry4 A G X: 99,637,553 (GRCm39) L115P probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r26 T C 2: 28,343,798 (GRCm39) F1143L possibly damaging Het
Ppp1r3c C A 19: 36,711,098 (GRCm39) R224L probably benign Het
Ptafr T G 4: 132,306,691 (GRCm39) I27R possibly damaging Het
Pwwp2b T C 7: 138,835,104 (GRCm39) C182R probably damaging Het
Reln A G 5: 22,192,076 (GRCm39) F1455L possibly damaging Het
Rufy1 C T 11: 50,288,611 (GRCm39) probably null Het
Samd9l T C 6: 3,376,910 (GRCm39) H117R probably benign Het
Sfxn4 C T 19: 60,839,458 (GRCm39) G200E probably damaging Het
Sipa1l3 T A 7: 29,077,364 (GRCm39) K803* probably null Het
Smim23 C A 11: 32,771,870 (GRCm39) Q65H probably damaging Het
Spata18 A T 5: 73,824,244 (GRCm39) I156L possibly damaging Het
Sppl2b G A 10: 80,701,451 (GRCm39) V389M probably damaging Het
Srbd1 T C 17: 86,292,651 (GRCm39) I973V probably damaging Het
Ssx2ip C T 3: 146,123,531 (GRCm39) P10L probably damaging Het
Taf2 A C 15: 54,928,042 (GRCm39) D120E possibly damaging Het
Tanc1 T C 2: 59,555,068 (GRCm39) L42S probably benign Het
Tex15 C A 8: 34,061,265 (GRCm39) H232N probably benign Het
Tg A T 15: 66,545,860 (GRCm39) Q194L probably damaging Het
Tnfrsf22 C T 7: 143,198,513 (GRCm39) probably null Het
Tro A T X: 149,438,477 (GRCm39) M60K probably benign Het
Ttc38 G A 15: 85,728,704 (GRCm39) V219I probably benign Het
U2af2 T C 7: 5,078,672 (GRCm39) I417T probably damaging Het
Ube2r2 C T 4: 41,174,044 (GRCm39) H61Y probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r113 C T 7: 20,521,832 (GRCm39) S208F probably damaging Het
Wdr35 A G 12: 9,024,955 (GRCm39) K16E possibly damaging Het
Wwp1 A T 4: 19,641,745 (GRCm39) Y437N probably damaging Het
Zdhhc4 A C 5: 143,306,162 (GRCm39) W189G probably damaging Het
Zfp512 A T 5: 31,622,919 (GRCm39) K73N 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
R4037:Capn6 UTSW X 142,590,859 (GRCm39) missense probably damaging 1.00
Z1176:Capn6 UTSW X 142,593,903 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTCCCTAGAGAGGCAAGAAG -3'
(R):5'- ACTCTGGCCTTGAAGTTCTG -3'

Sequencing Primer
(F):5'- CTCTATGAGAGCTGAGAATATCAACG -3'
(R):5'- GGCCTTGAAGTTCTGTAAACC -3'
Posted On 2014-10-15