Incidental Mutation 'R0276:Capn3'
ID 35353
Institutional Source Beutler Lab
Gene Symbol Capn3
Ensembl Gene ENSMUSG00000079110
Gene Name calpain 3
Synonyms Capa3, Lp82, Capa-3, p94
MMRRC Submission 038498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R0276 (G1)
Quality Score 110
Status Validated
Chromosome 2
Chromosomal Location 120294074-120335400 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 120318546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028748] [ENSMUST00000028749] [ENSMUST00000090028] [ENSMUST00000110716] [ENSMUST00000110719] [ENSMUST00000110721]
AlphaFold Q64691
Predicted Effect probably benign
Transcript: ENSMUST00000028748
SMART Domains Protein: ENSMUSP00000028748
Gene: ENSMUSG00000079110

DomainStartEndE-ValueType
CysPc 32 357 5.98e-199 SMART
calpain_III 360 514 4.27e-90 SMART
EFh 584 612 5.53e-4 SMART
EFh 614 642 1.8e-3 SMART
EFh 679 707 4.32e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028749
SMART Domains Protein: ENSMUSP00000028749
Gene: ENSMUSG00000079110

DomainStartEndE-ValueType
CysPc 56 425 2.09e-212 SMART
calpain_III 428 582 4.27e-90 SMART
Pfam:Calpain_u2 583 653 1.3e-31 PFAM
EFh 696 724 5.53e-4 SMART
EFh 726 754 1.8e-3 SMART
EFh 791 819 4.32e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090028
SMART Domains Protein: ENSMUSP00000087482
Gene: ENSMUSG00000079110

DomainStartEndE-ValueType
CysPc 32 357 5.98e-199 SMART
calpain_III 360 514 4.27e-90 SMART
low complexity region 585 599 N/A INTRINSIC
EFh 612 640 5.53e-4 SMART
EFh 642 670 1.8e-3 SMART
EFh 707 735 4.32e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110716
SMART Domains Protein: ENSMUSP00000106344
Gene: ENSMUSG00000079110

DomainStartEndE-ValueType
CysPc 32 405 8.38e-203 SMART
calpain_III 408 562 4.27e-90 SMART
EFh 632 660 5.53e-4 SMART
EFh 662 690 1.8e-3 SMART
EFh 727 755 4.32e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110719
SMART Domains Protein: ENSMUSP00000106347
Gene: ENSMUSG00000079110

DomainStartEndE-ValueType
CysPc 32 405 8.38e-203 SMART
calpain_III 408 562 4.27e-90 SMART
low complexity region 633 647 N/A INTRINSIC
EFh 660 688 5.53e-4 SMART
EFh 690 718 1.8e-3 SMART
EFh 755 783 4.32e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110721
SMART Domains Protein: ENSMUSP00000106349
Gene: ENSMUSG00000079110

DomainStartEndE-ValueType
CysPc 56 377 1.13e-208 SMART
calpain_III 380 534 4.27e-90 SMART
EFh 604 632 5.53e-4 SMART
EFh 634 662 1.8e-3 SMART
EFh 699 727 4.32e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151924
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.2%
  • 20x: 93.8%
Validation Efficiency 98% (101/103)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in muscle dystrophy. The psoas, soleus, and deltoid muscles are the most severely affected. The mutant allele appears to be preferentially transmitted resulting in ratio distortion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,865,772 (GRCm39) N109S possibly damaging Het
Adcy10 T A 1: 165,400,160 (GRCm39) M1523K possibly damaging Het
Agtpbp1 C T 13: 59,609,845 (GRCm39) S1095N possibly damaging Het
Ang2 C T 14: 51,432,975 (GRCm39) V136I probably damaging Het
Arhgap10 A T 8: 78,140,210 (GRCm39) M250K probably benign Het
Arhgap33 A T 7: 30,222,669 (GRCm39) W1088R probably benign Het
Arhgef15 T C 11: 68,844,298 (GRCm39) probably benign Het
Aspm T C 1: 139,406,209 (GRCm39) S1699P possibly damaging Het
Atp12a C A 14: 56,625,151 (GRCm39) D1014E probably damaging Het
Atp1a4 T A 1: 172,085,468 (GRCm39) K45M probably damaging Het
Atp8a1 A T 5: 67,944,016 (GRCm39) probably benign Het
Baiap3 A C 17: 25,462,661 (GRCm39) F1099C probably damaging Het
Bcas3 T A 11: 85,361,663 (GRCm39) probably null Het
Bms1 G A 6: 118,385,095 (GRCm39) T371M possibly damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Ccdc180 A G 4: 45,923,534 (GRCm39) D1105G probably damaging Het
Ccdc33 G T 9: 57,965,675 (GRCm39) P364Q probably damaging Het
Clstn3 A G 6: 124,408,699 (GRCm39) probably benign Het
Cntrl A T 2: 35,041,744 (GRCm39) Y619F possibly damaging Het
Col12a1 A T 9: 79,538,023 (GRCm39) Y2514* probably null Het
Cpt1b T C 15: 89,304,162 (GRCm39) H503R probably benign Het
Crb1 T A 1: 139,251,073 (GRCm39) T293S possibly damaging Het
D130043K22Rik C T 13: 25,042,028 (GRCm39) T319I possibly damaging Het
Dnaaf10 T C 11: 17,179,821 (GRCm39) I274T probably benign Het
Dzip1l G A 9: 99,543,051 (GRCm39) R502Q probably benign Het
Efcab5 A G 11: 77,020,702 (GRCm39) M673T probably damaging Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
F2rl3 A G 8: 73,489,426 (GRCm39) T218A probably benign Het
Fam135a C T 1: 24,107,045 (GRCm39) R31H probably damaging Het
Fcer2a A T 8: 3,739,811 (GRCm39) N53K possibly damaging Het
Golgb1 A C 16: 36,734,238 (GRCm39) K1162Q probably damaging Het
Gpr137b A T 13: 13,542,160 (GRCm39) probably benign Het
Haspin A T 11: 73,027,313 (GRCm39) L592Q probably damaging Het
Helq A G 5: 100,938,013 (GRCm39) F478L probably damaging Het
Iho1 A T 9: 108,305,639 (GRCm39) M11K possibly damaging Het
Il17rb T A 14: 29,726,337 (GRCm39) T84S probably damaging Het
Itga4 T C 2: 79,151,837 (GRCm39) L880P probably damaging Het
Itih5 A G 2: 10,190,375 (GRCm39) I61V possibly damaging Het
Ivl G A 3: 92,478,821 (GRCm39) L415F unknown Het
Kif2a A G 13: 107,113,158 (GRCm39) probably benign Het
Kmt2d T C 15: 98,748,192 (GRCm39) probably benign Het
Lars2 A G 9: 123,267,186 (GRCm39) probably benign Het
Lilrb4a T C 10: 51,367,677 (GRCm39) V73A probably benign Het
Lratd2 G T 15: 60,695,523 (GRCm39) Y74* probably null Het
Lrrc8a A G 2: 30,146,800 (GRCm39) D538G possibly damaging Het
Lrrk1 G A 7: 65,946,011 (GRCm39) probably benign Het
Mc2r A T 18: 68,541,203 (GRCm39) I30K possibly damaging Het
Mybbp1a C A 11: 72,340,933 (GRCm39) probably null Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ncam2 A G 16: 81,314,517 (GRCm39) probably benign Het
Nlk T C 11: 78,462,301 (GRCm39) I509V probably benign Het
Nlrp2 A T 7: 5,331,108 (GRCm39) N429K probably benign Het
Nlrp9b A G 7: 19,762,423 (GRCm39) T247A probably benign Het
Noxo1 A T 17: 24,919,136 (GRCm39) probably null Het
Or1n1b A T 2: 36,780,035 (GRCm39) M275K probably benign Het
Or2ag2b A T 7: 106,417,904 (GRCm39) I205L probably benign Het
Or3a10 A G 11: 73,935,944 (GRCm39) I52T probably damaging Het
Or4c107 T A 2: 88,789,099 (GRCm39) C96* probably null Het
Or4m1 C A 14: 50,557,636 (GRCm39) A219S probably benign Het
Oxr1 T C 15: 41,683,458 (GRCm39) S294P probably damaging Het
Pfpl A G 19: 12,406,601 (GRCm39) Y284C probably damaging Het
Pi16 A T 17: 29,545,917 (GRCm39) T232S probably benign Het
Plcxd2 A T 16: 45,830,070 (GRCm39) N50K probably benign Het
Plekhn1 T A 4: 156,312,703 (GRCm39) N52Y probably damaging Het
Prl2c5 T C 13: 13,357,634 (GRCm39) probably benign Het
Prrc2b G A 2: 32,109,666 (GRCm39) V1080I probably damaging Het
Psg28 A T 7: 18,164,321 (GRCm39) N130K probably benign Het
Psme4 C A 11: 30,761,980 (GRCm39) T440K probably damaging Het
Ptcd2 T C 13: 99,458,104 (GRCm39) K296E probably benign Het
Ptprq T C 10: 107,378,596 (GRCm39) probably null Het
Rab5b A C 10: 128,522,615 (GRCm39) probably null Het
Rft1 T A 14: 30,412,540 (GRCm39) S534T probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rsu1 A T 2: 13,174,946 (GRCm39) probably benign Het
Senp6 A G 9: 80,044,029 (GRCm39) M887V probably benign Het
Sgcz T A 8: 38,420,073 (GRCm39) M60L probably benign Het
Siglec1 G A 2: 130,925,861 (GRCm39) Q282* probably null Het
Sipa1l2 T C 8: 126,148,679 (GRCm39) T1655A probably damaging Het
Slc28a2b T A 2: 122,352,409 (GRCm39) S389T probably damaging Het
Slc43a3 G A 2: 84,768,007 (GRCm39) probably benign Het
Snx29 T C 16: 11,556,237 (GRCm39) V756A probably benign Het
Spta1 T A 1: 174,045,460 (GRCm39) H1539Q probably damaging Het
Stk3 A C 15: 35,099,615 (GRCm39) S104A probably damaging Het
Stk38 C A 17: 29,211,390 (GRCm39) probably null Het
Stx6 T C 1: 155,049,909 (GRCm39) probably benign Het
Thbs4 G A 13: 92,912,040 (GRCm39) T230I probably benign Het
Thrsp A G 7: 97,066,709 (GRCm39) M1T probably null Het
Tmem63b A T 17: 45,986,299 (GRCm39) probably benign Het
Top2a A G 11: 98,900,733 (GRCm39) probably benign Het
Tpd52l2 T C 2: 181,143,852 (GRCm39) probably null Het
Trak1 A G 9: 121,283,404 (GRCm39) E390G probably damaging Het
Trappc3 T A 4: 126,167,745 (GRCm39) D101E possibly damaging Het
Trhr A G 15: 44,060,482 (GRCm39) M1V probably null Het
Triobp T A 15: 78,857,876 (GRCm39) I1159K probably benign Het
Unc45a A G 7: 79,976,045 (GRCm39) probably benign Het
Usb1 A G 8: 96,060,085 (GRCm39) D12G probably damaging Het
Ushbp1 C T 8: 71,847,293 (GRCm39) C113Y possibly damaging Het
Vim A G 2: 13,579,670 (GRCm39) K143R probably benign Het
Vmn2r75 T C 7: 85,797,515 (GRCm39) K766R probably benign Het
Xpo5 T G 17: 46,552,433 (GRCm39) C1089G probably damaging Het
Other mutations in Capn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Capn3 APN 2 120,316,963 (GRCm39) intron probably benign
IGL00976:Capn3 APN 2 120,322,382 (GRCm39) missense possibly damaging 0.81
IGL01538:Capn3 APN 2 120,332,667 (GRCm39) splice site probably null
IGL01564:Capn3 APN 2 120,311,189 (GRCm39) missense probably damaging 1.00
IGL02527:Capn3 APN 2 120,334,966 (GRCm39) missense probably damaging 0.99
IGL02605:Capn3 APN 2 120,326,518 (GRCm39) missense probably damaging 0.98
IGL02678:Capn3 APN 2 120,333,479 (GRCm39) missense probably damaging 1.00
IGL02899:Capn3 APN 2 120,322,382 (GRCm39) missense possibly damaging 0.81
IGL03255:Capn3 APN 2 120,320,189 (GRCm39) missense probably damaging 1.00
R0053:Capn3 UTSW 2 120,322,318 (GRCm39) missense possibly damaging 0.95
R0053:Capn3 UTSW 2 120,322,318 (GRCm39) missense possibly damaging 0.95
R0096:Capn3 UTSW 2 120,333,010 (GRCm39) missense possibly damaging 0.94
R0096:Capn3 UTSW 2 120,333,010 (GRCm39) missense possibly damaging 0.94
R0601:Capn3 UTSW 2 120,333,077 (GRCm39) splice site probably null
R0714:Capn3 UTSW 2 120,322,361 (GRCm39) missense probably benign 0.32
R1217:Capn3 UTSW 2 120,316,902 (GRCm39) nonsense probably null
R1530:Capn3 UTSW 2 120,312,689 (GRCm39) missense probably damaging 1.00
R1566:Capn3 UTSW 2 120,333,474 (GRCm39) missense possibly damaging 0.72
R1745:Capn3 UTSW 2 120,320,170 (GRCm39) missense possibly damaging 0.87
R1748:Capn3 UTSW 2 120,327,494 (GRCm39) missense probably benign 0.10
R1861:Capn3 UTSW 2 120,316,963 (GRCm39) intron probably benign
R1960:Capn3 UTSW 2 120,294,421 (GRCm39) missense probably benign 0.00
R1971:Capn3 UTSW 2 120,311,228 (GRCm39) missense possibly damaging 0.95
R1994:Capn3 UTSW 2 120,326,418 (GRCm39) missense probably damaging 1.00
R2043:Capn3 UTSW 2 120,322,382 (GRCm39) missense possibly damaging 0.81
R2254:Capn3 UTSW 2 120,331,732 (GRCm39) missense probably benign 0.01
R2255:Capn3 UTSW 2 120,331,732 (GRCm39) missense probably benign 0.01
R3738:Capn3 UTSW 2 120,315,768 (GRCm39) missense possibly damaging 0.85
R3824:Capn3 UTSW 2 120,314,964 (GRCm39) splice site probably benign
R4796:Capn3 UTSW 2 120,333,479 (GRCm39) missense probably damaging 1.00
R5073:Capn3 UTSW 2 120,322,301 (GRCm39) missense probably damaging 1.00
R5116:Capn3 UTSW 2 120,315,773 (GRCm39) missense probably benign 0.00
R5152:Capn3 UTSW 2 120,331,811 (GRCm39) intron probably benign
R5420:Capn3 UTSW 2 120,325,777 (GRCm39) intron probably benign
R5478:Capn3 UTSW 2 120,294,666 (GRCm39) splice site probably null
R5506:Capn3 UTSW 2 120,332,901 (GRCm39) missense probably damaging 0.97
R5664:Capn3 UTSW 2 120,307,506 (GRCm39) missense probably benign 0.04
R5733:Capn3 UTSW 2 120,315,075 (GRCm39) nonsense probably null
R6212:Capn3 UTSW 2 120,307,667 (GRCm39) missense probably benign 0.17
R7176:Capn3 UTSW 2 120,334,973 (GRCm39) missense possibly damaging 0.46
R7219:Capn3 UTSW 2 120,333,935 (GRCm39) missense probably damaging 0.99
R7365:Capn3 UTSW 2 120,325,295 (GRCm39) missense probably damaging 0.98
R7819:Capn3 UTSW 2 120,294,646 (GRCm39) missense probably benign 0.05
R8052:Capn3 UTSW 2 120,316,867 (GRCm39) missense probably benign
R8834:Capn3 UTSW 2 120,294,534 (GRCm39) missense probably damaging 0.98
R8970:Capn3 UTSW 2 120,294,566 (GRCm39) missense possibly damaging 0.90
R9088:Capn3 UTSW 2 120,321,451 (GRCm39) missense probably benign
R9473:Capn3 UTSW 2 120,326,535 (GRCm39) nonsense probably null
R9512:Capn3 UTSW 2 120,326,535 (GRCm39) missense probably damaging 0.99
R9663:Capn3 UTSW 2 120,316,859 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCGTATGTATTGCCAGCATTGGGAG -3'
(R):5'- CTGACATTAGCAGGTCAGCTCAGG -3'

Sequencing Primer
(F):5'- CCTCTGCTGAGGAAGTCTAGAATG -3'
(R):5'- TCAGCTCAGGGGTTTCCAG -3'
Posted On 2013-05-09