Incidental Mutation 'IGL00543:Capn3'
ID 9374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn3
Ensembl Gene ENSMUSG00000079110
Gene Name calpain 3
Synonyms Capa3, Lp82, Capa-3, p94
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # IGL00543
Quality Score
Status
Chromosome 2
Chromosomal Location 120294074-120335400 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 120316963 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: ENSMUST00000145993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124129
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c A G 2: 58,205,835 (GRCm39) C42R probably damaging Het
Adamts1 T C 16: 85,592,461 (GRCm39) H649R probably benign Het
Cd44 T C 2: 102,686,292 (GRCm39) T135A possibly damaging Het
Cntnap5c T A 17: 58,601,345 (GRCm39) I831N probably benign Het
Eprs1 G T 1: 185,139,345 (GRCm39) C910F probably benign Het
Epx T C 11: 87,760,751 (GRCm39) R394G probably damaging Het
Hps5 T C 7: 46,427,497 (GRCm39) D338G probably benign Het
Ikbkg T C X: 73,476,466 (GRCm39) V14A probably damaging Het
Lrp1b A G 2: 41,358,960 (GRCm39) F638L possibly damaging Het
Lyz3 G T 10: 117,074,352 (GRCm39) T45K probably benign Het
Mak A T 13: 41,209,189 (GRCm39) Y87N probably damaging Het
Morc2a T A 11: 3,630,283 (GRCm39) I493N probably damaging Het
Msl2 T A 9: 100,978,269 (GRCm39) H214Q probably benign Het
Myom3 A C 4: 135,489,882 (GRCm39) T18P possibly damaging Het
Ndst3 G T 3: 123,465,912 (GRCm39) T20N probably damaging Het
Nelfe T A 17: 35,072,592 (GRCm39) S124T possibly damaging Het
Niban2 T A 2: 32,802,483 (GRCm39) F158Y probably benign Het
Nlgn1 T G 3: 25,487,945 (GRCm39) T797P probably damaging Het
Pcdh18 T C 3: 49,707,828 (GRCm39) D414G probably damaging Het
Pde4dip T C 3: 97,664,940 (GRCm39) S386G possibly damaging Het
Ppig T A 2: 69,580,060 (GRCm39) H531Q unknown Het
Ppm1n T C 7: 19,012,109 (GRCm39) Y348C probably benign Het
Rdh9 T C 10: 127,626,853 (GRCm39) V302A probably benign Het
Serpinb3b A G 1: 107,085,396 (GRCm39) probably null Het
Slc39a10 A G 1: 46,858,217 (GRCm39) probably benign Het
Other mutations in Capn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0276:Capn3 UTSW 2 120,318,546 (GRCm39) splice site probably benign
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
Posted On 2012-12-06