Incidental Mutation 'IGL02899:Capn3'
ID 363529
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 # IGL02899
Quality Score
Status
Chromosome 2
Chromosomal Location 120294074-120335400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120322382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 414 (N414S)
Ref Sequence ENSEMBL: ENSMUSP00000106344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028748] [ENSMUST00000028749] [ENSMUST00000090028] [ENSMUST00000110716] [ENSMUST00000110719] [ENSMUST00000110721]
AlphaFold Q64691
Predicted Effect possibly damaging
Transcript: ENSMUST00000028748
AA Change: N366S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028748
Gene: ENSMUSG00000079110
AA Change: N366S

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 possibly damaging
Transcript: ENSMUST00000028749
AA Change: N434S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028749
Gene: ENSMUSG00000079110
AA Change: N434S

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 possibly damaging
Transcript: ENSMUST00000090028
AA Change: N366S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087482
Gene: ENSMUSG00000079110
AA Change: N366S

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 possibly damaging
Transcript: ENSMUST00000110716
AA Change: N414S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106344
Gene: ENSMUSG00000079110
AA Change: N414S

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
AA Change: N414S

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106347
Gene: ENSMUSG00000079110
AA Change: N414S

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 possibly damaging
Transcript: ENSMUST00000110721
AA Change: N386S

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106349
Gene: ENSMUSG00000079110
AA Change: N386S

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: ENSMUST00000124129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145993
Meta Mutation Damage Score 0.2147 question?
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,710,971 (GRCm39) probably benign Het
Btbd7 A G 12: 102,803,921 (GRCm39) L373P probably damaging Het
Ccdc186 A T 19: 56,781,920 (GRCm39) I753N probably benign Het
Ccser2 G A 14: 36,662,716 (GRCm39) T156I probably benign Het
Celsr1 A G 15: 85,915,927 (GRCm39) M682T probably damaging Het
Cep97 C A 16: 55,738,903 (GRCm39) S267I probably damaging Het
Dhx35 A G 2: 158,643,370 (GRCm39) Y39C probably damaging Het
Dscam A T 16: 96,510,447 (GRCm39) D937E probably damaging Het
Elmod2 A G 8: 84,043,562 (GRCm39) Y202H probably damaging Het
Fyco1 T C 9: 123,659,396 (GRCm39) N260S possibly damaging Het
Gm5591 A G 7: 38,218,842 (GRCm39) L677P probably damaging Het
Gmppa A G 1: 75,418,474 (GRCm39) probably null Het
Hltf C T 3: 20,153,981 (GRCm39) T639I probably damaging Het
Inhca C A 9: 103,154,773 (GRCm39) V173L probably damaging Het
Kpnb1 T C 11: 97,066,612 (GRCm39) Y321C probably damaging Het
Lgr4 G A 2: 109,748,598 (GRCm39) G45R probably damaging Het
Ltn1 T C 16: 87,179,547 (GRCm39) D1538G probably benign Het
Maf1 T A 15: 76,237,220 (GRCm39) probably benign Het
Morn5 T C 2: 35,945,049 (GRCm39) F91S probably damaging Het
Ncan C T 8: 70,567,698 (GRCm39) R138H possibly damaging Het
Or10ak7 A T 4: 118,791,859 (GRCm39) M62K probably damaging Het
Or5ac21 G T 16: 59,123,649 (GRCm39) L44F probably damaging Het
Parg T C 14: 31,960,531 (GRCm39) L82S probably damaging Het
Ppp2r2b A T 18: 42,778,874 (GRCm39) H417Q probably damaging Het
Rb1cc1 T C 1: 6,334,807 (GRCm39) L98P probably damaging Het
Ryr1 C A 7: 28,748,220 (GRCm39) V3752L possibly damaging Het
Slc25a12 A G 2: 71,109,979 (GRCm39) L489P probably damaging Het
Slc38a8 C T 8: 120,212,282 (GRCm39) V354M probably benign Het
Slf2 A G 19: 44,930,459 (GRCm39) E512G probably benign Het
Tarbp1 A G 8: 127,180,583 (GRCm39) M597T probably damaging Het
Tgfb3 G A 12: 86,116,550 (GRCm39) R163C probably damaging Het
Tmco5b A G 2: 113,127,265 (GRCm39) M279V probably benign Het
Ttll9 G A 2: 152,844,871 (GRCm39) G413D probably damaging Het
Tut1 A G 19: 8,939,751 (GRCm39) D245G probably damaging Het
Usf3 T A 16: 44,041,589 (GRCm39) V2023E probably damaging Het
Vps33a C T 5: 123,669,239 (GRCm39) G554D probably damaging Het
Zfp27 C A 7: 29,595,680 (GRCm39) R95M possibly 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
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 2015-12-18