Incidental Mutation 'IGL01768:Capn5'
ID 154012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn5
Ensembl Gene ENSMUSG00000035547
Gene Name calpain 5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL01768
Quality Score
Status
Chromosome 7
Chromosomal Location 97770766-97827481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97774480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 570 (R570H)
Ref Sequence ENSEMBL: ENSMUSP00000102729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040971] [ENSMUST00000107112]
AlphaFold O08688
Predicted Effect probably damaging
Transcript: ENSMUST00000040971
AA Change: R570H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048183
Gene: ENSMUSG00000035547
AA Change: R570H

DomainStartEndE-ValueType
CysPc 8 351 4.18e-212 SMART
calpain_III 353 496 1.21e-66 SMART
C2 518 619 1.29e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107112
AA Change: R570H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102729
Gene: ENSMUSG00000035547
AA Change: R570H

DomainStartEndE-ValueType
CysPc 8 351 4.18e-212 SMART
calpain_III 353 496 1.21e-66 SMART
C2 518 619 1.29e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the calpain family of proteins. Unlike many members of the calpain gene family, this gene lacks a calmodulin-like domain, required for calcium binding. Mouse models for Huntington's disease displayed increased levels of the protein encoded by this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one allele of this gene occasionally exhibit reduced viability but are usually normal. Homozygotes for another allele die as embryos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm3 T C 16: 17,324,141 (GRCm39) V567A possibly damaging Het
Arnt T C 3: 95,398,327 (GRCm39) probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Cdh9 A T 15: 16,778,311 (GRCm39) D42V possibly damaging Het
Cdk17 T C 10: 93,044,123 (GRCm39) S21P probably damaging Het
Cdkl3 T A 11: 51,916,744 (GRCm39) F291I probably damaging Het
Cfap210 A T 2: 69,612,471 (GRCm39) probably benign Het
Clmn T C 12: 104,747,978 (GRCm39) E523G probably damaging Het
Cyp4f14 A T 17: 33,126,976 (GRCm39) I318N probably damaging Het
Daam1 T A 12: 72,036,659 (GRCm39) F1068L probably benign Het
Ext2 A G 2: 93,621,455 (GRCm39) probably benign Het
F5 T A 1: 164,003,914 (GRCm39) F236L probably benign Het
Fat2 A G 11: 55,153,394 (GRCm39) V3606A probably damaging Het
Gpam G A 19: 55,075,952 (GRCm39) T220M probably benign Het
Hyal1 C A 9: 107,456,338 (GRCm39) L342I probably damaging Het
Ilvbl C A 10: 78,419,127 (GRCm39) P459T possibly damaging Het
Itga5 A G 15: 103,259,997 (GRCm39) Y632H probably benign Het
Jkampl A T 6: 73,445,899 (GRCm39) L217M possibly damaging Het
Krt73 T C 15: 101,707,291 (GRCm39) D299G probably benign Het
Lcp1 T C 14: 75,461,573 (GRCm39) V522A probably benign Het
Lmo3 A G 6: 138,393,495 (GRCm39) C53R probably damaging Het
Nsun7 T C 5: 66,436,043 (GRCm39) V305A probably benign Het
Oprm1 T C 10: 6,779,186 (GRCm39) S196P probably damaging Het
Or2y1e G A 11: 49,218,958 (GRCm39) C240Y probably damaging Het
Or4z4 A T 19: 12,076,403 (GRCm39) I200N probably damaging Het
Or7e168 G A 9: 19,720,456 (GRCm39) V281M possibly damaging Het
Ovgp1 T C 3: 105,888,667 (GRCm39) probably null Het
Pcdhb20 T C 18: 37,639,768 (GRCm39) F765L possibly damaging Het
Ppp4r4 T C 12: 103,547,664 (GRCm39) V3A probably benign Het
Ruvbl1 A G 6: 88,474,253 (GRCm39) I419V probably benign Het
Scara5 T A 14: 65,927,224 (GRCm39) C40* probably null Het
Siglec1 T C 2: 130,916,314 (GRCm39) Q1212R probably benign Het
Slc31a1 G A 4: 62,306,273 (GRCm39) probably null Het
Sparc G T 11: 55,296,069 (GRCm39) N87K probably damaging Het
Tcf12 T C 9: 71,776,278 (GRCm39) probably null Het
Timm44 A T 8: 4,316,860 (GRCm39) F258I probably benign Het
Tm2d2 G T 8: 25,508,095 (GRCm39) V80L possibly damaging Het
Tpr A G 1: 150,320,199 (GRCm39) D2249G possibly damaging Het
Trim50 G T 5: 135,392,736 (GRCm39) G217V possibly damaging Het
Ugcg T C 4: 59,217,216 (GRCm39) probably null Het
Vmn2r107 A T 17: 20,565,868 (GRCm39) H61L probably benign Het
Zfp84 A G 7: 29,476,091 (GRCm39) H261R probably benign Het
Zswim2 A T 2: 83,748,301 (GRCm39) M293K probably benign Het
Other mutations in Capn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Capn5 APN 7 97,784,971 (GRCm39) missense probably damaging 1.00
IGL01311:Capn5 APN 7 97,811,130 (GRCm39) missense probably damaging 1.00
IGL01926:Capn5 APN 7 97,777,679 (GRCm39) critical splice donor site probably null
IGL02076:Capn5 APN 7 97,780,950 (GRCm39) nonsense probably null
IGL02505:Capn5 APN 7 97,780,403 (GRCm39) missense possibly damaging 0.85
BB007:Capn5 UTSW 7 97,773,085 (GRCm39) missense probably benign
BB017:Capn5 UTSW 7 97,773,085 (GRCm39) missense probably benign
PIT4466001:Capn5 UTSW 7 97,773,195 (GRCm39) missense probably benign 0.00
R0178:Capn5 UTSW 7 97,782,098 (GRCm39) missense probably damaging 1.00
R0518:Capn5 UTSW 7 97,782,089 (GRCm39) missense probably damaging 1.00
R0521:Capn5 UTSW 7 97,782,089 (GRCm39) missense probably damaging 1.00
R1459:Capn5 UTSW 7 97,781,049 (GRCm39) missense possibly damaging 0.84
R2005:Capn5 UTSW 7 97,778,570 (GRCm39) missense probably benign
R2258:Capn5 UTSW 7 97,785,082 (GRCm39) missense probably damaging 0.99
R2327:Capn5 UTSW 7 97,775,574 (GRCm39) missense probably benign 0.07
R3797:Capn5 UTSW 7 97,775,036 (GRCm39) missense probably null 0.77
R4032:Capn5 UTSW 7 97,778,453 (GRCm39) missense probably damaging 0.96
R4620:Capn5 UTSW 7 97,778,578 (GRCm39) missense probably damaging 0.98
R4717:Capn5 UTSW 7 97,773,126 (GRCm39) missense probably benign 0.02
R4777:Capn5 UTSW 7 97,780,925 (GRCm39) missense probably damaging 1.00
R4823:Capn5 UTSW 7 97,775,648 (GRCm39) missense probably damaging 1.00
R4841:Capn5 UTSW 7 97,780,879 (GRCm39) splice site probably null
R4965:Capn5 UTSW 7 97,775,624 (GRCm39) missense probably damaging 0.99
R5568:Capn5 UTSW 7 97,775,137 (GRCm39) missense probably damaging 1.00
R5732:Capn5 UTSW 7 97,778,593 (GRCm39) missense possibly damaging 0.95
R5792:Capn5 UTSW 7 97,780,402 (GRCm39) missense probably benign 0.09
R6892:Capn5 UTSW 7 97,785,148 (GRCm39) missense probably damaging 1.00
R6923:Capn5 UTSW 7 97,778,461 (GRCm39) missense probably damaging 1.00
R7095:Capn5 UTSW 7 97,775,038 (GRCm39) missense probably benign 0.10
R7391:Capn5 UTSW 7 97,780,426 (GRCm39) missense probably benign 0.02
R7553:Capn5 UTSW 7 97,773,231 (GRCm39) missense probably damaging 1.00
R7930:Capn5 UTSW 7 97,773,085 (GRCm39) missense probably benign
R8876:Capn5 UTSW 7 97,780,902 (GRCm39) missense probably benign 0.01
R8914:Capn5 UTSW 7 97,784,997 (GRCm39) missense probably damaging 0.99
R9012:Capn5 UTSW 7 97,814,050 (GRCm39) start gained probably benign
R9087:Capn5 UTSW 7 97,775,531 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04