Incidental Mutation 'IGL01019:Capn5'
ID 53690
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 # IGL01019
Quality Score
Status
Chromosome 7
Chromosomal Location 97770766-97827481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97784971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 168 (A168T)
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: A168T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048183
Gene: ENSMUSG00000035547
AA Change: A168T

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: A168T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102729
Gene: ENSMUSG00000035547
AA Change: A168T

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
Abcg8 T C 17: 84,999,423 (GRCm39) M173T probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Chdh A T 14: 29,753,289 (GRCm39) N66I probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Dcc T C 18: 71,942,161 (GRCm39) I319V probably benign Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Krtap5-4 A C 7: 141,857,647 (GRCm39) S106R unknown Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mcm9 C A 10: 53,506,041 (GRCm39) G78C probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nfkbia T A 12: 55,537,327 (GRCm39) Y254F probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Ptpre A T 7: 135,280,054 (GRCm39) K586* probably null Het
Reps1 A G 10: 18,000,643 (GRCm39) R752G probably damaging Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Serpinf2 T A 11: 75,327,333 (GRCm39) E198V possibly damaging Het
Sh3tc1 A G 5: 35,860,719 (GRCm39) L1046P probably damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably damaging Het
Other mutations in Capn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Capn5 APN 7 97,811,130 (GRCm39) missense probably damaging 1.00
IGL01768:Capn5 APN 7 97,774,480 (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 2013-06-28