Incidental Mutation 'IGL01314:Capn1'
ID 73806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn1
Ensembl Gene ENSMUSG00000024942
Gene Name calpain 1
Synonyms Capa1, Capa-1, mu-calpin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01314
Quality Score
Status
Chromosome 19
Chromosomal Location 6038573-6065855 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 6040014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025891] [ENSMUST00000041827] [ENSMUST00000164843]
AlphaFold O35350
Predicted Effect probably benign
Transcript: ENSMUST00000025891
SMART Domains Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942

DomainStartEndE-ValueType
CysPc 37 362 6.79e-180 SMART
calpain_III 365 521 7.38e-94 SMART
EFh 588 616 1.13e1 SMART
EFh 618 646 2.95e0 SMART
EFh 683 711 7.65e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041827
SMART Domains Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
Pfam:Sugar_tr 100 521 2.5e-27 PFAM
Pfam:MFS_1 132 475 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164843
SMART Domains Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942

DomainStartEndE-ValueType
CysPc 37 362 6.79e-180 SMART
calpain_III 365 521 7.38e-94 SMART
EFh 588 616 1.13e1 SMART
EFh 618 646 2.95e0 SMART
EFh 683 711 7.65e1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Animals homozygous for a mutation of this gene exhibit decreased platelet aggregation and defective clot retraction although bleeding times remain similar to wild-type. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,071,939 (GRCm39) A161V probably benign Het
Bptf A T 11: 106,945,679 (GRCm39) V2520E probably damaging Het
C87436 T C 6: 86,434,837 (GRCm39) F395S probably damaging Het
Ceacam5 T A 7: 17,481,181 (GRCm39) Y309* probably null Het
Clasp2 A G 9: 113,735,195 (GRCm39) D1011G possibly damaging Het
Csmd3 A G 15: 47,713,151 (GRCm39) Y1608H probably damaging Het
Dcaf1 T C 9: 106,711,390 (GRCm39) I77T probably benign Het
Dcdc2a T C 13: 25,286,587 (GRCm39) L170P probably damaging Het
Ddx28 A G 8: 106,737,212 (GRCm39) F282S probably damaging Het
Egf A G 3: 129,479,909 (GRCm39) I497T probably benign Het
Emsy A G 7: 98,242,662 (GRCm39) V1159A probably benign Het
Hk3 C A 13: 55,154,876 (GRCm39) probably benign Het
Htt A G 5: 35,036,200 (GRCm39) D2049G probably benign Het
Inpp5d C A 1: 87,611,472 (GRCm39) S45* probably null Het
Irf8 A G 8: 121,480,119 (GRCm39) Y119C probably damaging Het
Klk1b4 T C 7: 43,860,600 (GRCm39) probably null Het
Macf1 A G 4: 123,380,513 (GRCm39) S1273P probably damaging Het
Man2c1 A T 9: 57,049,103 (GRCm39) H867L probably benign Het
Mgat4e T C 1: 134,469,187 (GRCm39) T286A probably damaging Het
Mug2 T C 6: 122,058,238 (GRCm39) F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 (GRCm39) E128D probably damaging Het
Or10ak9 G A 4: 118,726,328 (GRCm39) V117I probably benign Het
Pds5a A G 5: 65,772,637 (GRCm39) V1322A probably benign Het
Poc1b C T 10: 98,965,503 (GRCm39) T144I probably damaging Het
Prcc T A 3: 87,777,387 (GRCm39) N196Y probably damaging Het
Psma5 G A 3: 108,187,111 (GRCm39) V237M possibly damaging Het
Rap1gds1 A G 3: 138,756,322 (GRCm39) L11P probably damaging Het
Rapgef3 A G 15: 97,646,104 (GRCm39) F132S probably damaging Het
Rgs13 T G 1: 144,047,179 (GRCm39) D14A probably benign Het
Rlig1 A C 10: 100,409,473 (GRCm39) D313E probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tcerg1 C A 18: 42,706,374 (GRCm39) A1017D probably damaging Het
Tent5c T C 3: 100,380,490 (GRCm39) K89E probably benign Het
Tmem79 T C 3: 88,239,883 (GRCm39) I276V possibly damaging Het
Tmem94 C A 11: 115,680,835 (GRCm39) H113N probably damaging Het
Vil1 G A 1: 74,467,397 (GRCm39) D715N probably damaging Het
Vmn2r96 A G 17: 18,803,226 (GRCm39) T187A probably benign Het
Zfhx4 T A 3: 5,478,154 (GRCm39) S3590T probably damaging Het
Other mutations in Capn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Capn1 APN 19 6,057,299 (GRCm39) missense probably damaging 1.00
R0044:Capn1 UTSW 19 6,064,373 (GRCm39) missense probably benign 0.03
R1496:Capn1 UTSW 19 6,057,528 (GRCm39) critical splice donor site probably null
R1646:Capn1 UTSW 19 6,047,760 (GRCm39) missense probably benign
R1852:Capn1 UTSW 19 6,059,133 (GRCm39) missense possibly damaging 0.95
R1924:Capn1 UTSW 19 6,040,086 (GRCm39) splice site probably null
R2006:Capn1 UTSW 19 6,041,613 (GRCm39) missense probably damaging 1.00
R2109:Capn1 UTSW 19 6,064,388 (GRCm39) missense probably benign 0.01
R3704:Capn1 UTSW 19 6,057,401 (GRCm39) missense probably damaging 1.00
R3705:Capn1 UTSW 19 6,057,401 (GRCm39) missense probably damaging 1.00
R3830:Capn1 UTSW 19 6,044,877 (GRCm39) missense probably damaging 1.00
R4664:Capn1 UTSW 19 6,061,045 (GRCm39) missense probably benign 0.03
R4665:Capn1 UTSW 19 6,061,045 (GRCm39) missense probably benign 0.03
R4666:Capn1 UTSW 19 6,061,045 (GRCm39) missense probably benign 0.03
R4694:Capn1 UTSW 19 6,044,761 (GRCm39) nonsense probably null
R4745:Capn1 UTSW 19 6,043,946 (GRCm39) missense probably benign 0.12
R5103:Capn1 UTSW 19 6,059,140 (GRCm39) missense probably damaging 1.00
R5149:Capn1 UTSW 19 6,040,364 (GRCm39) splice site probably null
R5569:Capn1 UTSW 19 6,063,690 (GRCm39) missense probably benign
R5636:Capn1 UTSW 19 6,064,472 (GRCm39) missense probably benign 0.22
R5906:Capn1 UTSW 19 6,061,451 (GRCm39) missense possibly damaging 0.90
R5907:Capn1 UTSW 19 6,047,827 (GRCm39) missense probably benign
R7038:Capn1 UTSW 19 6,064,349 (GRCm39) missense probably benign 0.23
R7091:Capn1 UTSW 19 6,041,586 (GRCm39) missense possibly damaging 0.64
R7307:Capn1 UTSW 19 6,043,938 (GRCm39) missense possibly damaging 0.91
R7592:Capn1 UTSW 19 6,064,469 (GRCm39) missense probably benign 0.00
R7779:Capn1 UTSW 19 6,044,116 (GRCm39) missense probably benign
R8514:Capn1 UTSW 19 6,047,854 (GRCm39) missense probably damaging 0.98
R8708:Capn1 UTSW 19 6,061,328 (GRCm39) missense probably damaging 1.00
R9452:Capn1 UTSW 19 6,057,287 (GRCm39) missense probably damaging 1.00
Z1176:Capn1 UTSW 19 6,064,308 (GRCm39) missense probably benign 0.01
Posted On 2013-10-07