Incidental Mutation 'IGL01071:Capn10'
ID 50198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn10
Ensembl Gene ENSMUSG00000026270
Gene Name calpain 10
Synonyms Capn8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL01071
Quality Score
Status
Chromosome 1
Chromosomal Location 92862130-92875670 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92872797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 508 (W508R)
Ref Sequence ENSEMBL: ENSMUSP00000027488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027488] [ENSMUST00000117814] [ENSMUST00000152983]
AlphaFold Q9ESK3
Predicted Effect probably damaging
Transcript: ENSMUST00000027488
AA Change: W508R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
AA Change: W508R

DomainStartEndE-ValueType
CysPc 2 329 1.75e-59 SMART
calpain_III 338 488 2.05e-60 SMART
calpain_III 507 645 1.3e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117814
SMART Domains Protein: ENSMUSP00000112831
Gene: ENSMUSG00000026270

DomainStartEndE-ValueType
CysPc 2 263 1.29e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136598
Predicted Effect probably benign
Transcript: ENSMUST00000152983
SMART Domains Protein: ENSMUSP00000122158
Gene: ENSMUSG00000026270

DomainStartEndE-ValueType
CysPc 2 329 1.75e-59 SMART
calpain_III 338 488 2.71e-60 SMART
low complexity region 490 499 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191563
Predicted Effect probably benign
Transcript: ENSMUST00000187342
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to ryanodine- and palmitate-induced pancreatic apoptosis. Mice homozygous for a different knock-out allele exhibit increased adiposity, body and organ weights, and leptin serum levels on background containing LG/J. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,930,137 (GRCm39) D124A probably damaging Het
Arhgef17 C A 7: 100,534,907 (GRCm39) V1137L probably damaging Het
Birc6 A G 17: 74,873,127 (GRCm39) D462G possibly damaging Het
Birc6 A T 17: 74,938,696 (GRCm39) N2701Y probably damaging Het
Cadps C T 14: 12,509,091 (GRCm38) probably null Het
Camk2a T C 18: 61,113,228 (GRCm39) probably null Het
Cntn3 A T 6: 102,397,212 (GRCm39) probably null Het
Crisp4 A G 1: 18,207,231 (GRCm39) V19A probably benign Het
Depdc1b A T 13: 108,493,975 (GRCm39) Y121F probably benign Het
Dsg1b T A 18: 20,542,272 (GRCm39) S926R probably damaging Het
Eml6 A G 11: 29,800,816 (GRCm39) probably null Het
Gm26938 A C 5: 139,794,228 (GRCm39) V117G possibly damaging Het
Keg1 T A 19: 12,696,364 (GRCm39) Y183N probably damaging Het
Mpi A T 9: 57,457,875 (GRCm39) I109N probably damaging Het
Or12j3 C T 7: 139,953,098 (GRCm39) A142T probably benign Het
Or13a20 C T 7: 140,232,827 (GRCm39) H312Y possibly damaging Het
Or14a259 T C 7: 86,012,768 (GRCm39) K259R possibly damaging Het
Or4c112 A G 2: 88,853,519 (GRCm39) V276A probably benign Het
Pcdhb20 A G 18: 37,637,738 (GRCm39) E88G possibly damaging Het
Pde6b G A 5: 108,567,581 (GRCm39) W290* probably null Het
Phf20 T A 2: 156,136,008 (GRCm39) probably null Het
Pkd1l1 A T 11: 8,798,921 (GRCm39) H1830Q probably benign Het
Proc T C 18: 32,256,770 (GRCm39) D299G probably damaging Het
Psmd14 A G 2: 61,630,407 (GRCm39) T306A probably benign Het
Rab32 G A 10: 10,433,591 (GRCm39) A81V probably damaging Het
Samd14 G A 11: 94,912,294 (GRCm39) probably benign Het
Sh3rf1 T A 8: 61,678,993 (GRCm39) C12S probably damaging Het
Sipa1l3 C T 7: 29,023,645 (GRCm39) V663M possibly damaging Het
Slc2a5 A G 4: 150,205,190 (GRCm39) probably benign Het
Tasor T A 14: 27,164,579 (GRCm39) probably null Het
Tbkbp1 T C 11: 97,040,388 (GRCm39) I9V probably damaging Het
Trip10 C A 17: 57,561,332 (GRCm39) R196S possibly damaging Het
Vav1 T C 17: 57,606,176 (GRCm39) Y267H probably benign Het
Wdr1 T C 5: 38,687,410 (GRCm39) K207R probably benign Het
Other mutations in Capn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Capn10 APN 1 92,870,281 (GRCm39) missense probably benign 0.00
IGL01682:Capn10 APN 1 92,868,106 (GRCm39) missense probably benign 0.16
IGL01771:Capn10 APN 1 92,868,087 (GRCm39) missense probably damaging 1.00
IGL02952:Capn10 APN 1 92,872,896 (GRCm39) missense probably damaging 0.97
IGL03177:Capn10 APN 1 92,862,704 (GRCm39) missense probably benign 0.02
IGL03224:Capn10 APN 1 92,867,046 (GRCm39) missense probably damaging 1.00
P4717OSA:Capn10 UTSW 1 92,867,116 (GRCm39) missense probably damaging 1.00
R1256:Capn10 UTSW 1 92,874,668 (GRCm39) missense probably damaging 1.00
R1405:Capn10 UTSW 1 92,872,744 (GRCm39) missense probably benign 0.34
R1405:Capn10 UTSW 1 92,872,744 (GRCm39) missense probably benign 0.34
R1653:Capn10 UTSW 1 92,874,620 (GRCm39) missense probably damaging 1.00
R1737:Capn10 UTSW 1 92,862,677 (GRCm39) missense probably benign 0.10
R2127:Capn10 UTSW 1 92,865,756 (GRCm39) nonsense probably null
R2433:Capn10 UTSW 1 92,870,247 (GRCm39) missense probably benign 0.22
R2484:Capn10 UTSW 1 92,872,565 (GRCm39) missense probably damaging 0.97
R4004:Capn10 UTSW 1 92,868,313 (GRCm39) missense probably damaging 0.98
R4005:Capn10 UTSW 1 92,868,313 (GRCm39) missense probably damaging 0.98
R4560:Capn10 UTSW 1 92,867,084 (GRCm39) missense probably damaging 1.00
R4684:Capn10 UTSW 1 92,871,503 (GRCm39) missense probably damaging 1.00
R4766:Capn10 UTSW 1 92,871,141 (GRCm39) missense probably damaging 0.98
R4996:Capn10 UTSW 1 92,872,858 (GRCm39) missense probably damaging 1.00
R5665:Capn10 UTSW 1 92,865,653 (GRCm39) splice site probably null
R5733:Capn10 UTSW 1 92,871,635 (GRCm39) missense probably benign 0.03
R5937:Capn10 UTSW 1 92,867,105 (GRCm39) missense probably damaging 1.00
R6985:Capn10 UTSW 1 92,871,146 (GRCm39) missense probably damaging 1.00
R7140:Capn10 UTSW 1 92,872,993 (GRCm39) missense possibly damaging 0.85
R7495:Capn10 UTSW 1 92,871,092 (GRCm39) missense probably damaging 1.00
R8170:Capn10 UTSW 1 92,862,686 (GRCm39) missense probably damaging 0.98
R8393:Capn10 UTSW 1 92,871,130 (GRCm39) missense probably benign 0.09
R8943:Capn10 UTSW 1 92,871,454 (GRCm39) missense probably damaging 1.00
R9303:Capn10 UTSW 1 92,871,665 (GRCm39) critical splice donor site probably null
R9305:Capn10 UTSW 1 92,871,665 (GRCm39) critical splice donor site probably null
R9655:Capn10 UTSW 1 92,867,111 (GRCm39) missense probably damaging 1.00
R9776:Capn10 UTSW 1 92,871,586 (GRCm39) missense possibly damaging 0.67
Posted On 2013-06-21