Incidental Mutation 'IGL01771:Capn10'
ID 153851
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 # IGL01771
Quality Score
Status
Chromosome 1
Chromosomal Location 92862130-92875670 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92868087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 185 (W185R)
Ref Sequence ENSEMBL: ENSMUSP00000122158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027488] [ENSMUST00000117814] [ENSMUST00000152983]
AlphaFold Q9ESK3
Predicted Effect probably damaging
Transcript: ENSMUST00000027488
AA Change: W185R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
AA Change: W185R

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 damaging
Transcript: ENSMUST00000117814
AA Change: W185R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112831
Gene: ENSMUSG00000026270
AA Change: W185R

DomainStartEndE-ValueType
CysPc 2 263 1.29e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128429
Predicted Effect probably damaging
Transcript: ENSMUST00000152983
AA Change: W185R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122158
Gene: ENSMUSG00000026270
AA Change: W185R

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 probably benign
Transcript: ENSMUST00000187342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191563
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Frmd8 A G 19: 5,919,603 (GRCm39) L148P probably damaging Het
Gk5 T C 9: 96,059,488 (GRCm39) C447R probably damaging Het
Hip1r T A 5: 124,137,606 (GRCm39) V704D possibly damaging Het
Kcnj10 C A 1: 172,197,150 (GRCm39) H221Q probably benign Het
Klk1b8 A T 7: 43,604,290 (GRCm39) I253L probably damaging Het
Or10aa4-ps1 T C 1: 173,878,887 (GRCm39) probably benign Het
Or1ad8 A G 11: 50,898,593 (GRCm39) T265A probably benign Het
Or1e29 A T 11: 73,667,490 (GRCm39) I221N probably damaging Het
Or5ac22 T C 16: 59,134,891 (GRCm39) N293S probably damaging Het
Or8k40 C T 2: 86,584,626 (GRCm39) C152Y probably benign Het
Pdp2 A T 8: 105,320,754 (GRCm39) Y201F probably benign Het
Ppfia1 A T 7: 144,036,094 (GRCm39) I1112K probably benign Het
Ppwd1 A G 13: 104,353,624 (GRCm39) I378T probably damaging Het
Rhbdd1 T A 1: 82,355,313 (GRCm39) D248E probably benign Het
Sec14l5 T C 16: 4,996,494 (GRCm39) probably null Het
Sel1l3 T G 5: 53,279,183 (GRCm39) D960A probably damaging Het
Slc35f3 T C 8: 127,115,951 (GRCm39) Y293H probably benign Het
Wwc1 A G 11: 35,744,185 (GRCm39) probably null Het
Zan T C 5: 137,391,330 (GRCm39) N4718S unknown Het
Zfyve16 T C 13: 92,658,680 (GRCm39) I410M probably benign Het
Other mutations in Capn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Capn10 APN 1 92,870,281 (GRCm39) missense probably benign 0.00
IGL01071:Capn10 APN 1 92,872,797 (GRCm39) missense probably damaging 1.00
IGL01682:Capn10 APN 1 92,868,106 (GRCm39) missense probably benign 0.16
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 2014-02-04