Incidental Mutation 'IGL02952:Capn10'
ID364964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn10
Ensembl Gene ENSMUSG00000026270
Gene Namecalpain 10
SynonymsCapn8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL02952
Quality Score
Status
Chromosome1
Chromosomal Location92934376-92947941 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92945174 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 541 (S541P)
Ref Sequence ENSEMBL: ENSMUSP00000027488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027488] [ENSMUST00000117814] [ENSMUST00000152983]
Predicted Effect probably damaging
Transcript: ENSMUST00000027488
AA Change: S541P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
AA Change: S541P

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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415F23Rik A T 1: 23,101,990 I81N probably damaging Het
A2m A T 6: 121,678,025 D1436V probably damaging Het
Abca7 G T 10: 80,007,408 R1239L probably damaging Het
Acp2 T C 2: 91,208,443 probably benign Het
Adamts4 A G 1: 171,251,348 N179S probably damaging Het
Adgrv1 T C 13: 81,433,636 D4763G probably benign Het
Atp11b T C 3: 35,828,695 V633A probably damaging Het
Cadm2 A T 16: 66,664,452 I342K probably damaging Het
Ccnf A G 17: 24,231,325 L462P possibly damaging Het
Cdc27 T C 11: 104,517,464 Y546C probably damaging Het
Cep120 G T 18: 53,683,228 probably benign Het
Cetn2 T C X: 72,914,202 probably null Het
Cyp1a1 C T 9: 57,702,710 S469L probably benign Het
Dnah17 G A 11: 118,088,268 T1766I probably benign Het
Doc2g G A 19: 4,006,719 G345D possibly damaging Het
Dock4 T C 12: 40,710,903 probably null Het
Dopey1 T A 9: 86,532,922 probably benign Het
Emilin2 C A 17: 71,280,821 V99F probably damaging Het
Exoc8 A G 8: 124,897,536 S31P probably benign Het
Fam198b T C 3: 79,886,339 L38P probably damaging Het
Gm3115 T C 14: 4,084,302 probably benign Het
Gm9742 T A 13: 8,029,894 noncoding transcript Het
Gpr160 T C 3: 30,896,294 Y172H probably benign Het
Ifnk T A 4: 35,152,495 L141Q probably damaging Het
Klhl36 A G 8: 119,870,484 E308G probably benign Het
Lrp1b T C 2: 41,506,703 I450M probably benign Het
Noxa1 T C 2: 25,091,761 Y110C probably damaging Het
Olfr287 T C 15: 98,207,589 Y265C probably damaging Het
Pkd2 A T 5: 104,480,160 T367S possibly damaging Het
Polg2 T C 11: 106,772,713 I385V possibly damaging Het
Prr14l A G 5: 32,835,670 S17P unknown Het
Prss22 C A 17: 23,996,723 C75F probably damaging Het
Ptgs1 A G 2: 36,251,241 K567E probably benign Het
Ptprz1 A G 6: 23,036,926 I1141M probably damaging Het
R3hcc1l A G 19: 42,563,994 K477E probably damaging Het
Riok1 A G 13: 38,048,890 Y194C probably damaging Het
Smr2 T A 5: 88,088,236 C16S possibly damaging Het
Stk25 A T 1: 93,626,076 I187N probably damaging Het
Trhde T C 10: 114,800,573 E243G probably damaging Het
Vmn2r3 T C 3: 64,278,835 E143G probably damaging Het
Other mutations in Capn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Capn10 APN 1 92942559 missense probably benign 0.00
IGL01071:Capn10 APN 1 92945075 missense probably damaging 1.00
IGL01682:Capn10 APN 1 92940384 missense probably benign 0.16
IGL01771:Capn10 APN 1 92940365 missense probably damaging 1.00
IGL03177:Capn10 APN 1 92934982 missense probably benign 0.02
IGL03224:Capn10 APN 1 92939324 missense probably damaging 1.00
P4717OSA:Capn10 UTSW 1 92939394 missense probably damaging 1.00
R1256:Capn10 UTSW 1 92946946 missense probably damaging 1.00
R1405:Capn10 UTSW 1 92945022 missense probably benign 0.34
R1405:Capn10 UTSW 1 92945022 missense probably benign 0.34
R1653:Capn10 UTSW 1 92946898 missense probably damaging 1.00
R1737:Capn10 UTSW 1 92934955 missense probably benign 0.10
R2127:Capn10 UTSW 1 92938034 nonsense probably null
R2433:Capn10 UTSW 1 92942525 missense probably benign 0.22
R2484:Capn10 UTSW 1 92944843 missense probably damaging 0.97
R4004:Capn10 UTSW 1 92940591 missense probably damaging 0.98
R4005:Capn10 UTSW 1 92940591 missense probably damaging 0.98
R4560:Capn10 UTSW 1 92939362 missense probably damaging 1.00
R4684:Capn10 UTSW 1 92943781 missense probably damaging 1.00
R4766:Capn10 UTSW 1 92943419 missense probably damaging 0.98
R4996:Capn10 UTSW 1 92945136 missense probably damaging 1.00
R5665:Capn10 UTSW 1 92937931 splice site probably null
R5733:Capn10 UTSW 1 92943913 missense probably benign 0.03
R5937:Capn10 UTSW 1 92939383 missense probably damaging 1.00
R6985:Capn10 UTSW 1 92943424 missense probably damaging 1.00
Posted On2015-12-18