Incidental Mutation 'IGL03177:Capn10'
ID412041
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: 0.213) question?
Stock #IGL03177
Quality Score
Status
Chromosome1
Chromosomal Location92934376-92947941 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92934982 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 37 (F37L)
Ref Sequence ENSEMBL: ENSMUSP00000112831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027488] [ENSMUST00000117814] [ENSMUST00000152983]
Predicted Effect probably benign
Transcript: ENSMUST00000027488
AA Change: F37L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
AA Change: F37L

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
AA Change: F37L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112831
Gene: ENSMUSG00000026270
AA Change: F37L

DomainStartEndE-ValueType
CysPc 2 263 1.29e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152983
AA Change: F37L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000122158
Gene: ENSMUSG00000026270
AA Change: F37L

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: 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 160,438,263 I23T possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
H2-M3 G T 17: 37,270,316 V19F possibly damaging Het
Hapln2 C A 3: 88,022,771 C266F probably damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mdfic T C 6: 15,770,451 V152A probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Parva T A 7: 112,572,933 probably benign Het
Phf10 G A 17: 14,946,231 T459I probably damaging Het
Prg4 T A 1: 150,455,603 probably benign Het
Pum3 A T 19: 27,390,212 I639N probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Scn3b A C 9: 40,270,042 Y17S probably benign Het
Senp8 A G 9: 59,737,328 C169R probably damaging Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Six1 T C 12: 73,043,740 E217G possibly damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G 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
IGL02952:Capn10 APN 1 92945174 missense probably damaging 0.97
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
R7140:Capn10 UTSW 1 92945271 missense possibly damaging 0.85
R7495:Capn10 UTSW 1 92943370 missense probably damaging 1.00
R8170:Capn10 UTSW 1 92934964 missense probably damaging 0.98
Posted On2016-08-02