Incidental Mutation 'R5733:Capn10'
ID 451519
Institutional Source Beutler Lab
Gene Symbol Capn10
Ensembl Gene ENSMUSG00000026270
Gene Name calpain 10
Synonyms Capn8
MMRRC Submission 043193-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R5733 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 92934376-92947941 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92943913 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 411 (Y411C)
Ref Sequence ENSEMBL: ENSMUSP00000122158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027488] [ENSMUST00000117814] [ENSMUST00000152983]
AlphaFold Q9ESK3
Predicted Effect probably benign
Transcript: ENSMUST00000027488
AA Change: Y411C

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
AA Change: Y411C

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

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
AA Change: Y411C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122158
Gene: ENSMUSG00000026270
AA Change: Y411C

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 silent
Transcript: ENSMUST00000187342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191563
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 95.0%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,245,080 (GRCm38) S76T probably damaging Het
Acox3 T A 5: 35,605,199 (GRCm38) probably null Het
Ahnak2 A T 12: 112,775,666 (GRCm38) Y657* probably null Het
Anxa3 T A 5: 96,820,472 (GRCm38) I128N probably damaging Het
Bsnd T C 4: 106,488,001 (GRCm38) T83A probably benign Het
Capn3 G A 2: 120,484,594 (GRCm38) W201* probably null Het
Crtap T C 9: 114,378,096 (GRCm38) T365A probably benign Het
Daam1 A G 12: 71,945,498 (GRCm38) D329G unknown Het
Dmxl2 A T 9: 54,376,266 (GRCm38) L2761Q possibly damaging Het
Dpcr1 T C 17: 35,638,210 (GRCm38) M166V probably benign Het
Fcho2 A C 13: 98,789,802 (GRCm38) V91G probably damaging Het
Fen1 A T 19: 10,200,658 (GRCm38) C141S possibly damaging Het
Fkbp15 G C 4: 62,306,929 (GRCm38) A831G probably benign Het
Frmd4a A T 2: 4,300,957 (GRCm38) R14S possibly damaging Het
Fzr1 A G 10: 81,370,326 (GRCm38) F176L possibly damaging Het
Garem2 A G 5: 30,116,338 (GRCm38) D565G probably damaging Het
Iqca G T 1: 90,070,535 (GRCm38) T549K probably damaging Het
Itgax T A 7: 128,140,475 (GRCm38) S686R probably damaging Het
Knop1 C A 7: 118,846,082 (GRCm38) G220C probably damaging Het
Lyzl1 T A 18: 4,169,142 (GRCm38) C49S probably damaging Het
Mpzl1 A T 1: 165,605,611 (GRCm38) I157K probably benign Het
Mrgprb2 T C 7: 48,552,513 (GRCm38) I155V probably benign Het
Mvb12b T C 2: 33,827,716 (GRCm38) T167A probably benign Het
Myh3 A G 11: 67,088,619 (GRCm38) N491S probably benign Het
Myo5b A G 18: 74,654,057 (GRCm38) D511G possibly damaging Het
Olfr1053 T G 2: 86,315,214 (GRCm38) Q24P probably damaging Het
Olfr1329 C T 4: 118,916,838 (GRCm38) V210I probably benign Het
Olfr449 C T 6: 42,838,246 (GRCm38) R122C probably damaging Het
Olfr749 T C 14: 50,737,052 (GRCm38) T37A probably benign Het
Ptcd1 A G 5: 145,154,861 (GRCm38) M476T probably damaging Het
Pum3 A G 19: 27,421,295 (GRCm38) probably null Het
Ranbp2 G A 10: 58,485,836 (GRCm38) D2652N probably damaging Het
Rassf1 T C 9: 107,558,014 (GRCm38) V166A probably damaging Het
Rictor A G 15: 6,783,104 (GRCm38) H907R probably benign Het
Rorb T C 19: 18,988,107 (GRCm38) E6G probably damaging Het
Serpina3f A T 12: 104,216,923 (GRCm38) T15S possibly damaging Het
Sorbs2 T C 8: 45,759,189 (GRCm38) L100P probably damaging Het
Sprr2k T C 3: 92,433,348 (GRCm38) probably benign Het
Srrm2 T A 17: 23,821,386 (GRCm38) S2431T probably damaging Het
Stox2 T A 8: 47,413,137 (GRCm38) K57* probably null Het
Ttc21a G A 9: 119,941,261 (GRCm38) V133I probably benign Het
Vasn T C 16: 4,650,162 (GRCm38) Y658H possibly damaging Het
Zfp251 A G 15: 76,870,327 (GRCm38) Y35H probably damaging Het
Other mutations in Capn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Capn10 APN 1 92,942,559 (GRCm38) missense probably benign 0.00
IGL01071:Capn10 APN 1 92,945,075 (GRCm38) missense probably damaging 1.00
IGL01682:Capn10 APN 1 92,940,384 (GRCm38) missense probably benign 0.16
IGL01771:Capn10 APN 1 92,940,365 (GRCm38) missense probably damaging 1.00
IGL02952:Capn10 APN 1 92,945,174 (GRCm38) missense probably damaging 0.97
IGL03177:Capn10 APN 1 92,934,982 (GRCm38) missense probably benign 0.02
IGL03224:Capn10 APN 1 92,939,324 (GRCm38) missense probably damaging 1.00
P4717OSA:Capn10 UTSW 1 92,939,394 (GRCm38) missense probably damaging 1.00
R1256:Capn10 UTSW 1 92,946,946 (GRCm38) missense probably damaging 1.00
R1405:Capn10 UTSW 1 92,945,022 (GRCm38) missense probably benign 0.34
R1405:Capn10 UTSW 1 92,945,022 (GRCm38) missense probably benign 0.34
R1653:Capn10 UTSW 1 92,946,898 (GRCm38) missense probably damaging 1.00
R1737:Capn10 UTSW 1 92,934,955 (GRCm38) missense probably benign 0.10
R2127:Capn10 UTSW 1 92,938,034 (GRCm38) nonsense probably null
R2433:Capn10 UTSW 1 92,942,525 (GRCm38) missense probably benign 0.22
R2484:Capn10 UTSW 1 92,944,843 (GRCm38) missense probably damaging 0.97
R4004:Capn10 UTSW 1 92,940,591 (GRCm38) missense probably damaging 0.98
R4005:Capn10 UTSW 1 92,940,591 (GRCm38) missense probably damaging 0.98
R4560:Capn10 UTSW 1 92,939,362 (GRCm38) missense probably damaging 1.00
R4684:Capn10 UTSW 1 92,943,781 (GRCm38) missense probably damaging 1.00
R4766:Capn10 UTSW 1 92,943,419 (GRCm38) missense probably damaging 0.98
R4996:Capn10 UTSW 1 92,945,136 (GRCm38) missense probably damaging 1.00
R5665:Capn10 UTSW 1 92,937,931 (GRCm38) splice site probably null
R5937:Capn10 UTSW 1 92,939,383 (GRCm38) missense probably damaging 1.00
R6985:Capn10 UTSW 1 92,943,424 (GRCm38) missense probably damaging 1.00
R7140:Capn10 UTSW 1 92,945,271 (GRCm38) missense possibly damaging 0.85
R7495:Capn10 UTSW 1 92,943,370 (GRCm38) missense probably damaging 1.00
R8170:Capn10 UTSW 1 92,934,964 (GRCm38) missense probably damaging 0.98
R8393:Capn10 UTSW 1 92,943,408 (GRCm38) missense probably benign 0.09
R8943:Capn10 UTSW 1 92,943,732 (GRCm38) missense probably damaging 1.00
R9303:Capn10 UTSW 1 92,943,943 (GRCm38) critical splice donor site probably null
R9305:Capn10 UTSW 1 92,943,943 (GRCm38) critical splice donor site probably null
R9655:Capn10 UTSW 1 92,939,389 (GRCm38) missense probably damaging 1.00
R9776:Capn10 UTSW 1 92,943,864 (GRCm38) missense possibly damaging 0.67
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-01-03