Incidental Mutation 'R9776:Capn10'
ID 733666
Institutional Source Beutler Lab
Gene Symbol Capn10
Ensembl Gene ENSMUSG00000026270
Gene Name calpain 10
Synonyms Capn8
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R9776 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 92862130-92875670 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 92871586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 395 (A395S)
Ref Sequence ENSEMBL: ENSMUSP00000027488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027488] [ENSMUST00000117814] [ENSMUST00000152983]
AlphaFold Q9ESK3
Predicted Effect possibly damaging
Transcript: ENSMUST00000027488
AA Change: A395S

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
AA Change: A395S

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 probably benign
Transcript: ENSMUST00000152983
AA Change: A395S

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122158
Gene: ENSMUSG00000026270
AA Change: A395S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.5%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T G 5: 113,861,765 (GRCm39) Q35P unknown Het
2010109A12Rik T A 5: 93,361,305 (GRCm39) *120K probably null Het
2700049A03Rik A G 12: 71,235,448 (GRCm39) T1133A possibly damaging Het
A830005F24Rik G A 13: 48,667,758 (GRCm39) R20Q unknown Het
Acta2 T C 19: 34,223,481 (GRCm39) T205A probably benign Het
Adcy5 A G 16: 35,100,725 (GRCm39) D759G probably damaging Het
Ankk1 T A 9: 49,330,714 (GRCm39) M276L probably benign Het
Arfgef2 G A 2: 166,713,447 (GRCm39) E1283K probably damaging Het
Arhgef26 G T 3: 62,246,803 (GRCm39) probably benign Het
Arhgef28 A C 13: 98,133,415 (GRCm39) S351A probably benign Het
Arih2 C T 9: 108,484,504 (GRCm39) G436S probably damaging Het
Bptf T C 11: 106,969,396 (GRCm39) T1013A probably damaging Het
Camsap1 A T 2: 25,828,166 (GRCm39) V1186E probably benign Het
Ccdc184 A T 15: 98,066,737 (GRCm39) T181S probably damaging Het
Clasp1 T C 1: 118,509,108 (GRCm39) I1345T possibly damaging Het
Cpsf1 A T 15: 76,486,779 (GRCm39) H252Q probably damaging Het
Ctnna2 T A 6: 77,582,172 (GRCm39) M363L probably benign Het
Cyp24a1 G A 2: 170,338,625 (GRCm39) P24S probably benign Het
D130040H23Rik A G 8: 69,755,566 (GRCm39) H341R probably damaging Het
Dclk3 A G 9: 111,298,226 (GRCm39) E590G probably damaging Het
Ear2 A T 14: 44,340,729 (GRCm39) Y129F probably benign Het
Egf A G 3: 129,530,514 (GRCm39) L216P probably damaging Het
Fbxw9 T A 8: 85,792,523 (GRCm39) H319Q probably damaging Het
Gipr A G 7: 18,891,487 (GRCm39) S397P probably damaging Het
Gxylt2 G T 6: 100,682,072 (GRCm39) E90* probably null Het
Hnf1b T C 11: 83,784,283 (GRCm39) V473A probably benign Het
Iffo1 G A 6: 125,130,436 (GRCm39) E475K probably damaging Het
Ifi206 T A 1: 173,308,075 (GRCm39) R640S Het
Ipmk A G 10: 71,217,439 (GRCm39) S328G probably damaging Het
Kcnq1 A T 7: 142,737,368 (GRCm39) I229F probably damaging Het
Kif9 C A 9: 110,350,398 (GRCm39) T763N probably benign Het
Klhl36 C T 8: 120,601,129 (GRCm39) Q383* probably null Het
Lrp4 G T 2: 91,316,179 (GRCm39) V766F probably damaging Het
Mettl26 T A 17: 26,094,511 (GRCm39) M3K probably benign Het
Muc16 T A 9: 18,570,675 (GRCm39) I615F unknown Het
Myo7b T A 18: 32,133,068 (GRCm39) Q427L probably benign Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Ncapg G A 5: 45,829,834 (GRCm39) V179I probably damaging Het
Nme4 C T 17: 26,314,410 (GRCm39) G6E possibly damaging Het
Nr1h4 T C 10: 89,319,311 (GRCm39) Y185C probably damaging Het
Nt5c3b T C 11: 100,327,012 (GRCm39) I95V probably benign Het
Ntaq1 A G 15: 58,004,913 (GRCm39) T9A probably benign Het
Or2y3 C T 17: 38,393,470 (GRCm39) R133H probably benign Het
Or5g9 A T 2: 85,552,145 (GRCm39) Y132F probably damaging Het
Or5t16 A T 2: 86,819,055 (GRCm39) I155N probably damaging Het
Pappa2 G T 1: 158,611,481 (GRCm39) P1494Q probably damaging Het
Pdzd2 A G 15: 12,457,909 (GRCm39) F144S probably benign Het
Phactr3 A G 2: 177,975,896 (GRCm39) H547R probably damaging Het
Pik3c2b T A 1: 133,018,588 (GRCm39) S1012T possibly damaging Het
Plppr2 G A 9: 21,859,107 (GRCm39) G408D probably damaging Het
Pom121 T A 5: 135,420,554 (GRCm39) N289I unknown Het
Ppa1 T A 10: 61,487,362 (GRCm39) S30T probably damaging Het
Rgs5 A T 1: 169,518,089 (GRCm39) K108* probably null Het
Rpap1 A G 2: 119,607,278 (GRCm39) V287A probably benign Het
Ryr1 A G 7: 28,774,664 (GRCm39) Y2326H probably damaging Het
Ryr2 A G 13: 11,707,599 (GRCm39) S2813P probably damaging Het
Sap25 T C 5: 137,640,702 (GRCm39) probably null Het
Senp5 T C 16: 31,782,279 (GRCm39) Y739C probably damaging Het
Slc25a29 A T 12: 108,793,017 (GRCm39) L187Q possibly damaging Het
Slc7a2 C T 8: 41,358,641 (GRCm39) T328M probably damaging Het
Slc7a8 T C 14: 55,018,759 (GRCm39) N9S probably benign Het
Snx18 A G 13: 113,754,039 (GRCm39) V298A probably benign Het
Spo11 T A 2: 172,833,904 (GRCm39) I342N possibly damaging Het
Ssc5d A G 7: 4,932,367 (GRCm39) K344E probably benign Het
Sspo A T 6: 48,439,269 (GRCm39) D1639V probably benign Het
Stk32b T C 5: 37,617,001 (GRCm39) D285G probably benign Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Syt5 A G 7: 4,544,831 (GRCm39) L274P probably damaging Het
Tas1r2 T C 4: 139,396,208 (GRCm39) S545P possibly damaging Het
Tbc1d17 T G 7: 44,490,696 (GRCm39) D632A probably damaging Het
Tbc1d2 A G 4: 46,650,007 (GRCm39) S10P probably benign Het
Tlk1 A T 2: 70,555,908 (GRCm39) I417N probably damaging Het
Tmem184a C T 5: 139,791,984 (GRCm39) R348H possibly damaging Het
Togaram2 T A 17: 72,023,508 (GRCm39) V808D possibly damaging Het
Tpr A G 1: 150,324,939 (GRCm39) Q2397R probably benign Het
Trav7-4 A G 14: 53,698,994 (GRCm39) D47G possibly damaging Het
Usp17le T A 7: 104,419,814 (GRCm39) M35L probably benign Het
Vegfc C T 8: 54,633,829 (GRCm39) S262L probably benign Het
Vmn2r74 T A 7: 85,605,212 (GRCm39) I479L possibly damaging Het
Vps13a A T 19: 16,736,958 (GRCm39) F126L probably benign Het
Zfp945 C A 17: 23,070,582 (GRCm39) C460F possibly damaging Het
Zmym4 G T 4: 126,804,942 (GRCm39) S439R possibly damaging Het
Zscan4-ps3 A G 7: 11,344,093 (GRCm39) E17G probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCACTAGAGAGGGTGCTGTG -3'
(R):5'- TGTAGAGATCAAGCTAGCCTCC -3'

Sequencing Primer
(F):5'- CTAGAGAGGGTGCTGTGCCATAC -3'
(R):5'- GGACTTTGAATCAGCTGCTTCCG -3'
Posted On 2022-11-14