Incidental Mutation 'R5671:Capn11'
ID 442646
Institutional Source Beutler Lab
Gene Symbol Capn11
Ensembl Gene ENSMUSG00000058626
Gene Name calpain 11
Synonyms
MMRRC Submission 043314-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5671 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 45941130-45970251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45950600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 293 (R293Q)
Ref Sequence ENSEMBL: ENSMUSP00000113132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120717] [ENSMUST00000151350]
AlphaFold Q6J756
Predicted Effect possibly damaging
Transcript: ENSMUST00000120717
AA Change: R293Q

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
AA Change: R293Q

DomainStartEndE-ValueType
CysPc 37 362 2.75e-157 SMART
calpain_III 366 523 2.57e-84 SMART
EFh 590 618 3.91e-4 SMART
EFh 620 648 6.88e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151350
SMART Domains Protein: ENSMUSP00000119679
Gene: ENSMUSG00000058626

DomainStartEndE-ValueType
Pfam:Peptidase_C2 94 153 1.5e-14 PFAM
low complexity region 163 174 N/A INTRINSIC
Meta Mutation Damage Score 0.0732 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ak2 T A 4: 128,902,040 (GRCm39) F238I probably damaging Het
Akap8l T C 17: 32,557,266 (GRCm39) Y115C probably damaging Het
Alms1 T A 6: 85,606,190 (GRCm39) N2613K possibly damaging Het
Antxr1 C T 6: 87,194,255 (GRCm39) probably null Het
Ap3b1 A T 13: 94,664,765 (GRCm39) R901S unknown Het
Arhgap45 A G 10: 79,861,310 (GRCm39) E491G probably damaging Het
Cdx1 C T 18: 61,152,971 (GRCm39) V212I probably benign Het
Clca4b G A 3: 144,627,624 (GRCm39) T449I probably benign Het
Clec14a T C 12: 58,314,612 (GRCm39) I337V probably benign Het
Clip4 A C 17: 72,096,878 (GRCm39) M1L probably damaging Het
Exoc3l4 T C 12: 111,389,851 (GRCm39) I142T probably damaging Het
Flnb T A 14: 7,890,843 (GRCm38) I575N probably benign Het
Gad1-ps A T 10: 99,280,395 (GRCm39) noncoding transcript Het
Golga7 C T 8: 23,740,360 (GRCm39) A57T probably damaging Het
Gpa33 A G 1: 165,974,360 (GRCm39) T66A possibly damaging Het
Gpr141b A G 13: 19,913,465 (GRCm39) noncoding transcript Het
Gpr45 A G 1: 43,072,218 (GRCm39) Y287C probably damaging Het
H2-Eb1 C A 17: 34,533,229 (GRCm39) Y150* probably null Het
Hsd17b8 T C 17: 34,245,435 (GRCm39) D233G probably null Het
Ifna6 A T 4: 88,745,906 (GRCm39) Q85L probably damaging Het
Igkv9-120 G A 6: 68,027,257 (GRCm39) W57* probably null Het
Ivns1abp G T 1: 151,229,760 (GRCm39) L149F probably benign Het
Kank4 A G 4: 98,653,698 (GRCm39) probably null Het
Lama2 A T 10: 27,066,540 (GRCm39) C1114S probably damaging Het
Lmbr1l A C 15: 98,805,489 (GRCm39) D337E possibly damaging Het
Ly75 T C 2: 60,138,655 (GRCm39) D1404G probably damaging Het
Muc4 A G 16: 32,575,011 (GRCm39) T1199A probably benign Het
Nalcn A G 14: 123,532,818 (GRCm39) I1314T probably damaging Het
Nhlrc1 A G 13: 47,167,193 (GRCm39) F355L probably benign Het
Or2y16 T C 11: 49,335,140 (GRCm39) V154A probably benign Het
Or4k39 C T 2: 111,238,818 (GRCm39) noncoding transcript Het
Or5b21 A T 19: 12,839,171 (GRCm39) T11S probably benign Het
Pcsk1 A G 13: 75,246,026 (GRCm39) T135A possibly damaging Het
Ptpru T A 4: 131,547,501 (GRCm39) Y112F possibly damaging Het
Rbbp8 A G 18: 11,875,699 (GRCm39) S871G probably benign Het
Rhoj A T 12: 75,440,743 (GRCm39) I135F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Semp2l2b T A 10: 21,942,742 (GRCm39) T413S possibly damaging Het
Ska1 G T 18: 74,330,067 (GRCm39) D224E probably damaging Het
Slc11a2 A G 15: 100,301,169 (GRCm39) Y295H probably damaging Het
Slc22a28 A T 19: 8,108,795 (GRCm39) C116S probably damaging Het
Synpo T C 18: 60,729,022 (GRCm39) D1060G probably damaging Het
Tectb T C 19: 55,181,059 (GRCm39) S310P probably benign Het
Tmc6 A G 11: 117,666,441 (GRCm39) S288P possibly damaging Het
Tpo A G 12: 30,169,490 (GRCm39) S82P probably benign Het
Ttyh3 T A 5: 140,617,307 (GRCm39) M321L probably benign Het
Usp8 A G 2: 126,584,345 (GRCm39) D518G probably benign Het
Vmn2r11 A G 5: 109,202,772 (GRCm39) W102R probably benign Het
Vps13a G A 19: 16,692,464 (GRCm39) H817Y probably benign Het
Vps51 A G 19: 6,118,224 (GRCm39) V757A probably benign Het
Washc4 T C 10: 83,405,892 (GRCm39) S463P probably damaging Het
Zfp423 T C 8: 88,508,955 (GRCm39) N442S probably damaging Het
Other mutations in Capn11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Capn11 APN 17 45,954,693 (GRCm39) missense probably damaging 1.00
IGL01116:Capn11 APN 17 45,949,806 (GRCm39) unclassified probably benign
IGL01121:Capn11 APN 17 45,950,058 (GRCm39) missense probably benign 0.04
IGL01366:Capn11 APN 17 45,964,126 (GRCm39) missense probably damaging 1.00
IGL01533:Capn11 APN 17 45,943,830 (GRCm39) missense probably benign
IGL01595:Capn11 APN 17 45,950,360 (GRCm39) missense probably benign 0.02
IGL02197:Capn11 APN 17 45,950,782 (GRCm39) missense probably benign 0.14
IGL02683:Capn11 APN 17 45,964,517 (GRCm39) missense probably damaging 1.00
IGL02696:Capn11 APN 17 45,943,635 (GRCm39) missense probably damaging 1.00
IGL02711:Capn11 APN 17 45,943,341 (GRCm39) missense probably damaging 1.00
IGL02900:Capn11 APN 17 45,941,540 (GRCm39) splice site probably null
IGL03033:Capn11 APN 17 45,953,473 (GRCm39) missense probably damaging 1.00
R0883:Capn11 UTSW 17 45,949,807 (GRCm39) unclassified probably benign
R1494:Capn11 UTSW 17 45,954,735 (GRCm39) missense probably damaging 1.00
R1735:Capn11 UTSW 17 45,943,327 (GRCm39) nonsense probably null
R1785:Capn11 UTSW 17 45,949,623 (GRCm39) missense probably benign 0.02
R1952:Capn11 UTSW 17 45,953,885 (GRCm39) missense probably damaging 1.00
R2149:Capn11 UTSW 17 45,944,033 (GRCm39) critical splice acceptor site probably null
R2397:Capn11 UTSW 17 45,964,147 (GRCm39) missense probably damaging 1.00
R2495:Capn11 UTSW 17 45,949,689 (GRCm39) missense probably damaging 0.97
R2516:Capn11 UTSW 17 45,944,725 (GRCm39) missense probably damaging 0.98
R3934:Capn11 UTSW 17 45,945,213 (GRCm39) splice site probably benign
R4016:Capn11 UTSW 17 45,964,682 (GRCm39) missense probably damaging 1.00
R4226:Capn11 UTSW 17 45,953,392 (GRCm39) critical splice donor site probably null
R4227:Capn11 UTSW 17 45,953,392 (GRCm39) critical splice donor site probably null
R4774:Capn11 UTSW 17 45,944,006 (GRCm39) missense probably benign 0.00
R4892:Capn11 UTSW 17 45,944,023 (GRCm39) frame shift probably null
R5244:Capn11 UTSW 17 45,944,818 (GRCm39) missense probably damaging 1.00
R5667:Capn11 UTSW 17 45,950,600 (GRCm39) missense possibly damaging 0.87
R5991:Capn11 UTSW 17 45,970,278 (GRCm39) splice site probably null
R6180:Capn11 UTSW 17 45,941,692 (GRCm39) missense probably damaging 1.00
R6193:Capn11 UTSW 17 45,964,430 (GRCm39) critical splice donor site probably null
R6774:Capn11 UTSW 17 45,968,256 (GRCm39) intron probably benign
R7047:Capn11 UTSW 17 45,949,622 (GRCm39) nonsense probably null
R7302:Capn11 UTSW 17 45,954,738 (GRCm39) missense probably damaging 1.00
R7516:Capn11 UTSW 17 45,949,766 (GRCm39) missense possibly damaging 0.95
R7563:Capn11 UTSW 17 45,944,891 (GRCm39) missense probably damaging 0.99
R7718:Capn11 UTSW 17 45,954,707 (GRCm39) missense probably damaging 1.00
R7999:Capn11 UTSW 17 45,950,132 (GRCm39) missense probably damaging 1.00
R8058:Capn11 UTSW 17 45,954,681 (GRCm39) missense probably null 1.00
R8194:Capn11 UTSW 17 45,944,325 (GRCm39) missense probably damaging 0.96
R8737:Capn11 UTSW 17 45,943,801 (GRCm39) missense probably benign 0.01
R8989:Capn11 UTSW 17 45,954,783 (GRCm39) missense probably damaging 1.00
R9037:Capn11 UTSW 17 45,950,357 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCTGTACCCGAACATCTG -3'
(R):5'- TGCGAGGACATGCTTATGC -3'

Sequencing Primer
(F):5'- TGTACCCGAACATCTGGGCTC -3'
(R):5'- CTTATGCAGTGACTGGCCTAGAG -3'
Posted On 2016-11-09