Incidental Mutation 'R9193:Capn13'
ID 697840
Institutional Source Beutler Lab
Gene Symbol Capn13
Ensembl Gene ENSMUSG00000043705
Gene Name calpain 13
Synonyms LOC381122
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R9193 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 73613451-73706376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73652191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 266 (I266N)
Ref Sequence ENSEMBL: ENSMUSP00000092832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095208]
AlphaFold Q3UW68
Predicted Effect probably damaging
Transcript: ENSMUST00000095208
AA Change: I266N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: I266N

DomainStartEndE-ValueType
CysPc 12 337 3.23e-113 SMART
Pfam:Calpain_III 341 473 2e-13 PFAM
SCOP:d1k94a_ 512 664 3e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak1 A T 2: 32,520,391 (GRCm39) K79M probably benign Het
Amy1 T C 3: 113,356,278 (GRCm39) K293E probably benign Het
Bcl2l10 A G 9: 75,255,333 (GRCm39) Q50R probably benign Het
Bpifa6 G A 2: 153,826,740 (GRCm39) G35D probably benign Het
Cachd1 C A 4: 100,634,339 (GRCm39) P5Q unknown Het
Chil3 A G 3: 106,063,081 (GRCm39) S170P possibly damaging Het
Ckap4 A G 10: 84,363,350 (GRCm39) I571T probably damaging Het
Col14a1 A G 15: 55,242,964 (GRCm39) M371V unknown Het
Dag1 A G 9: 108,085,467 (GRCm39) L558P possibly damaging Het
Edem3 G A 1: 151,694,270 (GRCm39) E868K probably benign Het
Eif3k T C 7: 28,673,624 (GRCm39) Y150C probably damaging Het
Farp1 T C 14: 121,518,281 (GRCm39) I988T probably benign Het
Fat3 A G 9: 15,910,248 (GRCm39) M1918T probably benign Het
Gba2 A G 4: 43,578,112 (GRCm39) I79T probably benign Het
Gbp8 T C 5: 105,179,169 (GRCm39) D110G probably damaging Het
Gm57858 G T 3: 36,089,428 (GRCm39) N165K probably benign Het
H2-M2 T A 17: 37,793,428 (GRCm39) M193L probably benign Het
H2-T13 A G 17: 36,391,956 (GRCm39) V39A possibly damaging Het
Ighv7-1 T A 12: 113,860,110 (GRCm39) D94V probably damaging Het
Il2ra T C 2: 11,689,202 (GRCm39) F244L possibly damaging Het
Jag1 A T 2: 136,931,764 (GRCm39) H602Q probably null Het
Kidins220 A T 12: 25,036,966 (GRCm39) I16F possibly damaging Het
Klb A G 5: 65,529,368 (GRCm39) T299A possibly damaging Het
Lama4 A G 10: 38,951,444 (GRCm39) K1063R probably benign Het
Lrit2 A G 14: 36,794,550 (GRCm39) E538G possibly damaging Het
Lrrc7 A T 3: 158,059,011 (GRCm39) L32* probably null Het
Lrrtm3 A T 10: 63,765,883 (GRCm39) I568N probably damaging Het
Myom1 A G 17: 71,343,295 (GRCm39) D164G probably damaging Het
Naaladl2 T C 3: 23,900,742 (GRCm39) D696G probably damaging Het
Nalcn A T 14: 123,545,792 (GRCm39) L1073* probably null Het
Nid2 T C 14: 19,853,278 (GRCm39) S1166P probably damaging Het
Nlrp4c T C 7: 6,095,621 (GRCm39) V833A probably benign Het
Nyap2 T C 1: 81,275,712 (GRCm39) S619P probably damaging Het
Or10d5j T C 9: 39,867,878 (GRCm39) M118V probably damaging Het
Or2a20 A T 6: 43,194,086 (GRCm39) T80S probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Or8k16 C A 2: 85,520,644 (GRCm39) Y290* probably null Het
P3h2 T C 16: 25,923,991 (GRCm39) N148S probably benign Het
P4htm A G 9: 108,460,081 (GRCm39) M231T probably damaging Het
Pank1 T A 19: 34,804,634 (GRCm39) K349I possibly damaging Het
Pgam5 A G 5: 110,413,466 (GRCm39) Y210H probably benign Het
Prb1b T C 6: 132,288,996 (GRCm39) H276R unknown Het
Prl2a1 T A 13: 27,992,535 (GRCm39) C220S probably damaging Het
Psca C T 15: 74,587,932 (GRCm39) Q39* probably null Het
Rgs20 A T 1: 5,091,067 (GRCm39) M121K possibly damaging Het
S100z C T 13: 95,613,883 (GRCm39) V76M possibly damaging Het
Slc30a10 T C 1: 185,195,034 (GRCm39) I282T probably damaging Het
Slc30a3 T C 5: 31,246,088 (GRCm39) Y214C probably damaging Het
Sox5 C T 6: 143,790,570 (GRCm39) E497K probably benign Het
Spata31g1 A G 4: 42,971,519 (GRCm39) D284G probably benign Het
Sptbn1 C T 11: 30,087,551 (GRCm39) E963K possibly damaging Het
Srl T C 16: 4,311,723 (GRCm39) E465G possibly damaging Het
Tacc2 T C 7: 130,228,304 (GRCm39) M1663T probably benign Het
Tas2r119 T G 15: 32,177,932 (GRCm39) V166G probably benign Het
Tcf7l1 A G 6: 72,611,205 (GRCm39) V191A probably damaging Het
Thap7 A T 16: 17,346,901 (GRCm39) I92K probably damaging Het
Tnfsf10 A G 3: 27,371,407 (GRCm39) T38A possibly damaging Het
Trav7-5 C G 14: 53,768,615 (GRCm39) A61G probably benign Het
Trim30c C T 7: 104,031,553 (GRCm39) V421I probably benign Het
Ugt2b38 A T 5: 87,571,729 (GRCm39) M101K probably benign Het
Vmn1r44 T A 6: 89,870,565 (GRCm39) C104S probably damaging Het
Wdr74 T A 19: 8,715,240 (GRCm39) V133E probably damaging Het
Zfp735 A T 11: 73,580,600 (GRCm39) Y33F possibly damaging Het
Other mutations in Capn13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Capn13 APN 17 73,646,420 (GRCm39) missense possibly damaging 0.82
IGL01099:Capn13 APN 17 73,658,504 (GRCm39) missense probably damaging 0.99
IGL01613:Capn13 APN 17 73,638,053 (GRCm39) missense probably benign 0.07
IGL02215:Capn13 APN 17 73,637,993 (GRCm39) missense probably damaging 1.00
IGL02403:Capn13 APN 17 73,658,421 (GRCm39) missense possibly damaging 0.82
IGL02877:Capn13 APN 17 73,629,050 (GRCm39) missense probably damaging 0.97
IGL03113:Capn13 APN 17 73,638,108 (GRCm39) missense probably benign 0.00
IGL03246:Capn13 APN 17 73,689,855 (GRCm39) missense probably benign
IGL03369:Capn13 APN 17 73,648,149 (GRCm39) splice site probably benign
R0116:Capn13 UTSW 17 73,658,519 (GRCm39) missense probably damaging 1.00
R0729:Capn13 UTSW 17 73,629,064 (GRCm39) missense probably damaging 1.00
R0745:Capn13 UTSW 17 73,658,503 (GRCm39) missense probably benign 0.39
R0746:Capn13 UTSW 17 73,658,503 (GRCm39) missense probably benign 0.39
R0778:Capn13 UTSW 17 73,658,503 (GRCm39) missense probably benign 0.39
R1252:Capn13 UTSW 17 73,674,222 (GRCm39) missense possibly damaging 0.80
R1594:Capn13 UTSW 17 73,658,474 (GRCm39) missense probably benign 0.15
R1641:Capn13 UTSW 17 73,689,889 (GRCm39) missense possibly damaging 0.91
R1895:Capn13 UTSW 17 73,657,520 (GRCm39) missense possibly damaging 0.50
R1902:Capn13 UTSW 17 73,633,356 (GRCm39) missense probably damaging 1.00
R1946:Capn13 UTSW 17 73,657,520 (GRCm39) missense possibly damaging 0.50
R2184:Capn13 UTSW 17 73,672,943 (GRCm39) missense probably damaging 1.00
R2427:Capn13 UTSW 17 73,633,312 (GRCm39) splice site probably benign
R2963:Capn13 UTSW 17 73,622,258 (GRCm39) critical splice donor site probably null
R3755:Capn13 UTSW 17 73,638,114 (GRCm39) nonsense probably null
R3759:Capn13 UTSW 17 73,629,072 (GRCm39) missense probably benign 0.01
R3795:Capn13 UTSW 17 73,644,387 (GRCm39) missense probably benign 0.14
R3801:Capn13 UTSW 17 73,646,396 (GRCm39) missense probably benign 0.00
R3802:Capn13 UTSW 17 73,646,396 (GRCm39) missense probably benign 0.00
R3803:Capn13 UTSW 17 73,646,396 (GRCm39) missense probably benign 0.00
R3804:Capn13 UTSW 17 73,646,396 (GRCm39) missense probably benign 0.00
R4084:Capn13 UTSW 17 73,644,444 (GRCm39) missense probably benign 0.00
R4194:Capn13 UTSW 17 73,646,479 (GRCm39) missense possibly damaging 0.48
R4326:Capn13 UTSW 17 73,638,103 (GRCm39) missense probably benign
R4788:Capn13 UTSW 17 73,644,427 (GRCm39) nonsense probably null
R4852:Capn13 UTSW 17 73,658,501 (GRCm39) frame shift probably null
R4853:Capn13 UTSW 17 73,658,501 (GRCm39) frame shift probably null
R4855:Capn13 UTSW 17 73,658,501 (GRCm39) frame shift probably null
R5063:Capn13 UTSW 17 73,629,074 (GRCm39) nonsense probably null
R5112:Capn13 UTSW 17 73,658,501 (GRCm39) frame shift probably null
R5438:Capn13 UTSW 17 73,633,479 (GRCm39) missense probably benign
R5955:Capn13 UTSW 17 73,637,997 (GRCm39) missense possibly damaging 0.92
R6408:Capn13 UTSW 17 73,672,954 (GRCm39) nonsense probably null
R6512:Capn13 UTSW 17 73,689,985 (GRCm39) missense probably benign 0.44
R7425:Capn13 UTSW 17 73,625,053 (GRCm39) missense probably benign 0.13
R7605:Capn13 UTSW 17 73,652,132 (GRCm39) critical splice donor site probably null
R7678:Capn13 UTSW 17 73,622,300 (GRCm39) missense probably damaging 1.00
R7776:Capn13 UTSW 17 73,629,049 (GRCm39) missense probably benign 0.07
R7791:Capn13 UTSW 17 73,689,883 (GRCm39) missense possibly damaging 0.88
R8087:Capn13 UTSW 17 73,623,279 (GRCm39) missense probably damaging 1.00
R8090:Capn13 UTSW 17 73,689,849 (GRCm39) missense probably benign 0.07
R8122:Capn13 UTSW 17 73,674,205 (GRCm39) missense probably damaging 1.00
R8169:Capn13 UTSW 17 73,633,467 (GRCm39) splice site probably null
R8927:Capn13 UTSW 17 73,631,761 (GRCm39) splice site probably null
R9299:Capn13 UTSW 17 73,633,467 (GRCm39) splice site probably null
R9337:Capn13 UTSW 17 73,633,467 (GRCm39) splice site probably null
R9497:Capn13 UTSW 17 73,633,362 (GRCm39) missense probably benign 0.08
R9509:Capn13 UTSW 17 73,644,446 (GRCm39) missense probably benign 0.10
R9616:Capn13 UTSW 17 73,672,964 (GRCm39) missense probably benign 0.40
Z1176:Capn13 UTSW 17 73,648,105 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCCAGAGCCATAACTAGTGAT -3'
(R):5'- GGCAGCAAGAGAGACATTGATT -3'

Sequencing Primer
(F):5'- CTAGTGATGAACTGGTCAGACCTG -3'
(R):5'- GTCCTCCTCCTCGTCCTCG -3'
Posted On 2022-02-07