Incidental Mutation 'R1946:Capn13'
ID 216719
Institutional Source Beutler Lab
Gene Symbol Capn13
Ensembl Gene ENSMUSG00000043705
Gene Name calpain 13
Synonyms LOC381122
MMRRC Submission 039964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R1946 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 73613451-73706376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73657520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 240 (E240G)
Ref Sequence ENSEMBL: ENSMUSP00000092832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095208]
AlphaFold Q3UW68
Predicted Effect possibly damaging
Transcript: ENSMUST00000095208
AA Change: E240G

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: E240G

DomainStartEndE-ValueType
CysPc 12 337 3.23e-113 SMART
Pfam:Calpain_III 341 473 2e-13 PFAM
SCOP:d1k94a_ 512 664 3e-8 SMART
Meta Mutation Damage Score 0.2096 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,039,551 (GRCm39) S253P probably damaging Het
Adamts5 C A 16: 85,696,131 (GRCm39) C342F probably damaging Het
Adgrv1 C T 13: 81,522,368 (GRCm39) C5923Y probably damaging Het
Aen G C 7: 78,552,420 (GRCm39) E32Q probably damaging Het
Apba2 T C 7: 64,394,378 (GRCm39) probably null Het
Arhgap44 A G 11: 64,902,922 (GRCm39) M509T probably damaging Het
Arpc1b A G 5: 145,059,443 (GRCm39) T56A probably null Het
Atoh1 T C 6: 64,706,443 (GRCm39) V46A probably benign Het
Bmpr2 T C 1: 59,907,556 (GRCm39) V883A possibly damaging Het
Bpifa1 A T 2: 153,987,554 (GRCm39) I135F probably damaging Het
Bsn A G 9: 107,991,850 (GRCm39) F1301L probably damaging Het
Ccdc18 A G 5: 108,376,861 (GRCm39) E1434G probably damaging Het
Coq8b G A 7: 26,939,299 (GRCm39) V150I possibly damaging Het
Cpn1 G A 19: 43,944,957 (GRCm39) T450M probably benign Het
Dlg4 A G 11: 69,930,401 (GRCm39) Y432C probably damaging Het
Dnah8 C A 17: 30,931,359 (GRCm39) T1458K probably benign Het
Dock5 A T 14: 68,023,765 (GRCm39) M1132K probably damaging Het
Dsg2 A G 18: 20,713,605 (GRCm39) D192G probably damaging Het
F930017D23Rik G A 10: 43,469,440 (GRCm39) noncoding transcript Het
Fndc11 A T 2: 180,863,627 (GRCm39) D144V probably benign Het
Fut2 A G 7: 45,300,748 (GRCm39) F8S probably damaging Het
Gad2 A T 2: 22,575,440 (GRCm39) T515S probably benign Het
Ganab T A 19: 8,888,172 (GRCm39) D439E probably damaging Het
Gm10228 C A 16: 88,838,241 (GRCm39) G21V unknown Het
Grm3 A G 5: 9,562,123 (GRCm39) W576R probably damaging Het
Gsdmc4 C A 15: 63,774,629 (GRCm39) D51Y probably benign Het
Hmcn2 T C 2: 31,295,647 (GRCm39) S2619P probably damaging Het
Kcnq2 T A 2: 180,730,244 (GRCm39) D446V probably benign Het
Kera A G 10: 97,445,009 (GRCm39) K123E probably benign Het
Kmt2c A T 5: 25,520,152 (GRCm39) V1986E probably benign Het
Lrp11 T C 10: 7,499,540 (GRCm39) Y244H probably damaging Het
Lrp1b T A 2: 40,555,159 (GRCm39) D320V unknown Het
Lrrcc1 A G 3: 14,615,453 (GRCm39) R394G probably benign Het
Lrrk2 G A 15: 91,620,864 (GRCm39) probably null Het
Map4k5 A T 12: 69,892,529 (GRCm39) D133E probably damaging Het
Megf11 A T 9: 64,586,558 (GRCm39) D461V probably damaging Het
Msrb3 A G 10: 120,687,913 (GRCm39) V54A probably damaging Het
Muc21 A T 17: 35,933,416 (GRCm39) probably benign Het
Ncoa3 T A 2: 165,901,097 (GRCm39) N896K possibly damaging Het
Ncor2 G A 5: 125,111,476 (GRCm39) T1314I probably damaging Het
Nes A G 3: 87,885,821 (GRCm39) Q1316R possibly damaging Het
Nfe2l3 A C 6: 51,434,295 (GRCm39) Q285P probably damaging Het
Nkd1 C T 8: 89,318,745 (GRCm39) H357Y probably damaging Het
Nmt2 T A 2: 3,323,672 (GRCm39) I355N probably benign Het
Or10ak11 T C 4: 118,687,223 (GRCm39) N139S probably benign Het
Or1n1b A T 2: 36,780,458 (GRCm39) M134K possibly damaging Het
Or5ae1 T C 7: 84,565,487 (GRCm39) S167P probably benign Het
Or5b3 T C 19: 13,388,143 (GRCm39) V70A possibly damaging Het
Or7a38 T A 10: 78,752,758 (GRCm39) I28N probably damaging Het
Or8b3 T A 9: 38,314,182 (GRCm39) M1K probably null Het
Otx1 G T 11: 21,948,482 (GRCm39) T46K probably damaging Het
Panx1 A G 9: 14,918,822 (GRCm39) C346R probably benign Het
Pcdhb16 T A 18: 37,611,952 (GRCm39) L304* probably null Het
Plet1 A G 9: 50,415,652 (GRCm39) probably null Het
Plod2 A G 9: 92,489,188 (GRCm39) S707G probably damaging Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Ppp1r12b A G 1: 134,820,008 (GRCm39) V245A probably damaging Het
Ppp2r2d A G 7: 138,470,196 (GRCm39) D19G probably damaging Het
Pramel31 T A 4: 144,088,435 (GRCm39) V77E probably benign Het
Rimbp3 G A 16: 17,028,291 (GRCm39) V572I probably benign Het
Ror2 T C 13: 53,285,885 (GRCm39) I110V probably damaging Het
Sec24d A T 3: 123,147,043 (GRCm39) H667L probably benign Het
Sema3d A G 5: 12,623,810 (GRCm39) Q573R probably damaging Het
Snx19 T A 9: 30,343,620 (GRCm39) N593K probably damaging Het
Sulf1 T C 1: 12,867,131 (GRCm39) V105A probably benign Het
Syngr3 T C 17: 24,906,680 (GRCm39) N45S probably benign Het
Tenm4 A T 7: 96,385,015 (GRCm39) H524L probably damaging Het
Tex30 C T 1: 44,130,564 (GRCm39) G68D probably damaging Het
Tmem43 A T 6: 91,463,891 (GRCm39) I389F probably benign Het
Trpm1 A T 7: 63,873,556 (GRCm39) N488Y probably damaging Het
Usf2 T C 7: 30,655,663 (GRCm39) T1A probably null Het
Vill A T 9: 118,887,560 (GRCm39) H108L probably benign Het
Vmn1r16 T C 6: 57,299,885 (GRCm39) I246V probably benign Het
Vmn1r188 T G 13: 22,272,815 (GRCm39) S256R possibly damaging Het
Zfp12 G A 5: 143,231,133 (GRCm39) E487K probably damaging Het
Zfp24 AC A 18: 24,147,476 (GRCm39) probably null 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
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
R9193:Capn13 UTSW 17 73,652,191 (GRCm39) missense probably damaging 1.00
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'- AGGCATCTGATTCTGGTTCCC -3'
(R):5'- AGCATGAACTATTGAGACCTCTC -3'

Sequencing Primer
(F):5'- TCCCGTGTAGAGGATCTCAG -3'
(R):5'- ACAAGAAGTGTTATACTCTCTCTCTC -3'
Posted On 2014-08-01