Incidental Mutation 'R8122:Capn13'
ID 631578
Institutional Source Beutler Lab
Gene Symbol Capn13
Ensembl Gene ENSMUSG00000043705
Gene Name calpain 13
Synonyms LOC381122
MMRRC Submission 067551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8122 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 73613451-73706376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73674205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 83 (I83F)
Ref Sequence ENSEMBL: ENSMUSP00000092832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095208]
AlphaFold Q3UW68
Predicted Effect probably damaging
Transcript: ENSMUST00000095208
AA Change: I83F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: I83F

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.5%
Validation Efficiency 98% (47/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A G 16: 8,433,761 (GRCm39) Y426C probably damaging Het
Acsbg3 T A 17: 57,193,670 (GRCm39) V672E possibly damaging Het
Adgrv1 A G 13: 81,419,037 (GRCm39) V5986A probably damaging Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Ahnak2 T C 12: 112,742,510 (GRCm39) S521G possibly damaging Het
Amer2 A T 14: 60,616,791 (GRCm39) M329L possibly damaging Het
Arhgap20 A G 9: 51,761,293 (GRCm39) N1048S probably damaging Het
Asah1 T C 8: 41,796,767 (GRCm39) E305G probably benign Het
AW551984 T A 9: 39,510,665 (GRCm39) K223N probably damaging Het
Bptf C A 11: 106,927,417 (GRCm39) probably null Het
C1qtnf6 T C 15: 78,411,446 (GRCm39) N77D probably benign Het
Cd6 A G 19: 10,770,231 (GRCm39) F487L probably damaging Het
Cit T C 5: 116,107,069 (GRCm39) V1067A probably damaging Het
Cspg4b A T 13: 113,455,442 (GRCm39) D496V Het
Csrnp1 T C 9: 119,802,273 (GRCm39) D262G probably damaging Het
Cyp2d11 T A 15: 82,276,744 (GRCm39) Q65L probably benign Het
Dbt T A 3: 116,313,891 (GRCm39) C19* probably null Het
Dgkg A C 16: 22,385,295 (GRCm39) probably null Het
Eif4g2 T C 7: 110,677,760 (GRCm39) I118V possibly damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gpr158 A T 2: 21,831,674 (GRCm39) M925L probably benign Het
Kcnn2 T G 18: 45,810,005 (GRCm39) V414G probably damaging Het
Lama2 G A 10: 26,930,592 (GRCm39) H2055Y possibly damaging Het
Loxl3 T A 6: 83,026,240 (GRCm39) W443R probably damaging Het
Mab21l1 A T 3: 55,690,905 (GRCm39) D164V probably benign Het
Mroh7 T C 4: 106,559,726 (GRCm39) T734A probably damaging Het
Or2y1f C A 11: 49,184,401 (GRCm39) N84K probably damaging Het
Or8g35 A G 9: 39,381,822 (GRCm39) S67P probably damaging Het
Pkhd1 C T 1: 20,632,682 (GRCm39) E578K probably damaging Het
Pld2 T A 11: 70,432,259 (GRCm39) L126* probably null Het
Polk A T 13: 96,620,291 (GRCm39) N716K probably benign Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Prom1 T C 5: 44,170,295 (GRCm39) K669E probably benign Het
Sag A G 1: 87,762,289 (GRCm39) D318G probably damaging Het
Scfd1 T A 12: 51,480,052 (GRCm39) V528E possibly damaging Het
Scn4a A G 11: 106,221,157 (GRCm39) L834P probably benign Het
Shank1 G T 7: 43,983,015 (GRCm39) G637V unknown Het
Slc12a6 A G 2: 112,097,167 (GRCm39) M1V probably null Het
St6gal1 A G 16: 23,173,644 (GRCm39) K242R probably benign Het
Syt3 A G 7: 44,045,153 (GRCm39) Y495C probably damaging Het
Taar8c C T 10: 23,977,107 (GRCm39) S235N probably benign Het
Tmem183a A T 1: 134,282,503 (GRCm39) C201S probably benign Het
Top2a T C 11: 98,889,993 (GRCm39) I1237V probably benign Het
Trub1 G T 19: 57,473,563 (GRCm39) V207L probably benign Het
Ttll13 T A 7: 79,909,217 (GRCm39) I634N probably benign Het
Ube2j1 T G 4: 33,045,145 (GRCm39) N208K probably benign Het
Wdr17 A G 8: 55,118,011 (GRCm39) S569P probably 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
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'- GGCAGATTACAGGCTGGTAG -3'
(R):5'- TTTCCTGGGAACGATAAAACCTG -3'

Sequencing Primer
(F):5'- GCTGGTAGCAGTATACAGGG -3'
(R):5'- CCTGGAGAACAAAGGAAAGTTTC -3'
Posted On 2020-06-30