Incidental Mutation 'R9509:Capn13'
ID 718049
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 # R9509 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 73613451-73706376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73644446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 361 (H361R)
Ref Sequence ENSEMBL: ENSMUSP00000092832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095208]
AlphaFold Q3UW68
Predicted Effect probably benign
Transcript: ENSMUST00000095208
AA Change: H361R

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: H361R

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik TTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCC 3: 137,771,595 (GRCm39) probably benign Het
Acan C T 7: 78,740,768 (GRCm39) P378L probably damaging Het
Akap6 A G 12: 53,189,021 (GRCm39) D2145G probably damaging Het
Akap9 A T 5: 4,096,349 (GRCm39) D2408V probably benign Het
Apol10a C A 15: 77,372,968 (GRCm39) Y201* probably null Het
Arhgef4 T C 1: 34,762,772 (GRCm39) I676T unknown Het
Ccdc88a G A 11: 29,414,143 (GRCm39) V894I probably benign Het
Chd4 T A 6: 125,099,485 (GRCm39) L1655Q possibly damaging Het
Chi3l1 G A 1: 134,116,413 (GRCm39) E307K probably damaging Het
Dhfr T A 13: 92,504,739 (GRCm39) I139N probably damaging Het
Dock8 A G 19: 25,072,985 (GRCm39) S422G probably benign Het
Dspp C A 5: 104,325,657 (GRCm39) D673E unknown Het
Dst G T 1: 33,947,465 (GRCm39) W38L possibly damaging Het
Dynlt1b A T 17: 6,702,415 (GRCm39) E26D probably benign Het
Dysf A T 6: 84,187,779 (GRCm39) Y2059F probably damaging Het
Efcab5 G A 11: 76,994,977 (GRCm39) S1198F possibly damaging Het
Erp44 T C 4: 48,208,750 (GRCm39) I237V probably benign Het
Exosc2 G A 2: 31,564,755 (GRCm39) V107I probably benign Het
Fat2 A G 11: 55,200,713 (GRCm39) V787A possibly damaging Het
Fbn2 C G 18: 58,247,550 (GRCm39) G448A probably benign Het
Fbxw21 A G 9: 108,977,217 (GRCm39) V164A possibly damaging Het
Gabpa G A 16: 84,649,395 (GRCm39) V201I possibly damaging Het
Gm12253 G A 11: 58,330,771 (GRCm39) V177M probably benign Het
Il2rb C A 15: 78,374,416 (GRCm39) W84L probably damaging Het
Kank4 T A 4: 98,663,104 (GRCm39) T695S possibly damaging Het
Klhl29 T C 12: 5,190,629 (GRCm39) Q122R probably damaging Het
L3mbtl1 A G 2: 162,809,303 (GRCm39) E670G probably damaging Het
Lifr A G 15: 7,188,955 (GRCm39) Y112C probably damaging Het
Lins1 C T 7: 66,358,119 (GRCm39) Q85* probably null Het
Lpcat1 T A 13: 73,642,951 (GRCm39) V175E probably damaging Het
Mdm1 T C 10: 117,982,730 (GRCm39) S122P probably damaging Het
Mtfmt C T 9: 65,343,147 (GRCm39) R18C probably benign Het
Mylk4 T C 13: 32,904,543 (GRCm39) N197S probably benign Het
Neurl4 T A 11: 69,792,971 (GRCm39) L83* probably null Het
Nlrc3 T C 16: 3,782,680 (GRCm39) D259G probably damaging Het
Nsf A T 11: 103,754,074 (GRCm39) D487E probably benign Het
Or2n1e A G 17: 38,586,281 (GRCm39) I206M probably benign Het
Or2y1 A G 11: 49,385,476 (GRCm39) I39V probably benign Het
Or5p50 T A 7: 107,422,440 (GRCm39) T79S probably benign Het
Palb2 T A 7: 121,727,399 (GRCm39) K157M probably damaging Het
Pbrm1 T C 14: 30,806,914 (GRCm39) S1114P probably damaging Het
Pdia6 T A 12: 17,330,989 (GRCm39) M364K probably damaging Het
Pf4 G T 5: 90,921,048 (GRCm39) G83W probably damaging Het
Pibf1 T C 14: 99,338,721 (GRCm39) M79T probably benign Het
Pip4p2 T A 4: 14,892,485 (GRCm39) C116* probably null Het
Polr3b T G 10: 84,467,650 (GRCm39) Y77D probably damaging Het
Pomt2 T A 12: 87,184,802 (GRCm39) H208L possibly damaging Het
Pprc1 A T 19: 46,051,838 (GRCm39) K456M unknown Het
Rasgef1a A T 6: 118,061,391 (GRCm39) K119* probably null Het
Rbbp6 T A 7: 122,597,791 (GRCm39) Y701N unknown Het
Relch A G 1: 105,614,704 (GRCm39) E216G probably damaging Het
Reln A T 5: 22,549,198 (GRCm39) V70E possibly damaging Het
Rgs17 T C 10: 5,812,576 (GRCm39) N41S probably benign Het
Rhbdf1 A T 11: 32,165,055 (GRCm39) I106N possibly damaging Het
Robo1 T A 16: 72,759,167 (GRCm39) N393K probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Scart2 T A 7: 139,879,644 (GRCm39) Y1093* probably null Het
Scnn1a A T 6: 125,319,604 (GRCm39) D495V probably damaging Het
Serpinf2 G A 11: 75,328,895 (GRCm39) P45L probably benign Het
Setdb1 A C 3: 95,261,900 (GRCm39) I122S possibly damaging Het
Slc4a9 A T 18: 36,668,443 (GRCm39) M701L probably damaging Het
Spata31h1 A T 10: 82,132,229 (GRCm39) N260K probably benign Het
Supv3l1 T C 10: 62,265,411 (GRCm39) T710A probably benign Het
Syne1 A T 10: 5,298,927 (GRCm39) probably null Het
Tenm3 A T 8: 48,766,292 (GRCm39) Y743* probably null Het
Tgm2 A T 2: 157,969,210 (GRCm39) Y388* probably null Het
Tor3a A G 1: 156,483,499 (GRCm39) S308P possibly damaging Het
Trim12a T C 7: 103,953,551 (GRCm39) K187E probably benign Het
Trpc1 C T 9: 95,625,249 (GRCm39) probably null Het
Uaca C T 9: 60,779,498 (GRCm39) T1295M possibly damaging Het
Ush2a T A 1: 188,648,440 (GRCm39) Y4682N probably damaging Het
Vldlr A G 19: 27,221,687 (GRCm39) N684S probably benign Het
Vmn2r72 T A 7: 85,404,075 (GRCm39) I39L probably benign Het
Vps13b A T 15: 35,841,457 (GRCm39) M2496L possibly damaging Het
Zbtb5 C T 4: 44,994,332 (GRCm39) V351M probably damaging Het
Zeb2 T A 2: 44,887,876 (GRCm39) T394S possibly damaging Het
Zfp352 A G 4: 90,112,943 (GRCm39) E361G probably damaging Het
Zfp54 C A 17: 21,654,629 (GRCm39) Y374* probably null Het
Zfp869 C A 8: 70,159,596 (GRCm39) G326W probably damaging Het
Zfyve28 C T 5: 34,354,892 (GRCm39) A806T probably benign 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
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
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'- TTCCAGTTTGGCCAGTGTC -3'
(R):5'- TTTAAGAGGAAGAGACTGAGGCTTC -3'

Sequencing Primer
(F):5'- AGTGTCTCTACCTAGCCCAAAGTG -3'
(R):5'- ACTGAGGCTTCAAATGTAAAGAAC -3'
Posted On 2022-07-18