Incidental Mutation 'R3804:Capn13'
ID 274528
Institutional Source Beutler Lab
Gene Symbol Capn13
Ensembl Gene ENSMUSG00000043705
Gene Name calpain 13
Synonyms LOC381122
MMRRC Submission 040879-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R3804 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 73613451-73706376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73646396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 339 (P339L)
Ref Sequence ENSEMBL: ENSMUSP00000092832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095208]
AlphaFold Q3UW68
Predicted Effect probably benign
Transcript: ENSMUST00000095208
AA Change: P339L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: P339L

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik C T 8: 79,974,922 (GRCm39) E54K probably benign Het
Adgra1 A G 7: 139,425,510 (GRCm39) T8A probably benign Het
Alms1 A G 6: 85,596,629 (GRCm39) Y954C probably damaging Het
AU021092 A C 16: 5,034,626 (GRCm39) F199V possibly damaging Het
Bahcc1 C T 11: 120,174,184 (GRCm39) P1648L probably benign Het
Cacna1s T A 1: 136,034,756 (GRCm39) C1319S possibly damaging Het
Ccdc39 A T 3: 33,874,044 (GRCm39) M596K probably damaging Het
Cfap418 A G 4: 10,898,014 (GRCm39) T199A probably benign Het
Cntn5 A G 9: 9,781,668 (GRCm39) probably benign Het
Cyth4 A G 15: 78,494,002 (GRCm39) K159E probably damaging Het
Dgkz C A 2: 91,769,975 (GRCm39) R563L probably benign Het
Dnah8 A G 17: 30,889,621 (GRCm39) E718G probably benign Het
Dop1a T C 9: 86,403,048 (GRCm39) L1416P probably damaging Het
Dstyk G A 1: 132,377,464 (GRCm39) A110T probably damaging Het
Eif1 A G 11: 100,211,650 (GRCm39) K95E probably damaging Het
Espnl A G 1: 91,249,943 (GRCm39) D30G probably benign Het
Gast T C 11: 100,227,636 (GRCm39) S73P probably damaging Het
Gmppb T C 9: 107,927,773 (GRCm39) Y176H probably damaging Het
Grap2 A G 15: 80,507,947 (GRCm39) T4A possibly damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Gstm3 G A 3: 107,871,551 (GRCm39) T210I probably benign Het
Gtf3c3 A G 1: 54,463,166 (GRCm39) probably null Het
Hmcn2 A G 2: 31,242,897 (GRCm39) probably null Het
Icam2 A G 11: 106,271,648 (GRCm39) L94P probably damaging Het
Iqcm C A 8: 76,396,021 (GRCm39) T188K possibly damaging Het
Jarid2 T A 13: 45,056,307 (GRCm39) N365K probably benign Het
Kank4 A G 4: 98,668,370 (GRCm39) S26P probably damaging Het
Lgr4 A G 2: 109,838,542 (GRCm39) K498E probably benign Het
Meltf A G 16: 31,703,816 (GRCm39) H181R probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nf1 A G 11: 79,450,347 (GRCm39) D511G probably null Het
Nhlrc3 A G 3: 53,366,052 (GRCm39) V147A possibly damaging Het
Nrap C T 19: 56,310,211 (GRCm39) D1595N probably damaging Het
Or1e16 T C 11: 73,286,776 (GRCm39) Q24R probably benign Het
Or5p4 A T 7: 107,680,378 (GRCm39) I126F probably damaging Het
Or6c212 T A 10: 129,558,918 (GRCm39) D165V possibly damaging Het
Or6n2 T A 1: 173,897,474 (GRCm39) N203K probably damaging Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Pgm2l1 T C 7: 99,901,474 (GRCm39) V121A probably benign Het
Phf19 A G 2: 34,789,670 (GRCm39) L350P probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Phkb G T 8: 86,648,858 (GRCm39) E225* probably null Het
Pif1 T A 9: 65,495,588 (GRCm39) V166E probably damaging Het
Plaa T C 4: 94,458,125 (GRCm39) D615G probably damaging Het
Prpf4b T C 13: 35,067,665 (GRCm39) probably benign Het
Rxra T C 2: 27,646,272 (GRCm39) C374R probably damaging Het
Septin3 T C 15: 82,170,630 (GRCm39) probably benign Het
Skint4 G T 4: 111,975,378 (GRCm39) V113L probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc22a15 C T 3: 101,804,590 (GRCm39) G145D probably damaging Het
Slc28a1 A T 7: 80,775,969 (GRCm39) I222F probably damaging Het
Slc43a2 T C 11: 75,454,424 (GRCm39) L323P probably benign Het
Sorbs3 A G 14: 70,436,800 (GRCm39) probably benign Het
Spink10 C T 18: 62,786,485 (GRCm39) probably benign Het
Suclg2 A T 6: 95,474,649 (GRCm39) I372N probably damaging Het
Sun1 C A 5: 139,211,117 (GRCm39) C164* probably null Het
Tax1bp1 T C 6: 52,719,770 (GRCm39) F453L probably benign Het
Tmem54 A G 4: 129,002,013 (GRCm39) N9S probably benign Het
Tmx4 A G 2: 134,462,497 (GRCm39) W145R probably damaging Het
Top1 A G 2: 160,544,688 (GRCm39) H268R probably damaging Het
Ttn A G 2: 76,641,075 (GRCm39) L13598P probably damaging Het
Vmn1r40 A G 6: 89,691,991 (GRCm39) I269M probably benign Het
Wdr7 G T 18: 63,853,907 (GRCm39) R80L probably benign Het
Zap70 A T 1: 36,810,223 (GRCm39) Q111L possibly damaging Het
Zfp808 T A 13: 62,319,897 (GRCm39) H375Q probably damaging Het
Zkscan2 A T 7: 123,094,365 (GRCm39) 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
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'- GCCATCATGCTTCAAGGGTAG -3'
(R):5'- TAAGTCACACATGGGGACTTCC -3'

Sequencing Primer
(F):5'- CATCATGCTTCAAGGGTAGTTGCC -3'
(R):5'- ACACATGGGGACTTCCTCTGATTG -3'
Posted On 2015-04-02