Incidental Mutation 'IGL01099:Capn13'
ID53062
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn13
Ensembl Gene ENSMUSG00000043705
Gene Namecalpain 13
SynonymsLOC381122
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01099
Quality Score
Status
Chromosome17
Chromosomal Location73306464-73399296 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73351509 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 188 (D188G)
Ref Sequence ENSEMBL: ENSMUSP00000092832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095208]
Predicted Effect probably damaging
Transcript: ENSMUST00000095208
AA Change: D188G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: D188G

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,109,360 H143L probably benign Het
Abca8a G A 11: 110,074,205 probably benign Het
Adam28 A G 14: 68,637,329 probably null Het
Adcy10 A G 1: 165,539,842 I560M probably benign Het
Alpl G A 4: 137,743,313 probably benign Het
Ank1 G A 8: 23,108,249 G753D probably damaging Het
Arhgef28 A T 13: 97,953,972 probably benign Het
Bmp7 A T 2: 172,875,262 C329S probably damaging Het
Car10 G A 11: 93,578,690 E164K possibly damaging Het
Cfhr1 T A 1: 139,547,759 probably benign Het
Col11a1 C T 3: 114,112,041 R562* probably null Het
Colec12 C T 18: 9,848,826 R335C probably damaging Het
Cyb561d2 C T 9: 107,540,289 probably null Het
D430042O09Rik T A 7: 125,865,320 H1286Q probably damaging Het
Epb41l3 A G 17: 69,210,193 D72G possibly damaging Het
Etl4 T C 2: 20,807,111 L1335P probably benign Het
F5 T G 1: 164,194,334 N1459K probably damaging Het
Fam161a T C 11: 23,015,894 probably benign Het
Flnc G A 6: 29,433,618 V54M probably damaging Het
Fndc3b T C 3: 27,463,817 I607V probably benign Het
Fscb A G 12: 64,472,101 S864P unknown Het
Glod4 T A 11: 76,239,550 K36* probably null Het
Gm6619 G A 6: 131,490,430 R86Q possibly damaging Het
Gm7052 T C 17: 22,039,725 probably benign Het
Gyg A T 3: 20,151,047 M119K probably benign Het
Ifit2 A T 19: 34,573,302 I81F probably damaging Het
Insr T C 8: 3,258,682 Y118C probably damaging Het
Kcnh3 T C 15: 99,239,736 S771P probably benign Het
Kndc1 C A 7: 139,920,784 H688Q probably damaging Het
Mybpc2 A G 7: 44,516,167 C330R probably damaging Het
Naa50 A T 16: 44,156,469 N23I probably damaging Het
Olfr544 T A 7: 102,484,478 D214V probably damaging Het
Olfr76 A G 19: 12,119,876 S279P probably damaging Het
Olfr894 T C 9: 38,219,743 S307P probably benign Het
Olfr912 T C 9: 38,582,077 S267P probably benign Het
Pfkp A T 13: 6,603,390 probably benign Het
Phlda2 G A 7: 143,502,139 probably null Het
Plxnd1 C A 6: 115,969,945 V823L probably benign Het
Ppil2 T A 16: 17,091,212 M368L probably damaging Het
Prpf40a T A 2: 53,141,835 H794L probably benign Het
Ripor2 A T 13: 24,701,207 H436L probably benign Het
Rnf138 T A 18: 21,020,913 C159S possibly damaging Het
Scn7a A T 2: 66,684,238 V1064D probably damaging Het
Slc12a2 T A 18: 57,906,020 C557* probably null Het
Slc1a6 T C 10: 78,788,997 S79P possibly damaging Het
Snapin G A 3: 90,490,602 probably benign Het
Tdp1 A T 12: 99,915,445 probably benign Het
Tigar G T 6: 127,088,145 A180E probably benign Het
Trav6-2 A T 14: 52,667,665 T48S probably benign Het
Ttn A G 2: 76,728,432 Y29702H probably damaging Het
Ush1c A G 7: 46,205,262 S689P probably damaging Het
Vmn1r40 A T 6: 89,714,596 I132F probably damaging Het
Vmn1r85 T A 7: 13,084,534 K228* probably null Het
Wdr33 C A 18: 31,906,789 probably benign Het
Ybx2 A T 11: 69,940,730 Q136L probably damaging Het
Other mutations in Capn13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Capn13 APN 17 73339425 missense possibly damaging 0.82
IGL01613:Capn13 APN 17 73331058 missense probably benign 0.07
IGL02215:Capn13 APN 17 73330998 missense probably damaging 1.00
IGL02403:Capn13 APN 17 73351426 missense possibly damaging 0.82
IGL02877:Capn13 APN 17 73322055 missense probably damaging 0.97
IGL03113:Capn13 APN 17 73331113 missense probably benign 0.00
IGL03246:Capn13 APN 17 73382860 missense probably benign
IGL03369:Capn13 APN 17 73341154 splice site probably benign
R0116:Capn13 UTSW 17 73351524 missense probably damaging 1.00
R0729:Capn13 UTSW 17 73322069 missense probably damaging 1.00
R0745:Capn13 UTSW 17 73351508 missense probably benign 0.39
R0746:Capn13 UTSW 17 73351508 missense probably benign 0.39
R0778:Capn13 UTSW 17 73351508 missense probably benign 0.39
R1252:Capn13 UTSW 17 73367227 missense possibly damaging 0.80
R1594:Capn13 UTSW 17 73351479 missense probably benign 0.15
R1641:Capn13 UTSW 17 73382894 missense possibly damaging 0.91
R1895:Capn13 UTSW 17 73350525 missense possibly damaging 0.50
R1902:Capn13 UTSW 17 73326361 missense probably damaging 1.00
R1946:Capn13 UTSW 17 73350525 missense possibly damaging 0.50
R2184:Capn13 UTSW 17 73365948 missense probably damaging 1.00
R2427:Capn13 UTSW 17 73326317 splice site probably benign
R2963:Capn13 UTSW 17 73315263 critical splice donor site probably null
R3755:Capn13 UTSW 17 73331119 nonsense probably null
R3759:Capn13 UTSW 17 73322077 missense probably benign 0.01
R3795:Capn13 UTSW 17 73337392 missense probably benign 0.14
R3801:Capn13 UTSW 17 73339401 missense probably benign 0.00
R3802:Capn13 UTSW 17 73339401 missense probably benign 0.00
R3803:Capn13 UTSW 17 73339401 missense probably benign 0.00
R3804:Capn13 UTSW 17 73339401 missense probably benign 0.00
R4084:Capn13 UTSW 17 73337449 missense probably benign 0.00
R4194:Capn13 UTSW 17 73339484 missense possibly damaging 0.48
R4326:Capn13 UTSW 17 73331108 missense probably benign
R4788:Capn13 UTSW 17 73337432 nonsense probably null
R4852:Capn13 UTSW 17 73351506 frame shift probably null
R4853:Capn13 UTSW 17 73351506 frame shift probably null
R4855:Capn13 UTSW 17 73351506 frame shift probably null
R5063:Capn13 UTSW 17 73322079 nonsense probably null
R5112:Capn13 UTSW 17 73351506 frame shift probably null
R5438:Capn13 UTSW 17 73326484 missense probably benign
R5955:Capn13 UTSW 17 73331002 missense possibly damaging 0.92
R6408:Capn13 UTSW 17 73365959 nonsense probably null
R6512:Capn13 UTSW 17 73382990 missense probably benign 0.44
R7425:Capn13 UTSW 17 73318058 missense probably benign 0.13
R7605:Capn13 UTSW 17 73345137 critical splice donor site probably null
R7678:Capn13 UTSW 17 73315305 missense probably damaging 1.00
R7776:Capn13 UTSW 17 73322054 missense probably benign 0.07
R7791:Capn13 UTSW 17 73382888 missense possibly damaging 0.88
R8087:Capn13 UTSW 17 73316284 missense probably damaging 1.00
R8090:Capn13 UTSW 17 73382854 missense probably benign 0.07
R8122:Capn13 UTSW 17 73367210 missense probably damaging 1.00
Z1176:Capn13 UTSW 17 73341110 missense probably benign 0.00
Posted On2013-06-21