Incidental Mutation 'IGL02814:Capn8'
ID 360715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn8
Ensembl Gene ENSMUSG00000038599
Gene Name calpain 8
Synonyms nCL-2', nCL-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02814
Quality Score
Status
Chromosome 1
Chromosomal Location 182392572-182459917 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 182426336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 224 (L224M)
Ref Sequence ENSEMBL: ENSMUSP00000141275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048941] [ENSMUST00000168514] [ENSMUST00000192671]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000048941
AA Change: L224M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: L224M

DomainStartEndE-ValueType
CysPc 27 352 5.02e-183 SMART
calpain_III 355 512 5.34e-91 SMART
EFh 579 607 3.12e0 SMART
EFh 609 637 4.32e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168514
AA Change: L224M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129549
Gene: ENSMUSG00000038599
AA Change: L224M

DomainStartEndE-ValueType
CysPc 27 352 5.02e-183 SMART
Pfam:Calpain_III 355 381 6.3e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192671
AA Change: L224M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: L224M

DomainStartEndE-ValueType
CysPc 27 352 2.2e-185 SMART
calpain_III 355 512 1.4e-93 SMART
EFh 579 607 1.5e-2 SMART
EFh 609 637 2.1e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193260
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele or allele that produces a proteolytically inactive protein exhibit increased sensitivity to ethanol-induced gastric mucosa injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,045,293 (GRCm39) F347I possibly damaging Het
Adcy5 A G 16: 35,124,019 (GRCm39) T1233A probably benign Het
Blnk C T 19: 40,950,873 (GRCm39) D93N probably damaging Het
Cadps2 T C 6: 23,321,706 (GRCm39) E1083G probably damaging Het
Cdh4 A T 2: 179,422,267 (GRCm39) E130D probably benign Het
Cgn G A 3: 94,681,550 (GRCm39) T515M probably benign Het
Chrna10 C T 7: 101,761,469 (GRCm39) G374D probably benign Het
Chrnb1 T A 11: 69,686,506 (GRCm39) Y38F probably damaging Het
Cyld A G 8: 89,471,525 (GRCm39) D621G probably benign Het
Cyp4f37 T C 17: 32,853,645 (GRCm39) F443S probably benign Het
Dctn1 C A 6: 83,166,896 (GRCm39) A152E probably damaging Het
Eml4 T A 17: 83,748,791 (GRCm39) Y228* probably null Het
Fbln2 T A 6: 91,242,839 (GRCm39) C846* probably null Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gart T C 16: 91,420,345 (GRCm39) S833G possibly damaging Het
Gda T C 19: 21,405,839 (GRCm39) probably null Het
Gjb5 C T 4: 127,249,355 (GRCm39) R263Q probably benign Het
Gtf2i T C 5: 134,315,558 (GRCm39) K193E probably damaging Het
H4c14 C A 3: 96,170,603 (GRCm39) K6N probably benign Het
Ints1 C T 5: 139,758,146 (GRCm39) E244K possibly damaging Het
Kat14 G A 2: 144,244,383 (GRCm39) S412N probably benign Het
Kcnn3 A T 3: 89,428,482 (GRCm39) H236L possibly damaging Het
Kif15 T A 9: 122,832,705 (GRCm39) I1005K possibly damaging Het
Klrc1 T C 6: 129,655,855 (GRCm39) T7A possibly damaging Het
Lcp2 T C 11: 34,021,033 (GRCm39) S130P probably damaging Het
Ldha T A 7: 46,500,315 (GRCm39) Y133* probably null Het
Lrp2 A G 2: 69,337,080 (GRCm39) C1231R probably damaging Het
Lrrn1 T A 6: 107,544,313 (GRCm39) V37D probably damaging Het
Mep1a T A 17: 43,788,112 (GRCm39) H648L probably benign Het
Mmp25 C T 17: 23,858,736 (GRCm39) G272R probably damaging Het
Myh15 A G 16: 48,965,801 (GRCm39) probably benign Het
Myl3 G T 9: 110,597,059 (GRCm39) E140* probably null Het
Nlrp4f A G 13: 65,332,856 (GRCm39) S809P probably damaging Het
Nrde2 T C 12: 100,110,394 (GRCm39) I207M probably null Het
Or13a26 T C 7: 140,285,046 (GRCm39) L294P probably damaging Het
Or2y8 C T 11: 52,035,637 (GRCm39) C240Y probably damaging Het
Or5p54 T C 7: 107,553,977 (GRCm39) I43T probably benign Het
Paics T G 5: 77,110,320 (GRCm39) V245G probably damaging Het
Pank1 A G 19: 34,818,255 (GRCm39) F95L probably damaging Het
Pde4dip A C 3: 97,674,416 (GRCm39) C167G probably damaging Het
Picalm C A 7: 89,840,957 (GRCm39) T542K possibly damaging Het
Piezo1 A G 8: 123,224,954 (GRCm39) Y651H probably damaging Het
Pikfyve T A 1: 65,289,353 (GRCm39) C1208* probably null Het
Pkd1l1 T A 11: 8,852,582 (GRCm39) T634S probably benign Het
Rab32 T C 10: 10,422,171 (GRCm39) T183A probably benign Het
Rad18 T C 6: 112,621,583 (GRCm39) I206V possibly damaging Het
Rbm15b T C 9: 106,762,975 (GRCm39) I398V probably benign Het
Rbm28 T C 6: 29,159,725 (GRCm39) E101G probably benign Het
Rsf1 T C 7: 97,310,434 (GRCm39) L388P probably damaging Het
Scnn1g A G 7: 121,339,588 (GRCm39) Y129C probably damaging Het
Slc7a13 G A 4: 19,839,387 (GRCm39) C330Y probably benign Het
Spock1 A T 13: 57,735,486 (GRCm39) V101E probably damaging Het
Sympk T A 7: 18,787,198 (GRCm39) W1029R probably damaging Het
Syne2 T A 12: 75,992,150 (GRCm39) H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 (GRCm39) Y199N probably damaging Het
Trim10 T A 17: 37,188,228 (GRCm39) C481* probably null Het
Vmn2r102 A G 17: 19,898,170 (GRCm39) E395G probably damaging Het
Wfs1 A C 5: 37,125,013 (GRCm39) V626G possibly damaging Het
Zfp689 A G 7: 127,044,193 (GRCm39) S146P possibly damaging Het
Zfp786 T C 6: 47,796,775 (GRCm39) H721R probably damaging Het
Zfta C A 19: 7,397,787 (GRCm39) N111K possibly damaging Het
Other mutations in Capn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01880:Capn8 APN 1 182,425,141 (GRCm39) missense probably damaging 1.00
R0063:Capn8 UTSW 1 182,429,677 (GRCm39) missense probably damaging 1.00
R0063:Capn8 UTSW 1 182,429,677 (GRCm39) missense probably damaging 1.00
R0330:Capn8 UTSW 1 182,457,703 (GRCm39) missense probably benign 0.30
R1653:Capn8 UTSW 1 182,451,516 (GRCm39) missense probably benign 0.04
R1679:Capn8 UTSW 1 182,441,032 (GRCm39) missense probably damaging 1.00
R1783:Capn8 UTSW 1 182,426,387 (GRCm39) missense probably damaging 1.00
R1819:Capn8 UTSW 1 182,426,391 (GRCm39) missense probably damaging 1.00
R1831:Capn8 UTSW 1 182,438,666 (GRCm39) critical splice donor site probably null
R2045:Capn8 UTSW 1 182,440,951 (GRCm39) missense probably benign 0.00
R2298:Capn8 UTSW 1 182,440,985 (GRCm39) missense probably benign 0.29
R4331:Capn8 UTSW 1 182,432,019 (GRCm39) missense probably damaging 1.00
R4485:Capn8 UTSW 1 182,426,306 (GRCm39) missense possibly damaging 0.76
R4835:Capn8 UTSW 1 182,432,116 (GRCm39) missense probably damaging 0.98
R5055:Capn8 UTSW 1 182,399,526 (GRCm39) missense probably damaging 1.00
R5224:Capn8 UTSW 1 182,424,554 (GRCm39) missense probably damaging 1.00
R5327:Capn8 UTSW 1 182,456,169 (GRCm39) missense probably benign 0.03
R5497:Capn8 UTSW 1 182,447,745 (GRCm39) missense probably benign
R6307:Capn8 UTSW 1 182,435,264 (GRCm39) missense probably damaging 0.98
R6895:Capn8 UTSW 1 182,456,234 (GRCm39) missense possibly damaging 0.51
R7216:Capn8 UTSW 1 182,426,363 (GRCm39) missense possibly damaging 0.89
R7438:Capn8 UTSW 1 182,426,240 (GRCm39) missense probably damaging 1.00
R8258:Capn8 UTSW 1 182,392,698 (GRCm39) missense probably benign 0.00
R8259:Capn8 UTSW 1 182,392,698 (GRCm39) missense probably benign 0.00
R8334:Capn8 UTSW 1 182,438,670 (GRCm39) splice site probably null
R8837:Capn8 UTSW 1 182,456,199 (GRCm39) missense possibly damaging 0.88
R9746:Capn8 UTSW 1 182,438,670 (GRCm39) splice site probably null
Z1177:Capn8 UTSW 1 182,440,911 (GRCm39) missense probably benign
Posted On 2015-12-18