Incidental Mutation 'R1679:Capn8'
ID 188333
Institutional Source Beutler Lab
Gene Symbol Capn8
Ensembl Gene ENSMUSG00000038599
Gene Name calpain 8
Synonyms nCL-2', nCL-2
MMRRC Submission 039715-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1679 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 182392572-182459917 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 182441032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 489 (S489P)
Ref Sequence ENSEMBL: ENSMUSP00000141275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048941] [ENSMUST00000192671]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000048941
AA Change: S489P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: S489P

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: ENSMUST00000192671
AA Change: S489P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: S489P

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
Meta Mutation Damage Score 0.5316 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (51/52)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Adam6a A G 12: 113,508,376 (GRCm39) M250V probably benign Het
Adgre5 C A 8: 84,456,034 (GRCm39) R254L probably benign Het
Adgrv1 A T 13: 81,707,671 (GRCm39) L525Q probably damaging Het
Ano9 T A 7: 140,688,210 (GRCm39) I205F probably benign Het
Bmp5 T C 9: 75,746,877 (GRCm39) V245A probably benign Het
Ccdc85a A G 11: 28,533,316 (GRCm39) L76P probably damaging Het
Cd164l2 A G 4: 132,948,810 (GRCm39) T49A probably benign Het
Cdc25c T C 18: 34,880,348 (GRCm39) T129A probably damaging Het
Cfap43 T C 19: 47,761,553 (GRCm39) D847G probably benign Het
Crim1 G A 17: 78,508,228 (GRCm39) A11T probably benign Het
Cul9 A T 17: 46,832,082 (GRCm39) L1449H possibly damaging Het
Cyp2a22 T A 7: 26,635,736 (GRCm39) K276* probably null Het
Cyp2c50 C A 19: 40,099,859 (GRCm39) T430K possibly damaging Het
Ddb2 C T 2: 91,064,595 (GRCm39) R105Q probably benign Het
Emilin1 T C 5: 31,077,543 (GRCm39) Y900H probably benign Het
Eml3 T C 19: 8,914,001 (GRCm39) F100L probably damaging Het
Eps8l2 G A 7: 140,940,970 (GRCm39) G542D probably damaging Het
Fbf1 A G 11: 116,041,843 (GRCm39) probably null Het
Gm21886 T C 18: 80,132,954 (GRCm39) Y68C probably damaging Het
H2-Q10 A G 17: 35,784,492 (GRCm39) probably benign Het
Hebp2 G T 10: 18,420,163 (GRCm39) T90K possibly damaging Het
Il1rl2 A G 1: 40,382,320 (GRCm39) T211A probably benign Het
Incenp T C 19: 9,872,778 (GRCm39) D16G unknown Het
Isg20l2 T A 3: 87,839,392 (GRCm39) M201K probably damaging Het
Kansl1 A T 11: 104,314,822 (GRCm39) S405R probably damaging Het
Kdsr T A 1: 106,680,956 (GRCm39) I81F probably benign Het
Leprotl1 T G 8: 34,607,986 (GRCm39) L7F probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mtmr2 T A 9: 13,700,373 (GRCm39) I60K probably damaging Het
Mto1 A G 9: 78,372,245 (GRCm39) T572A probably benign Het
Nipbl G A 15: 8,332,396 (GRCm39) T2287I probably benign Het
Nutm2 A G 13: 50,623,422 (GRCm39) T40A probably benign Het
Nxf1 T C 19: 8,746,438 (GRCm39) S550P probably benign Het
Or5p4 A T 7: 107,680,859 (GRCm39) N286I probably damaging Het
Phactr1 G A 13: 43,210,756 (GRCm39) V193I possibly damaging Het
Phactr1 A T 13: 43,248,257 (GRCm39) Y317F possibly damaging Het
Pih1d1 T C 7: 44,809,250 (GRCm39) probably null Het
Rictor T C 15: 6,797,571 (GRCm39) I309T possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ruvbl2 T C 7: 45,074,391 (GRCm39) D216G probably damaging Het
Slc20a2 T G 8: 23,028,846 (GRCm39) S106A possibly damaging Het
Srprb A G 9: 103,069,406 (GRCm39) probably benign Het
Stx11 A T 10: 12,817,580 (GRCm39) I48N probably damaging Het
Vmn1r29 A T 6: 58,285,003 (GRCm39) Y241F probably damaging Het
Wdfy1 A T 1: 79,685,192 (GRCm39) C347* probably null Het
Zfp683 T C 4: 133,785,956 (GRCm39) V361A possibly damaging Het
Other mutations in Capn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01880:Capn8 APN 1 182,425,141 (GRCm39) missense probably damaging 1.00
IGL02814:Capn8 APN 1 182,426,336 (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
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
Predicted Primers PCR Primer
(F):5'- ACCCCAAATCCGTTGAATGGTTGAG -3'
(R):5'- ATGAGTTCCTCCAGATCCTGCACC -3'

Sequencing Primer
(F):5'- GTGAACTAGCTCATGACTGAAC -3'
(R):5'- ACCTCCATCTGGGGCCTAAC -3'
Posted On 2014-05-09