Incidental Mutation 'R1653:Capn8'
ID 188833
Institutional Source Beutler Lab
Gene Symbol Capn8
Ensembl Gene ENSMUSG00000038599
Gene Name calpain 8
Synonyms nCL-2', nCL-2
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 182392572-182459917 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 182451516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 578 (N578D)
Ref Sequence ENSEMBL: ENSMUSP00000141275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048941] [ENSMUST00000192671]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048941
AA Change: N578D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: N578D

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 benign
Transcript: ENSMUST00000192671
AA Change: N578D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: N578D

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S probably 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
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
Predicted Primers PCR Primer
(F):5'- GCCCACAGCTTGAAGCACAATG -3'
(R):5'- TCCCAGGTGTGGCAAAGACAAC -3'

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