Incidental Mutation 'R5607:Casp1'
ID 439347
Institutional Source Beutler Lab
Gene Symbol Casp1
Ensembl Gene ENSMUSG00000025888
Gene Name caspase 1
Synonyms ICE, Il1bc, Caspase-1, interleukin 1 beta-converting enzyme
MMRRC Submission 043271-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5607 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 5298517-5307265 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5303143 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000027015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027015]
AlphaFold P29452
Predicted Effect probably damaging
Transcript: ENSMUST00000027015
AA Change: V199A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: V199A

CARD 4 89 4.91e-19 SMART
CASc 151 400 1.82e-136 SMART
Meta Mutation Damage Score 0.8377 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.8%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous targeted mutants fail to produce mature IL1A and IL1B and are resistant to LPS-induced endotoxin shock and to FAS antibody-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 83,937,257 (GRCm38) G1118W probably damaging Het
Ajap1 T A 4: 153,432,204 (GRCm38) T227S possibly damaging Het
Ankmy1 A G 1: 92,877,018 (GRCm38) F851S probably damaging Het
Blvrb C T 7: 27,459,469 (GRCm38) P98L probably benign Het
Bmpr1b C A 3: 141,857,522 (GRCm38) M220I possibly damaging Het
Cacna1e T A 1: 154,471,340 (GRCm38) N1027I probably benign Het
Cacng4 A T 11: 107,734,784 (GRCm38) V327E probably damaging Het
Cdh13 A T 8: 118,757,474 (GRCm38) D158V probably benign Het
Cenpe C A 3: 135,235,076 (GRCm38) S662* probably null Het
Ctnna1 A G 18: 35,249,742 (GRCm38) D647G probably benign Het
Dennd5a C A 7: 109,919,423 (GRCm38) E480* probably null Het
Exoc6 T A 19: 37,578,529 (GRCm38) V258D probably benign Het
Fchsd1 C T 18: 37,959,873 (GRCm38) probably benign Het
Fmn2 G A 1: 174,609,811 (GRCm38) C1116Y probably damaging Het
H2-Aa T C 17: 34,283,842 (GRCm38) T117A possibly damaging Het
Ktn1 TTGTTGTCTTTGTGTT TTGTT 14: 47,734,097 (GRCm38) probably benign Het
Lig1 C A 7: 13,306,008 (GRCm38) T715N probably damaging Het
Lrrc31 C A 3: 30,689,845 (GRCm38) probably null Het
Mcm6 T C 1: 128,355,589 (GRCm38) T60A probably damaging Het
Mex3c T A 18: 73,589,943 (GRCm38) M369K possibly damaging Het
Mmp14 T C 14: 54,439,412 (GRCm38) Y428H probably damaging Het
Msh6 A G 17: 87,986,901 (GRCm38) D1028G probably damaging Het
Myo9a T C 9: 59,863,944 (GRCm38) V933A probably damaging Het
Nepn A T 10: 52,401,137 (GRCm38) D323V probably benign Het
Nrf1 C T 6: 30,126,246 (GRCm38) A150V probably damaging Het
Nxpe5 A G 5: 138,239,771 (GRCm38) T199A probably benign Het
Obscn T G 11: 59,122,848 (GRCm38) K1150Q probably benign Het
Olfr1354 A G 10: 78,917,099 (GRCm38) I86M possibly damaging Het
Olfr536 A C 7: 140,504,405 (GRCm38) V18G probably benign Het
Olfr591 T C 7: 103,172,849 (GRCm38) T263A probably damaging Het
Olfr617 G A 7: 103,584,299 (GRCm38) W92* probably null Het
Olfr862 T A 9: 19,883,976 (GRCm38) M110L probably benign Het
Otop1 G A 5: 38,294,504 (GRCm38) G184S possibly damaging Het
Pkp2 G T 16: 16,260,375 (GRCm38) D494Y probably damaging Het
Pop5 G A 5: 115,240,201 (GRCm38) R68Q probably damaging Het
Ppp1r13b T C 12: 111,833,789 (GRCm38) D518G probably benign Het
Preb G T 5: 30,959,963 (GRCm38) probably benign Het
Qrfpr A G 3: 36,180,965 (GRCm38) V292A possibly damaging Het
Rag1 G A 2: 101,643,792 (GRCm38) T335I probably damaging Het
Rbbp6 T A 7: 122,997,086 (GRCm38) V617E probably damaging Het
Sf3a3 A T 4: 124,714,953 (GRCm38) D20V probably damaging Het
Slco1b2 A G 6: 141,685,586 (GRCm38) N649D probably benign Het
Smarcal1 A G 1: 72,586,213 (GRCm38) D173G probably benign Het
Smg7 A G 1: 152,843,234 (GRCm38) L914P probably damaging Het
Tbc1d32 A T 10: 56,129,150 (GRCm38) S796T possibly damaging Het
Tex14 A G 11: 87,522,578 (GRCm38) T1052A probably benign Het
Tspan1 A G 4: 116,164,080 (GRCm38) V109A possibly damaging Het
Ttbk2 A G 2: 120,806,824 (GRCm38) V51A possibly damaging Het
Tubgcp6 A G 15: 89,111,150 (GRCm38) V419A probably benign Het
Ubr2 G T 17: 46,934,200 (GRCm38) C1633* probably null Het
Uggt2 C T 14: 119,089,199 (GRCm38) G200D possibly damaging Het
Vmn2r25 T C 6: 123,828,359 (GRCm38) E513G possibly damaging Het
Zscan22 G A 7: 12,906,992 (GRCm38) G388S probably damaging Het
Other mutations in Casp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Casp1 APN 9 5,299,872 (GRCm38) splice site probably benign
IGL00667:Casp1 APN 9 5,303,756 (GRCm38) missense probably benign 0.40
IGL01998:Casp1 APN 9 5,303,043 (GRCm38) missense probably damaging 1.00
IGL02248:Casp1 APN 9 5,299,452 (GRCm38) missense probably benign 0.01
IGL02469:Casp1 APN 9 5,303,105 (GRCm38) missense probably benign 0.19
P0027:Casp1 UTSW 9 5,299,851 (GRCm38) missense probably benign 0.00
PIT4305001:Casp1 UTSW 9 5,306,135 (GRCm38) missense probably benign 0.03
R0724:Casp1 UTSW 9 5,303,077 (GRCm38) missense probably benign
R1169:Casp1 UTSW 9 5,299,454 (GRCm38) missense possibly damaging 0.93
R1876:Casp1 UTSW 9 5,303,663 (GRCm38) missense probably benign 0.01
R2316:Casp1 UTSW 9 5,306,213 (GRCm38) missense possibly damaging 0.92
R2877:Casp1 UTSW 9 5,303,110 (GRCm38) missense probably damaging 1.00
R2885:Casp1 UTSW 9 5,299,851 (GRCm38) missense probably benign 0.00
R4043:Casp1 UTSW 9 5,302,444 (GRCm38) missense probably benign
R4367:Casp1 UTSW 9 5,299,333 (GRCm38) missense probably benign 0.41
R4656:Casp1 UTSW 9 5,304,324 (GRCm38) missense probably damaging 1.00
R4705:Casp1 UTSW 9 5,306,204 (GRCm38) missense probably damaging 1.00
R4790:Casp1 UTSW 9 5,303,020 (GRCm38) missense probably benign 0.01
R4858:Casp1 UTSW 9 5,306,742 (GRCm38) missense probably damaging 1.00
R5784:Casp1 UTSW 9 5,299,337 (GRCm38) missense probably damaging 0.98
R6578:Casp1 UTSW 9 5,304,280 (GRCm38) missense probably benign 0.04
R7111:Casp1 UTSW 9 5,299,816 (GRCm38) missense probably benign 0.01
R7215:Casp1 UTSW 9 5,298,523 (GRCm38) splice site probably null
R7590:Casp1 UTSW 9 5,306,710 (GRCm38) missense probably damaging 1.00
R8002:Casp1 UTSW 9 5,303,164 (GRCm38) missense possibly damaging 0.94
R8510:Casp1 UTSW 9 5,303,026 (GRCm38) missense probably damaging 1.00
R8902:Casp1 UTSW 9 5,299,333 (GRCm38) missense probably benign 0.41
R9234:Casp1 UTSW 9 5,303,128 (GRCm38) missense probably benign 0.04
R9471:Casp1 UTSW 9 5,304,187 (GRCm38) missense probably benign 0.13
R9747:Casp1 UTSW 9 5,299,322 (GRCm38) missense probably damaging 1.00
T0722:Casp1 UTSW 9 5,299,851 (GRCm38) missense probably benign 0.00
X0003:Casp1 UTSW 9 5,299,851 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-26