Incidental Mutation 'R2877:Casp1'
ID 260616
Institutional Source Beutler Lab
Gene Symbol Casp1
Ensembl Gene ENSMUSG00000025888
Gene Name caspase 1
Synonyms Caspase-1, Il1bc, interleukin 1 beta-converting enzyme, ICE
MMRRC Submission 040465-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2877 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 5298517-5307281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5303110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 188 (M188T)
Ref Sequence ENSEMBL: ENSMUSP00000027015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027015]
AlphaFold P29452
Predicted Effect probably damaging
Transcript: ENSMUST00000027015
AA Change: M188T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: M188T

CARD 4 89 4.91e-19 SMART
CASc 151 400 1.82e-136 SMART
Meta Mutation Damage Score 0.6167 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (66/69)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A C 5: 109,886,811 (GRCm39) probably benign Het
Abca13 C T 11: 9,241,889 (GRCm39) L1251F possibly damaging Het
Accsl A T 2: 93,689,755 (GRCm39) M384K probably damaging Het
Adss1 A C 12: 112,600,623 (GRCm39) K197N probably damaging Het
Alg11 A G 8: 22,555,374 (GRCm39) N170D possibly damaging Het
Ambn T C 5: 88,608,559 (GRCm39) probably benign Het
Anapc7 T C 5: 122,566,219 (GRCm39) Y43H probably benign Het
Anxa10 T A 8: 62,513,373 (GRCm39) I255F probably damaging Het
Atg2b A T 12: 105,630,268 (GRCm39) Y374* probably null Het
Axl T A 7: 25,465,949 (GRCm39) M563L probably damaging Het
Carmil2 A G 8: 106,422,055 (GRCm39) E1108G probably damaging Het
Chd3 A T 11: 69,251,998 (GRCm39) C87* probably null Het
Col6a3 G A 1: 90,703,321 (GRCm39) T2475I unknown Het
Creb3l4 A T 3: 90,149,615 (GRCm39) S83R probably damaging Het
Cyp2a4 G A 7: 26,011,612 (GRCm39) E278K possibly damaging Het
Dync1li2 A C 8: 105,156,047 (GRCm39) Y265D probably damaging Het
Eif3f G A 7: 108,534,019 (GRCm39) probably null Het
Eipr1 C T 12: 28,810,091 (GRCm39) T22I possibly damaging Het
Fbxo48 A G 11: 16,903,382 (GRCm39) K3E possibly damaging Het
Fbxw13 A G 9: 109,010,534 (GRCm39) F368S probably damaging Het
Fbxw19 A T 9: 109,315,038 (GRCm39) W175R probably damaging Het
Fibcd1 G A 2: 31,728,678 (GRCm39) P60S probably benign Het
Foxa3 A T 7: 18,748,805 (GRCm39) M107K probably benign Het
Foxj2 G A 6: 122,819,791 (GRCm39) D560N probably damaging Het
Gfm2 A G 13: 97,289,757 (GRCm39) R181G possibly damaging Het
Gpr25 C T 1: 136,188,553 (GRCm39) G20D possibly damaging Het
Grin1 A G 2: 25,187,641 (GRCm39) V594A probably damaging Het
Itpripl1 A G 2: 126,983,534 (GRCm39) V196A probably benign Het
Kcns1 A G 2: 164,006,682 (GRCm39) I427T probably damaging Het
Kiz T C 2: 146,731,476 (GRCm39) V322A possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Muc19 T A 15: 91,777,200 (GRCm39) noncoding transcript Het
Naa16 A G 14: 79,580,738 (GRCm39) M592T probably benign Het
Naa80 A T 9: 107,460,367 (GRCm39) E87D possibly damaging Het
Ncapd3 T A 9: 26,955,783 (GRCm39) probably null Het
Nebl C A 2: 17,439,740 (GRCm39) D178Y probably damaging Het
Nedd1 T A 10: 92,549,988 (GRCm39) N99I possibly damaging Het
Nuak1 T C 10: 84,211,209 (GRCm39) D293G possibly damaging Het
Or5b123 A T 19: 13,596,996 (GRCm39) I157F probably damaging Het
Or5m9b T C 2: 85,905,675 (GRCm39) M197T possibly damaging Het
Palb2 A G 7: 121,713,652 (GRCm39) V877A probably damaging Het
Rassf6 C T 5: 90,754,664 (GRCm39) V205I probably damaging Het
Rbak A G 5: 143,159,860 (GRCm39) Y398H probably damaging Het
Rcbtb1 A G 14: 59,448,041 (GRCm39) probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Smpdl3a C A 10: 57,685,181 (GRCm39) T317K probably damaging Het
Speer4e1 C T 5: 14,987,130 (GRCm39) V92M probably damaging Het
Syne2 A G 12: 76,047,605 (GRCm39) I4009V probably benign Het
Tarbp1 G A 8: 127,154,571 (GRCm39) L1474F probably damaging Het
Tchh A G 3: 93,351,535 (GRCm39) E325G unknown Het
Trpc4 T C 3: 54,198,761 (GRCm39) S562P probably damaging Het
Ttn T C 2: 76,567,409 (GRCm39) D27828G probably damaging Het
Ulk4 T C 9: 121,089,105 (GRCm39) D258G probably benign Het
Vmn1r215 A G 13: 23,260,731 (GRCm39) H257R probably benign Het
Vmn2r56 A C 7: 12,444,954 (GRCm39) M433R probably benign Het
Vmn2r76 C A 7: 85,875,201 (GRCm39) C592F probably benign Het
Zcchc8 C T 5: 123,838,766 (GRCm39) V591I probably benign Het
Znhit6 G C 3: 145,282,409 (GRCm39) G96A probably benign Het
Other mutations in Casp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Casp1 APN 9 5,299,872 (GRCm39) splice site probably benign
IGL00667:Casp1 APN 9 5,303,756 (GRCm39) missense probably benign 0.40
IGL01998:Casp1 APN 9 5,303,043 (GRCm39) missense probably damaging 1.00
IGL02248:Casp1 APN 9 5,299,452 (GRCm39) missense probably benign 0.01
IGL02469:Casp1 APN 9 5,303,105 (GRCm39) missense probably benign 0.19
P0027:Casp1 UTSW 9 5,299,851 (GRCm39) missense probably benign 0.00
PIT4305001:Casp1 UTSW 9 5,306,135 (GRCm39) missense probably benign 0.03
R0724:Casp1 UTSW 9 5,303,077 (GRCm39) missense probably benign
R1169:Casp1 UTSW 9 5,299,454 (GRCm39) missense possibly damaging 0.93
R1876:Casp1 UTSW 9 5,303,663 (GRCm39) missense probably benign 0.01
R2316:Casp1 UTSW 9 5,306,213 (GRCm39) missense possibly damaging 0.92
R2885:Casp1 UTSW 9 5,299,851 (GRCm39) missense probably benign 0.00
R4043:Casp1 UTSW 9 5,302,444 (GRCm39) missense probably benign
R4367:Casp1 UTSW 9 5,299,333 (GRCm39) missense probably benign 0.41
R4656:Casp1 UTSW 9 5,304,324 (GRCm39) missense probably damaging 1.00
R4705:Casp1 UTSW 9 5,306,204 (GRCm39) missense probably damaging 1.00
R4790:Casp1 UTSW 9 5,303,020 (GRCm39) missense probably benign 0.01
R4858:Casp1 UTSW 9 5,306,742 (GRCm39) missense probably damaging 1.00
R5607:Casp1 UTSW 9 5,303,143 (GRCm39) missense probably damaging 1.00
R5784:Casp1 UTSW 9 5,299,337 (GRCm39) missense probably damaging 0.98
R6578:Casp1 UTSW 9 5,304,280 (GRCm39) missense probably benign 0.04
R7111:Casp1 UTSW 9 5,299,816 (GRCm39) missense probably benign 0.01
R7215:Casp1 UTSW 9 5,298,523 (GRCm39) splice site probably null
R7590:Casp1 UTSW 9 5,306,710 (GRCm39) missense probably damaging 1.00
R8002:Casp1 UTSW 9 5,303,164 (GRCm39) missense possibly damaging 0.94
R8510:Casp1 UTSW 9 5,303,026 (GRCm39) missense probably damaging 1.00
R8902:Casp1 UTSW 9 5,299,333 (GRCm39) missense probably benign 0.41
R9234:Casp1 UTSW 9 5,303,128 (GRCm39) missense probably benign 0.04
R9471:Casp1 UTSW 9 5,304,187 (GRCm39) missense probably benign 0.13
R9747:Casp1 UTSW 9 5,299,322 (GRCm39) missense probably damaging 1.00
T0722:Casp1 UTSW 9 5,299,851 (GRCm39) missense probably benign 0.00
X0003:Casp1 UTSW 9 5,299,851 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-01-23