Incidental Mutation 'R2316:Casp1'
ID 245495
Institutional Source Beutler Lab
Gene Symbol Casp1
Ensembl Gene ENSMUSG00000025888
Gene Name caspase 1
Synonyms Caspase-1, Il1bc, interleukin 1 beta-converting enzyme, ICE
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2316 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 5298517-5307281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5306213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 366 (D366G)
Ref Sequence ENSEMBL: ENSMUSP00000027015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027012] [ENSMUST00000027015] [ENSMUST00000160064] [ENSMUST00000162846]
AlphaFold P29452
Predicted Effect probably benign
Transcript: ENSMUST00000027012
SMART Domains Protein: ENSMUSP00000027012
Gene: ENSMUSG00000033538

DomainStartEndE-ValueType
CARD 1 92 7.63e-7 SMART
CASc 121 371 5.72e-134 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000027015
AA Change: D366G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: D366G

DomainStartEndE-ValueType
CARD 4 89 4.91e-19 SMART
CASc 151 400 1.82e-136 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152651
Predicted Effect probably benign
Transcript: ENSMUST00000160064
SMART Domains Protein: ENSMUSP00000124249
Gene: ENSMUSG00000033538

DomainStartEndE-ValueType
CARD 1 89 4.7e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160521
Predicted Effect probably benign
Transcript: ENSMUST00000162846
SMART Domains Protein: ENSMUSP00000124402
Gene: ENSMUSG00000033538

DomainStartEndE-ValueType
Blast:CARD 2 36 2e-17 BLAST
PDB:1IBC|A 18 94 6e-12 PDB
SCOP:g1ibc.1 45 94 6e-15 SMART
Blast:CASc 65 94 7e-13 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563I02Rik A G 14: 60,333,519 (GRCm39) probably benign Het
Acaca T C 11: 84,154,906 (GRCm39) M987T probably benign Het
Acaca A G 11: 84,185,809 (GRCm39) T115A possibly damaging Het
Aknad1 A T 3: 108,688,472 (GRCm39) D600V probably damaging Het
Arfgef3 T A 10: 18,492,701 (GRCm39) T1237S probably benign Het
Brd4 A T 17: 32,431,884 (GRCm39) L660Q probably benign Het
Casp8ap2 C A 4: 32,643,781 (GRCm39) S951R probably benign Het
Chd9 A G 8: 91,777,756 (GRCm39) E2589G probably damaging Het
Dchs1 T C 7: 105,413,411 (GRCm39) T1135A possibly damaging Het
Dnhd1 T C 7: 105,323,628 (GRCm39) V633A probably damaging Het
Dock6 G T 9: 21,750,973 (GRCm39) H400Q probably damaging Het
Dzip1 A G 14: 119,138,952 (GRCm39) F426L probably benign Het
Elovl4 A G 9: 83,662,826 (GRCm39) S236P probably damaging Het
Emp1 T C 6: 135,357,123 (GRCm39) F67S probably damaging Het
Garnl3 A G 2: 32,895,164 (GRCm39) L635P probably damaging Het
Htr7 C A 19: 35,946,703 (GRCm39) probably null Het
Kcnd3 A C 3: 105,576,442 (GRCm39) S629R probably benign Het
Lrp2 T A 2: 69,322,191 (GRCm39) I1913F possibly damaging Het
Med19 T A 2: 84,516,587 (GRCm39) D208E probably benign Het
Mettl21c A T 1: 44,052,792 (GRCm39) V75E probably damaging Het
Nhsl3 T C 4: 129,117,540 (GRCm39) T375A probably damaging Het
Nsd1 A T 13: 55,381,779 (GRCm39) R64S probably damaging Het
Or10g3b A G 14: 52,587,395 (GRCm39) I36T probably benign Het
Or51v8 A T 7: 103,319,674 (GRCm39) I188N probably damaging Het
Or5p50 T A 7: 107,422,007 (GRCm39) Y223F probably benign Het
Peds1 T A 2: 167,496,635 (GRCm39) Q46L possibly damaging Het
Plat T A 8: 23,266,881 (GRCm39) M291K probably benign Het
Psmb4 T C 3: 94,792,322 (GRCm39) E200G probably benign Het
Reln T C 5: 22,359,954 (GRCm39) Y190C probably benign Het
Rp1 A G 1: 4,415,863 (GRCm39) S1750P probably damaging Het
Slc5a4a T A 10: 76,013,915 (GRCm39) probably null Het
Sobp A T 10: 43,034,034 (GRCm39) N97K possibly damaging Het
Stac3 T C 10: 127,339,229 (GRCm39) probably null Het
Stat5b G T 11: 100,687,318 (GRCm39) T436K probably damaging Het
Tas1r3 A T 4: 155,947,772 (GRCm39) M7K probably benign Het
Vps13b C T 15: 35,675,045 (GRCm39) Q1722* probably null Het
Zfp677 A T 17: 21,617,582 (GRCm39) Y213F 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
R2877:Casp1 UTSW 9 5,303,110 (GRCm39) missense probably damaging 1.00
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
(F):5'- CACCTAGAGTGGAAAGGCTAGATC -3'
(R):5'- TGCTCCATATTCTACCAAGGTAAAG -3'

Sequencing Primer
(F):5'- ATCTGTATCAAGGGTTAGGTCTATCC -3'
(R):5'- CACCATGTATGGATTGTTGA -3'
Posted On 2014-10-30