Incidental Mutation 'R6582:Casp4'
ID 524166
Institutional Source Beutler Lab
Gene Symbol Casp4
Ensembl Gene ENSMUSG00000033538
Gene Name caspase 4, apoptosis-related cysteine peptidase
Synonyms Casp11, Caspase-11, ich-3
MMRRC Submission 044706-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6582 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 5308828-5336783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5324884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 232 (Q232R)
Ref Sequence ENSEMBL: ENSMUSP00000027012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027012] [ENSMUST00000160064] [ENSMUST00000162846]
AlphaFold P70343
Predicted Effect probably benign
Transcript: ENSMUST00000027012
AA Change: Q232R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000027012
Gene: ENSMUSG00000033538
AA Change: Q232R

DomainStartEndE-ValueType
CARD 1 92 7.63e-7 SMART
CASc 121 371 5.72e-134 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152651
Predicted Effect probably benign
Transcript: ENSMUST00000159461
SMART Domains Protein: ENSMUSP00000124535
Gene: ENSMUSG00000033538

DomainStartEndE-ValueType
SCOP:d1dgna_ 2 32 7e-7 SMART
Blast:CARD 2 40 9e-22 BLAST
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163086
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: This gene encodes a member of the cysteine proteases that plays important roles in apoptosis, cell migration and the inflammatory response. The encoded protein mediates production of pro-inflammatory cytokines by macrophages upon bacterial infection. Mice lacking the encoded protein are resistant to endotoxic shock induced by lipopolysaccharide. A 5-bp deletion encompassing a splice acceptor junction resulting in alternate splicing and a shorter non-functional isoform in certain mouse strains has been described. Although its official nomenclature is "caspase 4, apoptosis-related cysteine peptidase", this gene and its encoded protein have historically been called caspase 11. This gene is present in a cluster of three caspase genes on chromosome 9. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in decreased levels of serum IL-1alpha and IL-1beta. Mutant animals are resistant to septic shock after injection with LPS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,384 (GRCm39) T2369A probably benign Het
Abhd6 T G 14: 8,042,828 (GRCm38) probably null Het
Abhd6 G T 14: 8,042,826 (GRCm38) G128C probably damaging Het
Acsm3 A G 7: 119,378,896 (GRCm39) E426G probably benign Het
Ankrd11 T C 8: 123,618,368 (GRCm39) D1828G probably benign Het
Asmt T A X: 169,108,766 (GRCm39) probably null Het
Cenpt A T 8: 106,575,833 (GRCm39) L171* probably null Het
Chd3 AGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGG 11: 69,259,982 (GRCm39) probably benign Het
Col5a2 G T 1: 45,429,275 (GRCm39) H948N possibly damaging Het
Dnah9 G T 11: 65,951,923 (GRCm39) H1859N probably damaging Het
Dscaml1 G A 9: 45,664,104 (GRCm39) R1993Q probably benign Het
Fbxw8 C A 5: 118,263,028 (GRCm39) R217L probably benign Het
Flnb T G 14: 7,892,275 (GRCm38) probably null Het
Fyb2 A G 4: 104,802,739 (GRCm39) N214D probably benign Het
Gbp2b A G 3: 142,316,801 (GRCm39) E484G possibly damaging Het
Gzmk A G 13: 113,317,045 (GRCm39) Y45H probably damaging Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kcnj6 A G 16: 94,633,685 (GRCm39) V142A possibly damaging Het
Klri2 A T 6: 129,716,096 (GRCm39) I81K possibly damaging Het
Lama3 T A 18: 12,710,897 (GRCm39) V3144E probably damaging Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mbd3l1 T C 9: 18,396,024 (GRCm39) Y50H probably benign Het
Mcat T C 15: 83,433,383 (GRCm39) N220S probably benign Het
Muc2 A G 7: 141,282,941 (GRCm39) E81G probably benign Het
Neto1 A T 18: 86,512,985 (GRCm39) K327* probably null Het
Or10j3 G T 1: 173,031,847 (GRCm39) R308L probably benign Het
Or4a67 A T 2: 88,598,587 (GRCm39) L24Q probably damaging Het
Or52p1 A T 7: 104,267,648 (GRCm39) Y254F probably damaging Het
Or52u1 T C 7: 104,237,218 (GRCm39) L69P probably damaging Het
Pidd1 A T 7: 141,019,494 (GRCm39) V722D probably damaging Het
Ppp2r2a G T 14: 67,257,253 (GRCm39) H326N probably damaging Het
Smarca5 G A 8: 81,446,281 (GRCm39) T473I probably damaging Het
Spg11 C A 2: 121,922,773 (GRCm39) W892L probably damaging Het
Tas2r110 T A 6: 132,845,248 (GRCm39) I93N possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r71 T A 7: 10,482,608 (GRCm39) I27F probably benign Het
Vsnl1 A G 12: 11,376,489 (GRCm39) V132A probably benign Het
Wdsub1 T C 2: 59,708,652 (GRCm39) T74A probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Other mutations in Casp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02688:Casp4 APN 9 5,322,844 (GRCm39) missense possibly damaging 0.76
BB007:Casp4 UTSW 9 5,321,318 (GRCm39) missense probably damaging 0.99
BB017:Casp4 UTSW 9 5,321,318 (GRCm39) missense probably damaging 0.99
R1302:Casp4 UTSW 9 5,328,518 (GRCm39) nonsense probably null
R1562:Casp4 UTSW 9 5,324,733 (GRCm39) missense possibly damaging 0.69
R1716:Casp4 UTSW 9 5,308,919 (GRCm39) splice site probably null
R2031:Casp4 UTSW 9 5,321,401 (GRCm39) missense probably benign 0.00
R2655:Casp4 UTSW 9 5,322,894 (GRCm39) missense possibly damaging 0.93
R4207:Casp4 UTSW 9 5,328,451 (GRCm39) missense probably benign 0.15
R4432:Casp4 UTSW 9 5,323,653 (GRCm39) missense probably damaging 1.00
R4911:Casp4 UTSW 9 5,328,580 (GRCm39) unclassified probably benign
R5269:Casp4 UTSW 9 5,321,521 (GRCm39) splice site probably benign
R5399:Casp4 UTSW 9 5,324,928 (GRCm39) nonsense probably null
R5800:Casp4 UTSW 9 5,308,915 (GRCm39) critical splice donor site probably null
R5895:Casp4 UTSW 9 5,328,573 (GRCm39) unclassified probably benign
R7253:Casp4 UTSW 9 5,324,868 (GRCm39) missense probably benign 0.37
R7426:Casp4 UTSW 9 5,321,345 (GRCm39) missense possibly damaging 0.87
R7930:Casp4 UTSW 9 5,321,318 (GRCm39) missense probably damaging 0.99
R9550:Casp4 UTSW 9 5,328,465 (GRCm39) missense probably damaging 1.00
R9562:Casp4 UTSW 9 5,324,832 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCATCCCACTAACGAAGTC -3'
(R):5'- ACTTGGGGATTCTGGAAAAGTTC -3'

Sequencing Primer
(F):5'- AAGTCATCGATTTTTCCAGGGC -3'
(R):5'- CCAGGCAAATTTTTGTAATGGCAC -3'
Posted On 2018-06-22