Incidental Mutation 'R6667:Casp2'
ID 527016
Institutional Source Beutler Lab
Gene Symbol Casp2
Ensembl Gene ENSMUSG00000029863
Gene Name caspase 2
Synonyms Nedd2, Ich-1, Caspase-2
MMRRC Submission 044787-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R6667 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 42241942-42259442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42256770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 343 (C343R)
Ref Sequence ENSEMBL: ENSMUSP00000031895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031895] [ENSMUST00000156829]
AlphaFold P29594
Predicted Effect probably damaging
Transcript: ENSMUST00000031895
AA Change: C343R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031895
Gene: ENSMUSG00000029863
AA Change: C343R

CARD 32 120 2.27e-32 SMART
CASc 191 447 3.27e-129 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152893
Predicted Effect probably benign
Transcript: ENSMUST00000156829
SMART Domains Protein: ENSMUSP00000121184
Gene: ENSMUSG00000029863

CARD 32 120 2.27e-32 SMART
CASc 191 341 8.07e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203089
Meta Mutation Damage Score 0.3848 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: This gene encodes the evolutionarily ancient and most conserved member of the cysteine proteases that plays important role in stress-induced apoptosis, DNA repair and tumor suppression. Mice lacking the encoded protein develop normally but display cell type-specific apoptotic defects. Germ cells and oocytes from such mice were found to be resistant to cell death after treatment with chemotherapeutic drugs. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal apoptosis. Apoptosis is reduced in the female germline, but is increased in sympathetic neurons during development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik G T 4: 124,504,435 (GRCm39) A39E probably damaging Het
Agtr1b T A 3: 20,369,913 (GRCm39) N231I possibly damaging Het
Alpk2 T C 18: 65,440,811 (GRCm39) E661G probably damaging Het
Ankrd26 C T 6: 118,484,749 (GRCm39) S1496N probably benign Het
Asah2 T C 19: 31,972,758 (GRCm39) N659S probably benign Het
Atp12a T C 14: 56,621,645 (GRCm39) V760A possibly damaging Het
Cblb T A 16: 51,973,007 (GRCm39) M446K possibly damaging Het
Cipc T C 12: 87,008,864 (GRCm39) V241A probably benign Het
Ddit4l A G 3: 137,331,882 (GRCm39) K83E probably benign Het
Eif1ad10 A T 12: 88,216,475 (GRCm39) D132E unknown Het
Epc2 A G 2: 49,412,681 (GRCm39) T220A probably damaging Het
Epha5 T C 5: 84,219,050 (GRCm39) D741G probably damaging Het
Flg2 A T 3: 93,109,068 (GRCm39) R365S possibly damaging Het
Ggn A T 7: 28,872,093 (GRCm39) H491L possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Ighv6-4 A G 12: 114,370,152 (GRCm39) V100A probably benign Het
Invs A T 4: 48,402,870 (GRCm39) Y501F possibly damaging Het
Iqcm G T 8: 76,479,980 (GRCm39) G313W probably damaging Het
Jph2 A G 2: 163,218,206 (GRCm39) S157P probably damaging Het
Mast4 T C 13: 102,874,004 (GRCm39) E1596G probably damaging Het
Mllt6 T A 11: 97,567,760 (GRCm39) L759Q probably damaging Het
Nalcn A G 14: 123,558,735 (GRCm39) L837P probably damaging Het
Neb G A 2: 52,037,201 (GRCm39) T6836I probably damaging Het
Nol12 T A 15: 78,824,280 (GRCm39) D133E probably benign Het
Or5w13 A G 2: 87,523,914 (GRCm39) V104A probably benign Het
Oxtr C A 6: 112,454,060 (GRCm39) probably benign Het
Pcmt1 A G 10: 7,538,913 (GRCm39) L38P probably damaging Het
Pik3r2 T C 8: 71,221,817 (GRCm39) Y617C probably damaging Het
Potefam3b T C 8: 21,161,955 (GRCm39) S267P probably benign Het
Prl7a2 T C 13: 27,845,024 (GRCm39) N121D probably benign Het
Pvr G T 7: 19,639,727 (GRCm39) Q380K probably benign Het
Rtn2 A G 7: 19,021,184 (GRCm39) E188G probably benign Het
Setd4 C A 16: 93,386,918 (GRCm39) R260L probably benign Het
Six5 A G 7: 18,830,494 (GRCm39) N374D probably benign Het
Slc9b1 T C 3: 135,077,726 (GRCm39) I140T probably damaging Het
Supt16 A G 14: 52,409,520 (GRCm39) F797L probably damaging Het
Tbata T C 10: 61,021,142 (GRCm39) L262P probably damaging Het
Tti1 A T 2: 157,850,347 (GRCm39) C297* probably null Het
Ush1c C A 7: 45,875,048 (GRCm39) G139C probably damaging Het
Vmn1r1 C T 1: 181,985,342 (GRCm39) V108I probably benign Het
Vmn2r116 C T 17: 23,620,066 (GRCm39) T600I probably damaging Het
Zfp764l1 A G 7: 126,992,595 (GRCm39) M5T probably benign Het
Zfp873 A G 10: 81,896,423 (GRCm39) T422A probably benign Het
Zfp943 G A 17: 22,211,889 (GRCm39) C325Y probably damaging Het
Other mutations in Casp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Casp2 APN 6 42,246,219 (GRCm39) nonsense probably null
IGL02094:Casp2 APN 6 42,257,293 (GRCm39) missense probably damaging 1.00
IGL02371:Casp2 APN 6 42,244,902 (GRCm39) missense probably benign 0.00
IGL02414:Casp2 APN 6 42,257,380 (GRCm39) missense probably damaging 1.00
IGL03298:Casp2 APN 6 42,245,924 (GRCm39) splice site probably benign
R1240:Casp2 UTSW 6 42,245,879 (GRCm39) missense probably damaging 1.00
R1424:Casp2 UTSW 6 42,253,725 (GRCm39) splice site probably benign
R1672:Casp2 UTSW 6 42,245,842 (GRCm39) missense probably damaging 1.00
R4110:Casp2 UTSW 6 42,244,828 (GRCm39) missense probably damaging 1.00
R4113:Casp2 UTSW 6 42,244,828 (GRCm39) missense probably damaging 1.00
R5062:Casp2 UTSW 6 42,246,206 (GRCm39) splice site probably benign
R5469:Casp2 UTSW 6 42,246,268 (GRCm39) missense probably benign 0.00
R5835:Casp2 UTSW 6 42,244,520 (GRCm39) missense possibly damaging 0.84
R5877:Casp2 UTSW 6 42,253,571 (GRCm39) intron probably benign
R6103:Casp2 UTSW 6 42,256,814 (GRCm39) missense probably damaging 0.99
R6702:Casp2 UTSW 6 42,244,985 (GRCm39) missense probably benign
R6754:Casp2 UTSW 6 42,246,264 (GRCm39) missense probably damaging 1.00
R7141:Casp2 UTSW 6 42,257,329 (GRCm39) missense possibly damaging 0.68
R7255:Casp2 UTSW 6 42,245,841 (GRCm39) missense probably damaging 1.00
R7611:Casp2 UTSW 6 42,250,972 (GRCm39) missense possibly damaging 0.95
R9135:Casp2 UTSW 6 42,245,882 (GRCm39) missense probably benign 0.03
R9350:Casp2 UTSW 6 42,246,332 (GRCm39) missense probably benign 0.15
X0065:Casp2 UTSW 6 42,257,077 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-07-23