Incidental Mutation 'R4113:Casp2'
ID 314499
Institutional Source Beutler Lab
Gene Symbol Casp2
Ensembl Gene ENSMUSG00000029863
Gene Name caspase 2
Synonyms Nedd2, Ich-1, Caspase-2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R4113 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 42241942-42259442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 42244828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 76 (A76T)
Ref Sequence ENSEMBL: ENSMUSP00000121184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031895] [ENSMUST00000095987] [ENSMUST00000156829]
AlphaFold P29594
Predicted Effect probably damaging
Transcript: ENSMUST00000031895
AA Change: A76T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031895
Gene: ENSMUSG00000029863
AA Change: A76T

CARD 32 120 2.27e-32 SMART
CASc 191 447 3.27e-129 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095987
SMART Domains Protein: ENSMUSP00000100590
Gene: ENSMUSG00000071506

transmembrane domain 13 32 N/A INTRINSIC
Pfam:TMEM51 58 194 1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144821
Predicted Effect probably damaging
Transcript: ENSMUST00000156829
AA Change: A76T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121184
Gene: ENSMUSG00000029863
AA Change: A76T

CARD 32 120 2.27e-32 SMART
CASc 191 341 8.07e-38 SMART
Meta Mutation Damage Score 0.3167 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
BC024139 A G 15: 76,005,827 (GRCm39) M458T probably benign Het
Catsper3 A G 13: 55,934,183 (GRCm39) K35E probably damaging Het
Ccdc88c A G 12: 100,911,332 (GRCm39) L34P probably damaging Het
Dcaf13 T A 15: 38,993,615 (GRCm39) I236N probably damaging Het
Dip2c G T 13: 9,687,137 (GRCm39) G1254C probably damaging Het
Dnah12 T C 14: 26,414,722 (GRCm39) L41P probably damaging Het
Dnah17 T C 11: 118,003,420 (GRCm39) K514R possibly damaging Het
Dnajb12 T A 10: 59,730,136 (GRCm39) S270R possibly damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Eya4 G T 10: 23,031,849 (GRCm39) S235Y probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gdf3 A G 6: 122,584,016 (GRCm39) I117T probably damaging Het
Gm5611 T A 9: 16,941,989 (GRCm39) noncoding transcript Het
Gtf3c4 G A 2: 28,717,567 (GRCm39) T771I probably damaging Het
Hrh3 C A 2: 179,744,643 (GRCm39) R99L possibly damaging Het
Hyls1 T A 9: 35,472,714 (GRCm39) Y234F probably damaging Het
Irak1bp1 T C 9: 82,728,728 (GRCm39) S220P probably benign Het
Lama1 G A 17: 68,071,698 (GRCm39) V862I probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Or14a258 G A 7: 86,035,733 (GRCm39) T45M possibly damaging Het
Or4b12 A T 2: 90,096,684 (GRCm39) L30H probably damaging Het
Pcdh8 T C 14: 80,004,953 (GRCm39) D927G probably damaging Het
Prelid3a T C 18: 67,605,967 (GRCm39) Y25H probably damaging Het
Ptprm T C 17: 67,032,808 (GRCm39) D1015G probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Riox2 C T 16: 59,312,257 (GRCm39) L465F probably benign Het
Sec31b G T 19: 44,512,968 (GRCm39) T507N possibly damaging Het
Stab1 C T 14: 30,890,436 (GRCm39) R5Q probably damaging Het
Stmn3 T C 2: 180,949,089 (GRCm39) K135E possibly damaging Het
Synj2 G A 17: 6,058,240 (GRCm39) G243S probably benign Het
Tasor C T 14: 27,181,918 (GRCm39) R483* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tshz2 C A 2: 169,727,450 (GRCm39) P213Q probably benign Het
Tssk4 A G 14: 55,887,830 (GRCm39) T9A probably benign Het
Ube4a T A 9: 44,860,247 (GRCm39) I272F probably damaging Het
Unc79 T C 12: 103,025,629 (GRCm39) C339R probably damaging Het
Vmn2r87 T C 10: 130,315,691 (GRCm39) D125G probably benign Het
Yap1 A T 9: 7,938,432 (GRCm39) *358K probably null Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y 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
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
R6667:Casp2 UTSW 6 42,256,770 (GRCm39) missense probably damaging 1.00
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 2015-05-14