Incidental Mutation 'R2159:Casp3'
ID 235054
Institutional Source Beutler Lab
Gene Symbol Casp3
Ensembl Gene ENSMUSG00000031628
Gene Name caspase 3
Synonyms AC-3, Apopain, Caspase-3, CPP32, Yama, A830040C14Rik, CC3, mldy
MMRRC Submission 040162-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2159 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 47070326-47092724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47087323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 90 (D90G)
Ref Sequence ENSEMBL: ENSMUSP00000147700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093517] [ENSMUST00000210534] [ENSMUST00000211115]
AlphaFold P70677
Predicted Effect probably damaging
Transcript: ENSMUST00000093517
AA Change: D90G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091238
Gene: ENSMUSG00000031628
AA Change: D90G

DomainStartEndE-ValueType
CASc 36 277 9.95e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209668
Predicted Effect probably damaging
Transcript: ENSMUST00000210534
AA Change: D90G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211115
AA Change: D90G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that belongs to a highly conserved family of cysteinyl aspartate-specific proteases that function as essential regulators of programmed cell death through apoptosis. Members of this family contain an N-terminal pro-domain and require cleavage at specific aspartate residues to become mature. The protein encoded by this gene belongs to a subgroup of cysteinyl aspartate-specific proteases that are activated by initiator caspases and that perform the proteolytic cleavage of apoptotic target proteins. Mice defective for this gene exhibit a variety of phenotypes including reduced neuronal apoptosis resulting in hyperplasias, hearing loss, attenuated osteogenic differentiation of bone marrow stromal stem cells, and pre- and post-natal lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Some homozygous animals show defects in brain development by embryonic day 12, reduced neuronal apoptosis causing hyperplasias, and pre- and postnatal lethality. Other homozygous animals exhibit only hearing loss, inner ear defects and degeneration of spiral ganglion neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,607,241 (GRCm39) P174S probably benign Het
Aida C T 1: 183,103,234 (GRCm39) P185S probably benign Het
Alg11 T G 8: 22,555,861 (GRCm39) I374R probably benign Het
Ano9 T C 7: 140,688,030 (GRCm39) I229V probably benign Het
Apob A T 12: 8,060,081 (GRCm39) L2821F probably benign Het
Atp10b C T 11: 43,042,680 (GRCm39) T80I possibly damaging Het
BC024139 T C 15: 76,005,688 (GRCm39) H478R probably damaging Het
Btbd1 A T 7: 81,450,804 (GRCm39) D325E possibly damaging Het
Camk2a G A 18: 61,090,257 (GRCm39) C199Y probably damaging Het
Ccnt2 A G 1: 127,702,891 (GRCm39) H71R probably benign Het
Cdk2ap1 G A 5: 124,486,667 (GRCm39) R65* probably null Het
Cebpb G T 2: 167,531,173 (GRCm39) A78S probably benign Het
Col5a3 A G 9: 20,682,606 (GRCm39) F1613L unknown Het
Cpd T C 11: 76,688,467 (GRCm39) D935G probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cwc27 A G 13: 104,940,837 (GRCm39) I174T probably damaging Het
Cyp21a1 C A 17: 35,021,378 (GRCm39) R331L probably benign Het
Dnah5 A G 15: 28,252,691 (GRCm39) T795A probably benign Het
Eif2ak2 A G 17: 79,181,447 (GRCm39) V100A possibly damaging Het
Foxa3 A G 7: 18,748,109 (GRCm39) V339A probably benign Het
Gp2 T C 7: 119,051,507 (GRCm39) D236G probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gzmd T A 14: 56,368,153 (GRCm39) H102L probably damaging Het
Klk1b1 A T 7: 43,619,857 (GRCm39) I139F probably damaging Het
Lcmt2 G A 2: 120,969,766 (GRCm39) P439L probably damaging Het
Loxl4 C T 19: 42,588,446 (GRCm39) A570T probably damaging Het
Mga T A 2: 119,750,124 (GRCm39) H674Q probably damaging Het
Mybpc3 A T 2: 90,955,715 (GRCm39) K583M probably damaging Het
Ncoa6 G T 2: 155,249,633 (GRCm39) P1224T probably damaging Het
Nostrin A G 2: 69,011,266 (GRCm39) probably null Het
Or13e8 T C 4: 43,697,110 (GRCm39) H21R probably benign Het
Or4c3 A T 2: 89,851,882 (GRCm39) V176E probably damaging Het
Oxsr1 A C 9: 119,133,880 (GRCm39) D58E possibly damaging Het
Parm1 A G 5: 91,760,923 (GRCm39) Y265C probably damaging Het
Phf10 C T 17: 15,172,926 (GRCm39) E304K probably damaging Het
Prmt5 T C 14: 54,752,795 (GRCm39) T139A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptp4a3 A G 15: 73,623,865 (GRCm39) T32A probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rad51ap2 T C 12: 11,507,752 (GRCm39) L558S possibly damaging Het
Rapgef4 A G 2: 72,005,225 (GRCm39) D80G probably damaging Het
Sec24a T G 11: 51,603,177 (GRCm39) H757P probably damaging Het
Sema4d T C 13: 51,874,571 (GRCm39) N129D probably damaging Het
Serpini1 A G 3: 75,531,251 (GRCm39) T323A probably benign Het
Setd1a G A 7: 127,384,661 (GRCm39) R504H possibly damaging Het
Sftpb T C 6: 72,286,770 (GRCm39) C226R probably damaging Het
Sp8 T C 12: 118,812,441 (GRCm39) S99P possibly damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Stim2 T C 5: 54,267,156 (GRCm39) Y365H probably damaging Het
Stk36 A G 1: 74,673,896 (GRCm39) Q1263R probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Troap G T 15: 98,975,467 (GRCm39) A184S probably damaging Het
Ttn G A 2: 76,729,671 (GRCm39) probably benign Het
Vmn2r108 C A 17: 20,689,363 (GRCm39) A531S probably benign Het
Vmn2r12 T A 5: 109,239,340 (GRCm39) I408F probably benign Het
Vmn2r8 T A 5: 108,950,169 (GRCm39) E226V probably benign Het
Vmo1 A G 11: 70,404,608 (GRCm39) F131S probably benign Het
Vwf T C 6: 125,603,304 (GRCm39) F885L probably damaging Het
Wdpcp A T 11: 21,807,476 (GRCm39) M618L probably benign Het
Wdr90 T C 17: 26,070,715 (GRCm39) E1072G probably benign Het
Other mutations in Casp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01753:Casp3 APN 8 47,082,776 (GRCm39) utr 5 prime probably benign
warner UTSW 8 47,088,423 (GRCm39) missense probably damaging 1.00
R0601:Casp3 UTSW 8 47,089,262 (GRCm39) missense probably benign 0.00
R1541:Casp3 UTSW 8 47,087,369 (GRCm39) missense probably benign 0.02
R1648:Casp3 UTSW 8 47,091,109 (GRCm39) missense probably benign
R2046:Casp3 UTSW 8 47,082,761 (GRCm39) splice site probably benign
R2176:Casp3 UTSW 8 47,082,791 (GRCm39) missense probably damaging 1.00
R2251:Casp3 UTSW 8 47,090,990 (GRCm39) missense probably damaging 0.98
R2252:Casp3 UTSW 8 47,090,990 (GRCm39) missense probably damaging 0.98
R2253:Casp3 UTSW 8 47,090,990 (GRCm39) missense probably damaging 0.98
R4095:Casp3 UTSW 8 47,087,251 (GRCm39) missense probably damaging 1.00
R4209:Casp3 UTSW 8 47,088,423 (GRCm39) missense probably damaging 1.00
R4211:Casp3 UTSW 8 47,088,423 (GRCm39) missense probably damaging 1.00
R4868:Casp3 UTSW 8 47,087,314 (GRCm39) missense probably benign 0.01
R5713:Casp3 UTSW 8 47,089,349 (GRCm39) missense probably damaging 1.00
R6847:Casp3 UTSW 8 47,089,301 (GRCm39) missense probably benign 0.00
R6957:Casp3 UTSW 8 47,087,308 (GRCm39) missense probably damaging 1.00
R7196:Casp3 UTSW 8 47,088,498 (GRCm39) missense possibly damaging 0.94
R7608:Casp3 UTSW 8 47,087,368 (GRCm39) missense probably benign
R7682:Casp3 UTSW 8 47,085,420 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GCATGGCTGCCTAGTTCATTTATTC -3'
(R):5'- TGTAAGGATGCGGACTGCTG -3'

Sequencing Primer
(F):5'- GCTGCCTAGTTCATTTATTCTCAAAG -3'
(R):5'- TGCTGGATCCTGCTAGCAG -3'
Posted On 2014-10-01