Incidental Mutation 'R2046:Casp3'
ID 271607
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 040053-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2046 (G1)
Quality Score 136
Status Validated
Chromosome 8
Chromosomal Location 47070326-47092724 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 47082761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093517] [ENSMUST00000210534] [ENSMUST00000211115]
AlphaFold P70677
Predicted Effect probably benign
Transcript: ENSMUST00000093517
SMART Domains Protein: ENSMUSP00000091238
Gene: ENSMUSG00000031628

DomainStartEndE-ValueType
CASc 36 277 9.95e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209668
Predicted Effect probably benign
Transcript: ENSMUST00000210534
Predicted Effect probably benign
Transcript: ENSMUST00000211115
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (71/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,553 (GRCm39) D84V probably damaging Het
Abcc5 A T 16: 20,218,567 (GRCm39) S272T possibly damaging Het
Adgre4 A G 17: 56,085,847 (GRCm39) N49D possibly damaging Het
Ap2b1 A T 11: 83,227,212 (GRCm39) Y328F probably benign Het
Arhgef33 G C 17: 80,680,895 (GRCm39) E678D probably benign Het
Arid2 G A 15: 96,267,268 (GRCm39) V583I probably damaging Het
Bdkrb1 T A 12: 105,570,985 (GRCm39) S184T probably benign Het
Bend3 T C 10: 43,387,842 (GRCm39) F745S probably damaging Het
Card10 A T 15: 78,671,673 (GRCm39) V597E possibly damaging Het
Ccnb2 A G 9: 70,316,629 (GRCm39) V340A probably benign Het
Cdkl3 G T 11: 51,917,677 (GRCm39) V325L probably benign Het
Clec4n T A 6: 123,223,463 (GRCm39) N153K probably benign Het
Crtac1 C T 19: 42,322,492 (GRCm39) V83I probably damaging Het
Cul9 C A 17: 46,854,659 (GRCm39) L14F probably damaging Het
Dgka T C 10: 128,559,404 (GRCm39) Y519C probably damaging Het
Dhrs7 T G 12: 72,699,040 (GRCm39) K314T possibly damaging Het
Dnaaf9 T A 2: 130,652,837 (GRCm39) I42L possibly damaging Het
Dnah10 G T 5: 124,873,405 (GRCm39) K2542N probably benign Het
Dock5 A T 14: 68,049,591 (GRCm39) V731E probably benign Het
Dpy19l1 T A 9: 24,334,455 (GRCm39) H571L probably damaging Het
Dzip1 A T 14: 119,159,890 (GRCm39) I106N probably damaging Het
Eif2ak4 A T 2: 118,281,889 (GRCm39) probably benign Het
Epha4 T C 1: 77,483,799 (GRCm39) Y70C probably damaging Het
Eps15 T C 4: 109,227,793 (GRCm39) F344S probably damaging Het
Erbb4 C T 1: 68,337,482 (GRCm39) R612Q probably benign Het
Fam83h T C 15: 75,874,787 (GRCm39) H850R probably benign Het
Fancg A G 4: 43,004,604 (GRCm39) C484R probably damaging Het
Fzd9 A G 5: 135,278,538 (GRCm39) I449T probably damaging Het
Gm10647 A G 9: 66,705,519 (GRCm39) probably benign Het
Iigp1c T A 18: 60,378,571 (GRCm39) H35Q probably benign Het
Itga11 C T 9: 62,634,979 (GRCm39) L86F probably damaging Het
Lamc2 C T 1: 153,017,511 (GRCm39) R492H probably benign Het
Marchf6 A G 15: 31,486,580 (GRCm39) V325A probably benign Het
Myo5b A T 18: 74,710,526 (GRCm39) I47F probably benign Het
Nek9 T A 12: 85,367,481 (GRCm39) probably benign Het
Nelfb T A 2: 25,096,323 (GRCm39) N262I probably damaging Het
Neurl4 A G 11: 69,799,523 (GRCm39) D942G probably damaging Het
Nipbl G A 15: 8,353,951 (GRCm39) P1729S probably benign Het
Nr4a3 A G 4: 48,067,807 (GRCm39) T468A possibly damaging Het
Nrm G A 17: 36,175,109 (GRCm39) V146I probably benign Het
Or8h9 C A 2: 86,789,077 (GRCm39) A242S possibly damaging Het
Pitx3 T C 19: 46,125,618 (GRCm39) E42G possibly damaging Het
Pkd1l2 C T 8: 117,726,694 (GRCm39) A2271T probably damaging Het
Pofut2 A G 10: 77,096,428 (GRCm39) N51S probably damaging Het
Ppp1r3a T C 6: 14,722,103 (GRCm39) E273G probably benign Het
Psme4 A G 11: 30,767,723 (GRCm39) probably benign Het
Pus7l T C 15: 94,438,666 (GRCm39) I60V probably benign Het
Pygo2 T A 3: 89,340,455 (GRCm39) N284K possibly damaging Het
Ralgapa1 C T 12: 55,741,945 (GRCm39) C1368Y probably damaging Het
Rbm45 G A 2: 76,205,742 (GRCm39) G198E probably benign Het
Reln T C 5: 22,147,625 (GRCm39) I2442V probably benign Het
Rmi1 T C 13: 58,555,772 (GRCm39) V7A probably benign Het
Rsf1 T C 7: 97,310,884 (GRCm39) L538P probably benign Het
Rsph4a T G 10: 33,790,539 (GRCm39) probably benign Het
Sardh A T 2: 27,105,094 (GRCm39) D676E possibly damaging Het
Sh3tc2 A G 18: 62,123,914 (GRCm39) M892V probably benign Het
Slc38a11 A G 2: 65,188,529 (GRCm39) F80S probably damaging Het
Slc6a2 C A 8: 93,699,554 (GRCm39) S194* probably null Het
Slco2b1 A G 7: 99,339,686 (GRCm39) F86L probably damaging Het
Smc3 G A 19: 53,627,845 (GRCm39) D875N probably benign Het
Sp100 G A 1: 85,636,786 (GRCm39) E575K possibly damaging Het
Spns2 A G 11: 72,349,866 (GRCm39) L196P possibly damaging Het
Taf8 A G 17: 47,801,201 (GRCm39) S261P probably benign Het
Trim2 A G 3: 84,115,596 (GRCm39) L86P probably damaging Het
Ttn C A 2: 76,738,138 (GRCm39) V4134F probably benign Het
Ush2a A G 1: 188,089,124 (GRCm39) T360A probably benign Het
Usp28 T A 9: 48,950,375 (GRCm39) C935S probably damaging Het
Vps37d T A 5: 135,102,831 (GRCm39) M134L probably benign Het
Vwa2 T G 19: 56,894,010 (GRCm39) V329G probably benign Het
Zfp110 A G 7: 12,583,349 (GRCm39) R666G 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
R2159:Casp3 UTSW 8 47,087,323 (GRCm39) missense probably damaging 1.00
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'- GAGCTGCACACTCTGTTTTC -3'
(R):5'- GCGCAAACCCATCTTTGAC -3'

Sequencing Primer
(F):5'- GCACACTCTGTTTTCTTGATGTAATG -3'
(R):5'- CCAGGCACAGTAGTAACTTGTTC -3'
Posted On 2015-03-23