Incidental Mutation 'R4211:Casp3'
ID 319197
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4211 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 47070326-47092724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 47088423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 107 (D107Y)
Ref Sequence ENSEMBL: ENSMUSP00000147767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093517] [ENSMUST00000210534] [ENSMUST00000211115]
AlphaFold P70677
Predicted Effect probably damaging
Transcript: ENSMUST00000093517
AA Change: D107Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091238
Gene: ENSMUSG00000031628
AA Change: D107Y

DomainStartEndE-ValueType
CASc 36 277 9.95e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209668
Predicted Effect probably benign
Transcript: ENSMUST00000210534
Predicted Effect probably damaging
Transcript: ENSMUST00000211115
AA Change: D107Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8371 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,283,209 (GRCm39) I166V probably benign Het
Albfm1 T G 5: 90,712,096 (GRCm39) V63G probably damaging Het
Anapc5 T C 5: 122,955,968 (GRCm39) E154G probably benign Het
Anpep A T 7: 79,490,744 (GRCm39) Y257* probably null Het
Atp8b1 A T 18: 64,686,118 (GRCm39) D688E probably damaging Het
Bub1b C A 2: 118,461,459 (GRCm39) H670Q possibly damaging Het
Castor2 T C 5: 134,154,783 (GRCm39) probably null Het
Clcc1 A T 3: 108,570,907 (GRCm39) Y105F possibly damaging Het
Cr2 A C 1: 194,838,636 (GRCm39) L671R probably damaging Het
Cttnbp2 A G 6: 18,427,542 (GRCm39) V713A probably damaging Het
Cyp4a31 T C 4: 115,422,210 (GRCm39) F65L probably benign Het
Dpysl2 T C 14: 67,052,926 (GRCm39) S308G probably damaging Het
Dusp22 A T 13: 30,892,726 (GRCm39) I168F probably benign Het
Ecel1 A G 1: 87,079,872 (GRCm39) S414P probably damaging Het
Fat2 A G 11: 55,174,810 (GRCm39) F1968L probably damaging Het
Fsip2 C T 2: 82,805,493 (GRCm39) T604I probably damaging Het
H2-DMb1 T A 17: 34,374,547 (GRCm39) F66I possibly damaging Het
Hgf T C 5: 16,819,991 (GRCm39) V574A probably damaging Het
Hoxa7 A T 6: 52,193,605 (GRCm39) Y137* probably null Het
Ikbke T A 1: 131,191,085 (GRCm39) I519F probably damaging Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Kmt2d A G 15: 98,738,070 (GRCm39) probably benign Het
Larp7 T A 3: 127,340,603 (GRCm39) R112S probably benign Het
Lepr C T 4: 101,590,611 (GRCm39) A63V probably benign Het
Lmx1a G T 1: 167,660,428 (GRCm39) V238L probably damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mcmbp T C 7: 128,317,729 (GRCm39) E172G possibly damaging Het
Mcpt8 G A 14: 56,321,375 (GRCm39) H30Y probably damaging Het
Nek8 C A 11: 78,061,309 (GRCm39) V379L probably benign Het
Numa1 T G 7: 101,658,945 (GRCm39) L356R probably damaging Het
Pard6b C T 2: 167,940,943 (GRCm39) A310V probably benign Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Phtf1 G A 3: 103,910,919 (GRCm39) probably null Het
Plch1 C A 3: 63,618,640 (GRCm39) D675Y probably damaging Het
Plk2 A G 13: 110,532,871 (GRCm39) H144R probably damaging Het
Rax T A 18: 66,068,152 (GRCm39) N318Y unknown Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Smarcd2 T A 11: 106,157,731 (GRCm39) K138* probably null Het
Taar7e A T 10: 23,913,932 (GRCm39) I141F probably damaging Het
Taar7f T A 10: 23,925,921 (GRCm39) W172R probably damaging Het
Tango6 A G 8: 107,415,856 (GRCm39) I226V probably benign Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tdp1 C A 12: 99,864,588 (GRCm39) A243E probably damaging Het
Tfpt A G 7: 3,623,386 (GRCm39) Y240H probably damaging Het
Tmod4 A G 3: 95,035,140 (GRCm39) D215G probably benign Het
Top3b A G 16: 16,700,396 (GRCm39) probably null Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Zfand2b A T 1: 75,146,454 (GRCm39) M110L probably benign Het
Zfyve1 A T 12: 83,621,909 (GRCm39) V162E probably damaging 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
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
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'- CAGCATCTTCATCTTGTCATGG -3'
(R):5'- GTTAACCAAACTGAGCACCGAG -3'

Sequencing Primer
(F):5'- TGTCATGGTATAACAGTAACCCCAG -3'
(R):5'- GAGCTGCTGGGCAATGC -3'
Posted On 2015-06-10