Incidental Mutation 'R6289:Casp9'
ID 508295
Institutional Source Beutler Lab
Gene Symbol Casp9
Ensembl Gene ENSMUSG00000028914
Gene Name caspase 9
Synonyms Caspase-9, Mch6, ICE-LAP6
MMRRC Submission 044459-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6289 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 141520923-141543287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 141534496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 302 (V302E)
Ref Sequence ENSEMBL: ENSMUSP00000030747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030747] [ENSMUST00000097805] [ENSMUST00000153094]
AlphaFold Q8C3Q9
Predicted Effect probably damaging
Transcript: ENSMUST00000030747
AA Change: V302E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914
AA Change: V302E

DomainStartEndE-ValueType
CARD 1 91 2.99e-32 SMART
CASc 190 453 4.64e-111 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097805
AA Change: V302E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914
AA Change: V302E

DomainStartEndE-ValueType
CARD 1 91 2.99e-32 SMART
CASc 190 402 6.58e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153094
SMART Domains Protein: ENSMUSP00000121331
Gene: ENSMUSG00000028914

DomainStartEndE-ValueType
CARD 1 90 3.83e-30 SMART
PDB:2AR9|D 182 214 6e-10 PDB
Blast:CASc 189 215 2e-10 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: This gene is part of a family of caspases, aspartate-specific cysteine proteases well studied for their involvement in immune and apoptosis signaling. This protein, the initiator caspase, is activated after cytochrome c release from mitochondria and targets downstream effectors. In mouse, deficiency of this gene can cause perinatal lethality. This protein may have a role in normal brain development. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous targeted mutants die perinatally with enlarged and malformed cerebrums caused by reduced apoptosis during brain development. Broad system- and stimulus-dependent effects are seen on apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,607,480 (GRCm39) V94A probably damaging Het
Ankrd36 T C 11: 5,578,837 (GRCm39) S34P probably damaging Het
Arid3c G A 4: 41,724,285 (GRCm39) probably benign Het
Atg16l1 C T 1: 87,683,937 (GRCm39) R6C probably damaging Het
Bex6 A G 16: 32,005,530 (GRCm39) I113V probably benign Het
Blk T C 14: 63,613,341 (GRCm39) probably null Het
C1s1 A G 6: 124,508,135 (GRCm39) F618S probably damaging Het
Casp8ap2 C T 4: 32,639,590 (GRCm39) H215Y probably damaging Het
Ccl2 A C 11: 81,927,795 (GRCm39) K80Q probably benign Het
Cit T G 5: 116,144,385 (GRCm39) *2014E probably null Het
Dclk2 A T 3: 86,739,124 (GRCm39) S292T probably benign Het
Ddx23 T C 15: 98,547,765 (GRCm39) E463G probably benign Het
Dennd1b T C 1: 139,096,683 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fgf10 C A 13: 118,852,028 (GRCm39) Q37K probably benign Het
Fgf22 A G 10: 79,591,041 (GRCm39) D24G probably damaging Het
Gabra1 A G 11: 42,045,846 (GRCm39) I88T probably damaging Het
Grip2 A G 6: 91,755,852 (GRCm39) I586T probably benign Het
H1f5 G T 13: 21,964,609 (GRCm39) P39Q probably damaging Het
Hpse2 T A 19: 42,777,418 (GRCm39) N583Y probably null Het
Katnal2 A G 18: 77,105,151 (GRCm39) probably null Het
Keg1 T G 19: 12,691,937 (GRCm39) C85G probably damaging Het
Kidins220 T A 12: 25,106,615 (GRCm39) L1356H probably damaging Het
Lifr A G 15: 7,196,391 (GRCm39) K192E probably benign Het
Mks1 T C 11: 87,750,485 (GRCm39) probably null Het
Or5b110-ps1 T C 19: 13,260,158 (GRCm39) K88R possibly damaging Het
Rars1 C T 11: 35,716,894 (GRCm39) M207I probably damaging Het
Rbm6 T C 9: 107,655,147 (GRCm39) Y896C probably damaging Het
Scarf1 T A 11: 75,416,242 (GRCm39) W472R possibly damaging Het
Septin8 A G 11: 53,425,305 (GRCm39) N66S probably damaging Het
Smcr8 T C 11: 60,669,424 (GRCm39) F191L probably damaging Het
Tdrd6 A G 17: 43,935,411 (GRCm39) M1879T probably benign Het
Tlr3 C T 8: 45,849,966 (GRCm39) R901Q probably benign Het
Trpc4ap T C 2: 155,505,627 (GRCm39) T203A possibly damaging Het
Tubgcp5 A G 7: 55,445,671 (GRCm39) S58G probably benign Het
Ubtd2 A G 11: 32,466,177 (GRCm39) E132G probably damaging Het
Uggt2 T A 14: 119,279,014 (GRCm39) E831V probably damaging Het
Umodl1 A G 17: 31,201,325 (GRCm39) N418S probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Wdhd1 A C 14: 47,495,953 (GRCm39) I637S possibly damaging Het
Other mutations in Casp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Casp9 APN 4 141,532,853 (GRCm39) unclassified probably benign
IGL02357:Casp9 APN 4 141,532,783 (GRCm39) missense probably benign 0.00
IGL02426:Casp9 APN 4 141,539,515 (GRCm39) splice site probably null
IGL03027:Casp9 APN 4 141,539,584 (GRCm39) missense probably benign 0.05
PIT4151001:Casp9 UTSW 4 141,521,259 (GRCm39) nonsense probably null
R0352:Casp9 UTSW 4 141,532,841 (GRCm39) missense probably damaging 0.98
R0359:Casp9 UTSW 4 141,521,221 (GRCm39) missense probably damaging 1.00
R0374:Casp9 UTSW 4 141,534,484 (GRCm39) missense possibly damaging 0.81
R1465:Casp9 UTSW 4 141,533,151 (GRCm39) missense probably benign 0.00
R1465:Casp9 UTSW 4 141,533,151 (GRCm39) missense probably benign 0.00
R4660:Casp9 UTSW 4 141,540,934 (GRCm39) missense probably benign
R6020:Casp9 UTSW 4 141,523,849 (GRCm39) missense probably damaging 0.99
R6137:Casp9 UTSW 4 141,532,660 (GRCm39) splice site probably null
R6238:Casp9 UTSW 4 141,534,448 (GRCm39) missense probably damaging 1.00
R7707:Casp9 UTSW 4 141,532,778 (GRCm39) missense probably benign
R8426:Casp9 UTSW 4 141,540,936 (GRCm39) missense probably damaging 1.00
R8438:Casp9 UTSW 4 141,540,934 (GRCm39) missense probably benign 0.31
R9287:Casp9 UTSW 4 141,534,471 (GRCm39) missense probably benign 0.01
X0023:Casp9 UTSW 4 141,540,914 (GRCm39) missense possibly damaging 0.56
Z1088:Casp9 UTSW 4 141,532,772 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGGAATAGGTGCTGACCCG -3'
(R):5'- TGTGTAGAGAAGCCCACTGACC -3'

Sequencing Primer
(F):5'- AATAGGTGCTGACCCGTCTAC -3'
(R):5'- CCAGTGAGGGGCTAACGTG -3'
Posted On 2018-03-15