Incidental Mutation 'R6238:Casp9'
ID 505041
Institutional Source Beutler Lab
Gene Symbol Casp9
Ensembl Gene ENSMUSG00000028914
Gene Name caspase 9
Synonyms Caspase-9, Mch6, ICE-LAP6
MMRRC Submission 044401-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6238 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 141520923-141543287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 141534448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 286 (G286V)
Ref Sequence ENSEMBL: ENSMUSP00000095414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030747] [ENSMUST00000097805] [ENSMUST00000153094]
AlphaFold Q8C3Q9
Predicted Effect probably damaging
Transcript: ENSMUST00000030747
AA Change: G286V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914
AA Change: G286V

DomainStartEndE-ValueType
CARD 1 91 2.99e-32 SMART
CASc 190 453 4.64e-111 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097805
AA Change: G286V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914
AA Change: G286V

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
Meta Mutation Damage Score 0.9354 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A C 10: 76,285,096 (GRCm39) T2P possibly damaging Het
2610042L04Rik A G 14: 4,348,962 (GRCm38) N41S probably damaging Het
4933402N03Rik T C 7: 130,747,863 (GRCm39) D43G probably benign Het
Adcy10 C A 1: 165,403,297 (GRCm39) Y1598* probably null Het
Adgrv1 G A 13: 81,614,402 (GRCm39) T3997M probably benign Het
Amfr A C 8: 94,726,992 (GRCm39) F74V probably damaging Het
Ankrd13a T C 5: 114,924,787 (GRCm39) Y91H probably benign Het
Baiap3 A G 17: 25,464,732 (GRCm39) S767P probably benign Het
Car12 C T 9: 66,661,008 (GRCm39) T124I probably damaging Het
Cc2d2a T A 5: 43,828,577 (GRCm39) D18E probably benign Het
Cdc27 T C 11: 104,419,270 (GRCm39) N221D probably damaging Het
Cebpz A G 17: 79,244,339 (GRCm39) S41P possibly damaging Het
Cenpo T A 12: 4,281,968 (GRCm39) S10C possibly damaging Het
Chid1 A G 7: 141,076,049 (GRCm39) V368A probably benign Het
Clca3a1 C A 3: 144,714,716 (GRCm39) V634L probably benign Het
Cmtr1 A G 17: 29,901,122 (GRCm39) D683G probably damaging Het
Cpsf3 G T 12: 21,350,163 (GRCm39) R294L probably damaging Het
Ddrgk1 G A 2: 130,496,599 (GRCm39) T255M possibly damaging Het
Dennd6a T A 14: 26,337,813 (GRCm39) probably null Het
Dnah10 A G 5: 124,820,743 (GRCm39) R526G probably damaging Het
Dock3 G A 9: 106,790,147 (GRCm39) T1484I probably benign Het
Efcab10 T C 12: 33,448,433 (GRCm39) Y89H probably damaging Het
Etl4 T A 2: 20,806,379 (GRCm39) D1200E probably damaging Het
Fbn1 T A 2: 125,166,865 (GRCm39) D2017V probably damaging Het
Ftmt G A 18: 52,465,307 (GRCm39) V208M probably damaging Het
Fzd10 T C 5: 128,679,995 (GRCm39) Y572H probably damaging Het
Gcc1 T C 6: 28,420,742 (GRCm39) K39E probably damaging Het
Hydin A G 8: 111,118,743 (GRCm39) probably null Het
Lif A G 11: 4,218,940 (GRCm39) E73G possibly damaging Het
Lrtm1 C A 14: 28,749,628 (GRCm39) Q357K probably benign Het
Mef2d T A 3: 88,066,852 (GRCm39) L205Q probably damaging Het
Naalad2 T A 9: 18,296,361 (GRCm39) E96D probably damaging Het
Nbas T C 12: 13,532,596 (GRCm39) I1768T probably benign Het
Nodal T C 10: 61,259,258 (GRCm39) S232P probably damaging Het
Or52ab7 A T 7: 102,978,115 (GRCm39) I141F possibly damaging Het
Or8b12c A G 9: 37,715,317 (GRCm39) T37A probably benign Het
Parl G A 16: 20,120,963 (GRCm39) R39C possibly damaging Het
Pcdha9 G A 18: 37,132,028 (GRCm39) V366I probably benign Het
Pdzd8 A G 19: 59,288,994 (GRCm39) V802A probably benign Het
Plcl2 T C 17: 50,913,873 (GRCm39) V294A probably damaging Het
Plxna2 T A 1: 194,472,504 (GRCm39) S1083T probably benign Het
Polr2a G T 11: 69,638,047 (GRCm39) L141I possibly damaging Het
Ptpre C A 7: 135,272,909 (GRCm39) R468S probably damaging Het
Raet1e T A 10: 22,056,770 (GRCm39) N115K probably benign Het
Rfx8 C A 1: 39,709,554 (GRCm39) S491I probably damaging Het
Rpe T A 1: 66,740,807 (GRCm39) L48* probably null Het
Skint5 A T 4: 113,800,064 (GRCm39) probably null Het
Spata24 C A 18: 35,793,389 (GRCm39) S111I possibly damaging Het
Suz12 G C 11: 79,893,006 (GRCm39) probably benign Het
Taf4 T A 2: 179,573,832 (GRCm39) I679F probably damaging Het
Tlr1 G T 5: 65,084,472 (GRCm39) P35Q possibly damaging Het
Tonsl T C 15: 76,520,418 (GRCm39) probably null Het
Tsen54 G A 11: 115,711,513 (GRCm39) R310H probably benign Het
Ttc7b A G 12: 100,461,681 (GRCm39) S99P probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uhmk1 T A 1: 170,027,563 (GRCm39) N378I probably damaging Het
Vmn2r107 A G 17: 20,565,849 (GRCm39) T55A probably benign Het
Vmn2r74 C T 7: 85,601,280 (GRCm39) C786Y probably damaging Het
Wdr20rt C T 12: 65,272,964 (GRCm39) probably benign Het
Zfand2a T A 5: 139,467,746 (GRCm39) H42L probably damaging Het
Zfp990 T A 4: 145,264,483 (GRCm39) C494S probably damaging Het
Zkscan4 A T 13: 21,668,757 (GRCm39) R403W 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
R6289:Casp9 UTSW 4 141,534,496 (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'- ATAGGTGCTGACCCGTCTAC -3'
(R):5'- AGATGTGTAGAGAAGCCCACTG -3'

Sequencing Primer
(F):5'- ACTCCATCTTGGTTAATCTGATGTC -3'
(R):5'- CCAGTGAGGGGCTAACGTG -3'
Posted On 2018-02-28