Incidental Mutation 'PIT4151001:Casp9'
ID 557015
Institutional Source Beutler Lab
Gene Symbol Casp9
Ensembl Gene ENSMUSG00000028914
Gene Name caspase 9
Synonyms Caspase-9, Mch6, ICE-LAP6
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4151001 (G1)
Quality Score 122.008
Status Not validated
Chromosome 4
Chromosomal Location 141520923-141543287 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 141521259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 32 (R32*)
Ref Sequence ENSEMBL: ENSMUSP00000030747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030747] [ENSMUST00000038014] [ENSMUST00000097805] [ENSMUST00000153094] [ENSMUST00000153880]
AlphaFold Q8C3Q9
Predicted Effect probably null
Transcript: ENSMUST00000030747
AA Change: R32*
SMART Domains Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914
AA Change: R32*

DomainStartEndE-ValueType
CARD 1 91 2.99e-32 SMART
CASc 190 453 4.64e-111 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038014
SMART Domains Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697

DomainStartEndE-ValueType
DnaJ 28 85 4.5e-30 SMART
Pfam:Thioredoxin 142 243 4.4e-8 PFAM
low complexity region 537 549 N/A INTRINSIC
low complexity region 730 750 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000097805
AA Change: R32*
SMART Domains Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914
AA Change: R32*

DomainStartEndE-ValueType
CARD 1 91 2.99e-32 SMART
CASc 190 402 6.58e-52 SMART
Predicted Effect probably null
Transcript: ENSMUST00000153094
AA Change: R32*
SMART Domains Protein: ENSMUSP00000121331
Gene: ENSMUSG00000028914
AA Change: R32*

DomainStartEndE-ValueType
CARD 1 90 3.83e-30 SMART
PDB:2AR9|D 182 214 6e-10 PDB
Blast:CASc 189 215 2e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000153880
SMART Domains Protein: ENSMUSP00000120783
Gene: ENSMUSG00000040697

DomainStartEndE-ValueType
DnaJ 28 85 4.5e-30 SMART
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.4%
  • 10x: 84.6%
  • 20x: 72.1%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,930,670 (GRCm39) L1389P probably damaging Het
Acot10 C T 15: 20,666,684 (GRCm39) G19D probably damaging Het
Adam20 G A 8: 41,248,081 (GRCm39) V64I possibly damaging Het
Ak6 T A 13: 100,791,603 (GRCm39) D15E probably damaging Het
Atp1a2 A G 1: 172,118,288 (GRCm39) Y129H probably damaging Het
Caskin1 C T 17: 24,721,193 (GRCm39) T511I probably damaging Het
Ccdc40 A G 11: 119,133,277 (GRCm39) E445G probably damaging Het
Cct8 T C 16: 87,284,545 (GRCm39) E273G probably damaging Het
Chd5 G A 4: 152,462,986 (GRCm39) V1380I probably damaging Het
Coro2b C T 9: 62,336,286 (GRCm39) G272D probably damaging Het
Cyp4a10 C A 4: 115,382,072 (GRCm39) H251Q probably damaging Het
Dgki A T 6: 37,040,916 (GRCm39) H298Q probably benign Het
Dnmt3b T G 2: 153,526,399 (GRCm39) probably null Het
Dzip1 A G 14: 119,160,200 (GRCm39) F3L probably damaging Het
Egf A G 3: 129,496,198 (GRCm39) S807P probably benign Het
Emc10 C T 7: 44,142,627 (GRCm39) R105H Het
Enthd1 T C 15: 80,336,937 (GRCm39) E499G probably damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Fer1l5 T A 1: 36,450,728 (GRCm39) M1242K probably benign Het
Gm3415 A G 5: 146,493,079 (GRCm39) R36G probably benign Het
Gm5797 C A 14: 7,330,318 (GRCm38) M114I possibly damaging Het
Gmppa A T 1: 75,418,468 (GRCm39) R284* probably null Het
Homer1 G C 13: 93,485,724 (GRCm39) K118N probably damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kcnc4 G A 3: 107,366,019 (GRCm39) A63V probably damaging Het
Kif11 T A 19: 37,373,045 (GRCm39) I88N probably damaging Het
Krba1 T C 6: 48,379,831 (GRCm39) F9S probably damaging Het
Nckap1 A G 2: 80,350,714 (GRCm39) probably null Het
Nox4 A T 7: 86,954,097 (GRCm39) Y134F probably benign Het
Or4a79 T A 2: 89,552,237 (GRCm39) T73S probably benign Het
Or51f23c-ps1 T C 7: 102,431,465 (GRCm39) S261P probably benign Het
Or52e15 A G 7: 104,645,424 (GRCm39) L229P probably damaging Het
Or5m13b T A 2: 85,754,386 (GRCm39) M258K probably damaging Het
Or5m8 T C 2: 85,822,538 (GRCm39) C126R probably damaging Het
Or8k22 G T 2: 86,163,173 (GRCm39) H176N possibly damaging Het
Pcdh17 G T 14: 84,684,798 (GRCm39) V422L probably benign Het
Pcx T A 19: 4,653,157 (GRCm39) V275E probably damaging Het
Pde6h A T 6: 136,938,185 (GRCm39) M53L possibly damaging Het
Phactr3 A T 2: 177,975,861 (GRCm39) E535D probably damaging Het
Pkn3 C A 2: 29,980,539 (GRCm39) T810N probably damaging Het
Pnpla5 T C 15: 84,002,827 (GRCm39) E252G probably damaging Het
Pramel21 T A 4: 143,342,722 (GRCm39) C276* probably null Het
Psg17 A G 7: 18,548,530 (GRCm39) S414P probably benign Het
Pzp T A 6: 128,502,259 (GRCm39) Q30L probably benign Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Ret T C 6: 118,141,702 (GRCm39) D975G probably benign Het
Sarnp A G 10: 128,713,235 (GRCm39) I209V probably benign Het
Sorl1 A T 9: 41,879,918 (GRCm39) V2210D probably damaging Het
Stard9 C T 2: 120,533,237 (GRCm39) Q3165* probably null Het
Tmem64 A T 4: 15,283,159 (GRCm39) I319F probably damaging Het
Vmn1r176 A T 7: 23,534,808 (GRCm39) V115D probably damaging Het
Vmn1r2 A G 4: 3,172,623 (GRCm39) T181A probably benign Het
Vmn2r2 T C 3: 64,024,334 (GRCm39) E749G possibly damaging Het
Vps35 G A 8: 86,010,677 (GRCm39) T222I possibly damaging Het
Zfp532 A G 18: 65,757,485 (GRCm39) T473A probably damaging Het
Zfyve16 A G 13: 92,657,712 (GRCm39) V733A probably damaging Het
Zranb1 T A 7: 132,551,723 (GRCm39) S125T probably benign 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
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
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'- TTAGTCCGTACGGCGAAGTG -3'
(R):5'- TTGTGGCGAACTAAGAGGGC -3'

Sequencing Primer
(F):5'- TTGAATGCAGCGCCAGTG -3'
(R):5'- CACACCATGGTTTCCCAGG -3'
Posted On 2019-06-07