Incidental Mutation 'R8438:Casp9'
ID 654088
Institutional Source Beutler Lab
Gene Symbol Casp9
Ensembl Gene ENSMUSG00000028914
Gene Name caspase 9
Synonyms Caspase-9, Mch6, ICE-LAP6
MMRRC Submission 067778-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8438 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 141520923-141543287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 141540934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 434 (T434N)
Ref Sequence ENSEMBL: ENSMUSP00000030747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030747] [ENSMUST00000097805] [ENSMUST00000102481]
AlphaFold Q8C3Q9
Predicted Effect probably benign
Transcript: ENSMUST00000030747
AA Change: T434N

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914
AA Change: T434N

DomainStartEndE-ValueType
CARD 1 91 2.99e-32 SMART
CASc 190 453 4.64e-111 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097805
AA Change: D397E

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914
AA Change: D397E

DomainStartEndE-ValueType
CARD 1 91 2.99e-32 SMART
CASc 190 402 6.58e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102481
SMART Domains Protein: ENSMUSP00000099539
Gene: ENSMUSG00000058579

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 30 264 2.75e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176781
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,201,962 (GRCm39) probably null Het
5730480H06Rik A T 5: 48,534,425 (GRCm39) H95L probably damaging Het
Abca8a A G 11: 109,966,404 (GRCm39) Y410H probably damaging Het
Abcb4 G A 5: 8,996,120 (GRCm39) probably null Het
Adam8 C T 7: 139,565,249 (GRCm39) probably null Het
Aldh1l1 C T 6: 90,536,428 (GRCm39) P111L probably damaging Het
Baz2b G T 2: 59,747,828 (GRCm39) Y1278* probably null Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cd19 C A 7: 126,013,515 (GRCm39) M91I possibly damaging Het
Celsr2 G A 3: 108,301,139 (GRCm39) T2718M probably damaging Het
Clptm1 G T 7: 19,379,776 (GRCm39) D153E probably benign Het
Col1a2 G A 6: 4,515,517 (GRCm39) G127S unknown Het
Col1a2 G T 6: 4,515,518 (GRCm39) G127V unknown Het
Crybg3 A G 16: 59,385,655 (GRCm39) S190P probably benign Het
Ddrgk1 G A 2: 130,505,302 (GRCm39) probably benign Het
Dennd1a T C 2: 37,746,150 (GRCm39) H402R probably benign Het
Dgat2 T C 7: 98,806,207 (GRCm39) Y330C probably damaging Het
Dnah7b G A 1: 46,227,839 (GRCm39) C1354Y probably damaging Het
Ecd T A 14: 20,388,533 (GRCm39) I119L possibly damaging Het
Entpd1 A G 19: 40,725,224 (GRCm39) K437E possibly damaging Het
Fcgbp C T 7: 27,789,231 (GRCm39) A599V probably benign Het
Gtf3c1 G T 7: 125,241,701 (GRCm39) S1999* probably null Het
Hesx1 C T 14: 26,723,460 (GRCm39) R97C probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hoxb3 A G 11: 96,236,609 (GRCm39) N229S probably benign Het
Itpk1 G A 12: 102,572,418 (GRCm39) probably benign Het
Itprid1 C T 6: 55,874,878 (GRCm39) S276L probably damaging Het
Masp1 T C 16: 23,289,153 (GRCm39) D549G probably benign Het
Mef2c A G 13: 83,804,336 (GRCm39) E312G probably damaging Het
Morn5 A G 2: 35,945,076 (GRCm39) K100R probably benign Het
Mphosph9 A T 5: 124,430,455 (GRCm39) D610E probably benign Het
Obox6 G C 7: 15,567,853 (GRCm39) A198G probably damaging Het
Or2t43 A T 11: 58,457,665 (GRCm39) S169T possibly damaging Het
Or4a75 C T 2: 89,448,054 (GRCm39) V161M possibly damaging Het
Or4a80 A T 2: 89,583,061 (GRCm39) M37K probably damaging Het
Or6b13 C A 7: 139,782,170 (GRCm39) C171F probably damaging Het
Pcdhgb2 A G 18: 37,825,232 (GRCm39) N741S probably benign Het
Plekhh2 A G 17: 84,877,379 (GRCm39) N575D probably benign Het
Plxna4 C A 6: 32,179,115 (GRCm39) G967W probably damaging Het
Ppp3cb C T 14: 20,565,658 (GRCm39) M373I probably damaging Het
Sec14l2 C A 11: 4,059,202 (GRCm39) E156* probably null Het
Srrt A T 5: 137,301,262 (GRCm39) Y55N unknown Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Thada G A 17: 84,743,057 (GRCm39) T789I probably damaging Het
Top3b G T 16: 16,709,364 (GRCm39) S684I probably benign Het
Trpc4 A G 3: 54,129,674 (GRCm39) I147V possibly damaging Het
Tubgcp5 T A 7: 55,454,363 (GRCm39) H219Q possibly damaging Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Vmn1r31 T A 6: 58,449,646 (GRCm39) D73V Het
Wasf3 A T 5: 146,390,237 (GRCm39) Q127L probably benign Het
Xpo6 T C 7: 125,760,054 (GRCm39) T182A possibly damaging Het
Xpo7 C A 14: 70,940,672 (GRCm39) R139S probably benign Het
Zfp687 A T 3: 94,915,433 (GRCm39) S1058T probably benign Het
Zfp786 T C 6: 47,796,934 (GRCm39) E668G probably damaging Het
Zfp831 A T 2: 174,486,796 (GRCm39) R490S 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
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
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'- CCCTTCTTTTACAGTAGCTAATGG -3'
(R):5'- ATGTTTGCATCGCCAAAGGG -3'

Sequencing Primer
(F):5'- GGGTTTATTCTGTAATCCACCTCAGG -3'
(R):5'- GGAAAGAGCAGCCTGCC -3'
Posted On 2020-10-20