Incidental Mutation 'R8514:Casp12'
ID 656037
Institutional Source Beutler Lab
Gene Symbol Casp12
Ensembl Gene ENSMUSG00000025887
Gene Name caspase 12
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8514 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 5345430-5373032 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5352735 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 186 (F186L)
Ref Sequence ENSEMBL: ENSMUSP00000027009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027009] [ENSMUST00000151332] [ENSMUST00000151788]
AlphaFold O08736
Predicted Effect probably damaging
Transcript: ENSMUST00000027009
AA Change: F186L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027009
Gene: ENSMUSG00000025887
AA Change: F186L

DomainStartEndE-ValueType
CARD 1 83 3.54e-2 SMART
CASc 165 417 2.59e-132 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151332
AA Change: F116L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122201
Gene: ENSMUSG00000025887
AA Change: F116L

DomainStartEndE-ValueType
CASc 95 347 2.59e-132 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151788
AA Change: F186L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121565
Gene: ENSMUSG00000025887
AA Change: F186L

DomainStartEndE-ValueType
CARD 1 83 3.54e-2 SMART
Pfam:Peptidase_C14 176 230 1.1e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (49/51)
MGI Phenotype PHENOTYPE: Homozygous mice for some mutations of this gene display resistance to ER stress-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcam A G 7: 19,758,541 V543A probably damaging Het
C330027C09Rik T C 16: 48,997,447 V60A possibly damaging Het
Capn1 T C 19: 5,997,824 E403G probably damaging Het
Ccdc40 A G 11: 119,230,633 Q13R unknown Het
Ckap2l G T 2: 129,285,868 A130E possibly damaging Het
Creld1 C T 6: 113,492,869 R411C probably damaging Het
Dock9 A T 14: 121,658,787 S167T probably benign Het
Emc10 G T 7: 44,493,222 Q99K probably damaging Het
Fam26f G A 10: 34,126,403 T228I possibly damaging Het
Fryl T A 5: 73,085,356 I1287L probably benign Het
Gjc3 T A 5: 137,957,510 Y171F probably damaging Het
Glrp1 GTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTG 1: 88,503,320 probably benign Het
Gm597 C T 1: 28,778,505 V149M probably damaging Het
Golga4 T C 9: 118,555,796 V662A possibly damaging Het
Gpr33 A G 12: 52,023,398 V286A probably benign Het
Htr1d A G 4: 136,443,339 E293G probably damaging Het
Ints6 A G 14: 62,695,717 V847A possibly damaging Het
Iqsec3 A G 6: 121,413,562 C317R unknown Het
Mdn1 T A 4: 32,739,857 Y3704N probably damaging Het
Micall2 C A 5: 139,716,222 R422L probably damaging Het
Mndal T C 1: 173,860,192 D492G possibly damaging Het
Myom2 C T 8: 15,125,153 P1244L possibly damaging Het
Notch1 A G 2: 26,472,169 C1025R probably damaging Het
Nthl1 G A 17: 24,634,115 V98M probably damaging Het
Olfr1145 A T 2: 87,810,710 I297F probably damaging Het
Olfr1234 T C 2: 89,363,229 I67V probably benign Het
Pank3 A G 11: 35,776,359 D101G probably null Het
Phtf2 T C 5: 20,802,032 R178G possibly damaging Het
Pitrm1 T C 13: 6,568,786 probably null Het
Platr25 T C 13: 62,700,772 Y92C probably damaging Het
Plpp1 A T 13: 112,834,928 D43V probably damaging Het
Prg4 G A 1: 150,454,645 T759I unknown Het
Pros1 A G 16: 62,910,109 T321A probably benign Het
Rad50 G A 11: 53,678,939 Q882* probably null Het
Rasa3 A C 8: 13,581,322 F533V probably benign Het
Rgs18 T A 1: 144,754,027 I165F probably damaging Het
Rtl1 C T 12: 109,593,873 V511I possibly damaging Het
Sdc3 A G 4: 130,818,761 T144A unknown Het
Slc9a9 T C 9: 94,936,365 F271L probably benign Het
Snrpa1 G A 7: 66,070,633 G195R probably benign Het
Tcerg1 T A 18: 42,564,122 D759E probably damaging Het
Tecta A G 9: 42,373,110 L893P probably damaging Het
Tex101 T A 7: 24,668,532 Q167L possibly damaging Het
Tnrc6a C T 7: 123,184,215 R970* probably null Het
Trmt1l T C 1: 151,453,991 S562P probably damaging Het
Ubn1 A G 16: 5,073,399 E546G probably damaging Het
Usp38 T A 8: 80,985,717 Q563L probably benign Het
Vmn1r1 C T 1: 182,157,573 V176I probably benign Het
Vmn2r1 A G 3: 64,086,521 K96R probably benign Het
Vmn2r62 A G 7: 42,764,568 V817A probably benign Het
Wdfy3 A T 5: 101,851,353 C3066S possibly damaging Het
Yeats4 T C 10: 117,215,755 E199G possibly damaging Het
Zcchc11 T A 4: 108,557,357 W44R possibly damaging Het
Other mutations in Casp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00667:Casp12 APN 9 5352665 splice site probably null
IGL00717:Casp12 APN 9 5352702 missense probably damaging 1.00
IGL02326:Casp12 APN 9 5358317 missense possibly damaging 0.92
R0016:Casp12 UTSW 9 5352844 missense probably null 0.01
R0016:Casp12 UTSW 9 5352844 missense probably null 0.01
R0329:Casp12 UTSW 9 5345534 splice site probably benign
R0392:Casp12 UTSW 9 5348973 splice site probably benign
R0584:Casp12 UTSW 9 5352268 missense probably null 0.00
R0609:Casp12 UTSW 9 5346554 missense probably damaging 1.00
R1099:Casp12 UTSW 9 5352204 missense probably benign
R1951:Casp12 UTSW 9 5348959 critical splice donor site probably null
R2034:Casp12 UTSW 9 5346491 missense probably damaging 0.97
R4208:Casp12 UTSW 9 5346629 missense probably damaging 1.00
R4558:Casp12 UTSW 9 5352742 missense probably damaging 1.00
R4592:Casp12 UTSW 9 5352923 intron probably benign
R4597:Casp12 UTSW 9 5348941 missense possibly damaging 0.55
R4913:Casp12 UTSW 9 5358726 missense probably damaging 1.00
R4965:Casp12 UTSW 9 5352250 missense probably benign 0.00
R5495:Casp12 UTSW 9 5353797 missense possibly damaging 0.95
R5777:Casp12 UTSW 9 5354548 missense probably benign 0.01
R6641:Casp12 UTSW 9 5354612 missense probably benign
R7159:Casp12 UTSW 9 5353763 missense possibly damaging 0.89
R7320:Casp12 UTSW 9 5348897 critical splice acceptor site probably null
R7349:Casp12 UTSW 9 5345527 critical splice donor site probably null
R7636:Casp12 UTSW 9 5358344 missense probably benign 0.15
R7695:Casp12 UTSW 9 5353641 missense probably damaging 0.99
R7819:Casp12 UTSW 9 5352805 missense probably damaging 1.00
R8071:Casp12 UTSW 9 5346647 missense probably damaging 1.00
R8417:Casp12 UTSW 9 5352263 missense probably benign 0.00
R8503:Casp12 UTSW 9 5346739 splice site probably benign
R9573:Casp12 UTSW 9 5354629 missense probably benign
Z1088:Casp12 UTSW 9 5354582 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- CAGGCCCCAATATATGTTTTCAG -3'
(R):5'- TGTTGCTACCCAAAGAGAGTTTG -3'

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