Incidental Mutation 'R1988:Cyp1a2'
ID 222867
Institutional Source Beutler Lab
Gene Symbol Cyp1a2
Ensembl Gene ENSMUSG00000032310
Gene Name cytochrome P450, family 1, subfamily a, polypeptide 2
Synonyms aromatic compound inducible, CP12, P450-3
MMRRC Submission 040000-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.245) question?
Stock # R1988 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57584220-57590938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57589569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 82 (T82A)
Ref Sequence ENSEMBL: ENSMUSP00000034860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034860]
AlphaFold P00186
Predicted Effect possibly damaging
Transcript: ENSMUST00000034860
AA Change: T82A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: T82A

DomainStartEndE-ValueType
Pfam:p450 41 504 1.7e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215792
Meta Mutation Damage Score 0.1457 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 96% (79/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display resitance to some signs of TCDD induced toxicity but do not display any gross abnormalities in the abscence of treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,394 (GRCm39) D216V possibly damaging Het
2610021A01Rik C T 7: 41,276,081 (GRCm39) R595* probably null Het
Adgrl3 A G 5: 81,836,414 (GRCm39) D724G probably damaging Het
Akap6 T C 12: 53,187,578 (GRCm39) F1664S possibly damaging Het
Akt1 T C 12: 112,621,585 (GRCm39) I404V probably benign Het
Anxa13 T A 15: 58,205,344 (GRCm39) noncoding transcript Het
Atoh1 T C 6: 64,706,617 (GRCm39) V104A probably benign Het
Brwd1 T C 16: 95,822,437 (GRCm39) D1256G probably damaging Het
C9 ATTTT ATTT 15: 6,512,619 (GRCm39) probably null Het
Cd164 A G 10: 41,399,177 (GRCm39) T89A probably benign Het
Cep350 G C 1: 155,808,850 (GRCm39) N575K possibly damaging Het
Chrm5 A G 2: 112,310,597 (GRCm39) V173A probably damaging Het
Cnot1 A G 8: 96,468,572 (GRCm39) V1417A possibly damaging Het
Cntnap3 T C 13: 64,906,204 (GRCm39) T801A probably damaging Het
Cntnap5b A C 1: 99,999,865 (GRCm39) K208Q possibly damaging Het
Crx A T 7: 15,603,272 (GRCm39) V107D possibly damaging Het
Csrnp2 A G 15: 100,387,321 (GRCm39) F49S probably damaging Het
Ctbp1 A G 5: 33,408,248 (GRCm39) L228P possibly damaging Het
Ctdp1 A T 18: 80,492,616 (GRCm39) D626E possibly damaging Het
Dnah3 T A 7: 119,566,793 (GRCm39) T2478S possibly damaging Het
Dnah3 T G 7: 119,567,182 (GRCm39) D2348A probably damaging Het
Dnah5 T C 15: 28,343,737 (GRCm39) I2379T probably damaging Het
Dnah6 A G 6: 73,069,175 (GRCm39) I2504T probably damaging Het
Dnase1l2 A C 17: 24,660,625 (GRCm39) W138G probably damaging Het
Dop1b T A 16: 93,563,061 (GRCm39) I855N probably damaging Het
Dsc3 T A 18: 20,098,903 (GRCm39) N759Y possibly damaging Het
Dtx2 C T 5: 136,061,147 (GRCm39) R510* probably null Het
Fat4 G T 3: 38,941,264 (GRCm39) M52I probably benign Het
Fat4 G A 3: 39,050,239 (GRCm39) E4034K probably damaging Het
Fezf2 T C 14: 12,344,350 (GRCm38) K279R probably damaging Het
Fsip2 G T 2: 82,806,861 (GRCm39) W1060L possibly damaging Het
G6pc1 T A 11: 101,258,768 (GRCm39) I49N probably damaging Het
Gars1 A G 6: 55,054,757 (GRCm39) E688G probably null Het
Gdf11 T C 10: 128,721,111 (GRCm39) N361S probably benign Het
Gli3 A C 13: 15,900,965 (GRCm39) M1451L probably benign Het
Heatr3 T C 8: 88,876,945 (GRCm39) I329T probably benign Het
Herc3 T G 6: 58,861,960 (GRCm39) probably null Het
Hrnr A G 3: 93,239,911 (GRCm39) N3383S unknown Het
Igsf3 A T 3: 101,338,612 (GRCm39) I309F probably benign Het
Kif21b C T 1: 136,080,002 (GRCm39) R513W probably damaging Het
Kif7 G T 7: 79,348,989 (GRCm39) H1195Q probably benign Het
Lpcat4 T C 2: 112,072,887 (GRCm39) V182A possibly damaging Het
Map3k21 T A 8: 126,654,294 (GRCm39) I371N probably benign Het
Mns1 G A 9: 72,356,041 (GRCm39) probably null Het
Myo3a A G 2: 22,468,140 (GRCm39) T465A possibly damaging Het
Nlrc4 A T 17: 74,733,938 (GRCm39) S992T probably benign Het
Notch4 G A 17: 34,806,562 (GRCm39) G1833E possibly damaging Het
Or52ad1 T A 7: 102,995,316 (GRCm39) Y273F possibly damaging Het
Or52n2 T C 7: 104,542,110 (GRCm39) T242A probably damaging Het
Or5g29 G A 2: 85,420,985 (GRCm39) V34I probably benign Het
Or5p5 A T 7: 107,413,907 (GRCm39) I39L probably benign Het
Or8a1b A T 9: 37,622,993 (GRCm39) I194K possibly damaging Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Pik3cd T A 4: 149,747,660 (GRCm39) T28S probably damaging Het
Pkd1 G T 17: 24,795,566 (GRCm39) probably null Het
Plk4 A T 3: 40,760,252 (GRCm39) S383C possibly damaging Het
Plxna2 T C 1: 194,326,297 (GRCm39) L77P probably damaging Het
Ppm1f T C 16: 16,741,530 (GRCm39) S335P probably damaging Het
Prr16 C T 18: 51,436,349 (GRCm39) P276L probably damaging Het
Rilp A G 11: 75,401,759 (GRCm39) probably null Het
Rspry1 A G 8: 95,358,682 (GRCm39) probably null Het
Serpinb9b T C 13: 33,213,542 (GRCm39) V33A probably benign Het
Slc4a10 C A 2: 62,098,548 (GRCm39) Q561K probably damaging Het
Smyd5 T C 6: 85,415,118 (GRCm39) I42T possibly damaging Het
Stk17b T C 1: 53,800,241 (GRCm39) N246D probably damaging Het
Suco T C 1: 161,646,380 (GRCm39) probably null Het
Tecpr1 C T 5: 144,141,515 (GRCm39) V785M possibly damaging Het
Telo2 C T 17: 25,320,642 (GRCm39) V756I probably benign Het
Tgm1 C T 14: 55,943,034 (GRCm39) R602H probably benign Het
Timeless A G 10: 128,080,056 (GRCm39) T402A probably damaging Het
Tnfaip2 T A 12: 111,416,325 (GRCm39) probably null Het
Trgc3 C A 13: 19,445,164 (GRCm39) F37L probably damaging Het
Trim5 A G 7: 103,914,828 (GRCm39) S414P probably damaging Het
Txnip A G 3: 96,467,066 (GRCm39) T247A possibly damaging Het
Vmn1r174 A T 7: 23,454,050 (GRCm39) T239S probably damaging Het
Vmn1r231 T A 17: 21,110,212 (GRCm39) E234D probably damaging Het
Zranb3 A T 1: 127,887,480 (GRCm39) N982K probably benign Het
Other mutations in Cyp1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Cyp1a2 APN 9 57,589,352 (GRCm39) nonsense probably null
IGL01161:Cyp1a2 APN 9 57,587,176 (GRCm39) missense probably damaging 1.00
IGL01583:Cyp1a2 APN 9 57,589,655 (GRCm39) missense probably benign 0.31
IGL01726:Cyp1a2 APN 9 57,589,485 (GRCm39) missense possibly damaging 0.78
IGL01973:Cyp1a2 APN 9 57,589,678 (GRCm39) missense probably damaging 1.00
IGL02995:Cyp1a2 APN 9 57,584,511 (GRCm39) makesense probably null
IGL03349:Cyp1a2 APN 9 57,587,158 (GRCm39) missense possibly damaging 0.82
broadway UTSW 9 57,584,516 (GRCm39) nonsense probably null
PIT4515001:Cyp1a2 UTSW 9 57,589,242 (GRCm39) missense probably benign 0.14
R0025:Cyp1a2 UTSW 9 57,589,344 (GRCm39) missense probably damaging 1.00
R0389:Cyp1a2 UTSW 9 57,589,308 (GRCm39) missense probably benign 0.00
R0582:Cyp1a2 UTSW 9 57,587,529 (GRCm39) splice site probably benign
R0589:Cyp1a2 UTSW 9 57,586,345 (GRCm39) missense possibly damaging 0.95
R1239:Cyp1a2 UTSW 9 57,589,050 (GRCm39) missense probably benign 0.02
R2156:Cyp1a2 UTSW 9 57,589,433 (GRCm39) missense probably damaging 1.00
R2173:Cyp1a2 UTSW 9 57,584,798 (GRCm39) missense probably damaging 1.00
R2423:Cyp1a2 UTSW 9 57,587,232 (GRCm39) missense probably damaging 0.99
R3944:Cyp1a2 UTSW 9 57,589,151 (GRCm39) missense probably benign
R5225:Cyp1a2 UTSW 9 57,584,516 (GRCm39) nonsense probably null
R5419:Cyp1a2 UTSW 9 57,589,794 (GRCm39) missense probably benign 0.17
R5471:Cyp1a2 UTSW 9 57,586,303 (GRCm39) missense probably damaging 0.96
R5816:Cyp1a2 UTSW 9 57,588,336 (GRCm39) missense probably benign
R6017:Cyp1a2 UTSW 9 57,588,313 (GRCm39) missense probably damaging 0.98
R6825:Cyp1a2 UTSW 9 57,584,543 (GRCm39) missense probably benign 0.01
R6931:Cyp1a2 UTSW 9 57,589,439 (GRCm39) missense probably benign 0.02
R7058:Cyp1a2 UTSW 9 57,584,525 (GRCm39) missense probably damaging 0.99
R7079:Cyp1a2 UTSW 9 57,589,161 (GRCm39) missense probably benign
R7081:Cyp1a2 UTSW 9 57,586,272 (GRCm39) missense possibly damaging 0.52
R7400:Cyp1a2 UTSW 9 57,589,223 (GRCm39) missense probably benign 0.37
R7672:Cyp1a2 UTSW 9 57,589,620 (GRCm39) missense probably benign 0.05
R8097:Cyp1a2 UTSW 9 57,586,836 (GRCm39) splice site probably null
R8879:Cyp1a2 UTSW 9 57,589,168 (GRCm39) missense possibly damaging 0.55
R8926:Cyp1a2 UTSW 9 57,588,361 (GRCm39) missense probably benign 0.00
R9083:Cyp1a2 UTSW 9 57,587,572 (GRCm39) missense probably benign 0.01
R9206:Cyp1a2 UTSW 9 57,589,583 (GRCm39) missense probably damaging 1.00
R9208:Cyp1a2 UTSW 9 57,589,583 (GRCm39) missense probably damaging 1.00
R9784:Cyp1a2 UTSW 9 57,587,562 (GRCm39) missense probably benign 0.07
RF007:Cyp1a2 UTSW 9 57,589,253 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCCAAATAGCAAGAGGATGC -3'
(R):5'- TGGATGGTCAGAGCCTCAAG -3'

Sequencing Primer
(F):5'- CTATGGAGAAGCTCTTCAGGGCATC -3'
(R):5'- AGGACCCAGGTTCCCAAAGG -3'
Posted On 2014-08-25