Incidental Mutation 'R2171:Cyp2a12'
ID 237483
Institutional Source Beutler Lab
Gene Symbol Cyp2a12
Ensembl Gene ENSMUSG00000060407
Gene Name cytochrome P450, family 2, subfamily a, polypeptide 12
Synonyms
MMRRC Submission 040173-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R2171 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 26728515-26736243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26729057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 83 (Y83C)
Ref Sequence ENSEMBL: ENSMUSP00000074990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075552]
AlphaFold P56593
Predicted Effect probably damaging
Transcript: ENSMUST00000075552
AA Change: Y83C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: Y83C

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:p450 33 489 7.3e-153 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207016
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A G 13: 23,606,387 (GRCm39) L189P probably damaging Het
Adgrl3 C A 5: 81,660,362 (GRCm39) S377* probably null Het
Adgrv1 A G 13: 81,419,037 (GRCm39) V5986A probably damaging Het
Arv1 T G 8: 125,455,094 (GRCm39) C102W probably damaging Het
Asb18 T C 1: 89,896,419 (GRCm39) H207R probably benign Het
Bach2 T C 4: 32,501,662 (GRCm39) V13A probably damaging Het
Bccip T C 7: 133,320,843 (GRCm39) S206P probably benign Het
Cdhr4 T C 9: 107,870,117 (GRCm39) S41P probably benign Het
Chd7 A G 4: 8,752,424 (GRCm39) Y307C probably damaging Het
Clec4f A T 6: 83,629,846 (GRCm39) S237R possibly damaging Het
Cntnap5a A G 1: 116,116,132 (GRCm39) D538G possibly damaging Het
Col9a2 T A 4: 120,902,198 (GRCm39) C173* probably null Het
Ctr9 T A 7: 110,646,117 (GRCm39) M703K possibly damaging Het
Eef1akmt3 A C 10: 126,868,843 (GRCm39) D210E probably benign Het
Erbin A G 13: 103,971,466 (GRCm39) F717L probably benign Het
Gtf3a A G 5: 146,892,272 (GRCm39) N341S probably benign Het
Hltf T C 3: 20,113,245 (GRCm39) V6A probably damaging Het
Itga6 T A 2: 71,650,358 (GRCm39) Y135N probably damaging Het
Krt73 T C 15: 101,709,345 (GRCm39) Q154R possibly damaging Het
Lce1a1 C T 3: 92,554,048 (GRCm39) C142Y unknown Het
Lcorl A T 5: 45,904,493 (GRCm39) I112N probably damaging Het
Ltbp1 C T 17: 75,598,312 (GRCm39) H916Y probably damaging Het
Lypla2 T C 4: 135,697,915 (GRCm39) probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mmp1a T A 9: 7,475,357 (GRCm39) D375E probably damaging Het
Nlrp14 T G 7: 106,781,709 (GRCm39) L302R probably damaging Het
Npy2r T G 3: 82,447,708 (GRCm39) T243P possibly damaging Het
Or11h4 A T 14: 50,973,876 (GRCm39) S248T probably benign Het
Or51k2 T C 7: 103,595,992 (GRCm39) V73A probably damaging Het
Paqr9 A T 9: 95,442,931 (GRCm39) H307L probably damaging Het
Phc3 T C 3: 31,005,078 (GRCm39) T172A probably damaging Het
Pigs A G 11: 78,219,638 (GRCm39) T39A probably damaging Het
Pik3c2g C T 6: 139,801,012 (GRCm39) Q386* probably null Het
Pira2 T C 7: 3,847,417 (GRCm39) S91G probably benign Het
Plxna2 T A 1: 194,482,925 (GRCm39) N1539K probably damaging Het
Poc5 C T 13: 96,547,257 (GRCm39) H507Y probably damaging Het
Pou2f1 A T 1: 165,707,925 (GRCm39) probably benign Het
Pthlh T G 6: 147,158,694 (GRCm39) K89Q probably damaging Het
Rims4 A T 2: 163,706,046 (GRCm39) probably null Het
Rnf138 A G 18: 21,159,143 (GRCm39) N188D probably damaging Het
Rreb1 A G 13: 38,114,822 (GRCm39) D727G probably benign Het
Sc5d T G 9: 42,166,682 (GRCm39) K286Q probably benign Het
Slc10a5 C T 3: 10,400,342 (GRCm39) G106D possibly damaging Het
Smg6 A T 11: 74,929,472 (GRCm39) Q967L probably damaging Het
Spty2d1 C T 7: 46,644,361 (GRCm39) R636H probably damaging Het
Srms A T 2: 180,850,573 (GRCm39) Y195* probably null Het
Susd4 A G 1: 182,719,759 (GRCm39) D458G probably benign Het
Tecta T C 9: 42,270,220 (GRCm39) R1363G probably damaging Het
Thbs1 G A 2: 117,953,060 (GRCm39) G890D probably damaging Het
Tpp2 T C 1: 43,996,606 (GRCm39) V317A probably benign Het
Ttpa T C 4: 20,021,357 (GRCm39) V175A probably damaging Het
Vps13b G T 15: 35,887,343 (GRCm39) D3251Y probably benign Het
Vps54 A G 11: 21,248,810 (GRCm39) D441G probably benign Het
Zfp738 A T 13: 67,819,096 (GRCm39) Y298* probably null Het
Zfp804a G A 2: 82,087,527 (GRCm39) C452Y possibly damaging Het
Zxdc A G 6: 90,359,461 (GRCm39) K698E possibly damaging Het
Other mutations in Cyp2a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02191:Cyp2a12 APN 7 26,736,036 (GRCm39) missense probably benign 0.00
IGL02306:Cyp2a12 APN 7 26,732,008 (GRCm39) missense probably damaging 1.00
IGL02667:Cyp2a12 APN 7 26,730,583 (GRCm39) missense probably damaging 1.00
IGL02943:Cyp2a12 APN 7 26,731,967 (GRCm39) missense probably benign 0.07
IGL03025:Cyp2a12 APN 7 26,730,631 (GRCm39) missense probably benign 0.00
IGL03230:Cyp2a12 APN 7 26,729,017 (GRCm39) missense possibly damaging 0.48
PIT4243001:Cyp2a12 UTSW 7 26,734,198 (GRCm39) missense probably benign 0.00
PIT4618001:Cyp2a12 UTSW 7 26,734,198 (GRCm39) missense probably benign 0.00
R0655:Cyp2a12 UTSW 7 26,736,046 (GRCm39) missense probably benign 0.15
R0659:Cyp2a12 UTSW 7 26,733,563 (GRCm39) missense probably damaging 1.00
R0743:Cyp2a12 UTSW 7 26,731,967 (GRCm39) missense probably benign 0.07
R0884:Cyp2a12 UTSW 7 26,731,967 (GRCm39) missense probably benign 0.07
R2118:Cyp2a12 UTSW 7 26,736,071 (GRCm39) makesense probably null
R2119:Cyp2a12 UTSW 7 26,736,071 (GRCm39) makesense probably null
R2120:Cyp2a12 UTSW 7 26,736,071 (GRCm39) makesense probably null
R2121:Cyp2a12 UTSW 7 26,736,071 (GRCm39) makesense probably null
R2122:Cyp2a12 UTSW 7 26,736,071 (GRCm39) makesense probably null
R2124:Cyp2a12 UTSW 7 26,736,071 (GRCm39) makesense probably null
R2144:Cyp2a12 UTSW 7 26,734,194 (GRCm39) missense possibly damaging 0.95
R2153:Cyp2a12 UTSW 7 26,732,042 (GRCm39) missense probably benign 0.01
R2182:Cyp2a12 UTSW 7 26,730,571 (GRCm39) missense probably damaging 1.00
R2297:Cyp2a12 UTSW 7 26,734,057 (GRCm39) missense possibly damaging 0.92
R4392:Cyp2a12 UTSW 7 26,728,700 (GRCm39) missense probably damaging 0.98
R4900:Cyp2a12 UTSW 7 26,730,640 (GRCm39) nonsense probably null
R4960:Cyp2a12 UTSW 7 26,733,575 (GRCm39) missense probably benign 0.11
R5111:Cyp2a12 UTSW 7 26,736,046 (GRCm39) missense possibly damaging 0.89
R5143:Cyp2a12 UTSW 7 26,736,036 (GRCm39) missense probably benign 0.00
R5223:Cyp2a12 UTSW 7 26,735,888 (GRCm39) critical splice acceptor site probably null
R5268:Cyp2a12 UTSW 7 26,730,643 (GRCm39) missense probably benign 0.00
R5493:Cyp2a12 UTSW 7 26,728,550 (GRCm39) missense unknown
R5524:Cyp2a12 UTSW 7 26,730,656 (GRCm39) missense probably benign 0.00
R5806:Cyp2a12 UTSW 7 26,728,504 (GRCm39) splice site probably null
R6320:Cyp2a12 UTSW 7 26,730,577 (GRCm39) missense possibly damaging 0.75
R6823:Cyp2a12 UTSW 7 26,733,581 (GRCm39) missense possibly damaging 0.77
R7958:Cyp2a12 UTSW 7 26,728,677 (GRCm39) missense probably benign 0.13
R8093:Cyp2a12 UTSW 7 26,736,054 (GRCm39) missense probably damaging 0.96
R8191:Cyp2a12 UTSW 7 26,730,529 (GRCm39) missense probably benign 0.00
R8259:Cyp2a12 UTSW 7 26,732,083 (GRCm39) nonsense probably null
R9083:Cyp2a12 UTSW 7 26,735,944 (GRCm39) missense probably damaging 0.99
R9084:Cyp2a12 UTSW 7 26,735,944 (GRCm39) missense probably damaging 0.99
R9085:Cyp2a12 UTSW 7 26,735,944 (GRCm39) missense probably damaging 0.99
R9086:Cyp2a12 UTSW 7 26,735,944 (GRCm39) missense probably damaging 0.99
RF021:Cyp2a12 UTSW 7 26,734,785 (GRCm39) missense possibly damaging 0.73
Z1088:Cyp2a12 UTSW 7 26,734,845 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- CTGTGGAGCTATTTCAAGTCTTTGGT -3'
(R):5'- CCCCACTAAAGCAAGGACTG -3'

Sequencing Primer
(F):5'- AGCTATTTCAAGTCTTTGGTTTGTTG -3'
(R):5'- AGAATTCTTGGGACTCCTCAGAG -3'
Posted On 2014-10-02