Incidental Mutation 'IGL02191:Cyp2a12'
ID 283880
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2a12
Ensembl Gene ENSMUSG00000060407
Gene Name cytochrome P450, family 2, subfamily a, polypeptide 12
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL02191
Quality Score
Status
Chromosome 7
Chromosomal Location 26728515-26736243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26736036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 482 (I482V)
Ref Sequence ENSEMBL: ENSMUSP00000074990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075552]
AlphaFold P56593
Predicted Effect probably benign
Transcript: ENSMUST00000075552
AA Change: I482V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: I482V

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,220,883 (GRCm39) I642V probably benign Het
Adam5 G A 8: 25,302,439 (GRCm39) R185* probably null Het
C2 T C 17: 35,085,539 (GRCm39) I122V probably damaging Het
Camsap1 A G 2: 25,819,892 (GRCm39) I1531T probably damaging Het
Celsr1 T C 15: 85,863,205 (GRCm39) T1276A possibly damaging Het
Cnot7 A T 8: 40,963,068 (GRCm39) N35K probably benign Het
Cyp3a57 A G 5: 145,302,495 (GRCm39) E97G probably damaging Het
Cyp51 C A 5: 4,150,147 (GRCm39) R192I probably benign Het
Ddx59 T C 1: 136,344,896 (GRCm39) L189P probably damaging Het
Dnah6 A G 6: 72,994,780 (GRCm39) I4127T probably benign Het
Dock3 C T 9: 106,815,340 (GRCm39) V1217I probably benign Het
Ergic2 T C 6: 148,106,319 (GRCm39) D57G probably null Het
Flvcr2 A T 12: 85,832,966 (GRCm39) K329* probably null Het
Foxp1 T C 6: 98,922,561 (GRCm39) S327G probably damaging Het
Gen1 A C 12: 11,292,297 (GRCm39) H562Q probably benign Het
Gjc2 A G 11: 59,068,386 (GRCm39) V32A probably damaging Het
Grk4 C T 5: 34,912,533 (GRCm39) H574Y probably benign Het
Kif15 T A 9: 122,804,744 (GRCm39) C93S probably damaging Het
Lrtm1 A C 14: 28,743,906 (GRCm39) I125L probably benign Het
Mrgprb8 A G 7: 48,038,527 (GRCm39) Y66C probably damaging Het
Pfn1 G A 11: 70,545,209 (GRCm39) A33V probably damaging Het
Scnn1b A C 7: 121,516,736 (GRCm39) K492Q probably damaging Het
Slc22a29 G A 19: 8,196,045 (GRCm39) probably benign Het
Spocd1 A G 4: 129,847,380 (GRCm39) D523G probably damaging Het
Tmem144 A T 3: 79,734,159 (GRCm39) D181E possibly damaging Het
Tmem220 G A 11: 66,921,933 (GRCm39) C101Y probably damaging Het
Tmpo A G 10: 90,997,741 (GRCm39) V682A probably benign Het
Wdr93 A G 7: 79,398,968 (GRCm39) K34R probably damaging Het
Zdhhc16 C A 19: 41,926,130 (GRCm39) C8* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Cyp2a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2171:Cyp2a12 UTSW 7 26,729,057 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16