Incidental Mutation 'IGL02281:Cyp2b9'
ID 289824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2b9
Ensembl Gene ENSMUSG00000040660
Gene Name cytochrome P450, family 2, subfamily b, polypeptide 9
Synonyms 16\alphaoh-a, phenobarbitol inducible, type a, Cyp2b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL02281
Quality Score
Status
Chromosome 7
Chromosomal Location 26173411-26210661 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26201104 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 389 (Y389C)
Ref Sequence ENSEMBL: ENSMUSP00000080846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082214]
AlphaFold P12790
Predicted Effect probably damaging
Transcript: ENSMUST00000082214
AA Change: Y389C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: Y389C

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:p450 31 488 1.7e-146 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 105,567,154 E60G probably benign Het
Aldh3a1 T G 11: 61,217,123 probably null Het
Bach2 T C 4: 32,562,513 C327R possibly damaging Het
Bcam C T 7: 19,758,691 G523D probably damaging Het
Bmpr2 T A 1: 59,868,344 D865E probably damaging Het
Calm1 A T 12: 100,205,624 I112F probably damaging Het
Ceacam3 T C 7: 17,161,731 V542A probably benign Het
Clec5a A T 6: 40,584,402 D36E probably benign Het
Clspn T A 4: 126,565,770 C321S possibly damaging Het
Cmtr1 T A 17: 29,691,281 D453E probably benign Het
Cntnap1 T A 11: 101,182,254 D561E possibly damaging Het
Cul5 A G 9: 53,635,049 V137A possibly damaging Het
Ddi2 A G 4: 141,692,419 V340A probably benign Het
Etv4 T C 11: 101,773,719 Y235C probably damaging Het
Gm3099 G A 14: 4,001,257 probably benign Het
Gpsm1 T A 2: 26,339,626 probably benign Het
Idh2 A G 7: 80,095,802 probably null Het
Kit G A 5: 75,654,534 E973K possibly damaging Het
Lilra5 A G 7: 4,238,783 I194V probably benign Het
Lrp6 A C 6: 134,457,734 N1335K probably benign Het
Map9 G A 3: 82,391,146 E613K possibly damaging Het
Mroh2b G A 15: 4,952,263 A1519T probably benign Het
Nefm A G 14: 68,124,464 V117A probably damaging Het
Nr2c2 T A 6: 92,154,514 S186T probably benign Het
Pde2a G A 7: 101,481,392 A80T probably benign Het
Plcd1 A T 9: 119,074,773 C334S probably benign Het
Pomt1 T C 2: 32,248,646 S425P possibly damaging Het
Pspc1 G T 14: 56,723,178 P497T probably benign Het
Rnf123 G A 9: 108,071,452 P58L probably benign Het
Rph3a T C 5: 120,948,833 T435A probably damaging Het
Rsbn1 T C 3: 103,962,461 L746P probably damaging Het
Sfrp2 A G 3: 83,773,139 E202G possibly damaging Het
Slc25a38 T C 9: 120,117,532 S111P probably damaging Het
Tfcp2l1 T C 1: 118,669,380 probably benign Het
Tonsl A T 15: 76,634,074 L566H probably damaging Het
Tsc1 C A 2: 28,663,595 D153E probably damaging Het
Vmn2r37 A T 7: 9,217,882 H327Q possibly damaging Het
Other mutations in Cyp2b9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Cyp2b9 APN 7 26198505 missense probably damaging 0.99
IGL01133:Cyp2b9 APN 7 26210235 missense probably damaging 1.00
IGL01331:Cyp2b9 APN 7 26187715 missense probably damaging 0.99
IGL02502:Cyp2b9 APN 7 26187814 critical splice donor site probably null
IGL02713:Cyp2b9 APN 7 26173520 missense probably benign 0.12
IGL03032:Cyp2b9 APN 7 26198600 splice site probably benign
IGL03307:Cyp2b9 APN 7 26199051 missense probably benign 0.00
R0010:Cyp2b9 UTSW 7 26186753 splice site probably benign
R0025:Cyp2b9 UTSW 7 26200813 missense probably benign 0.09
R0040:Cyp2b9 UTSW 7 26173474 missense possibly damaging 0.68
R0184:Cyp2b9 UTSW 7 26187007 nonsense probably null
R0370:Cyp2b9 UTSW 7 26210106 missense probably damaging 1.00
R1595:Cyp2b9 UTSW 7 26200907 missense possibly damaging 0.72
R1751:Cyp2b9 UTSW 7 26186675 missense probably benign 0.05
R1835:Cyp2b9 UTSW 7 26200783 missense probably benign
R1879:Cyp2b9 UTSW 7 26198569 missense probably damaging 0.99
R2256:Cyp2b9 UTSW 7 26173605 critical splice donor site probably null
R2257:Cyp2b9 UTSW 7 26173605 critical splice donor site probably null
R2418:Cyp2b9 UTSW 7 26186707 missense probably benign 0.00
R3420:Cyp2b9 UTSW 7 26210103 missense probably damaging 1.00
R4088:Cyp2b9 UTSW 7 26173456 missense probably damaging 0.99
R4412:Cyp2b9 UTSW 7 26198443 missense probably damaging 1.00
R4495:Cyp2b9 UTSW 7 26200755 missense probably benign 0.00
R4615:Cyp2b9 UTSW 7 26201125 missense probably damaging 1.00
R5375:Cyp2b9 UTSW 7 26187742 missense probably damaging 1.00
R5426:Cyp2b9 UTSW 7 26187655 missense probably benign
R5862:Cyp2b9 UTSW 7 26187807 missense probably benign 0.01
R6237:Cyp2b9 UTSW 7 26173574 missense probably benign 0.02
R6445:Cyp2b9 UTSW 7 26186987 missense probably benign 0.13
R6992:Cyp2b9 UTSW 7 26201139 missense probably benign 0.00
R7515:Cyp2b9 UTSW 7 26199171 missense probably damaging 1.00
R7654:Cyp2b9 UTSW 7 26186942 missense possibly damaging 0.72
R7816:Cyp2b9 UTSW 7 26201092 missense probably benign 0.01
R7850:Cyp2b9 UTSW 7 26186686 nonsense probably null
R8734:Cyp2b9 UTSW 7 26198610 intron probably benign
R8790:Cyp2b9 UTSW 7 26198742 intron probably benign
R8839:Cyp2b9 UTSW 7 26200760 missense probably damaging 0.96
R9209:Cyp2b9 UTSW 7 26173579 missense possibly damaging 0.52
R9723:Cyp2b9 UTSW 7 26210171 nonsense probably null
R9787:Cyp2b9 UTSW 7 26200834 missense probably benign 0.04
Z1177:Cyp2b9 UTSW 7 26201163 missense probably benign 0.31
Posted On 2015-04-16