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 phenobarbitol inducible, type a, Cyp2b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # IGL02281
Quality Score
Status
Chromosome 7
Chromosomal Location 25872836-25910086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25900529 bp (GRCm39)
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: 106,293,786 (GRCm39) E60G probably benign Het
Aldh3a1 T G 11: 61,107,949 (GRCm39) probably null Het
Bach2 T C 4: 32,562,513 (GRCm39) C327R possibly damaging Het
Bcam C T 7: 19,492,616 (GRCm39) G523D probably damaging Het
Bmpr2 T A 1: 59,907,503 (GRCm39) D865E probably damaging Het
Calm1 A T 12: 100,171,883 (GRCm39) I112F probably damaging Het
Ceacam3 T C 7: 16,895,656 (GRCm39) V542A probably benign Het
Clec5a A T 6: 40,561,336 (GRCm39) D36E probably benign Het
Clspn T A 4: 126,459,563 (GRCm39) C321S possibly damaging Het
Cmtr1 T A 17: 29,910,255 (GRCm39) D453E probably benign Het
Cntnap1 T A 11: 101,073,080 (GRCm39) D561E possibly damaging Het
Cul5 A G 9: 53,546,349 (GRCm39) V137A possibly damaging Het
Ddi2 A G 4: 141,419,730 (GRCm39) V340A probably benign Het
Etv4 T C 11: 101,664,545 (GRCm39) Y235C probably damaging Het
Gm3099 G A 14: 15,347,225 (GRCm39) probably benign Het
Gpsm1 T A 2: 26,229,638 (GRCm39) probably benign Het
Idh2 A G 7: 79,745,550 (GRCm39) probably null Het
Kit G A 5: 75,815,194 (GRCm39) E973K possibly damaging Het
Lilra5 A G 7: 4,241,782 (GRCm39) I194V probably benign Het
Lrp6 A C 6: 134,434,697 (GRCm39) N1335K probably benign Het
Map9 G A 3: 82,298,453 (GRCm39) E613K possibly damaging Het
Mroh2b G A 15: 4,981,745 (GRCm39) A1519T probably benign Het
Nefm A G 14: 68,361,913 (GRCm39) V117A probably damaging Het
Nr2c2 T A 6: 92,131,495 (GRCm39) S186T probably benign Het
Pde2a G A 7: 101,130,599 (GRCm39) A80T probably benign Het
Plcd1 A T 9: 118,903,841 (GRCm39) C334S probably benign Het
Pomt1 T C 2: 32,138,658 (GRCm39) S425P possibly damaging Het
Pspc1 G T 14: 56,960,635 (GRCm39) P497T probably benign Het
Rnf123 G A 9: 107,948,651 (GRCm39) P58L probably benign Het
Rph3a T C 5: 121,086,896 (GRCm39) T435A probably damaging Het
Rsbn1 T C 3: 103,869,777 (GRCm39) L746P probably damaging Het
Sfrp2 A G 3: 83,680,446 (GRCm39) E202G possibly damaging Het
Slc25a38 T C 9: 119,946,598 (GRCm39) S111P probably damaging Het
Tfcp2l1 T C 1: 118,597,110 (GRCm39) probably benign Het
Tonsl A T 15: 76,518,274 (GRCm39) L566H probably damaging Het
Tsc1 C A 2: 28,553,607 (GRCm39) D153E probably damaging Het
Vmn2r37 A T 7: 9,220,881 (GRCm39) H327Q possibly damaging Het
Other mutations in Cyp2b9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Cyp2b9 APN 7 25,897,930 (GRCm39) missense probably damaging 0.99
IGL01133:Cyp2b9 APN 7 25,909,660 (GRCm39) missense probably damaging 1.00
IGL01331:Cyp2b9 APN 7 25,887,140 (GRCm39) missense probably damaging 0.99
IGL02502:Cyp2b9 APN 7 25,887,239 (GRCm39) critical splice donor site probably null
IGL02713:Cyp2b9 APN 7 25,872,945 (GRCm39) missense probably benign 0.12
IGL03032:Cyp2b9 APN 7 25,898,025 (GRCm39) splice site probably benign
IGL03307:Cyp2b9 APN 7 25,898,476 (GRCm39) missense probably benign 0.00
R0010:Cyp2b9 UTSW 7 25,886,178 (GRCm39) splice site probably benign
R0025:Cyp2b9 UTSW 7 25,900,238 (GRCm39) missense probably benign 0.09
R0040:Cyp2b9 UTSW 7 25,872,899 (GRCm39) missense possibly damaging 0.68
R0184:Cyp2b9 UTSW 7 25,886,432 (GRCm39) nonsense probably null
R0370:Cyp2b9 UTSW 7 25,909,531 (GRCm39) missense probably damaging 1.00
R1595:Cyp2b9 UTSW 7 25,900,332 (GRCm39) missense possibly damaging 0.72
R1751:Cyp2b9 UTSW 7 25,886,100 (GRCm39) missense probably benign 0.05
R1835:Cyp2b9 UTSW 7 25,900,208 (GRCm39) missense probably benign
R1879:Cyp2b9 UTSW 7 25,897,994 (GRCm39) missense probably damaging 0.99
R2256:Cyp2b9 UTSW 7 25,873,030 (GRCm39) critical splice donor site probably null
R2257:Cyp2b9 UTSW 7 25,873,030 (GRCm39) critical splice donor site probably null
R2418:Cyp2b9 UTSW 7 25,886,132 (GRCm39) missense probably benign 0.00
R3420:Cyp2b9 UTSW 7 25,909,528 (GRCm39) missense probably damaging 1.00
R4088:Cyp2b9 UTSW 7 25,872,881 (GRCm39) missense probably damaging 0.99
R4412:Cyp2b9 UTSW 7 25,897,868 (GRCm39) missense probably damaging 1.00
R4495:Cyp2b9 UTSW 7 25,900,180 (GRCm39) missense probably benign 0.00
R4615:Cyp2b9 UTSW 7 25,900,550 (GRCm39) missense probably damaging 1.00
R5375:Cyp2b9 UTSW 7 25,887,167 (GRCm39) missense probably damaging 1.00
R5426:Cyp2b9 UTSW 7 25,887,080 (GRCm39) missense probably benign
R5862:Cyp2b9 UTSW 7 25,887,232 (GRCm39) missense probably benign 0.01
R6237:Cyp2b9 UTSW 7 25,872,999 (GRCm39) missense probably benign 0.02
R6445:Cyp2b9 UTSW 7 25,886,412 (GRCm39) missense probably benign 0.13
R6992:Cyp2b9 UTSW 7 25,900,564 (GRCm39) missense probably benign 0.00
R7515:Cyp2b9 UTSW 7 25,898,596 (GRCm39) missense probably damaging 1.00
R7654:Cyp2b9 UTSW 7 25,886,367 (GRCm39) missense possibly damaging 0.72
R7816:Cyp2b9 UTSW 7 25,900,517 (GRCm39) missense probably benign 0.01
R7850:Cyp2b9 UTSW 7 25,886,111 (GRCm39) nonsense probably null
R8734:Cyp2b9 UTSW 7 25,898,035 (GRCm39) intron probably benign
R8790:Cyp2b9 UTSW 7 25,898,167 (GRCm39) intron probably benign
R8839:Cyp2b9 UTSW 7 25,900,185 (GRCm39) missense probably damaging 0.96
R9209:Cyp2b9 UTSW 7 25,873,004 (GRCm39) missense possibly damaging 0.52
R9723:Cyp2b9 UTSW 7 25,909,596 (GRCm39) nonsense probably null
R9787:Cyp2b9 UTSW 7 25,900,259 (GRCm39) missense probably benign 0.04
Z1177:Cyp2b9 UTSW 7 25,900,588 (GRCm39) missense probably benign 0.31
Posted On 2015-04-16