Incidental Mutation 'IGL02557:Cyp2b10'
ID 298325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2b10
Ensembl Gene ENSMUSG00000030483
Gene Name cytochrome P450, family 2, subfamily b, polypeptide 10
Synonyms phenobarbitol inducible, type b, p16, Cyp2b20, Cyp2b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL02557
Quality Score
Status
Chromosome 7
Chromosomal Location 25897620-25926624 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25914881 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 260 (V260D)
Ref Sequence ENSEMBL: ENSMUSP00000072264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005477] [ENSMUST00000072438]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005477
AA Change: V260D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005477
Gene: ENSMUSG00000030483
AA Change: V260D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:p450 31 497 4.1e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072438
AA Change: V260D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072264
Gene: ENSMUSG00000030483
AA Change: V260D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:p450 31 488 2e-152 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144140
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP2B6, 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. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,742,707 P222L probably benign Het
AI464131 C T 4: 41,497,900 V577M possibly damaging Het
Alg12 T A 15: 88,816,207 K9* probably null Het
Arhgap20 T C 9: 51,821,273 V119A probably damaging Het
Arhgap45 T C 10: 80,021,638 Y178H probably damaging Het
Atad2 A T 15: 58,122,597 S243T probably benign Het
Atp13a5 A C 16: 29,248,182 F1013V probably benign Het
Atp1a2 T G 1: 172,278,651 T865P possibly damaging Het
Bcas2 T C 3: 103,171,867 probably benign Het
Ccnk T C 12: 108,195,726 S297P unknown Het
Cdk5 A T 5: 24,419,653 S215T probably benign Het
Ciita T A 16: 10,512,015 L798Q probably damaging Het
Clcn2 A G 16: 20,708,464 S584P probably damaging Het
Cntn6 A G 6: 104,774,535 Y384C probably damaging Het
Dsel A T 1: 111,862,570 H78Q probably damaging Het
Eml3 T C 19: 8,931,381 probably benign Het
Fcgr2b C A 1: 170,963,322 probably null Het
Fryl A T 5: 73,098,393 L765Q probably damaging Het
Gas2 T A 7: 51,887,933 M2K probably damaging Het
Gm13941 T C 2: 111,101,156 K44E unknown Het
Gm42878 A G 5: 121,527,131 S205P possibly damaging Het
Hcn3 A T 3: 89,149,871 S473R probably damaging Het
Hnrnpr A G 4: 136,319,506 E65G probably damaging Het
Ints1 A T 5: 139,771,637 V375E probably damaging Het
Lama5 A T 2: 180,190,932 C1642* probably null Het
Lsr T G 7: 30,958,494 E347A possibly damaging Het
Mapre2 C A 18: 23,832,957 T33K probably damaging Het
Myo3b T A 2: 70,255,319 F772I probably benign Het
Nbas T C 12: 13,361,028 V891A probably damaging Het
Neurl4 A T 11: 69,906,335 I583F probably damaging Het
Nsd1 T C 13: 55,312,448 S2163P probably damaging Het
Nup210l T C 3: 90,124,230 Y288H probably damaging Het
Olfr1212 A G 2: 88,958,681 I72V probably benign Het
Olfr1329 T C 4: 118,917,192 T92A probably benign Het
Pak1 A G 7: 97,871,587 E151G probably benign Het
Phtf1 A G 3: 103,998,765 N588D probably damaging Het
Prom2 T C 2: 127,529,471 T756A possibly damaging Het
Ptgfrn C T 3: 101,060,636 probably null Het
Seh1l T C 18: 67,789,413 S279P probably benign Het
Sema3f A T 9: 107,687,212 M35K probably damaging Het
Spesp1 T C 9: 62,273,134 E164G possibly damaging Het
Sprr3 T C 3: 92,457,166 T124A possibly damaging Het
Trim24 A C 6: 37,965,499 probably null Het
Unc79 A G 12: 103,182,159 probably benign Het
Vmn2r77 T A 7: 86,795,134 probably benign Het
Other mutations in Cyp2b10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02270:Cyp2b10 APN 7 25913937 missense probably damaging 0.99
IGL02341:Cyp2b10 APN 7 25911242 missense probably benign 0.33
R0038:Cyp2b10 UTSW 7 25914862 missense probably benign 0.21
R0393:Cyp2b10 UTSW 7 25914934 splice site probably benign
R0569:Cyp2b10 UTSW 7 25897735 missense probably damaging 1.00
R1035:Cyp2b10 UTSW 7 25917048 missense probably benign 0.34
R1262:Cyp2b10 UTSW 7 25915411 missense probably benign 0.16
R1282:Cyp2b10 UTSW 7 25926080 missense probably damaging 1.00
R1452:Cyp2b10 UTSW 7 25925388 intron probably benign
R2163:Cyp2b10 UTSW 7 25925385 intron probably benign
R4520:Cyp2b10 UTSW 7 25911557 missense probably benign 0.05
R4831:Cyp2b10 UTSW 7 25915496 nonsense probably null
R5201:Cyp2b10 UTSW 7 25916994 missense probably damaging 1.00
R5330:Cyp2b10 UTSW 7 25913989 nonsense probably null
R5586:Cyp2b10 UTSW 7 25917012 missense probably damaging 1.00
R5964:Cyp2b10 UTSW 7 25926223 missense probably benign 0.28
R6043:Cyp2b10 UTSW 7 25917339 missense probably damaging 0.99
R6470:Cyp2b10 UTSW 7 25911656 missense possibly damaging 0.57
R6991:Cyp2b10 UTSW 7 25917355 missense probably benign 0.05
R7567:Cyp2b10 UTSW 7 25914779 missense probably damaging 1.00
R7847:Cyp2b10 UTSW 7 25897760 missense possibly damaging 0.52
R8131:Cyp2b10 UTSW 7 25914817 nonsense probably null
R8486:Cyp2b10 UTSW 7 25914881 missense probably benign
R8988:Cyp2b10 UTSW 7 25926245 missense probably damaging 1.00
R8992:Cyp2b10 UTSW 7 25925390 missense unknown
R9286:Cyp2b10 UTSW 7 25916966 missense probably damaging 1.00
Posted On 2015-04-16