Incidental Mutation 'R1282:Cyp2b10'
ID 151058
Institutional Source Beutler Lab
Gene Symbol Cyp2b10
Ensembl Gene ENSMUSG00000030483
Gene Name cytochrome P450, family 2, subfamily b, polypeptide 10
Synonyms p16, Cyp2b, Cyp2b20, phenobarbitol inducible, type b
MMRRC Submission 039348-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R1282 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 25597083-25626049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25625505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 436 (C436Y)
Ref Sequence ENSEMBL: ENSMUSP00000072264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005477] [ENSMUST00000072438]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000005477
AA Change: C445Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005477
Gene: ENSMUSG00000030483
AA Change: C445Y

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:p450 31 497 4.1e-149 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000072438
AA Change: C436Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072264
Gene: ENSMUSG00000030483
AA Change: C436Y

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:p450 31 488 2e-152 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd T C 1: 127,666,297 (GRCm39) Y23H probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Atp2a2 G T 5: 122,629,817 (GRCm39) T84K probably benign Het
Cfap65 T A 1: 74,964,263 (GRCm39) T562S probably benign Het
Dnajc7 T C 11: 100,475,467 (GRCm39) D381G probably damaging Het
Dnase1l3 T C 14: 7,983,117 (GRCm38) D129G probably benign Het
Espl1 A G 15: 102,223,826 (GRCm39) T1126A probably benign Het
Exoc3 T C 13: 74,330,411 (GRCm39) N506S probably benign Het
Fastkd3 C A 13: 68,732,676 (GRCm39) N332K possibly damaging Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Foxp4 G A 17: 48,186,568 (GRCm39) P404S unknown Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gm12789 T A 4: 101,845,487 (GRCm39) W59R probably damaging Het
Greb1l T A 18: 10,547,289 (GRCm39) N1502K probably benign Het
H2-K2 A C 17: 34,218,421 (GRCm39) I165S probably damaging Het
Ipo9 A G 1: 135,330,030 (GRCm39) I470T possibly damaging Het
Kcnu1 A T 8: 26,395,985 (GRCm39) I657F probably benign Het
Lrp1b A T 2: 40,750,773 (GRCm39) N2930K probably damaging Het
Or56a5 T A 7: 104,792,859 (GRCm39) I220F probably benign Het
Prag1 T C 8: 36,567,068 (GRCm39) V73A probably damaging Het
Prrc2b T C 2: 32,113,456 (GRCm39) I1963T probably damaging Het
Rep15 C T 6: 146,934,727 (GRCm39) R189* probably null Het
Resf1 C T 6: 149,230,670 (GRCm39) Q1239* probably null Het
Rtp3 T C 9: 110,815,988 (GRCm39) K188E probably benign Het
Scd2 T C 19: 44,283,620 (GRCm39) L101P probably damaging Het
Scn7a A T 2: 66,531,193 (GRCm39) H561Q probably damaging Het
Sfr1 T C 19: 47,721,407 (GRCm39) S118P probably damaging Het
Slf1 C T 13: 77,191,959 (GRCm39) M958I probably damaging Het
Snrk G T 9: 121,989,586 (GRCm39) R310L possibly damaging Het
Snx11 T C 11: 96,663,987 (GRCm39) Y35C probably damaging Het
Supt6 T C 11: 78,119,594 (GRCm39) T404A possibly damaging Het
Svep1 C A 4: 58,100,032 (GRCm39) L1337F possibly damaging Het
Traf3ip2 C T 10: 39,502,401 (GRCm39) T183M probably damaging Het
Vmn2r28 A T 7: 5,484,301 (GRCm39) M633K probably damaging Het
Vmn2r67 A G 7: 84,785,932 (GRCm39) V691A probably benign Het
Other mutations in Cyp2b10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02270:Cyp2b10 APN 7 25,613,362 (GRCm39) missense probably damaging 0.99
IGL02341:Cyp2b10 APN 7 25,610,667 (GRCm39) missense probably benign 0.33
IGL02557:Cyp2b10 APN 7 25,614,306 (GRCm39) missense probably benign
R0038:Cyp2b10 UTSW 7 25,614,287 (GRCm39) missense probably benign 0.21
R0393:Cyp2b10 UTSW 7 25,614,359 (GRCm39) splice site probably benign
R0569:Cyp2b10 UTSW 7 25,597,160 (GRCm39) missense probably damaging 1.00
R1035:Cyp2b10 UTSW 7 25,616,473 (GRCm39) missense probably benign 0.34
R1262:Cyp2b10 UTSW 7 25,614,836 (GRCm39) missense probably benign 0.16
R1452:Cyp2b10 UTSW 7 25,624,813 (GRCm39) intron probably benign
R2163:Cyp2b10 UTSW 7 25,624,810 (GRCm39) intron probably benign
R4520:Cyp2b10 UTSW 7 25,610,982 (GRCm39) missense probably benign 0.05
R4831:Cyp2b10 UTSW 7 25,614,921 (GRCm39) nonsense probably null
R5201:Cyp2b10 UTSW 7 25,616,419 (GRCm39) missense probably damaging 1.00
R5330:Cyp2b10 UTSW 7 25,613,414 (GRCm39) nonsense probably null
R5586:Cyp2b10 UTSW 7 25,616,437 (GRCm39) missense probably damaging 1.00
R5964:Cyp2b10 UTSW 7 25,625,648 (GRCm39) missense probably benign 0.28
R6043:Cyp2b10 UTSW 7 25,616,764 (GRCm39) missense probably damaging 0.99
R6470:Cyp2b10 UTSW 7 25,611,081 (GRCm39) missense possibly damaging 0.57
R6991:Cyp2b10 UTSW 7 25,616,780 (GRCm39) missense probably benign 0.05
R7567:Cyp2b10 UTSW 7 25,614,204 (GRCm39) missense probably damaging 1.00
R7847:Cyp2b10 UTSW 7 25,597,185 (GRCm39) missense possibly damaging 0.52
R8131:Cyp2b10 UTSW 7 25,614,242 (GRCm39) nonsense probably null
R8486:Cyp2b10 UTSW 7 25,614,306 (GRCm39) missense probably benign
R8988:Cyp2b10 UTSW 7 25,625,670 (GRCm39) missense probably damaging 1.00
R8992:Cyp2b10 UTSW 7 25,624,815 (GRCm39) missense unknown
R9286:Cyp2b10 UTSW 7 25,616,391 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGAATTGTAGGGTGATGGTCAAAGTCC -3'
(R):5'- TGGAGCCCTGGAGATTTGGAGAC -3'

Sequencing Primer
(F):5'- TCAAAGTCCTTGTTGTTTAGTGC -3'
(R):5'- GCAATAGGAGTACTGATTTCCAGC -3'
Posted On 2014-01-29