Incidental Mutation 'R4831:Cyp2b10'
ID 372807
Institutional Source Beutler Lab
Gene Symbol Cyp2b10
Ensembl Gene ENSMUSG00000030483
Gene Name cytochrome P450, family 2, subfamily b, polypeptide 10
Synonyms phenobarbitol inducible, type b, p16, Cyp2b20, Cyp2b
MMRRC Submission 042447-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4831 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 25897620-25926624 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 25915496 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 309 (Y309*)
Ref Sequence ENSEMBL: ENSMUSP00000072264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005477] [ENSMUST00000072438]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000005477
AA Change: Y309*
SMART Domains Protein: ENSMUSP00000005477
Gene: ENSMUSG00000030483
AA Change: Y309*

signal peptide 1 22 N/A INTRINSIC
Pfam:p450 31 497 4.1e-149 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000072438
AA Change: Y309*
SMART Domains Protein: ENSMUSP00000072264
Gene: ENSMUSG00000030483
AA Change: Y309*

signal peptide 1 22 N/A INTRINSIC
Pfam:p450 31 488 2e-152 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144140
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 99% (96/97)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik C T 11: 69,900,577 (GRCm38) V59I possibly damaging Het
4930544M13Rik T G 13: 114,607,647 (GRCm38) noncoding transcript Het
Abca13 A T 11: 9,542,077 (GRCm38) K4373* probably null Het
Abtb2 A T 2: 103,683,475 (GRCm38) T410S probably benign Het
Adamts13 T C 2: 26,983,130 (GRCm38) probably null Het
Ahnak2 C G 12: 112,775,749 (GRCm38) D630H probably damaging Het
Aox3 T C 1: 58,152,566 (GRCm38) S426P probably damaging Het
Armc4 G T 18: 7,222,564 (GRCm38) H568Q possibly damaging Het
Atxn10 C T 15: 85,387,059 (GRCm38) S266F probably benign Het
B4galnt4 T A 7: 141,064,557 (GRCm38) probably null Het
B4galnt4 G T 7: 141,067,721 (GRCm38) M407I probably damaging Het
Bclaf1 T A 10: 20,322,126 (GRCm38) probably benign Het
C4b C T 17: 34,736,890 (GRCm38) probably null Het
Cdc42bpg T C 19: 6,311,335 (GRCm38) F297S probably damaging Het
Cdh10 A T 15: 19,013,578 (GRCm38) T755S probably benign Het
Ceacam12 T A 7: 18,077,380 (GRCm38) probably null Het
Cfap65 C A 1: 74,917,295 (GRCm38) V1042F possibly damaging Het
Cfap77 T C 2: 28,985,832 (GRCm38) I89V probably benign Het
Cfh T C 1: 140,086,387 (GRCm38) D688G probably benign Het
Clip1 C G 5: 123,583,601 (GRCm38) A1182P probably damaging Het
Dcaf5 T C 12: 80,339,084 (GRCm38) E756G probably benign Het
Dctn1 A T 6: 83,199,771 (GRCm38) Q1231L possibly damaging Het
Dennd1c T A 17: 57,066,428 (GRCm38) R682* probably null Het
Eml6 C A 11: 29,777,052 (GRCm38) E1319* probably null Het
Erap1 T C 13: 74,690,647 (GRCm38) I904T probably damaging Het
Eri1 A T 8: 35,476,519 (GRCm38) I207N possibly damaging Het
Farp1 G A 14: 121,277,057 (GRCm38) A933T probably damaging Het
Fcna T A 2: 25,625,341 (GRCm38) Q210L probably benign Het
Fhad1 A T 4: 141,916,067 (GRCm38) probably null Het
Fut8 T G 12: 77,393,829 (GRCm38) Y197D probably damaging Het
Garem1 G A 18: 21,129,768 (GRCm38) T663I probably benign Het
Gfm2 T C 13: 97,165,038 (GRCm38) S450P probably damaging Het
Gstk1 T G 6: 42,246,004 (GRCm38) probably benign Het
Helz2 C T 2: 181,237,417 (GRCm38) A803T probably damaging Het
Igsf9 T A 1: 172,491,888 (GRCm38) I280N probably damaging Het
Klhl10 A G 11: 100,445,843 (GRCm38) K219E probably benign Het
L3mbtl4 T A 17: 68,461,563 (GRCm38) V222D probably damaging Het
Lrrc9 A T 12: 72,499,679 (GRCm38) N1214Y probably damaging Het
Ltbp2 C T 12: 84,793,640 (GRCm38) E1051K possibly damaging Het
Mettl17 T C 14: 51,884,983 (GRCm38) F13S probably benign Het
Mettl24 C A 10: 40,683,417 (GRCm38) A21D possibly damaging Het
Mfsd6l T A 11: 68,556,505 (GRCm38) C61S probably benign Het
Mob4 T G 1: 55,152,740 (GRCm38) D204E probably benign Het
Mtus1 C G 8: 41,083,152 (GRCm38) R509T probably damaging Het
Nlrp4a T A 7: 26,450,419 (GRCm38) F484I possibly damaging Het
Nsrp1 T C 11: 77,050,618 (GRCm38) N88S probably benign Het
Olfr117 T A 17: 37,660,078 (GRCm38) H85L probably benign Het
Olfr623 T C 7: 103,660,471 (GRCm38) T260A probably benign Het
Olfr791 T A 10: 129,526,580 (GRCm38) Y118N probably damaging Het
Olfr975 C T 9: 39,950,112 (GRCm38) V220I probably benign Het
Parg A G 14: 32,202,451 (GRCm38) N69S probably benign Het
Pcdh9 A C 14: 93,887,941 (GRCm38) N264K probably damaging Het
Pcdhb22 G T 18: 37,520,562 (GRCm38) L694F probably damaging Het
Pcnt T C 10: 76,412,501 (GRCm38) E928G probably damaging Het
Pdzk1 G A 3: 96,868,435 (GRCm38) G373D probably benign Het
Pea15a A G 1: 172,199,173 (GRCm38) I89T probably damaging Het
Phc1 T A 6: 122,337,005 (GRCm38) probably benign Het
Pikfyve T A 1: 65,196,741 (GRCm38) C191S probably damaging Het
Pitpnm1 T A 19: 4,108,130 (GRCm38) D573E probably damaging Het
Pld5 A G 1: 176,274,884 (GRCm38) probably benign Het
Plscr2 A T 9: 92,291,077 (GRCm38) N89I possibly damaging Het
Pm20d2 A C 4: 33,179,293 (GRCm38) N315K probably damaging Het
Pnpla1 T A 17: 28,878,544 (GRCm38) M228K probably benign Het
Prim2 T C 1: 33,670,136 (GRCm38) probably benign Het
Ralgapa2 A G 2: 146,405,067 (GRCm38) probably benign Het
Rgs22 G T 15: 36,050,148 (GRCm38) H719N probably benign Het
Ror2 C T 13: 53,118,844 (GRCm38) D250N probably damaging Het
Saal1 A G 7: 46,699,647 (GRCm38) V281A probably benign Het
Selenof A T 3: 144,590,650 (GRCm38) K94N probably damaging Het
Slamf9 T A 1: 172,477,264 (GRCm38) C148* probably null Het
Slc4a7 T C 14: 14,772,699 (GRCm38) probably null Het
Slco1a5 A G 6: 142,234,705 (GRCm38) I657T probably benign Het
St3gal2 A T 8: 110,957,848 (GRCm38) H46L probably benign Het
Sucnr1 T G 3: 60,086,648 (GRCm38) M199R probably damaging Het
Taok1 T A 11: 77,553,674 (GRCm38) E525V probably null Het
Tbc1d10c T A 19: 4,185,446 (GRCm38) E298V probably damaging Het
Tll2 T A 19: 41,130,512 (GRCm38) H259L probably damaging Het
Tpcn1 A T 5: 120,553,489 (GRCm38) F300Y probably damaging Het
Uba6 T A 5: 86,131,338 (GRCm38) I642L probably benign Het
Ubqln5 T A 7: 104,129,622 (GRCm38) probably benign Het
Vmn1r27 A T 6: 58,215,842 (GRCm38) L9Q possibly damaging Het
Vmn2r100 C T 17: 19,521,410 (GRCm38) T128I probably benign Het
Vmn2r109 C T 17: 20,541,232 (GRCm38) G621D probably benign Het
Vmn2r49 C T 7: 9,986,425 (GRCm38) D380N probably benign Het
Vps13a C T 19: 16,677,992 (GRCm38) V1891I probably benign Het
Wbp2 G T 11: 116,080,637 (GRCm38) Y147* probably null Het
Wdr46 T C 17: 33,949,399 (GRCm38) probably benign Het
Wdr46 T A 17: 33,941,836 (GRCm38) N191K probably benign Het
Wnt2 A C 6: 18,023,286 (GRCm38) F121L probably benign Het
Xpnpep1 T A 19: 53,014,622 (GRCm38) D100V probably benign Het
Xpo4 T C 14: 57,590,102 (GRCm38) Y879C probably damaging Het
Zswim4 A T 8: 84,212,319 (GRCm38) V978D probably damaging Het
Other mutations in Cyp2b10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02270:Cyp2b10 APN 7 25,913,937 (GRCm38) missense probably damaging 0.99
IGL02341:Cyp2b10 APN 7 25,911,242 (GRCm38) missense probably benign 0.33
IGL02557:Cyp2b10 APN 7 25,914,881 (GRCm38) missense probably benign
R0038:Cyp2b10 UTSW 7 25,914,862 (GRCm38) missense probably benign 0.21
R0393:Cyp2b10 UTSW 7 25,914,934 (GRCm38) splice site probably benign
R0569:Cyp2b10 UTSW 7 25,897,735 (GRCm38) missense probably damaging 1.00
R1035:Cyp2b10 UTSW 7 25,917,048 (GRCm38) missense probably benign 0.34
R1262:Cyp2b10 UTSW 7 25,915,411 (GRCm38) missense probably benign 0.16
R1282:Cyp2b10 UTSW 7 25,926,080 (GRCm38) missense probably damaging 1.00
R1452:Cyp2b10 UTSW 7 25,925,388 (GRCm38) intron probably benign
R2163:Cyp2b10 UTSW 7 25,925,385 (GRCm38) intron probably benign
R4520:Cyp2b10 UTSW 7 25,911,557 (GRCm38) missense probably benign 0.05
R5201:Cyp2b10 UTSW 7 25,916,994 (GRCm38) missense probably damaging 1.00
R5330:Cyp2b10 UTSW 7 25,913,989 (GRCm38) nonsense probably null
R5586:Cyp2b10 UTSW 7 25,917,012 (GRCm38) missense probably damaging 1.00
R5964:Cyp2b10 UTSW 7 25,926,223 (GRCm38) missense probably benign 0.28
R6043:Cyp2b10 UTSW 7 25,917,339 (GRCm38) missense probably damaging 0.99
R6470:Cyp2b10 UTSW 7 25,911,656 (GRCm38) missense possibly damaging 0.57
R6991:Cyp2b10 UTSW 7 25,917,355 (GRCm38) missense probably benign 0.05
R7567:Cyp2b10 UTSW 7 25,914,779 (GRCm38) missense probably damaging 1.00
R7847:Cyp2b10 UTSW 7 25,897,760 (GRCm38) missense possibly damaging 0.52
R8131:Cyp2b10 UTSW 7 25,914,817 (GRCm38) nonsense probably null
R8486:Cyp2b10 UTSW 7 25,914,881 (GRCm38) missense probably benign
R8988:Cyp2b10 UTSW 7 25,926,245 (GRCm38) missense probably damaging 1.00
R8992:Cyp2b10 UTSW 7 25,925,390 (GRCm38) missense unknown
R9286:Cyp2b10 UTSW 7 25,916,966 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-01