Incidental Mutation 'IGL02341:Cyp2b10'
ID 289067
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 p16, Cyp2b, Cyp2b20, phenobarbitol inducible, type b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL02341
Quality Score
Chromosome 7
Chromosomal Location 25597083-25626049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25610667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 59 (R59Q)
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: R59Q

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000005477
Gene: ENSMUSG00000030483
AA Change: R59Q

signal peptide 1 22 N/A INTRINSIC
Pfam:p450 31 497 4.1e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072438
AA Change: R59Q

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072264
Gene: ENSMUSG00000030483
AA Change: R59Q

signal peptide 1 22 N/A INTRINSIC
Pfam:p450 31 488 2e-152 PFAM
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 C T 15: 96,270,066 (GRCm39) S1393L probably benign Het
Bahcc1 T A 11: 120,163,346 (GRCm39) I548N probably damaging Het
Baiap3 A T 17: 25,467,290 (GRCm39) L405Q possibly damaging Het
Cacna1g T G 11: 94,352,978 (GRCm39) Q349P probably damaging Het
Ccdc30 T C 4: 119,213,978 (GRCm39) T184A possibly damaging Het
Ccdc63 A G 5: 122,251,261 (GRCm39) I383T probably benign Het
Ccnk A G 12: 108,161,989 (GRCm39) E298G unknown Het
Ccnt1 T C 15: 98,444,664 (GRCm39) E223G possibly damaging Het
Clcc1 T A 3: 108,580,699 (GRCm39) L333I possibly damaging Het
Cyp3a41b T A 5: 145,510,461 (GRCm39) T138S probably benign Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dnah8 A T 17: 30,966,231 (GRCm39) I2474F probably damaging Het
Dok1 T C 6: 83,010,035 (GRCm39) T25A probably damaging Het
Ears2 G A 7: 121,638,987 (GRCm39) A479V probably benign Het
Erc1 T A 6: 119,571,934 (GRCm39) I981F possibly damaging Het
Gm8730 A G 8: 103,591,775 (GRCm39) noncoding transcript Het
Gm9962 C T 7: 57,037,042 (GRCm39) probably benign Het
Has3 A T 8: 107,600,637 (GRCm39) Y33F probably damaging Het
Hk1 A G 10: 62,120,159 (GRCm39) S607P possibly damaging Het
Hlcs T A 16: 94,031,969 (GRCm39) I612F probably damaging Het
Llgl2 T A 11: 115,741,946 (GRCm39) S663T possibly damaging Het
Lrriq1 T C 10: 103,060,802 (GRCm39) H100R probably benign Het
Lypd8l T C 11: 58,503,656 (GRCm39) S17G possibly damaging Het
Magi2 T A 5: 20,671,201 (GRCm39) I678N probably damaging Het
Megf11 G A 9: 64,451,902 (GRCm39) G109S probably damaging Het
Morc2b A T 17: 33,356,281 (GRCm39) I497K probably damaging Het
Mybpc2 A C 7: 44,164,354 (GRCm39) S404A probably benign Het
Mylip A G 13: 45,544,752 (GRCm39) R59G probably damaging Het
Mylk3 A T 8: 86,078,601 (GRCm39) I501N probably damaging Het
Myo19 A G 11: 84,778,871 (GRCm39) probably benign Het
Nat2 A G 8: 67,954,370 (GRCm39) Y160C possibly damaging Het
Nf1 C T 11: 79,455,752 (GRCm39) A2554V probably benign Het
Niban3 A T 8: 72,056,443 (GRCm39) N381I possibly damaging Het
Ninl A T 2: 150,786,525 (GRCm39) C153* probably null Het
Nlrp5 C T 7: 23,103,577 (GRCm39) R15C probably benign Het
Nphp4 A T 4: 152,639,926 (GRCm39) probably benign Het
Obscn C A 11: 59,026,651 (GRCm39) R184L probably benign Het
Or6c202 T A 10: 128,996,302 (GRCm39) I184F probably benign Het
Or6c6c A T 10: 129,541,358 (GRCm39) T204S probably damaging Het
Or6c8 A T 10: 128,915,330 (GRCm39) C167* probably null Het
Phip A T 9: 82,814,936 (GRCm39) V262D probably damaging Het
Ptprg T A 14: 12,154,360 (GRCm38) S694T probably benign Het
Reck T A 4: 43,925,160 (GRCm39) D466E probably damaging Het
Rimbp2 G T 5: 128,878,025 (GRCm39) Y213* probably null Het
Scn2a C T 2: 65,518,721 (GRCm39) T365M probably damaging Het
Scpep1 T A 11: 88,835,314 (GRCm39) T120S probably benign Het
Sp7 T A 15: 102,267,657 (GRCm39) T50S possibly damaging Het
Tbc1d1 A G 5: 64,432,750 (GRCm39) R304G probably damaging Het
Tiam1 A G 16: 89,695,257 (GRCm39) S67P probably damaging Het
Tjp1 G A 7: 64,962,382 (GRCm39) T1185I probably damaging Het
Tspan2 T A 3: 102,672,529 (GRCm39) I178N probably damaging Het
Tusc2 T A 9: 107,442,109 (GRCm39) *103R probably null Het
Uggt1 A T 1: 36,203,600 (GRCm39) *47R probably null Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vcpip1 T A 1: 9,795,175 (GRCm39) K1065N possibly damaging Het
Zfp532 C A 18: 65,757,849 (GRCm39) P594Q probably damaging Het
Other mutations in Cyp2b10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02270:Cyp2b10 APN 7 25,613,362 (GRCm39) missense probably damaging 0.99
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
R1282:Cyp2b10 UTSW 7 25,625,505 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16