Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02341:Cyp2b10'

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

Status

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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