Mutagenetix > Incidental Mutations

Incidental Mutation 'R0393:Cyp2b10'

31792

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

038599-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R0393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25897620-25926624 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 25914934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000005477
Gene: ENSMUSG00000030483

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

SMART Domains

Protein: ENSMUSP00000072264
Gene: ENSMUSG00000030483

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:p450	31	488	2e-152	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144140

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

100% (59/59)

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
Abcc9	C	T	6: 142,645,878		probably benign	Het
Akr1b7	T	G	6: 34,415,400	Y49*	probably null	Het
Ankrd10	G	T	8: 11,635,482	R46S	possibly damaging	Het
Atp13a5	A	G	16: 29,266,929		probably benign	Het
Baz1a	A	G	12: 54,918,436		probably null	Het
Bicd2	C	T	13: 49,379,870	T644M	probably damaging	Het
Ccr9	A	T	9: 123,779,970	H239L	probably benign	Het
Cd180	A	T	13: 102,705,900	N485Y	probably damaging	Het
Ces1d	T	A	8: 93,192,772	S131C	probably damaging	Het
Cnpy2	T	A	10: 128,326,207	S116R	probably benign	Het
Crym	T	C	7: 120,189,749	K285R	probably benign	Het
Cyp2a4	A	T	7: 26,312,868	I359F	possibly damaging	Het
Dcpp3	A	T	17: 23,917,951		probably benign	Het
Dnah8	T	A	17: 30,708,390	I1340K	probably benign	Het
Fbln1	T	C	15: 85,227,076	C144R	probably damaging	Het
Gm1553	T	C	10: 82,492,176	R66G	unknown	Het
Il10rb	G	A	16: 91,412,010	V103I	probably benign	Het
Irak1bp1	T	A	9: 82,846,561	W182R	probably benign	Het
Kcna3	T	C	3: 107,036,999	S193P	probably damaging	Het
Kif14	C	T	1: 136,482,418	H628Y	probably damaging	Het
Krt31	A	G	11: 100,050,253	L77P	probably damaging	Het
Krt36	C	T	11: 100,104,114	A211T	possibly damaging	Het
L3mbtl2	C	T	15: 81,668,741	A125V	probably damaging	Het
Lmo7	A	G	14: 101,900,456	T743A	probably benign	Het
Lyst	C	T	13: 13,647,079	T1346M	probably benign	Het
Mapkbp1	T	A	2: 120,012,903		probably null	Het
Mif	T	C	10: 75,859,804	D55G	probably benign	Het
Mlh3	G	T	12: 85,267,587	C608*	probably null	Het
Mlip	A	T	9: 77,239,577	C85S	probably benign	Het
Mug1	T	C	6: 121,849,850	S211P	possibly damaging	Het
Mybl2	T	A	2: 163,061,608		probably benign	Het
Myh8	C	T	11: 67,306,017		probably benign	Het
Nanos1	A	G	19: 60,756,930	Y222C	probably damaging	Het
Olfr1113	A	T	2: 87,213,693	Y267F	probably benign	Het
Olfr1155	T	C	2: 87,943,565	D21G	possibly damaging	Het
Olfr138	G	T	17: 38,274,883	M37I	probably benign	Het
Papolb	A	G	5: 142,529,456	V144A	probably damaging	Het
Pctp	A	G	11: 89,986,119	S185P	probably benign	Het
Plod1	A	T	4: 147,918,841	L509Q	probably null	Het
Ppp1r13b	C	A	12: 111,835,688	M290I	probably benign	Het
Ralb	G	C	1: 119,478,126		probably null	Het
Slc4a8	T	A	15: 100,774,638	D18E	probably damaging	Het
Speg	A	C	1: 75,423,924	H2576P	possibly damaging	Het
Spock1	T	C	13: 57,440,536	D241G	probably damaging	Het
Tcam1	T	A	11: 106,284,214	V165E	probably benign	Het
Thbs1	T	A	2: 118,112,991	V30E	possibly damaging	Het
Tll2	A	G	19: 41,088,826	Y834H	possibly damaging	Het
Tmem5	T	C	10: 122,095,936		probably benign	Het
Trpm6	G	A	19: 18,778,644	D84N	probably damaging	Het
Ubr1	T	A	2: 120,906,946	Q1039L	probably damaging	Het
Ubr4	A	G	4: 139,410,860		probably benign	Het
Vmn1r74	T	C	7: 11,847,315	Y181H	possibly damaging	Het
Vmn2r13	T	C	5: 109,156,529	T679A	probably benign	Het
Vmn2r91	A	T	17: 18,105,450	Y110F	probably damaging	Het
Zbtb40	A	C	4: 137,018,531	S64A	probably benign	Het
Zfp184	T	A	13: 21,947,082		probably benign	Het

Other mutations in Cyp2b10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02270:Cyp2b10	APN	7	25913937	missense	probably damaging	0.99
IGL02341:Cyp2b10	APN	7	25911242	missense	probably benign	0.33
IGL02557:Cyp2b10	APN	7	25914881	missense	probably benign
R0038:Cyp2b10	UTSW	7	25914862	missense	probably benign	0.21
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

Predicted Primers

PCR Primer
(F):5'- TCCTGGTGCCCACAGACAAATCTC -3'
(R):5'- TCTGGACATTACTCAGCCCCAGAC -3'

Sequencing Primer
(F):5'- AGACAAATCTCCAAAAACCTGC -3'
(R):5'- GCCCCAGACAGTATCCCTTG -3'

Posted On

2013-04-24