Mutagenetix > Incidental Mutations

Incidental Mutation 'R4831:Cyp2b10'

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

Is this an essential gene?

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

Stock #

R4831 (G1)

Quality Score

225

Status

Validated

Chromosome

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*

Domain	Start	End	E-Value	Type
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*

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

Meta Mutation Damage Score

0.9755

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	T	11: 69,900,577	V59I	possibly damaging	Het
4930544M13Rik	T	G	13: 114,607,647		noncoding transcript	Het
Abca13	A	T	11: 9,542,077	K4373*	probably null	Het
Abtb2	A	T	2: 103,683,475	T410S	probably benign	Het
Adamts13	T	C	2: 26,983,130		probably null	Het
Ahnak2	C	G	12: 112,775,749	D630H	probably damaging	Het
Aox3	T	C	1: 58,152,566	S426P	probably damaging	Het
Armc4	G	T	18: 7,222,564	H568Q	possibly damaging	Het
Atxn10	C	T	15: 85,387,059	S266F	probably benign	Het
B4galnt4	T	A	7: 141,064,557		probably null	Het
B4galnt4	G	T	7: 141,067,721	M407I	probably damaging	Het
Bclaf1	T	A	10: 20,322,126		probably benign	Het
C4b	C	T	17: 34,736,890		probably null	Het
Cdc42bpg	T	C	19: 6,311,335	F297S	probably damaging	Het
Cdh10	A	T	15: 19,013,578	T755S	probably benign	Het
Ceacam12	T	A	7: 18,077,380		probably null	Het
Cfap65	C	A	1: 74,917,295	V1042F	possibly damaging	Het
Cfap77	T	C	2: 28,985,832	I89V	probably benign	Het
Cfh	T	C	1: 140,086,387	D688G	probably benign	Het
Clip1	C	G	5: 123,583,601	A1182P	probably damaging	Het
Dcaf5	T	C	12: 80,339,084	E756G	probably benign	Het
Dctn1	A	T	6: 83,199,771	Q1231L	possibly damaging	Het
Dennd1c	T	A	17: 57,066,428	R682*	probably null	Het
Eml6	C	A	11: 29,777,052	E1319*	probably null	Het
Erap1	T	C	13: 74,690,647	I904T	probably damaging	Het
Eri1	A	T	8: 35,476,519	I207N	possibly damaging	Het
Farp1	G	A	14: 121,277,057	A933T	probably damaging	Het
Fcna	T	A	2: 25,625,341	Q210L	probably benign	Het
Fhad1	A	T	4: 141,916,067		probably null	Het
Fut8	T	G	12: 77,393,829	Y197D	probably damaging	Het
Garem1	G	A	18: 21,129,768	T663I	probably benign	Het
Gfm2	T	C	13: 97,165,038	S450P	probably damaging	Het
Gstk1	T	G	6: 42,246,004		probably benign	Het
Helz2	C	T	2: 181,237,417	A803T	probably damaging	Het
Igsf9	T	A	1: 172,491,888	I280N	probably damaging	Het
Klhl10	A	G	11: 100,445,843	K219E	probably benign	Het
L3mbtl4	T	A	17: 68,461,563	V222D	probably damaging	Het
Lrrc9	A	T	12: 72,499,679	N1214Y	probably damaging	Het
Ltbp2	C	T	12: 84,793,640	E1051K	possibly damaging	Het
Mettl17	T	C	14: 51,884,983	F13S	probably benign	Het
Mettl24	C	A	10: 40,683,417	A21D	possibly damaging	Het
Mfsd6l	T	A	11: 68,556,505	C61S	probably benign	Het
Mob4	T	G	1: 55,152,740	D204E	probably benign	Het
Mtus1	C	G	8: 41,083,152	R509T	probably damaging	Het
Nlrp4a	T	A	7: 26,450,419	F484I	possibly damaging	Het
Nsrp1	T	C	11: 77,050,618	N88S	probably benign	Het
Olfr117	T	A	17: 37,660,078	H85L	probably benign	Het
Olfr623	T	C	7: 103,660,471	T260A	probably benign	Het
Olfr791	T	A	10: 129,526,580	Y118N	probably damaging	Het
Olfr975	C	T	9: 39,950,112	V220I	probably benign	Het
Parg	A	G	14: 32,202,451	N69S	probably benign	Het
Pcdh9	A	C	14: 93,887,941	N264K	probably damaging	Het
Pcdhb22	G	T	18: 37,520,562	L694F	probably damaging	Het
Pcnt	T	C	10: 76,412,501	E928G	probably damaging	Het
Pdzk1	G	A	3: 96,868,435	G373D	probably benign	Het
Pea15a	A	G	1: 172,199,173	I89T	probably damaging	Het
Phc1	T	A	6: 122,337,005		probably benign	Het
Pikfyve	T	A	1: 65,196,741	C191S	probably damaging	Het
Pitpnm1	T	A	19: 4,108,130	D573E	probably damaging	Het
Pld5	A	G	1: 176,274,884		probably benign	Het
Plscr2	A	T	9: 92,291,077	N89I	possibly damaging	Het
Pm20d2	A	C	4: 33,179,293	N315K	probably damaging	Het
Pnpla1	T	A	17: 28,878,544	M228K	probably benign	Het
Prim2	T	C	1: 33,670,136		probably benign	Het
Ralgapa2	A	G	2: 146,405,067		probably benign	Het
Rgs22	G	T	15: 36,050,148	H719N	probably benign	Het
Ror2	C	T	13: 53,118,844	D250N	probably damaging	Het
Saal1	A	G	7: 46,699,647	V281A	probably benign	Het
Selenof	A	T	3: 144,590,650	K94N	probably damaging	Het
Slamf9	T	A	1: 172,477,264	C148*	probably null	Het
Slc4a7	T	C	14: 14,772,699		probably null	Het
Slco1a5	A	G	6: 142,234,705	I657T	probably benign	Het
St3gal2	A	T	8: 110,957,848	H46L	probably benign	Het
Sucnr1	T	G	3: 60,086,648	M199R	probably damaging	Het
Taok1	T	A	11: 77,553,674	E525V	probably null	Het
Tbc1d10c	T	A	19: 4,185,446	E298V	probably damaging	Het
Tll2	T	A	19: 41,130,512	H259L	probably damaging	Het
Tpcn1	A	T	5: 120,553,489	F300Y	probably damaging	Het
Uba6	T	A	5: 86,131,338	I642L	probably benign	Het
Ubqln5	T	A	7: 104,129,622		probably benign	Het
Vmn1r27	A	T	6: 58,215,842	L9Q	possibly damaging	Het
Vmn2r100	C	T	17: 19,521,410	T128I	probably benign	Het
Vmn2r109	C	T	17: 20,541,232	G621D	probably benign	Het
Vmn2r49	C	T	7: 9,986,425	D380N	probably benign	Het
Vps13a	C	T	19: 16,677,992	V1891I	probably benign	Het
Wbp2	G	T	11: 116,080,637	Y147*	probably null	Het
Wdr46	T	A	17: 33,941,836	N191K	probably benign	Het
Wdr46	T	C	17: 33,949,399		probably benign	Het
Wnt2	A	C	6: 18,023,286	F121L	probably benign	Het
Xpnpep1	T	A	19: 53,014,622	D100V	probably benign	Het
Xpo4	T	C	14: 57,590,102	Y879C	probably damaging	Het
Zswim4	A	T	8: 84,212,319	V978D	probably damaging	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
R0393:Cyp2b10	UTSW	7	25914934	splice site	probably benign
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
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'- TGAGATTCACAGACTGAAGGAC -3'
(R):5'- GGTTCAGCTGAGTGTTCATTCAC -3'

Sequencing Primer
(F):5'- GCCCAGAGATATGTGTGCATCTC -3'
(R):5'- GTGTTCATTCACACACCACC -3'

Posted On

2016-03-01