Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.099) 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 (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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- TGAGATTCACAGACTGAAGGAC -3'
(R):5'- GGTTCAGCTGAGTGTTCATTCAC -3'

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

Posted On

2016-03-01