Mutagenetix > Incidental Mutation

Incidental Mutation 'R2418:Cyp2b9'

249069

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b9

Ensembl Gene

ENSMUSG00000040660

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 9

Synonyms

16\alphaoh-a, phenobarbitol inducible, type a, Cyp2b

MMRRC Submission

040380-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R2418 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26173411-26210661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26186707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 100 (T100A)

Ref Sequence

ENSEMBL: ENSMUSP00000080846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082214]

AlphaFold

P12790

Predicted Effect

probably benign
Transcript: ENSMUST00000082214
AA Change: T100A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: T100A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:p450	31	488	1.7e-146	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,437,989	A768T	probably benign	Het
Acox3	A	G	5: 35,604,638	N442S	probably benign	Het
Acp5	C	A	9: 22,129,952	V60L	probably benign	Het
Arap3	T	C	18: 37,989,944	D501G	probably damaging	Het
Bcorl1	A	G	X: 48,370,541	T425A	probably damaging	Het
Btd	G	A	14: 31,641,136		probably null	Het
Cfap74	T	A	4: 155,455,709		probably benign	Het
Cnot8	G	A	11: 58,115,310	G222R	probably damaging	Het
Col4a4	G	T	1: 82,532,936	A205E	unknown	Het
Cwf19l1	T	C	19: 44,131,472	T77A	probably benign	Het
Ddx24	A	G	12: 103,417,737	L485P	probably damaging	Het
Dnah9	A	T	11: 66,095,415	L1131*	probably null	Het
Dnase1l3	T	A	14: 7,968,089	E272V	possibly damaging	Het
Dscc1	G	A	15: 55,083,424	R302*	probably null	Het
Elk3	T	C	10: 93,284,827	N50S	probably damaging	Het
Fmo3	A	T	1: 162,966,958	I181K	probably benign	Het
Golga3	T	C	5: 110,201,868	I655T	probably damaging	Het
Hspa1l	A	T	17: 34,977,188	T68S	probably benign	Het
Itgax	C	T	7: 128,142,333	R839W	probably damaging	Het
Itk	A	G	11: 46,338,217	F379L	probably damaging	Het
Kif7	C	A	7: 79,698,693	R1300L	probably benign	Het
Klkb1	A	T	8: 45,289,112	D43E	possibly damaging	Het
Kmt5b	C	T	19: 3,807,266	A318V	probably benign	Het
Krt78	T	C	15: 101,946,634	Y914C	probably benign	Het
Lactb2	T	C	1: 13,660,339	T38A	possibly damaging	Het
Lmbr1l	A	C	15: 98,907,537	F361C	possibly damaging	Het
Magi1	T	C	6: 93,745,910	D329G	probably damaging	Het
Map3k5	T	A	10: 20,110,857	V939E	probably benign	Het
Mcm8	C	T	2: 132,824,738	A233V	probably benign	Het
Mcur1	C	T	13: 43,549,537	V241M	possibly damaging	Het
Mical2	G	T	7: 112,320,734		probably null	Het
Nudt13	A	G	14: 20,311,513	E219G	probably damaging	Het
Olfr1212	A	G	2: 88,959,036	N190S	probably benign	Het
Olfr449	A	G	6: 42,838,049	H56R	probably benign	Het
Olfr653	A	T	7: 104,579,934	H96L	probably benign	Het
Osbpl7	A	C	11: 97,059,178	D395A	probably benign	Het
Osbpl9	A	G	4: 109,066,218	C495R	probably damaging	Het
Pcdhac1	T	C	18: 37,091,328	L398P	probably benign	Het
Pcnx4	T	A	12: 72,556,263	F433Y	probably damaging	Het
Pdp1	G	A	4: 11,961,838	P158S	probably damaging	Het
Pkd1l3	A	C	8: 109,670,721	*2152C	probably null	Het
Plcxd3	G	T	15: 4,574,763	K284N	probably benign	Het
Plxnb2	A	G	15: 89,161,069	V1058A	possibly damaging	Het
Ptbp1	T	C	10: 79,859,677	Y187H	probably damaging	Het
Resp18	T	C	1: 75,272,311	*176W	probably null	Het
Rps6ka2	A	C	17: 7,299,339	Q665H	possibly damaging	Het
Rtn1	T	C	12: 72,304,278	T386A	probably benign	Het
Samt2	A	T	X: 154,575,227		probably null	Het
Scn1a	T	C	2: 66,273,843	N1663S	probably damaging	Het
Smyd1	A	T	6: 71,239,553	I70N	probably damaging	Het
Tas2r105	T	C	6: 131,687,447	E6G	probably damaging	Het
Tchh	G	T	3: 93,445,629	R792L	unknown	Het
Tenm3	C	T	8: 48,276,658	D1438N	possibly damaging	Het
Tmem184b	A	G	15: 79,365,943	Y211H	possibly damaging	Het
Top3a	C	A	11: 60,748,016	G551V	possibly damaging	Het
Vmn1r168	A	T	7: 23,541,399	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,524,834	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,556,250	L17R	probably damaging	Het
Wdr66	A	C	5: 123,254,268		probably benign	Het

Other mutations in Cyp2b9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Cyp2b9	APN	7	26198505	missense	probably damaging	0.99
IGL01133:Cyp2b9	APN	7	26210235	missense	probably damaging	1.00
IGL01331:Cyp2b9	APN	7	26187715	missense	probably damaging	0.99
IGL02281:Cyp2b9	APN	7	26201104	missense	probably damaging	0.99
IGL02502:Cyp2b9	APN	7	26187814	critical splice donor site	probably null
IGL02713:Cyp2b9	APN	7	26173520	missense	probably benign	0.12
IGL03032:Cyp2b9	APN	7	26198600	splice site	probably benign
IGL03307:Cyp2b9	APN	7	26199051	missense	probably benign	0.00
R0010:Cyp2b9	UTSW	7	26186753	splice site	probably benign
R0025:Cyp2b9	UTSW	7	26200813	missense	probably benign	0.09
R0040:Cyp2b9	UTSW	7	26173474	missense	possibly damaging	0.68
R0184:Cyp2b9	UTSW	7	26187007	nonsense	probably null
R0370:Cyp2b9	UTSW	7	26210106	missense	probably damaging	1.00
R1595:Cyp2b9	UTSW	7	26200907	missense	possibly damaging	0.72
R1751:Cyp2b9	UTSW	7	26186675	missense	probably benign	0.05
R1835:Cyp2b9	UTSW	7	26200783	missense	probably benign
R1879:Cyp2b9	UTSW	7	26198569	missense	probably damaging	0.99
R2256:Cyp2b9	UTSW	7	26173605	critical splice donor site	probably null
R2257:Cyp2b9	UTSW	7	26173605	critical splice donor site	probably null
R3420:Cyp2b9	UTSW	7	26210103	missense	probably damaging	1.00
R4088:Cyp2b9	UTSW	7	26173456	missense	probably damaging	0.99
R4412:Cyp2b9	UTSW	7	26198443	missense	probably damaging	1.00
R4495:Cyp2b9	UTSW	7	26200755	missense	probably benign	0.00
R4615:Cyp2b9	UTSW	7	26201125	missense	probably damaging	1.00
R5375:Cyp2b9	UTSW	7	26187742	missense	probably damaging	1.00
R5426:Cyp2b9	UTSW	7	26187655	missense	probably benign
R5862:Cyp2b9	UTSW	7	26187807	missense	probably benign	0.01
R6237:Cyp2b9	UTSW	7	26173574	missense	probably benign	0.02
R6445:Cyp2b9	UTSW	7	26186987	missense	probably benign	0.13
R6992:Cyp2b9	UTSW	7	26201139	missense	probably benign	0.00
R7515:Cyp2b9	UTSW	7	26199171	missense	probably damaging	1.00
R7654:Cyp2b9	UTSW	7	26186942	missense	possibly damaging	0.72
R7816:Cyp2b9	UTSW	7	26201092	missense	probably benign	0.01
R7850:Cyp2b9	UTSW	7	26186686	nonsense	probably null
R8734:Cyp2b9	UTSW	7	26198610	intron	probably benign
R8790:Cyp2b9	UTSW	7	26198742	intron	probably benign
R8839:Cyp2b9	UTSW	7	26200760	missense	probably damaging	0.96
R9209:Cyp2b9	UTSW	7	26173579	missense	possibly damaging	0.52
R9723:Cyp2b9	UTSW	7	26210171	nonsense	probably null
R9787:Cyp2b9	UTSW	7	26200834	missense	probably benign	0.04
Z1177:Cyp2b9	UTSW	7	26201163	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TCAGATGGGTAAGTGTGGCC -3'
(R):5'- TCATGGTGGCCAGAGAGAATC -3'

Sequencing Primer
(F):5'- GAGGGGGCAATTTACCAATCTGTTAC -3'
(R):5'- AAGGGTCTTCCAGCGTTGC -3'

Posted On

2014-11-12