Mutagenetix > Incidental Mutation

Incidental Mutation 'R4495:Cyp2b9'

330931

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

041583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R4495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26173411-26210661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26200755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 329 (D329E)

Ref Sequence

ENSEMBL: ENSMUSP00000080846 (fasta)

Gene Model

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

AlphaFold

P12790

Predicted Effect

probably benign
Transcript: ENSMUST00000082214
AA Change: D329E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: D329E

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: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calcr	A	T	6: 3,708,484		probably null	Het
Cdh4	T	C	2: 179,780,389	V102A	probably damaging	Het
Cmya5	T	C	13: 93,094,065	E1505G	probably benign	Het
Ddx47	T	C	6: 135,021,466	F375S	possibly damaging	Het
Dnah7b	T	G	1: 46,085,632	S154A	probably benign	Het
Fry	G	T	5: 150,310,463	E133D	probably damaging	Het
Hydin	T	C	8: 110,595,402	L4562P	probably damaging	Het
Ifnlr1	A	T	4: 135,705,768	E505V	probably damaging	Het
Igfn1	T	C	1: 135,969,678	E1050G	possibly damaging	Het
Kidins220	T	A	12: 25,038,302		probably null	Het
Klra10	T	G	6: 130,279,348	E114D	probably benign	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mrgpra3	T	C	7: 47,590,065	I38V	probably benign	Het
Nfkb2	A	G	19: 46,308,439	D316G	probably damaging	Het
Nrxn2	A	T	19: 6,531,399	T412S	probably benign	Het
Olfr1281	T	A	2: 111,329,020	N200K	probably benign	Het
Palm3	C	T	8: 84,026,866	R97C	probably damaging	Het
Pdcd11	T	C	19: 47,111,006	V848A	probably benign	Het
Prdx1	T	C	4: 116,699,219	V188A	probably benign	Het
Prep	T	C	10: 45,120,819	F398L	probably benign	Het
Prlhr	A	T	19: 60,467,081	M349K	probably benign	Het
Rwdd2b	T	C	16: 87,434,562	T235A	probably benign	Het
Scn1a	T	C	2: 66,280,802		probably null	Het
Sidt1	C	T	16: 44,282,478	V295M	probably damaging	Het
Sla	T	C	15: 66,801,512	T10A	probably benign	Het
Slc22a20	A	G	19: 5,984,924	S170P	probably benign	Het
Syt6	C	A	3: 103,587,560	C280*	probably null	Het
Thbs2	A	G	17: 14,671,413	I954T	probably damaging	Het
Tmprss11b	T	A	5: 86,665,063	K125*	probably null	Het
Ugt1a6a	T	A	1: 88,139,183	L237H	probably damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Wdr53	A	G	16: 32,252,151	T105A	probably benign	Het
Xkrx	T	C	X: 134,150,996	N302S	possibly damaging	Het
Zfp704	T	A	3: 9,471,077	S128C	probably benign	Het
Zfp759	A	G	13: 67,138,925		probably null	Het
Zfyve16	A	T	13: 92,488,567	D1494E	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
R2418:Cyp2b9	UTSW	7	26186707	missense	probably benign	0.00
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
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'- TGAGGTTGAAGCTCATGGAG -3'
(R):5'- AAAGCTGGTCTCACCTTGGG -3'

Sequencing Primer
(F):5'- TAGTTTTAAACATGGGCATGGAG -3'
(R):5'- TCACCTTGGGGAGCAGGTAC -3'

Posted On

2015-07-21