Mutagenetix > Incidental Mutations

Incidental Mutation 'R7515:Cyp2b9'

582392

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R7515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26173411-26210661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26199171 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 317 (Y317C)

Ref Sequence

ENSEMBL: ENSMUSP00000080846 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000082214
AA Change: Y317C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: Y317C

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	T	11: 5,628,905	E56D	possibly damaging	Het
Ankrd44	T	C	1: 54,766,355	Y182C	probably damaging	Het
Anxa3	A	T	5: 96,838,320	N273Y	probably damaging	Het
Apobec2	T	C	17: 48,422,987	E217G	probably damaging	Het
Arhgap24	A	G	5: 102,846,016		probably benign	Het
Asap2	A	G	12: 21,229,239	H374R	possibly damaging	Het
Camsap2	T	C	1: 136,345,370	D23G	probably damaging	Het
Ccr2	T	C	9: 124,106,160	V159A	probably damaging	Het
Cfap61	T	A	2: 146,042,725	D614E	unknown	Het
Crb2	G	A	2: 37,783,400	G103R	probably damaging	Het
Dhx36	A	G	3: 62,472,087	V860A	probably benign	Het
Dnah3	T	C	7: 120,073,592	D553G	probably benign	Het
Dnah7c	T	C	1: 46,457,290	S112P	probably benign	Het
Dnah9	A	G	11: 65,841,414	F4222S	probably benign	Het
Ei24	T	C	9: 36,789,915	D36G	probably damaging	Het
Etv3	G	T	3: 87,528,056	R78L	possibly damaging	Het
Fbxo34	T	C	14: 47,530,341	L437P	possibly damaging	Het
Foxn1	T	C	11: 78,371,144	D133G	possibly damaging	Het
Gabra1	T	A	11: 42,154,833	D150V	possibly damaging	Het
Gpr158	T	C	2: 21,368,281	L9P	probably damaging	Het
H2-M10.3	G	A	17: 36,366,543	T281I	probably damaging	Het
Il18r1	T	C	1: 40,498,670	S532P	not run	Het
Itpr2	T	C	6: 146,327,110	D1329G	probably damaging	Het
Jakmip2	A	T	18: 43,571,126	N384K	probably benign	Het
Kdsr	A	G	1: 106,734,560	V255A	possibly damaging	Het
Kifc1	A	G	17: 33,884,803	L182P	probably damaging	Het
Lgals8	G	A	13: 12,448,462	R198*	probably null	Het
Lrrk1	A	T	7: 66,262,562	M1750K	probably benign	Het
Lrsam1	A	G	2: 32,940,239		probably null	Het
Lztr1	C	T	16: 17,509,661	A76V	possibly damaging	Het
Mcc	G	T	18: 44,493,432	H366N	probably benign	Het
Mif4gd	A	G	11: 115,608,396	V220A	possibly damaging	Het
Mtmr12	T	A	15: 12,269,951	F708L	probably damaging	Het
Muc16	A	T	9: 18,639,662	W5112R	probably benign	Het
Ndrg2	A	G	14: 51,908,923	I140T	probably benign	Het
Nid2	C	A	14: 19,791,567	Q887K	probably benign	Het
Nop16	A	T	13: 54,589,737	S48T	possibly damaging	Het
Nrap	G	A	19: 56,366,427	T489I	possibly damaging	Het
Oas1e	C	T	5: 120,791,886	G189D	probably damaging	Het
Olfr1238	A	G	2: 89,406,906	Y58H	possibly damaging	Het
Olfr854	A	T	9: 19,566,653	C244S	probably damaging	Het
Pcdha5	A	T	18: 36,962,118	D560V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Phldb2	C	T	16: 45,774,240	D901N	possibly damaging	Het
Piezo1	T	C	8: 122,485,296	H2058R		Het
Ptgis	T	A	2: 167,206,838	K419N	possibly damaging	Het
Ptprz1	T	C	6: 23,022,267	F1714L	probably damaging	Het
Rasa2	T	C	9: 96,552,300		probably null	Het
Recql	C	T	6: 142,374,885	D146N	probably damaging	Het
Rnf6	T	G	5: 146,211,792	S139R	probably damaging	Het
Rock1	A	G	18: 10,067,631	S1301P	probably damaging	Het
Safb2	A	G	17: 56,582,982		probably null	Het
Setd5	T	A	6: 113,110,889	I137N	probably damaging	Het
Sf3b6	G	A	12: 4,820,619	R19Q	probably damaging	Het
Slc15a5	T	A	6: 138,043,498	H279L	possibly damaging	Het
Slc26a9	A	G	1: 131,753,973	T175A	probably damaging	Het
Sspo	A	T	6: 48,493,886	N36I	probably damaging	Het
Supv3l1	A	C	10: 62,432,311	F585C	probably damaging	Het
Tnrc6c	G	T	11: 117,741,681	V1070L	probably benign	Het
Vmn2r53	T	A	7: 12,581,919	M658L	probably benign	Het
Zc3h13	A	G	14: 75,308,909	D150G	unknown	Het
Zfp607b	T	C	7: 27,703,496	V459A	probably benign	Het
Zfp653	T	C	9: 22,071,131	R71G	probably damaging	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
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
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
R8839:Cyp2b9	UTSW	7	26200760	missense	probably damaging	0.96
Z1177:Cyp2b9	UTSW	7	26201163	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGTGTTCATCTTGCAAGCCA -3'
(R):5'- GACAGACAGATGGTTGGATATAACT -3'

Sequencing Primer
(F):5'- AAGCCAATCTTGACAATCTCTTC -3'
(R):5'- TAGGAGAAAATAACAGAAAACTGGTC -3'

Posted On

2019-10-17