Mutagenetix > Incidental Mutation

Incidental Mutation 'R7816:Cyp2b9'

601535

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: 0.098) question?

Stock #

R7816 (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 26201092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 385 (N385S)

Ref Sequence

ENSEMBL: ENSMUSP00000080846 (fasta)

Gene Model

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

AlphaFold

P12790

Predicted Effect

probably benign
Transcript: ENSMUST00000082214
AA Change: N385S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: N385S

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,292,429	S1321P	probably benign	Het
Abcb1a	T	C	5: 8,686,132	V175A	possibly damaging	Het
Adamts20	T	A	15: 94,322,844	M1403L	probably benign	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Amotl2	T	A	9: 102,731,654	I789K	probably benign	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bcar3	C	T	3: 122,426,694	T80I	probably benign	Het
Bcas1	G	T	2: 170,406,427	F181L	probably benign	Het
Cacnb1	T	C	11: 98,005,289	E389G	probably damaging	Het
Cd52	A	T	4: 134,093,888		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Coro2a	T	C	4: 46,546,809	D182G	probably benign	Het
Crp	T	C	1: 172,698,710	S121P	possibly damaging	Het
Csnka2ip	T	C	16: 64,479,489		probably benign	Het
Cttnbp2	T	C	6: 18,448,414	D82G	probably damaging	Het
Dppa1	A	G	11: 46,616,176	S26P	possibly damaging	Het
Eif4e3	T	C	6: 99,640,638	R91G	probably damaging	Het
F13a1	A	T	13: 37,025,771	N73K	probably benign	Het
Fbxl13	T	C	5: 21,543,787	Y378C	probably benign	Het
Glis2	G	A	16: 4,613,464	R285H	probably damaging	Het
Gm13089	G	T	4: 143,698,194	N226K	probably benign	Het
Gm17174	T	A	14: 51,592,112		probably benign	Het
Gm5771	T	C	6: 41,394,773	L51P	probably damaging	Het
Golga1	G	A	2: 39,052,098	S102F	probably damaging	Het
Hdac1	A	T	4: 129,518,095	Y336N	probably damaging	Het
Hfe	G	T	13: 23,704,399	T168K	possibly damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ighv1-56	T	C	12: 115,243,226	S4G	probably benign	Het
Ino80d	A	G	1: 63,086,397	Y74H	probably damaging	Het
Ints1	A	T	5: 139,771,379	H427Q	possibly damaging	Het
Itpkb	T	A	1: 180,413,889	V708E	probably damaging	Het
Jmjd4	G	T	11: 59,450,336	G31V	probably benign	Het
Kcnh5	C	T	12: 74,976,683	C537Y	probably damaging	Het
Kcnj11	A	T	7: 46,099,857	L14Q	probably damaging	Het
Lipo4	A	T	19: 33,514,242	W114R	probably damaging	Het
Lrrc9	T	A	12: 72,495,692	I1096N	probably damaging	Het
Lyzl6	C	T	11: 103,636,854	V15I	probably benign	Het
Map4k4	A	G	1: 40,014,208	T856A	possibly damaging	Het
Mks1	T	A	11: 87,860,716	W346R	probably damaging	Het
Mtmr14	T	C	6: 113,266,302	Y32H	probably damaging	Het
Muc13	A	G	16: 33,799,016	S45G	unknown	Het
Mx2	G	A	16: 97,545,612	G93D	probably damaging	Het
Noc4l	A	T	5: 110,649,673	V365E	probably benign	Het
Odf2l	T	C	3: 145,151,015	I577T	probably damaging	Het
Olfr723	T	C	14: 49,929,165	I126M	probably damaging	Het
Peg10	C	CTCT	6: 4,756,453		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pnoc	A	T	14: 65,401,858	I186N	possibly damaging	Het
Pou4f3	A	G	18: 42,395,186	I65V	probably benign	Het
Ptpn21	G	A	12: 98,682,532	A955V	probably damaging	Het
Rabgap1	G	T	2: 37,563,464	R968L	probably benign	Het
Rarres1	T	C	3: 67,479,344	N282S	probably damaging	Het
Rgs17	T	C	10: 5,841,501	N72S	probably benign	Het
Rp1	T	A	1: 4,347,703	N1062I	probably damaging	Het
Rpn1	T	A	6: 88,103,396	V559D	possibly damaging	Het
Rrbp1	A	T	2: 143,988,935	N437K	probably damaging	Het
Rtn4r	C	A	16: 18,151,535	Q276K	probably benign	Het
Rwdd4a	T	C	8: 47,537,300	S16P	probably damaging	Het
S1pr1	A	G	3: 115,712,298	S216P	possibly damaging	Het
Scn8a	C	A	15: 101,011,036	T795K	possibly damaging	Het
Spryd3	A	C	15: 102,117,706	F401C	probably damaging	Het
Stk36	G	T	1: 74,611,169	E287*	probably null	Het
Tbc1d1	G	T	5: 64,349,752	S1104I	probably damaging	Het
Tex15	A	G	8: 33,581,655	D2410G	probably benign	Het
Tmem92	T	A	11: 94,778,958	I116F	possibly damaging	Het
Trp53bp2	A	G	1: 182,448,695	E747G	probably damaging	Het
Trp63	A	T	16: 25,889,240	D562V	probably damaging	Het
Ttc21b	A	G	2: 66,247,361	Y167H	possibly damaging	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Uggt1	G	A	1: 36,163,315	S1067F	possibly damaging	Het
Vmn2r103	T	A	17: 19,794,214	Y423N	probably benign	Het
Vmn2r111	A	G	17: 22,573,102	Y58H	probably damaging	Het
Ypel3	T	A	7: 126,777,841	V2E	probably damaging	Het
Ythdf3	T	C	3: 16,189,517	V34A	probably damaging	Het
Zfp180	A	T	7: 24,105,145	S330C	probably damaging	Het
Zfp292	G	A	4: 34,809,865	P1060S	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp981	C	T	4: 146,537,643	R342C	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
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
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'- AAGACACACTGTTCCGAGGG -3'
(R):5'- TGTGTCTCAAAGGTTGGGCC -3'

Sequencing Primer
(F):5'- TACCTGCTCCCCAAGGTGAG -3'
(R):5'- TGCCCTCTAGTGTCTGGGAAAC -3'

Posted On

2019-12-03