Mutagenetix > Incidental Mutation

Incidental Mutation 'R9787:Cyp2b9'

734400

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

Essential gene?

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

Stock #

R9787 (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 26200834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 356 (I356V)

Ref Sequence

ENSEMBL: ENSMUSP00000080846 (fasta)

Gene Model

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

AlphaFold

P12790

Predicted Effect

probably benign
Transcript: ENSMUST00000082214
AA Change: I356V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: I356V

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,501,271	T26A	probably benign	Het
Arhgap27	A	G	11: 103,339,222	S239P	possibly damaging	Het
Bambi	T	C	18: 3,511,515	V112A	possibly damaging	Het
BC034090	T	A	1: 155,242,209	E54D	possibly damaging	Het
BC052040	T	A	2: 115,674,755	L169Q	probably damaging	Het
Chst13	C	T	6: 90,309,092	R296H	probably benign	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Ctbs	T	A	3: 146,454,354	V46E	probably damaging	Het
Dot1l	A	G	10: 80,764,638	T40A	probably benign	Het
Dst	C	T	1: 34,180,443	T1988M	probably benign	Het
Fam184a	T	A	10: 53,750,768	D38V	possibly damaging	Het
Fank1	T	A	7: 133,862,158	F83I	probably damaging	Het
Fto	T	A	8: 91,485,258	W404R	probably damaging	Het
Gabra4	T	A	5: 71,633,661	R279S	possibly damaging	Het
Garem2	C	T	5: 30,114,221	P227L	probably damaging	Het
Gfra4	C	A	2: 131,042,680	M1I	probably null	Het
Gin1	T	A	1: 97,775,486	H11Q	probably damaging	Het
Gli3	G	A	13: 15,725,801	G1258R	probably damaging	Het
Gsx1	T	C	5: 147,189,867	S167P	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,771,417		probably benign	Het
Il7	G	A	3: 7,576,111	R82C	probably damaging	Het
Lair1	A	T	7: 4,010,795	V151E	probably damaging	Het
Lpar1	T	C	4: 58,437,349	D360G	probably benign	Het
Malrd1	T	A	2: 15,620,590	N345K	unknown	Het
Mbnl1	T	A	3: 60,595,665	N82K	probably damaging	Het
Mtdh	C	A	15: 34,123,698	T357N	probably benign	Het
Muc6	T	A	7: 141,641,481	K1306*	probably null	Het
Nsd1	T	A	13: 55,313,705	C2685S	probably benign	Het
Olfr2	A	T	7: 107,001,692	L56H	probably damaging	Het
Optn	T	A	2: 5,031,339	Q444L	probably damaging	Het
Pan2	T	A	10: 128,308,354	D157E	probably benign	Het
Pole	G	A	5: 110,318,000		probably null	Het
Stau2	A	T	1: 16,460,371	I108N	unknown	Het
Sugp2	A	G	8: 70,242,778	K134E	probably benign	Het
Tcaf3	C	T	6: 42,597,090	V63I	probably benign	Het
Tcf7	T	A	11: 52,282,946		probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Tubb2b	T	C	13: 34,128,426	D128G	probably benign	Het
Umodl1	A	T	17: 30,959,350	Q100L	probably damaging	Het
Unc79	T	A	12: 103,146,361	N2230K	probably benign	Het
Zc3hav1l	T	C	6: 38,295,166	T223A	probably benign	Het
Zfhx4	G	A	3: 5,390,446	D1167N	possibly damaging	Het
Zfp36	A	T	7: 28,377,919	L200Q	probably damaging	Het
Zswim9	T	A	7: 13,260,278	L650F	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
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
Z1177:Cyp2b9	UTSW	7	26201163	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGCACACTTTTCCTGGGTTG -3'
(R):5'- TATGGAAAACAGGCAGTCCCTAAG -3'

Sequencing Primer
(F):5'- GTTGTTGGCTGTTAGAATACAATACC -3'
(R):5'- GGCAGTCCCTAAGTAAAACAGAATGC -3'

Posted On

2022-11-14