Mutagenetix > Incidental Mutation

Incidental Mutation 'R0370:Cyp2b9'

30425

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

038576-MU

Accession Numbers

Essential gene?

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

Stock #

R0370 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26173411-26210661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26210106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 433 (K433M)

Ref Sequence

ENSEMBL: ENSMUSP00000080846 (fasta)

Gene Model

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

AlphaFold

P12790

Predicted Effect

probably damaging
Transcript: ENSMUST00000082214
AA Change: K433M

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

SMART Domains

Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: K433M

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	T	C	8: 123,501,554	S666P	probably damaging	Het
B3gntl1	A	T	11: 121,624,154	W263R	probably damaging	Het
Carmil3	A	G	14: 55,495,442	N270S	possibly damaging	Het
Ctdp1	T	C	18: 80,449,354	E642G	probably damaging	Het
Dcc	A	G	18: 71,587,985	V435A	possibly damaging	Het
Defa26	A	T	8: 21,618,859	M87L	probably benign	Het
Dnah11	T	A	12: 117,995,227	I2974L	probably benign	Het
Dnah3	T	C	7: 120,086,720	D131G	possibly damaging	Het
Dock6	A	T	9: 21,814,565	S1447R	probably benign	Het
Dtl	G	T	1: 191,575,350	N17K	probably benign	Het
Grid2	A	G	6: 64,345,734	I573V	possibly damaging	Het
Hoxa9	T	C	6: 52,225,704	E134G	possibly damaging	Het
Kcnn3	A	T	3: 89,667,092	N637I	probably damaging	Het
Ktn1	T	C	14: 47,664,075	F97L	probably benign	Het
Lmbrd2	T	C	15: 9,165,852	I271T	probably damaging	Het
Lrp6	A	C	6: 134,479,766	I845S	probably damaging	Het
Med13l	T	A	5: 118,741,826	N994K	probably benign	Het
Mrrf	A	T	2: 36,177,113		probably null	Het
Mtmr1	G	A	X: 71,388,231	V125I	probably damaging	Het
Nol8	C	T	13: 49,662,447	A677V	possibly damaging	Het
Olfr1047	A	T	2: 86,228,713	V86D	probably damaging	Het
Olfr309	T	A	7: 86,306,849	N88I	probably benign	Het
Olfr639	T	G	7: 104,012,059	L214F	probably damaging	Het
Paxip1	C	A	5: 27,760,086	V659F	probably damaging	Het
Pclo	T	C	5: 14,521,090	V163A	probably damaging	Het
Pkn3	T	A	2: 30,087,172	H641Q	probably damaging	Het
Plekhg6	G	A	6: 125,370,660	R444C	probably damaging	Het
Rfx2	T	C	17: 56,799,308	E175G	probably benign	Het
Samd9l	A	C	6: 3,377,264		probably benign	Het
Sec14l5	A	T	16: 5,180,706	T537S	probably damaging	Het
Serpinb9d	A	G	13: 33,195,966	E96G	probably damaging	Het
Setd4	T	C	16: 93,591,118	E160G	probably damaging	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Slc16a4	A	G	3: 107,301,097	I308V	possibly damaging	Het
Slco2b1	T	A	7: 99,690,437	N100Y	probably damaging	Het
Sptbn1	A	T	11: 30,121,545	S1475R	probably benign	Het
Tecta	T	C	9: 42,366,804	D1136G	probably benign	Het
Tmem94	G	C	11: 115,788,717	R273S	probably damaging	Het
Tns3	A	G	11: 8,445,730	S1225P	possibly damaging	Het
Ugt2b36	A	G	5: 87,091,975	Y184H	probably benign	Het
Vmn2r59	A	T	7: 42,012,726	M555K	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
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
R9787:Cyp2b9	UTSW	7	26200834	missense	probably benign	0.04
Z1177:Cyp2b9	UTSW	7	26201163	missense	probably benign	0.31

Predicted Primers

Posted On

2013-04-24