Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01331:Cyp2b9'

74498

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL01331

Quality Score

Status

Chromosome

Chromosomal Location

26173411-26210661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26187715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 183 (V183A)

Ref Sequence

ENSEMBL: ENSMUSP00000080846 (fasta)

Gene Model

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

AlphaFold

P12790

Predicted Effect

probably damaging
Transcript: ENSMUST00000082214
AA Change: V183A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: V183A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:p450	31	488	1.7e-146	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clca3a1	G	A	3: 144,747,512	T517M	probably damaging	Het
Clec4g	T	C	8: 3,717,190		probably benign	Het
Cmya5	C	T	13: 93,096,946	E545K	possibly damaging	Het
Cntn6	A	T	6: 104,774,523	D380V	probably damaging	Het
Col9a2	C	T	4: 121,045,192	P209S	possibly damaging	Het
Dpt	T	C	1: 164,796,810	Y27H	unknown	Het
Dusp16	T	C	6: 134,718,104	Q588R	possibly damaging	Het
Dusp27	C	A	1: 166,108,180	V150L	probably damaging	Het
Emg1	A	G	6: 124,705,070	S164P	probably benign	Het
Foxk1	G	A	5: 142,453,589	R428Q	probably damaging	Het
Frmd4a	T	A	2: 4,602,225	M667K	probably benign	Het
Gpr55	T	A	1: 85,941,193		probably benign	Het
Gtpbp8	A	G	16: 44,740,131	I162T	probably benign	Het
Ighv1-59	C	T	12: 115,335,372	V21I	possibly damaging	Het
Ipo11	T	A	13: 106,795,746	Y938F	possibly damaging	Het
Map4	G	T	9: 110,034,801	V365L	probably benign	Het
Mboat1	C	A	13: 30,219,701		probably benign	Het
Med12	A	G	X: 101,280,754	E649G	possibly damaging	Het
Nfkbie	T	C	17: 45,558,569	V150A	probably benign	Het
Olfr1054	A	C	2: 86,332,704	Y217*	probably null	Het
Olfr632	A	G	7: 103,937,575	Y65C	possibly damaging	Het
Prdm1	T	A	10: 44,441,974	K299N	possibly damaging	Het
Ribc1	T	C	X: 152,005,106	T291A	probably benign	Het
Rps6kc1	G	T	1: 190,800,352	N484K	possibly damaging	Het
Serpina3k	C	A	12: 104,343,110	A271D	probably benign	Het
Spata18	G	T	5: 73,669,681	R321L	probably damaging	Het
Syne2	C	A	12: 75,929,253		probably benign	Het
Syt17	T	A	7: 118,408,166	I302F	probably damaging	Het
Tgm6	A	G	2: 130,143,618		probably null	Het
Tmc2	A	G	2: 130,232,356	Y323C	probably damaging	Het
Tnc	T	C	4: 63,982,875	D1452G	probably damaging	Het
Ttn	A	G	2: 76,789,678	I7555T	probably damaging	Het
Ugt2b36	A	T	5: 87,090,942	W131R	probably damaging	Het
Vmn2r75	A	T	7: 86,171,662	C21*	probably null	Het
Zfp592	T	A	7: 81,041,548	C1158*	probably null	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
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
R9787:Cyp2b9	UTSW	7	26200834	missense	probably benign	0.04
Z1177:Cyp2b9	UTSW	7	26201163	missense	probably benign	0.31

Posted On

2013-10-07