Mutagenetix > Incidental Mutation

Incidental Mutation 'R0025:Cyp2b9'

40774

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

038320-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R0025 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

26173411-26210661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26200813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 349 (T349S)

Ref Sequence

ENSEMBL: ENSMUSP00000080846 (fasta)

Gene Model

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

AlphaFold

P12790

Predicted Effect

probably benign
Transcript: ENSMUST00000082214
AA Change: T349S

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: T349S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

98% (115/117)

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	11: 76,000,115		probably benign	Het
Acsm1	A	T	7: 119,658,315	T435S	probably damaging	Het
Agtpbp1	G	A	13: 59,500,200	T602I	probably benign	Het
Ahnak2	T	A	12: 112,785,534	D231V	probably damaging	Het
Ampd3	G	A	7: 110,793,669	D215N	probably benign	Het
Ankrd17	T	C	5: 90,250,405	D1762G	probably damaging	Het
Asb8	C	T	15: 98,142,671	V37I	possibly damaging	Het
Bicra	T	C	7: 15,987,511	T694A	possibly damaging	Het
Btnl6	A	T	17: 34,514,299	M234K	probably benign	Het
Ccnb1	A	T	13: 100,779,781	V336D	probably damaging	Het
Cdca8	A	T	4: 124,921,254	L190Q	possibly damaging	Het
Cep290	A	T	10: 100,537,831	L1324F	probably damaging	Het
Ces1f	T	C	8: 93,271,885	E161G	probably benign	Het
Ces2g	A	G	8: 104,965,996		probably benign	Het
Cfap74	C	T	4: 155,426,115	R386C	probably benign	Het
Clec3b	A	G	9: 123,157,025	T163A	probably benign	Het
Cntnap4	T	G	8: 112,803,164	L668R	probably damaging	Het
Col27a1	A	G	4: 63,275,977	D857G	probably damaging	Het
Csf1	A	G	3: 107,748,644	V245A	probably benign	Het
Ctss	A	G	3: 95,550,137	Y302C	probably damaging	Het
Cyb5d1	A	G	11: 69,394,966		probably null	Het
Cyp1a2	A	G	9: 57,682,061	S157P	probably damaging	Het
Dennd6b	T	C	15: 89,186,183	I428V	probably benign	Het
Denr	A	G	5: 123,927,235		probably benign	Het
Dnah9	G	A	11: 65,969,955		probably benign	Het
Dock3	G	T	9: 106,913,268	Q1419K	possibly damaging	Het
Dph3b-ps	A	T	13: 106,546,867		noncoding transcript	Het
Emc7	G	T	2: 112,459,485	D87Y	probably damaging	Het
Enah	T	C	1: 181,913,373	E462G	possibly damaging	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Enpp6	A	G	8: 47,066,000	K268E	probably damaging	Het
Eps15l1	T	G	8: 72,381,497		probably benign	Het
Fam151a	T	C	4: 106,748,174	Y578H	probably benign	Het
Fmn2	T	C	1: 174,791,314	V1512A	probably damaging	Het
Focad	C	A	4: 88,408,959	N168K	probably benign	Het
Fyco1	A	G	9: 123,829,009	C701R	probably damaging	Het
Gabbr1	G	T	17: 37,067,210		probably benign	Het
Golga7b	A	T	19: 42,266,839	E76V	probably damaging	Het
Gucy2d	A	G	7: 98,467,752	D924G	probably benign	Het
H2-M9	A	G	17: 36,641,755	F133S	probably damaging	Het
Hc	A	G	2: 34,986,292	Y1581H	probably damaging	Het
Herc3	C	T	6: 58,874,308	P514L	probably damaging	Het
Hormad1	T	C	3: 95,585,125		probably benign	Het
Iigp1	T	A	18: 60,390,787	S326T	possibly damaging	Het
Itga2	G	A	13: 114,870,496	S432L	possibly damaging	Het
Kcnk7	T	G	19: 5,707,014	*344G	probably null	Het
Kif13a	A	G	13: 46,786,511		probably null	Het
Kif1a	A	C	1: 93,042,358	I1027S	probably damaging	Het
Kif2c	G	T	4: 117,165,517	H416Q	probably damaging	Het
Map3k1	A	G	13: 111,756,129	V864A	probably benign	Het
Mark2	T	C	19: 7,285,922	D160G	probably damaging	Het
Mbd4	A	G	6: 115,844,568		probably null	Het
Micu1	A	G	10: 59,788,877		probably null	Het
Mink1	T	C	11: 70,613,042	W1263R	probably damaging	Het
Mov10	A	C	3: 104,804,603	L224R	probably damaging	Het
Ndel1	T	C	11: 68,836,173	E226G	probably damaging	Het
Neb	A	T	2: 52,222,774	V4336E	probably damaging	Het
Nln	T	A	13: 104,036,891	K602N	probably damaging	Het
Nlrp14	A	T	7: 107,181,258		probably benign	Het
Nmd3	A	T	3: 69,748,321	D445V	probably damaging	Het
Nop14	T	C	5: 34,643,953	I625V	probably benign	Het
Notch1	T	C	2: 26,470,931	Q1134R	probably damaging	Het
Nr4a2	T	C	2: 57,108,615	I392M	probably benign	Het
Olfr1310	T	A	2: 112,009,020	L55F	probably damaging	Het
Olfr702	A	G	7: 106,823,756	F257L	possibly damaging	Het
Olfr983	A	G	9: 40,092,253	S234P	probably damaging	Het
Osbp	T	C	19: 11,983,958	Y454H	probably damaging	Het
Pak4	G	A	7: 28,564,283	R343C	probably damaging	Het
Pak7	T	C	2: 136,100,784	K479E	possibly damaging	Het
Pard3	C	A	8: 127,161,308	D73E	probably damaging	Het
Pcdh10	T	C	3: 45,380,499	V416A	possibly damaging	Het
Plek	A	C	11: 16,985,594	W261G	probably damaging	Het
Pmp22	A	T	11: 63,158,250		probably null	Het
Prph2	A	C	17: 46,919,771	K197Q	probably benign	Het
Prss45	T	A	9: 110,840,894	L257Q	probably damaging	Het
Psmb6	C	A	11: 70,526,345	H73Q	probably benign	Het
Rin2	T	C	2: 145,878,832		probably benign	Het
Rps6kb1	A	T	11: 86,511,587		probably null	Het
Scn10a	C	A	9: 119,670,484	D248Y	probably damaging	Het
Scn4a	C	T	11: 106,324,560	V1197I	probably benign	Het
Siglecf	A	T	7: 43,351,925	I106F	probably benign	Het
Sik1	A	G	17: 31,847,275		probably benign	Het
Slc22a21	T	G	11: 53,979,688	N57T	probably damaging	Het
Slc36a2	A	G	11: 55,162,795	L339P	probably damaging	Het
Slc4a9	G	T	18: 36,531,666		probably benign	Het
Smg1	G	A	7: 118,212,443	T104I	possibly damaging	Het
Stc2	A	T	11: 31,365,559		probably null	Het
Stx18	T	A	5: 38,092,564	Y74N	probably damaging	Het
Stxbp5	A	T	10: 9,762,748	H1102Q	probably damaging	Het
Tnfaip8l2	G	A	3: 95,140,028	L175F	probably damaging	Het
Tom1l2	T	C	11: 60,230,134	K450E	probably damaging	Het
Tpo	T	C	12: 30,100,390	Q497R	probably benign	Het
Tprgl	G	T	4: 154,160,345		probably benign	Het
Triml2	A	G	8: 43,185,432	M146V	probably benign	Het
Tsc2	A	G	17: 24,631,004		probably benign	Het
Vit	G	A	17: 78,599,835	G229R	probably benign	Het
Vmn2r19	C	T	6: 123,331,547	L528F	probably benign	Het
Vwf	T	A	6: 125,682,812	I2658N	probably benign	Het
Wdfy3	T	C	5: 101,845,046	D3341G	probably damaging	Het
Wdr36	T	A	18: 32,859,307	D632E	probably damaging	Het
Wdr47	G	T	3: 108,637,991	A733S	probably damaging	Het
Zcchc6	A	T	13: 59,805,328	D99E	probably benign	Het
Zfp458	T	A	13: 67,257,898	H156L	probably damaging	Het
Zfp654	A	G	16: 64,784,818	V466A	probably benign	Het
Zfp804b	T	C	5: 6,771,665	E466G	probably damaging	Het
Zfp941	T	C	7: 140,813,272	D58G	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
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

Predicted Primers

PCR Primer
(F):5'- GTGAAAGCCTGCTGAAATGAGGTTG -3'
(R):5'- AGGTCTGTCTCACCTGTGGAGAAG -3'

Sequencing Primer
(F):5'- ACTTAAGAGTGGGACAGTTTCTCAG -3'
(R):5'- CCATTGGCATCTAGAAAGTGCTC -3'

Posted On

2013-05-23