Mutagenetix > Incidental Mutation

Incidental Mutation 'R4615:Cyp2b9'

345022

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b9

Ensembl Gene

ENSMUSG00000040660

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 9

Synonyms

phenobarbitol inducible, type a, Cyp2b

MMRRC Submission

041826-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4615 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25872836-25910086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25900550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 396 (L396Q)

Ref Sequence

ENSEMBL: ENSMUSP00000080846 (fasta)

Gene Model

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

AlphaFold

P12790

Predicted Effect

probably damaging
Transcript: ENSMUST00000082214
AA Change: L396Q

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

SMART Domains

Protein: ENSMUSP00000080846
Gene: ENSMUSG00000040660
AA Change: L396Q

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,369,493 (GRCm39)	I363V	probably benign	Het
Abcc9	C	G	6: 142,634,833 (GRCm39)	A144P	possibly damaging	Het
Adgrv1	C	T	13: 81,642,688 (GRCm39)		probably null	Het
Adprhl1	A	G	8: 13,292,250 (GRCm39)		probably null	Het
Angptl3	A	T	4: 98,919,598 (GRCm39)	E119D	probably benign	Het
Atp8b1	T	C	18: 64,686,170 (GRCm39)	N671S	probably null	Het
C9	A	G	15: 6,520,944 (GRCm39)	D51G	probably damaging	Het
Carmil2	A	G	8: 106,421,706 (GRCm39)	D1019G	possibly damaging	Het
Cdh8	A	T	8: 100,006,254 (GRCm39)	I111K	probably damaging	Het
Cep120	T	C	18: 53,847,913 (GRCm39)	R649G	probably damaging	Het
Clptm1l	A	T	13: 73,755,857 (GRCm39)	K158*	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnga1	A	C	5: 72,762,117 (GRCm39)	L466V	probably damaging	Het
Cpsf1	T	C	15: 76,481,137 (GRCm39)	T1240A	possibly damaging	Het
Cubn	A	G	2: 13,433,560 (GRCm39)	S1117P	probably damaging	Het
Cyp8b1	A	T	9: 121,745,164 (GRCm39)	L56*	probably null	Het
Dcbld2	A	G	16: 58,276,457 (GRCm39)	T458A	probably benign	Het
Dio2	G	T	12: 90,696,595 (GRCm39)	P131Q	probably damaging	Het
Dlg5	T	C	14: 24,208,236 (GRCm39)	Y990C	probably damaging	Het
Dsc3	T	C	18: 20,104,545 (GRCm39)	D594G	possibly damaging	Het
Dsp	A	G	13: 38,375,608 (GRCm39)	E1131G	probably damaging	Het
Fdx1	A	T	9: 51,859,945 (GRCm39)	Y21*	probably null	Het
Gal3st4	A	G	5: 138,264,525 (GRCm39)	V158A	probably damaging	Het
Gm10269	T	A	18: 20,815,820 (GRCm39)	E67D	probably benign	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Gng2	C	T	14: 19,941,395 (GRCm39)	V16I	possibly damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Itprid2	A	G	2: 79,492,726 (GRCm39)	E1091G	probably damaging	Het
Lama2	C	A	10: 26,857,520 (GRCm39)	V3110F	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Ncapg	A	T	5: 45,844,741 (GRCm39)	M579L	probably benign	Het
Oog3	A	T	4: 143,884,899 (GRCm39)	Y346N	probably benign	Het
Or10ak14	T	C	4: 118,611,334 (GRCm39)	T134A	probably benign	Het
Or14c39	T	C	7: 86,343,936 (GRCm39)	S91P	probably damaging	Het
Orm2	A	G	4: 63,281,536 (GRCm39)	D89G	probably damaging	Het
Pcdhb4	T	A	18: 37,441,553 (GRCm39)	S288T	probably benign	Het
Pcsk2	G	T	2: 143,637,889 (GRCm39)	C375F	probably damaging	Het
Pdcd10	T	C	3: 75,428,398 (GRCm39)	I138M	probably damaging	Het
Pde8a	T	C	7: 80,970,485 (GRCm39)	W536R	probably damaging	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Plcl1	A	T	1: 55,737,293 (GRCm39)	N878I	probably benign	Het
Prkdc	A	T	16: 15,480,938 (GRCm39)	D353V	probably damaging	Het
Psme4	C	T	11: 30,784,287 (GRCm39)	T954I	probably benign	Het
Ran	A	G	5: 129,099,162 (GRCm39)	I115V	probably benign	Het
Reln	A	G	5: 22,177,870 (GRCm39)	L1867P	possibly damaging	Het
S100a1	A	G	3: 90,418,562 (GRCm39)	V84A	possibly damaging	Het
Sall2	G	A	14: 52,550,207 (GRCm39)	P994L	probably benign	Het
Shtn1	A	T	19: 59,010,648 (GRCm39)	I273N	probably benign	Het
Slc17a9	T	C	2: 180,373,699 (GRCm39)	I40T	probably benign	Het
Slc29a2	T	C	19: 5,079,292 (GRCm39)	V305A	probably damaging	Het
Taar2	T	A	10: 23,817,263 (GRCm39)	F268I	probably benign	Het
Taf3	G	A	2: 9,956,901 (GRCm39)	T422I	probably damaging	Het
Tgs1	T	C	4: 3,585,156 (GRCm39)	F99L	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Ttn	A	G	2: 76,597,219 (GRCm39)	I19898T	probably damaging	Het
Ulk1	G	T	5: 110,936,912 (GRCm39)	T3N	probably damaging	Het
Vars1	A	T	17: 35,232,857 (GRCm39)	K900N	probably damaging	Het
Vmn2r15	A	G	5: 109,441,348 (GRCm39)	V170A	possibly damaging	Het
Vmn2r53	A	T	7: 12,316,229 (GRCm39)	L530Q	probably damaging	Het
Zar1l	G	T	5: 150,441,528 (GRCm39)	Q33K	probably benign	Het
Zdhhc16	T	C	19: 41,932,122 (GRCm39)	V358A	possibly damaging	Het

Other mutations in Cyp2b9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Cyp2b9	APN	7	25,897,930 (GRCm39)	missense	probably damaging	0.99
IGL01133:Cyp2b9	APN	7	25,909,660 (GRCm39)	missense	probably damaging	1.00
IGL01331:Cyp2b9	APN	7	25,887,140 (GRCm39)	missense	probably damaging	0.99
IGL02281:Cyp2b9	APN	7	25,900,529 (GRCm39)	missense	probably damaging	0.99
IGL02502:Cyp2b9	APN	7	25,887,239 (GRCm39)	critical splice donor site	probably null
IGL02713:Cyp2b9	APN	7	25,872,945 (GRCm39)	missense	probably benign	0.12
IGL03032:Cyp2b9	APN	7	25,898,025 (GRCm39)	splice site	probably benign
IGL03307:Cyp2b9	APN	7	25,898,476 (GRCm39)	missense	probably benign	0.00
R0010:Cyp2b9	UTSW	7	25,886,178 (GRCm39)	splice site	probably benign
R0025:Cyp2b9	UTSW	7	25,900,238 (GRCm39)	missense	probably benign	0.09
R0040:Cyp2b9	UTSW	7	25,872,899 (GRCm39)	missense	possibly damaging	0.68
R0184:Cyp2b9	UTSW	7	25,886,432 (GRCm39)	nonsense	probably null
R0370:Cyp2b9	UTSW	7	25,909,531 (GRCm39)	missense	probably damaging	1.00
R1595:Cyp2b9	UTSW	7	25,900,332 (GRCm39)	missense	possibly damaging	0.72
R1751:Cyp2b9	UTSW	7	25,886,100 (GRCm39)	missense	probably benign	0.05
R1835:Cyp2b9	UTSW	7	25,900,208 (GRCm39)	missense	probably benign
R1879:Cyp2b9	UTSW	7	25,897,994 (GRCm39)	missense	probably damaging	0.99
R2256:Cyp2b9	UTSW	7	25,873,030 (GRCm39)	critical splice donor site	probably null
R2257:Cyp2b9	UTSW	7	25,873,030 (GRCm39)	critical splice donor site	probably null
R2418:Cyp2b9	UTSW	7	25,886,132 (GRCm39)	missense	probably benign	0.00
R3420:Cyp2b9	UTSW	7	25,909,528 (GRCm39)	missense	probably damaging	1.00
R4088:Cyp2b9	UTSW	7	25,872,881 (GRCm39)	missense	probably damaging	0.99
R4412:Cyp2b9	UTSW	7	25,897,868 (GRCm39)	missense	probably damaging	1.00
R4495:Cyp2b9	UTSW	7	25,900,180 (GRCm39)	missense	probably benign	0.00
R5375:Cyp2b9	UTSW	7	25,887,167 (GRCm39)	missense	probably damaging	1.00
R5426:Cyp2b9	UTSW	7	25,887,080 (GRCm39)	missense	probably benign
R5862:Cyp2b9	UTSW	7	25,887,232 (GRCm39)	missense	probably benign	0.01
R6237:Cyp2b9	UTSW	7	25,872,999 (GRCm39)	missense	probably benign	0.02
R6445:Cyp2b9	UTSW	7	25,886,412 (GRCm39)	missense	probably benign	0.13
R6992:Cyp2b9	UTSW	7	25,900,564 (GRCm39)	missense	probably benign	0.00
R7515:Cyp2b9	UTSW	7	25,898,596 (GRCm39)	missense	probably damaging	1.00
R7654:Cyp2b9	UTSW	7	25,886,367 (GRCm39)	missense	possibly damaging	0.72
R7816:Cyp2b9	UTSW	7	25,900,517 (GRCm39)	missense	probably benign	0.01
R7850:Cyp2b9	UTSW	7	25,886,111 (GRCm39)	nonsense	probably null
R8734:Cyp2b9	UTSW	7	25,898,035 (GRCm39)	intron	probably benign
R8790:Cyp2b9	UTSW	7	25,898,167 (GRCm39)	intron	probably benign
R8839:Cyp2b9	UTSW	7	25,900,185 (GRCm39)	missense	probably damaging	0.96
R9209:Cyp2b9	UTSW	7	25,873,004 (GRCm39)	missense	possibly damaging	0.52
R9723:Cyp2b9	UTSW	7	25,909,596 (GRCm39)	nonsense	probably null
R9787:Cyp2b9	UTSW	7	25,900,259 (GRCm39)	missense	probably benign	0.04
Z1177:Cyp2b9	UTSW	7	25,900,588 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- ACTACTCCATGAGCACACTATG -3'
(R):5'- GGATTGTTCAGCAAGGCAGC -3'

Sequencing Primer
(F):5'- GCTTCTAATCACCAAGCTCATCTGG -3'
(R):5'- TCAGTAAACAGGGACCTATTGCTG -3'

Posted On

2015-09-25