Mutagenetix > Incidental Mutations

Incidental Mutation 'R2362:Cyp2b19'

247180

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b19

Ensembl Gene

ENSMUSG00000066704

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 19

Synonyms

MMRRC Submission

040343-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26757142-26772630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26764377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 318 (Y318C)

Ref Sequence

ENSEMBL: ENSMUSP00000077021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077855]

AlphaFold

O55071

Predicted Effect

probably damaging
Transcript: ENSMUST00000077855
AA Change: Y318C

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

SMART Domains

Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: Y318C

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:p450	32	489	8.7e-151	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138018

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	A	T	6: 132,627,479	M1K	probably null	Het
Aadat	A	G	8: 60,532,298		probably benign	Het
Acsm5	T	C	7: 119,528,426		probably benign	Het
Avl9	A	T	6: 56,736,570	N271I	probably benign	Het
Ccdc30	T	A	4: 119,324,056	N636I	probably damaging	Het
Cdr2	T	G	7: 120,970,331	I62L	possibly damaging	Het
Clk3	T	C	9: 57,754,619	I382V	possibly damaging	Het
Ctsr	T	A	13: 61,162,796	E45V	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dapk1	A	G	13: 60,730,931	N578S	probably damaging	Het
Dlg5	A	T	14: 24,158,687	M817K	probably benign	Het
Dtx4	A	G	19: 12,492,535	V76A	probably damaging	Het
Eps15	T	C	4: 109,361,230	V430A	probably benign	Het
Fam160b2	A	G	14: 70,586,365	Y568H	probably benign	Het
Fxyd5	T	C	7: 31,036,471	N104S	probably benign	Het
Gm5155	T	G	7: 17,902,473		noncoding transcript	Het
Ift122	A	G	6: 115,884,350	D193G	probably damaging	Het
Lrrcc1	A	G	3: 14,563,024	E542G	probably damaging	Het
Macc1	T	C	12: 119,447,658		probably benign	Het
Ndst3	T	A	3: 123,552,678	Y234F	possibly damaging	Het
Olfr1477	A	T	19: 13,502,508	H55L	probably damaging	Het
Pes1	T	C	11: 3,977,123	F429S	probably damaging	Het
Polr3e	C	G	7: 120,942,564	D623E	probably damaging	Het
Rapgef6	T	C	11: 54,694,272	Y1494H	probably damaging	Het
Rbm14	T	C	19: 4,801,707		probably benign	Het
Rnf103	A	G	6: 71,510,017	D544G	probably benign	Het
Slc10a7	A	G	8: 78,509,632	I20V	probably damaging	Het
Sort1	C	T	3: 108,346,665	T549I	possibly damaging	Het
Stambpl1	G	A	19: 34,236,354	V328I	probably benign	Het
Thbd	A	G	2: 148,406,364	L528P	probably damaging	Het
Wbp11	A	T	6: 136,824,332	M63K	probably damaging	Het
Wdr11	T	A	7: 129,634,836	I1178N	probably benign	Het

Other mutations in Cyp2b19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Cyp2b19	APN	7	26763461	missense	possibly damaging	0.91
IGL01338:Cyp2b19	APN	7	26759417	missense	probably benign	0.09
IGL01374:Cyp2b19	APN	7	26759079	missense	probably benign	0.06
IGL01613:Cyp2b19	APN	7	26763461	missense	possibly damaging	0.91
IGL01695:Cyp2b19	APN	7	26759064	missense	probably damaging	1.00
IGL02322:Cyp2b19	APN	7	26762378	missense	possibly damaging	0.79
IGL03077:Cyp2b19	APN	7	26762384	missense	probably benign
R0047:Cyp2b19	UTSW	7	26766826	missense	probably benign	0.01
R0047:Cyp2b19	UTSW	7	26766826	missense	probably benign	0.01
R0452:Cyp2b19	UTSW	7	26766762	missense	probably benign	0.01
R0865:Cyp2b19	UTSW	7	26762229	splice site	probably benign
R1514:Cyp2b19	UTSW	7	26767160	missense	probably benign	0.00
R1681:Cyp2b19	UTSW	7	26763340	splice site	probably null
R4015:Cyp2b19	UTSW	7	26762343	missense	probably damaging	1.00
R4259:Cyp2b19	UTSW	7	26763382	missense	probably damaging	1.00
R4592:Cyp2b19	UTSW	7	26771394	missense	probably benign	0.04
R4705:Cyp2b19	UTSW	7	26757292	missense	probably benign	0.03
R4789:Cyp2b19	UTSW	7	26764376	missense	probably benign	0.16
R5481:Cyp2b19	UTSW	7	26766821	missense	probably damaging	0.99
R5749:Cyp2b19	UTSW	7	26763419	missense	possibly damaging	0.84
R6041:Cyp2b19	UTSW	7	26759427	missense	probably damaging	1.00
R6170:Cyp2b19	UTSW	7	26759094	missense	possibly damaging	0.80
R6259:Cyp2b19	UTSW	7	26771392	missense	possibly damaging	0.91
R6370:Cyp2b19	UTSW	7	26763358	missense	probably benign	0.07
R6519:Cyp2b19	UTSW	7	26759111	missense	probably benign
R6656:Cyp2b19	UTSW	7	26766855	missense	probably benign
R7283:Cyp2b19	UTSW	7	26766914	missense	probably damaging	1.00
R7583:Cyp2b19	UTSW	7	26759064	missense	probably damaging	1.00
R7686:Cyp2b19	UTSW	7	26762343	missense	probably damaging	1.00
R7732:Cyp2b19	UTSW	7	26771344	missense	possibly damaging	0.67
R7831:Cyp2b19	UTSW	7	26767140	missense	possibly damaging	0.80
R8035:Cyp2b19	UTSW	7	26771250	missense	probably damaging	1.00
R8853:Cyp2b19	UTSW	7	26757220	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CGCACAGTGACTAGAAAGGC -3'
(R):5'- CAGAAAACAAGTCAGCTGATTGC -3'

Sequencing Primer
(F):5'- GAAAGGCTCATGTTTCTCACTGCAAG -3'
(R):5'- GCTGATTGCTCATTCACATACCAC -3'

Posted On

2014-10-30