Mutagenetix > Incidental Mutation

Incidental Mutation 'R6370:Cyp2b19'

513467

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b19

Ensembl Gene

ENSMUSG00000066704

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 19

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6370 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26757142-26772630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26763358 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 222 (S222P)

Ref Sequence

ENSEMBL: ENSMUSP00000077021 (fasta)

Gene Model

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

AlphaFold

O55071

Predicted Effect

probably benign
Transcript: ENSMUST00000077855
AA Change: S222P

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: S222P

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb6	A	G	2: 30,827,012	V67A	probably damaging	Het
Atic	T	A	1: 71,578,660	F590I	probably damaging	Het
Atxn10	T	C	15: 85,393,385	F351S	probably damaging	Het
Bcl2l13	A	G	6: 120,865,622	N92S	probably benign	Het
Carm1	G	T	9: 21,587,519	A518S	probably benign	Het
Ccar1	C	T	10: 62,764,529	R541H	probably damaging	Het
Cfhr2	A	T	1: 139,822,327	L96Q	probably damaging	Het
Chrnb4	A	G	9: 55,034,859	L377S	probably benign	Het
Clcn3	A	G	8: 60,923,024	Y639H	probably damaging	Het
Cngb1	C	T	8: 95,264,422	M717I	probably benign	Het
Ctcf	T	C	8: 105,664,220	M153T	probably benign	Het
Dixdc1	A	T	9: 50,682,223		probably null	Het
Entpd2	G	A	2: 25,397,417	G47S	probably damaging	Het
Erbb3	A	G	10: 128,570,074	M1158T	possibly damaging	Het
Faah	T	C	4: 116,003,056	D333G	probably damaging	Het
Foxred2	T	A	15: 77,943,306	T618S	probably benign	Het
Gm2381	G	A	7: 42,820,586	A38V	probably benign	Het
Gpx5	A	T	13: 21,288,702		probably null	Het
Gtdc1	A	G	2: 44,756,322	V98A	probably damaging	Het
Hal	T	C	10: 93,497,506	I312T	probably damaging	Het
Krtap21-1	T	C	16: 89,403,631	Y41C	unknown	Het
Larp6	A	G	9: 60,737,363	E262G	probably damaging	Het
Lrrn1	A	G	6: 107,569,224	Y661C	probably damaging	Het
Lsm14a	A	G	7: 34,357,481	V244A	probably benign	Het
Marc1	T	C	1: 184,795,492	D257G	probably damaging	Het
Mfrp	T	C	9: 44,106,261	C517R	probably damaging	Het
Ncoa3	T	C	2: 166,065,905	S1145P	probably benign	Het
Nosip	G	T	7: 45,076,740		probably null	Het
Olfr1186	T	A	2: 88,499,368	C94*	probably null	Het
Olfr568	A	T	7: 102,877,170	T17S	probably benign	Het
Olfr664	T	C	7: 104,733,917	K149R	probably benign	Het
Phykpl	T	C	11: 51,586,716	S112P	probably damaging	Het
Pik3cb	A	T	9: 99,040,934	I1015K	probably damaging	Het
Pomt2	A	G	12: 87,109,199	W818R	probably damaging	Het
Ptpn21	A	T	12: 98,689,034	M558K	possibly damaging	Het
Rnf213	T	A	11: 119,477,078	N4647K	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Homo
Rxrg	T	C	1: 167,634,437	V227A	probably damaging	Het
Satb1	A	T	17: 51,782,797	S341T	possibly damaging	Het
Skint5	T	G	4: 113,614,110	Q983P	unknown	Het
Slc6a18	G	A	13: 73,668,159	T367I	probably benign	Het
Slc7a1	A	G	5: 148,340,673	L344P	probably damaging	Het
Slc7a6	T	A	8: 106,195,437	F399I	probably benign	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Sugt1	T	C	14: 79,610,334	V208A	probably benign	Het
Syt3	A	G	7: 44,395,683	K480E	probably damaging	Het
Thop1	C	T	10: 81,077,983	T186I	probably benign	Het
Trim55	G	A	3: 19,691,486	E509K	possibly damaging	Het
Upf2	A	G	2: 5,976,010	N469S	unknown	Het
Usp24	G	T	4: 106,380,521	K1125N	probably null	Het
Usp5	A	T	6: 124,820,428	D494E	probably benign	Het
Vmn2r51	T	C	7: 10,098,216	K481R	probably damaging	Het
Vps16	C	A	2: 130,443,384	A787D	probably damaging	Het
Washc4	C	T	10: 83,571,362	H488Y	possibly damaging	Het
Wdfy4	C	A	14: 33,068,850	A2053S	probably benign	Het
Zfp74	A	T	7: 29,932,410	D136E	probably damaging	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
R2362:Cyp2b19	UTSW	7	26764377	missense	probably damaging	1.00
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
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
R9574:Cyp2b19	UTSW	7	26766927	missense	not run
R9574:Cyp2b19	UTSW	7	26766928	missense	not run

Predicted Primers

PCR Primer
(F):5'- GGTTAGAGACAATTTGGAACTACAG -3'
(R):5'- GACTAACCTTCTCCATGCGC -3'

Sequencing Primer
(F):5'- CAGTTCAAAAGCATGCATGTGTATGG -3'
(R):5'- TTCTCCATGCGCAGAAGGTAG -3'

Posted On

2018-04-27