Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Cyp2b19'

565797

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

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7283 (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 26766914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 381 (Y381H)

Ref Sequence

ENSEMBL: ENSMUSP00000077021 (fasta)

Gene Model

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

AlphaFold

O55071

Predicted Effect

probably damaging
Transcript: ENSMUST00000077855
AA Change: Y381H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: Y381H

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Ipo8	T	A	6: 148,824,481	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	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
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
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	probably damaging	1.00
R9574:Cyp2b19	UTSW	7	26766928	missense	probably null	1.00
R9650:Cyp2b19	UTSW	7	26766783	missense	possibly damaging	0.85
R9681:Cyp2b19	UTSW	7	26766903	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCATCACCTCCAAGAAGGG -3'
(R):5'- AACTCAGGATGGGGTACACC -3'

Sequencing Primer
(F):5'- CCAAGAAGGGGATACTGTCTATTATC -3'
(R):5'- CACCTCAGTGTTCTAGGAGAC -3'

Posted On

2019-06-26