Mutagenetix > Incidental Mutation

Incidental Mutation 'R9574:Cyp2b19'

722190

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: 0.061) question?

Stock #

R9574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26456567-26472055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26466353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 385 (K385N)

Ref Sequence

ENSEMBL: ENSMUSP00000077021 (fasta)

Gene Model

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

AlphaFold

O55071

Predicted Effect

probably null
Transcript: ENSMUST00000077855
AA Change: K385N

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

SMART Domains

Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: K385N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,496 (GRCm39)	E697V	probably damaging	Het
Actn4	T	C	7: 28,594,864 (GRCm39)	D805G	probably benign	Het
Adam2	C	T	14: 66,275,071 (GRCm39)	S554N	probably benign	Het
Adra2b	A	G	2: 127,206,283 (GRCm39)	T267A	probably benign	Het
Apobec4	A	T	1: 152,632,415 (GRCm39)	T148S	probably damaging	Het
B4galt1	T	A	4: 40,853,766 (GRCm39)	M14L	probably benign	Het
Bok	C	A	1: 93,616,947 (GRCm39)	Q98K	probably benign	Het
Cacnb4	A	T	2: 52,327,016 (GRCm39)	L394Q	probably damaging	Het
Ccar2	T	C	14: 70,381,105 (GRCm39)	K287E	probably benign	Het
Cdyl2	T	A	8: 117,350,669 (GRCm39)	E154V	probably benign	Het
Cenpn	T	G	8: 117,660,149 (GRCm39)	Y160D	probably damaging	Het
Cfap20	T	C	8: 96,149,514 (GRCm39)	Y58C	probably benign	Het
Creb5	T	A	6: 53,658,039 (GRCm39)	L123Q	unknown	Het
Cspg4	G	A	9: 56,797,342 (GRCm39)	V1269M	probably damaging	Het
Ercc2	C	A	7: 19,124,060 (GRCm39)	D422E	probably benign	Het
Fbxl12	A	G	9: 20,550,109 (GRCm39)	V129A	possibly damaging	Het
Fbxo11	T	C	17: 88,321,951 (GRCm39)	E84G		Het
Fmn1	T	C	2: 113,425,402 (GRCm39)	L1192S	probably damaging	Het
Galk2	T	C	2: 125,824,979 (GRCm39)	F392L	probably benign	Het
Gas2l3	G	A	10: 89,258,135 (GRCm39)	H153Y	probably damaging	Het
Gcn1	A	T	5: 115,713,341 (GRCm39)	K101N	possibly damaging	Het
Gmfg	C	T	7: 28,145,359 (GRCm39)	Q101*	probably null	Het
Gpr108	C	T	17: 57,545,039 (GRCm39)	C309Y	probably damaging	Het
H3c8	T	C	13: 23,719,761 (GRCm39)	L49P	probably damaging	Het
Hscb	A	T	5: 110,982,595 (GRCm39)	I164N	probably damaging	Het
Kifc2	T	C	15: 76,546,397 (GRCm39)	W260R	probably damaging	Het
Lrp6	T	A	6: 134,447,662 (GRCm39)	D995V	possibly damaging	Het
Lrrc1	T	A	9: 77,358,708 (GRCm39)	I308F	probably damaging	Het
Map7	C	T	10: 20,153,966 (GRCm39)	A694V	unknown	Het
Mapre2	A	G	18: 23,965,993 (GRCm39)	D68G	probably benign	Het
Mertk	A	T	2: 128,593,880 (GRCm39)	I295F	probably benign	Het
Mst1	T	A	9: 107,962,053 (GRCm39)	C690*	probably null	Het
Nde1	A	G	16: 13,988,345 (GRCm39)	E76G	probably damaging	Het
Nek5	T	C	8: 22,564,040 (GRCm39)	T597A	probably benign	Het
Nup210l	T	C	3: 90,117,693 (GRCm39)	F1800L	probably benign	Het
Or5c1	A	G	2: 37,222,148 (GRCm39)	I130V	possibly damaging	Het
Pdpn	T	A	4: 142,997,101 (GRCm39)	D131V	probably benign	Het
Pgap6	T	C	17: 26,337,861 (GRCm39)	V415A	probably damaging	Het
Pot1a	T	C	6: 25,775,718 (GRCm39)	T118A	possibly damaging	Het
Prom1	A	G	5: 44,158,179 (GRCm39)	I843T	probably benign	Het
Prrt3	T	C	6: 113,474,587 (GRCm39)	T212A	probably benign	Het
Rabgap1	A	G	2: 37,433,246 (GRCm39)		probably null	Het
Rarb	A	T	14: 16,574,858 (GRCm38)	S53T	probably damaging	Het
Rnft2	A	G	5: 118,375,330 (GRCm39)	S140P	probably benign	Het
Rxfp1	T	C	3: 79,563,581 (GRCm39)	M362V	probably benign	Het
Sall2	G	A	14: 52,551,617 (GRCm39)	T526M	probably damaging	Het
Scube1	T	C	15: 83,501,000 (GRCm39)	D598G		Het
Sema3f	T	A	9: 107,566,972 (GRCm39)	I186F	possibly damaging	Het
Shank2	A	G	7: 143,622,462 (GRCm39)	T199A	possibly damaging	Het
Sipa1l2	T	A	8: 126,169,453 (GRCm39)	M1427L	probably benign	Het
Sis	C	T	3: 72,828,490 (GRCm39)	G1195D	probably benign	Het
Slc25a39	A	T	11: 102,295,390 (GRCm39)	H193Q	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Srgn	A	C	10: 62,343,444 (GRCm39)	L17R	probably damaging	Het
Stard5	A	G	7: 83,281,944 (GRCm39)	N34D	probably benign	Het
Syt8	A	T	7: 141,993,203 (GRCm39)	D220V	probably damaging	Het
Tex15	A	G	8: 34,064,509 (GRCm39)	E1313G	probably benign	Het
Tmem131l	T	C	3: 83,868,911 (GRCm39)	R155G	probably damaging	Het
Tmem220	T	C	11: 66,916,093 (GRCm39)	V30A	probably damaging	Het
Tollip	A	G	7: 141,445,731 (GRCm39)	I119T	probably damaging	Het
Treml4	G	A	17: 48,571,672 (GRCm39)	G25D	probably damaging	Het
Trim7	T	C	11: 48,728,460 (GRCm39)	F36S	probably damaging	Het
Txnrd3	T	A	6: 89,640,166 (GRCm39)	C293*	probably null	Het
Utp14b	A	G	1: 78,643,482 (GRCm39)	D460G	probably benign	Het
Vmn2r41	T	A	7: 8,153,329 (GRCm39)	N397Y	probably benign	Het
Vmn2r67	T	C	7: 84,786,017 (GRCm39)	I663V	probably benign	Het
Zfp292	T	A	4: 34,839,460 (GRCm39)	H135L	probably damaging	Het
Zfp420	C	T	7: 29,575,480 (GRCm39)	R567*	probably null	Het
Zfp518b	C	T	5: 38,830,773 (GRCm39)	V411M	probably benign	Het
Zfp638	T	A	6: 83,956,680 (GRCm39)	D1762E	probably damaging	Het
Zfp691	T	A	4: 119,028,230 (GRCm39)	M1L	possibly damaging	Het

Other mutations in Cyp2b19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Cyp2b19	APN	7	26,462,886 (GRCm39)	missense	possibly damaging	0.91
IGL01338:Cyp2b19	APN	7	26,458,842 (GRCm39)	missense	probably benign	0.09
IGL01374:Cyp2b19	APN	7	26,458,504 (GRCm39)	missense	probably benign	0.06
IGL01613:Cyp2b19	APN	7	26,462,886 (GRCm39)	missense	possibly damaging	0.91
IGL01695:Cyp2b19	APN	7	26,458,489 (GRCm39)	missense	probably damaging	1.00
IGL02322:Cyp2b19	APN	7	26,461,803 (GRCm39)	missense	possibly damaging	0.79
IGL03077:Cyp2b19	APN	7	26,461,809 (GRCm39)	missense	probably benign
R0047:Cyp2b19	UTSW	7	26,466,251 (GRCm39)	missense	probably benign	0.01
R0047:Cyp2b19	UTSW	7	26,466,251 (GRCm39)	missense	probably benign	0.01
R0452:Cyp2b19	UTSW	7	26,466,187 (GRCm39)	missense	probably benign	0.01
R0865:Cyp2b19	UTSW	7	26,461,654 (GRCm39)	splice site	probably benign
R1514:Cyp2b19	UTSW	7	26,466,585 (GRCm39)	missense	probably benign	0.00
R1681:Cyp2b19	UTSW	7	26,462,765 (GRCm39)	splice site	probably null
R2362:Cyp2b19	UTSW	7	26,463,802 (GRCm39)	missense	probably damaging	1.00
R4015:Cyp2b19	UTSW	7	26,461,768 (GRCm39)	missense	probably damaging	1.00
R4259:Cyp2b19	UTSW	7	26,462,807 (GRCm39)	missense	probably damaging	1.00
R4592:Cyp2b19	UTSW	7	26,470,819 (GRCm39)	missense	probably benign	0.04
R4705:Cyp2b19	UTSW	7	26,456,717 (GRCm39)	missense	probably benign	0.03
R4789:Cyp2b19	UTSW	7	26,463,801 (GRCm39)	missense	probably benign	0.16
R5481:Cyp2b19	UTSW	7	26,466,246 (GRCm39)	missense	probably damaging	0.99
R5749:Cyp2b19	UTSW	7	26,462,844 (GRCm39)	missense	possibly damaging	0.84
R6041:Cyp2b19	UTSW	7	26,458,852 (GRCm39)	missense	probably damaging	1.00
R6170:Cyp2b19	UTSW	7	26,458,519 (GRCm39)	missense	possibly damaging	0.80
R6259:Cyp2b19	UTSW	7	26,470,817 (GRCm39)	missense	possibly damaging	0.91
R6370:Cyp2b19	UTSW	7	26,462,783 (GRCm39)	missense	probably benign	0.07
R6519:Cyp2b19	UTSW	7	26,458,536 (GRCm39)	missense	probably benign
R6656:Cyp2b19	UTSW	7	26,466,280 (GRCm39)	missense	probably benign
R7283:Cyp2b19	UTSW	7	26,466,339 (GRCm39)	missense	probably damaging	1.00
R7583:Cyp2b19	UTSW	7	26,458,489 (GRCm39)	missense	probably damaging	1.00
R7686:Cyp2b19	UTSW	7	26,461,768 (GRCm39)	missense	probably damaging	1.00
R7732:Cyp2b19	UTSW	7	26,470,769 (GRCm39)	missense	possibly damaging	0.67
R7831:Cyp2b19	UTSW	7	26,466,565 (GRCm39)	missense	possibly damaging	0.80
R8035:Cyp2b19	UTSW	7	26,470,675 (GRCm39)	missense	probably damaging	1.00
R8853:Cyp2b19	UTSW	7	26,456,645 (GRCm39)	missense	possibly damaging	0.53
R9574:Cyp2b19	UTSW	7	26,466,352 (GRCm39)	missense	probably damaging	1.00
R9650:Cyp2b19	UTSW	7	26,466,208 (GRCm39)	missense	possibly damaging	0.85
R9681:Cyp2b19	UTSW	7	26,466,328 (GRCm39)	missense	probably benign	0.00

Predicted Primers

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

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

Posted On

2022-08-09