Mutagenetix > Incidental Mutation

Incidental Mutation 'R2120:Cyp2a12'

231375

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a12

Ensembl Gene

ENSMUSG00000060407

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 12

Synonyms

MMRRC Submission

040124-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R2120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27029081-27037375 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 27036646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 493 (*493W)

Ref Sequence

ENSEMBL: ENSMUSP00000074990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075552]

AlphaFold

P56593

Predicted Effect

probably null
Transcript: ENSMUST00000075552
AA Change: *493W

SMART Domains

Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: *493W

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:p450	33	489	7.3e-153	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207016

Meta Mutation Damage Score

0.8636

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,309,013		probably benign	Het
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Actrt2	C	T	4: 154,667,094	R195Q	probably benign	Het
Adamts12	C	T	15: 11,310,579	T974I	probably damaging	Het
Ankrd65	A	G	4: 155,792,073	T239A	probably benign	Het
Ano7	G	T	1: 93,402,133		probably benign	Het
Apc	A	T	18: 34,276,601	E198V	probably damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Atp9a	A	T	2: 168,653,537	V583E	probably damaging	Het
Bicral	C	T	17: 46,824,815	A490T	probably benign	Het
C1rl	C	T	6: 124,508,713	P348S	probably damaging	Het
Cog1	T	C	11: 113,649,598	L13P	probably damaging	Het
Cx3cr1	T	A	9: 120,051,683	T218S	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
E2f4	A	G	8: 105,300,341	Y179C	probably damaging	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Endod1	T	C	9: 14,357,653	N179D	probably benign	Het
Epc2	C	T	2: 49,547,609		probably benign	Het
Ets2	G	T	16: 95,718,933	R401L	probably benign	Het
Fgd4	C	T	16: 16,425,828	C614Y	probably benign	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Frem3	A	T	8: 80,615,457	T1460S	probably benign	Het
H2-M1	T	G	17: 36,670,037	T336P	possibly damaging	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Ipo7	G	T	7: 110,049,631	D704Y	probably damaging	Het
Jaml	T	A	9: 45,101,064	I283N	probably damaging	Het
Jarid2	G	T	13: 44,906,336	M681I	probably benign	Het
Kif4-ps	T	C	12: 101,147,697	L695P	probably damaging	Het
Kmt2d	A	G	15: 98,839,529		probably benign	Het
Krt25	T	C	11: 99,321,197	T205A	probably benign	Het
Lif	T	C	11: 4,269,051	V110A	possibly damaging	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Man2b1	A	G	8: 85,093,024		probably benign	Het
Med16	A	T	10: 79,903,082	M290K	possibly damaging	Het
Mov10l1	C	A	15: 89,007,627	Q562K	probably benign	Het
Msantd2	C	T	9: 37,522,931	R357W	probably damaging	Het
Mtmr6	T	C	14: 60,296,659	F449L	probably damaging	Het
Myt1l	A	T	12: 29,783,619		probably null	Het
Neb	A	G	2: 52,264,064	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr1054	G	A	2: 86,333,345	R4C	probably benign	Het
Olfr1280	A	G	2: 111,315,499	T7A	probably benign	Het
Olfr213	A	T	6: 116,540,455	M1L	probably null	Het
Olfr743	T	C	14: 50,533,946	I178T	probably damaging	Het
Patj	T	A	4: 98,456,225	D591E	probably benign	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Pitpnm2	G	A	5: 124,127,269	P757L	probably damaging	Het
Plcd4	A	G	1: 74,564,425	T662A	probably benign	Het
Podn	C	T	4: 108,023,361	A31T	probably damaging	Het
Prss37	G	A	6: 40,515,360	R186*	probably null	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Pum1	C	A	4: 130,669,270	T112K	possibly damaging	Het
Rab3gap2	A	T	1: 185,261,367	D782V	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Reln	G	A	5: 21,969,085	H2007Y	probably damaging	Het
Rhbdl2	T	A	4: 123,824,919	I222K	probably damaging	Het
Rimbp2	A	G	5: 128,788,518	S582P	probably damaging	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Sars	T	C	3: 108,434,156	I114V	probably benign	Het
Scamp5	C	A	9: 57,447,225	V49F	possibly damaging	Het
Sec14l1	C	T	11: 117,148,532		probably benign	Het
Serpinb8	A	G	1: 107,605,887	E224G	probably damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Srgn	T	A	10: 62,507,634		probably benign	Het
Stk40	C	T	4: 126,128,847	T138I	probably benign	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tada3	T	C	6: 113,371,015	I263V	possibly damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tas2r115	T	A	6: 132,737,507	R160S	possibly damaging	Het
Trak1	T	A	9: 121,472,997	*940R	probably null	Het
Trp53bp2	A	G	1: 182,441,639	M223V	probably benign	Het
Ttc21b	C	T	2: 66,226,754	V625I	probably benign	Het
Txnrd1	T	A	10: 82,887,233	C421S	possibly damaging	Het
Unc45a	T	C	7: 80,340,098	T8A	probably benign	Het
Usp6nl	T	A	2: 6,440,937	V552E	probably damaging	Het
Vmn2r115	T	G	17: 23,359,323	L590R	probably damaging	Het
Vmn2r88	A	T	14: 51,413,208	H126L	probably benign	Het
Vps13c	A	G	9: 67,919,334	D1419G	possibly damaging	Het
Vwa3a	A	G	7: 120,792,418	T776A	probably benign	Het
Zfp580	T	C	7: 5,053,009	Y123H	probably damaging	Het

Other mutations in Cyp2a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Cyp2a12	APN	7	27036611	missense	probably benign	0.00
IGL02306:Cyp2a12	APN	7	27032583	missense	probably damaging	1.00
IGL02667:Cyp2a12	APN	7	27031158	missense	probably damaging	1.00
IGL02943:Cyp2a12	APN	7	27032542	missense	probably benign	0.07
IGL03025:Cyp2a12	APN	7	27031206	missense	probably benign	0.00
IGL03230:Cyp2a12	APN	7	27029592	missense	possibly damaging	0.48
PIT4243001:Cyp2a12	UTSW	7	27034773	missense	probably benign	0.00
PIT4618001:Cyp2a12	UTSW	7	27034773	missense	probably benign	0.00
R0655:Cyp2a12	UTSW	7	27036621	missense	probably benign	0.15
R0659:Cyp2a12	UTSW	7	27034138	missense	probably damaging	1.00
R0743:Cyp2a12	UTSW	7	27032542	missense	probably benign	0.07
R0884:Cyp2a12	UTSW	7	27032542	missense	probably benign	0.07
R2118:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2119:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2121:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2122:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2124:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2144:Cyp2a12	UTSW	7	27034769	missense	possibly damaging	0.95
R2153:Cyp2a12	UTSW	7	27032617	missense	probably benign	0.01
R2171:Cyp2a12	UTSW	7	27029632	missense	probably damaging	1.00
R2182:Cyp2a12	UTSW	7	27031146	missense	probably damaging	1.00
R2297:Cyp2a12	UTSW	7	27034632	missense	possibly damaging	0.92
R4392:Cyp2a12	UTSW	7	27029275	missense	probably damaging	0.98
R4900:Cyp2a12	UTSW	7	27031215	nonsense	probably null
R4960:Cyp2a12	UTSW	7	27034150	missense	probably benign	0.11
R5111:Cyp2a12	UTSW	7	27036621	missense	possibly damaging	0.89
R5143:Cyp2a12	UTSW	7	27036611	missense	probably benign	0.00
R5223:Cyp2a12	UTSW	7	27036463	critical splice acceptor site	probably null
R5268:Cyp2a12	UTSW	7	27031218	missense	probably benign	0.00
R5493:Cyp2a12	UTSW	7	27029125	missense	unknown
R5524:Cyp2a12	UTSW	7	27031231	missense	probably benign	0.00
R5806:Cyp2a12	UTSW	7	27029079	splice site	probably null
R6320:Cyp2a12	UTSW	7	27031152	missense	possibly damaging	0.75
R6823:Cyp2a12	UTSW	7	27034156	missense	possibly damaging	0.77
R7958:Cyp2a12	UTSW	7	27029252	missense	probably benign	0.13
R8093:Cyp2a12	UTSW	7	27036629	missense	probably damaging	0.96
R8191:Cyp2a12	UTSW	7	27031104	missense	probably benign	0.00
R8259:Cyp2a12	UTSW	7	27032658	nonsense	probably null
R9083:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
R9084:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
R9085:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
R9086:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
RF021:Cyp2a12	UTSW	7	27035360	missense	possibly damaging	0.73
Z1088:Cyp2a12	UTSW	7	27035420	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- GATTCTGCTTGGGAGACAGC -3'
(R):5'- CTTGCTGGATGAGTGACAGC -3'

Sequencing Primer
(F):5'- CCTGGCTAAGATGGAGCTGTTCC -3'
(R):5'- ACTGCTGCTCACTGTGTG -3'

Posted On

2014-09-18