Mutagenetix > Incidental Mutation

Incidental Mutation 'R5225:Cyp1a2'

402566

Institutional Source

Beutler Lab

Gene Symbol

Cyp1a2

Ensembl Gene

ENSMUSG00000032310

Gene Name

cytochrome P450, family 1, subfamily a, polypeptide 2

Synonyms

CP12, aromatic compound inducible, P450-3

MMRRC Submission

042798-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R5225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57676937-57683703 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 57677233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 513 (K513*)

Ref Sequence

ENSEMBL: ENSMUSP00000034860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034860]

AlphaFold

P00186

Predicted Effect

probably null
Transcript: ENSMUST00000034860
AA Change: K513*

SMART Domains

Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: K513*

Domain	Start	End	E-Value	Type
Pfam:p450	41	504	1.7e-105	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215792

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display resitance to some signs of TCDD induced toxicity but do not display any gross abnormalities in the abscence of treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,008,007	R465*	probably null	Het
Abcg3	A	T	5: 104,966,783	D289E	probably damaging	Het
Ablim2	G	T	5: 35,866,771		probably null	Het
Acp1	A	T	12: 30,905,079	V36D	probably benign	Het
Adgrb1	T	A	15: 74,577,499		probably benign	Het
Akap6	G	A	12: 52,886,546	V274I	probably damaging	Het
Arhgap39	T	C	15: 76,725,515		probably benign	Het
Bmp1	G	A	14: 70,480,165	R789W	probably damaging	Het
Cfhr2	T	A	1: 139,821,782	Y154F	possibly damaging	Het
Cilp2	T	C	8: 69,883,365	Y358C	probably damaging	Het
Dennd4a	G	T	9: 64,888,928	K745N	possibly damaging	Het
Dlg1	T	A	16: 31,836,267	S542T	probably benign	Het
Dmbt1	A	T	7: 131,094,735	I893F	possibly damaging	Het
Dnhd1	A	T	7: 105,703,923	E2761V	possibly damaging	Het
F11	T	C	8: 45,255,304	T40A	probably benign	Het
Fam227a	T	C	15: 79,636,735	D296G	possibly damaging	Het
Fance	C	T	17: 28,315,615		probably benign	Het
Gaa	A	G	11: 119,276,843	D149G	probably damaging	Het
Gapt	A	G	13: 110,353,988	M47T	possibly damaging	Het
Gm1110	T	C	9: 26,902,478	N202D	probably damaging	Het
Gm16432	A	T	1: 178,148,908		probably benign	Het
Gm7535	T	C	17: 17,911,547		probably benign	Het
Gm973	T	A	1: 59,562,700	M491K	probably benign	Het
Gmnc	A	G	16: 26,963,945	V27A	probably benign	Het
Kif27	T	C	13: 58,293,101	T1167A	possibly damaging	Het
Klrg1	T	A	6: 122,271,372	*189C	probably null	Het
Lime1	T	A	2: 181,382,847	M98K	probably benign	Het
Lrp1	C	A	10: 127,556,096	A2867S	probably benign	Het
Lrrd1	G	A	5: 3,858,735	S669N	probably benign	Het
Mmel1	A	G	4: 154,891,999	N520S	probably damaging	Het
Mrpl48	A	C	7: 100,549,328	L206V	probably damaging	Het
Nagpa	C	T	16: 5,203,732	A52T	probably benign	Het
Olfr1264	T	G	2: 90,021,184	D294A	probably benign	Het
Olfr98	A	G	17: 37,263,028	V212A	probably benign	Het
Orai2	A	G	5: 136,161,501	S71P	probably damaging	Het
Pcbp1	A	T	6: 86,525,227	I230N	probably damaging	Het
Pcdh15	T	C	10: 74,303,154	L349P	probably damaging	Het
Pcdhb16	T	C	18: 37,479,958	V657A	probably benign	Het
Prdm15	G	T	16: 97,808,675	H590N	probably damaging	Het
Psg18	T	C	7: 18,345,949	I442M	probably damaging	Het
Pygm	C	A	19: 6,389,464	D279E	probably benign	Het
Rrn3	T	A	16: 13,792,934		probably null	Het
Sass6	T	C	3: 116,614,053	S273P	possibly damaging	Het
Schip1	A	G	3: 68,494,937	M116V	probably benign	Het
Sdc3	G	A	4: 130,818,776	V55I	unknown	Het
Serpinb8	T	A	1: 107,597,471	M1K	probably null	Het
Slc24a5	T	C	2: 125,085,819	I346T	probably damaging	Het
Slc35f3	T	A	8: 126,391,107	I335N	probably damaging	Het
Snapc2	T	A	8: 4,255,299	V147E	probably damaging	Het
Snx2	T	C	18: 53,189,712	S56P	possibly damaging	Het
Sptbn5	A	G	2: 120,085,331		probably benign	Het
Stk19	A	T	17: 34,821,424		probably benign	Het
Sulf1	A	G	1: 12,841,478	E692G	probably benign	Het
Tet1	C	T	10: 62,838,671	V1209I	probably damaging	Het
Tln1	T	C	4: 43,539,406	T1639A	probably benign	Het
Tmem135	G	T	7: 89,196,127	Y165*	probably null	Het
Tmprss6	T	C	15: 78,452,507	T398A	probably damaging	Het
Ube4a	C	T	9: 44,939,960		probably null	Het
Vmn1r227	T	C	17: 20,735,237		noncoding transcript	Het
Wdhd1	T	C	14: 47,250,816	S745G	probably benign	Het
Xylt1	A	G	7: 117,592,036	H353R	probably damaging	Het
Zfp788	A	G	7: 41,649,556	T539A	probably benign	Het
Zfp866	A	T	8: 69,765,441	F510I	possibly damaging	Het

Other mutations in Cyp1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Cyp1a2	APN	9	57682069	nonsense	probably null
IGL01161:Cyp1a2	APN	9	57679893	missense	probably damaging	1.00
IGL01583:Cyp1a2	APN	9	57682372	missense	probably benign	0.31
IGL01726:Cyp1a2	APN	9	57682202	missense	possibly damaging	0.78
IGL01973:Cyp1a2	APN	9	57682395	missense	probably damaging	1.00
IGL02995:Cyp1a2	APN	9	57677228	makesense	probably null
IGL03349:Cyp1a2	APN	9	57679875	missense	possibly damaging	0.82
broadway	UTSW	9	57677233	nonsense	probably null
PIT4515001:Cyp1a2	UTSW	9	57681959	missense	probably benign	0.14
R0025:Cyp1a2	UTSW	9	57682061	missense	probably damaging	1.00
R0389:Cyp1a2	UTSW	9	57682025	missense	probably benign	0.00
R0582:Cyp1a2	UTSW	9	57680246	splice site	probably benign
R0589:Cyp1a2	UTSW	9	57679062	missense	possibly damaging	0.95
R1239:Cyp1a2	UTSW	9	57681767	missense	probably benign	0.02
R1988:Cyp1a2	UTSW	9	57682286	missense	possibly damaging	0.90
R2156:Cyp1a2	UTSW	9	57682150	missense	probably damaging	1.00
R2173:Cyp1a2	UTSW	9	57677515	missense	probably damaging	1.00
R2423:Cyp1a2	UTSW	9	57679949	missense	probably damaging	0.99
R3944:Cyp1a2	UTSW	9	57681868	missense	probably benign
R5419:Cyp1a2	UTSW	9	57682511	missense	probably benign	0.17
R5471:Cyp1a2	UTSW	9	57679020	missense	probably damaging	0.96
R5816:Cyp1a2	UTSW	9	57681053	missense	probably benign
R6017:Cyp1a2	UTSW	9	57681030	missense	probably damaging	0.98
R6825:Cyp1a2	UTSW	9	57677260	missense	probably benign	0.01
R6931:Cyp1a2	UTSW	9	57682156	missense	probably benign	0.02
R7058:Cyp1a2	UTSW	9	57677242	missense	probably damaging	0.99
R7079:Cyp1a2	UTSW	9	57681878	missense	probably benign
R7081:Cyp1a2	UTSW	9	57678989	missense	possibly damaging	0.52
R7400:Cyp1a2	UTSW	9	57681940	missense	probably benign	0.37
R7672:Cyp1a2	UTSW	9	57682337	missense	probably benign	0.05
R8097:Cyp1a2	UTSW	9	57679553	splice site	probably null
R8879:Cyp1a2	UTSW	9	57681885	missense	possibly damaging	0.55
R8926:Cyp1a2	UTSW	9	57681078	missense	probably benign	0.00
R9083:Cyp1a2	UTSW	9	57680289	missense	probably benign	0.01
R9206:Cyp1a2	UTSW	9	57682300	missense	probably damaging	1.00
R9208:Cyp1a2	UTSW	9	57682300	missense	probably damaging	1.00
R9784:Cyp1a2	UTSW	9	57680279	missense	probably benign	0.07
RF007:Cyp1a2	UTSW	9	57681970	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGCCTATGAACCTGCACG -3'
(R):5'- ATGCTCTTCGGCTTGGGAAAG -3'

Sequencing Primer
(F):5'- CTGTGTTAACTGAAAAGAGCCAGTC -3'
(R):5'- AAAGCGCCGGTGCATTG -3'

Posted On

2016-07-22