Mutagenetix > Incidental Mutation

Incidental Mutation 'R2423:Cyp1a2'

249443

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

040385-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R2423 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57676937-57683703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57679949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 353 (R353Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034860 (fasta)

Gene Model

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

AlphaFold

P00186

Predicted Effect

probably damaging
Transcript: ENSMUST00000034860
AA Change: R353Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: R353Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215792

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amer2	T	C	14: 60,379,207	S284P	possibly damaging	Het
Ap5z1	T	C	5: 142,476,777	V614A	probably benign	Het
Arhgap9	A	T	10: 127,327,124		probably null	Het
Brf1	G	A	12: 113,000,199	A53V	probably benign	Het
Deup1	G	T	9: 15,592,458	S269*	probably null	Het
F11r	T	A	1: 171,461,623	Y218N	possibly damaging	Het
Gjd4	G	T	18: 9,280,811	S89*	probably null	Het
Mapkbp1	A	T	2: 120,024,590	E1430V	probably benign	Het
Mga	A	G	2: 119,964,793	K2986R	probably damaging	Het
Myo9b	G	T	8: 71,327,940	V494L	probably damaging	Het
Nbea	G	A	3: 56,085,306	T293I	probably damaging	Het
Neto2	C	T	8: 85,669,767	R83Q	probably damaging	Het
Ocm	A	T	5: 144,024,570		probably null	Het
Olfr619	C	T	7: 103,604,034	R127C	probably benign	Het
Pcdha11	T	C	18: 37,007,424	I702T	possibly damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Rbbp8nl	A	T	2: 180,280,971	S210T	probably damaging	Het
Rbl2	A	T	8: 91,087,146	I340F	probably benign	Het
Rft1	T	C	14: 30,666,767	L216P	possibly damaging	Het
Slc26a10	T	A	10: 127,179,737		probably null	Het
Slc34a1	G	A	13: 55,409,052	A235T	possibly damaging	Het
Spag17	A	G	3: 100,103,456	T2089A	probably benign	Het
Srek1	G	C	13: 103,753,028	S260*	probably null	Het
Sspo	T	C	6: 48,454,055	V624A	probably benign	Het
Tapt1	T	C	5: 44,192,453	I251V	probably benign	Het
Tmem248	T	C	5: 130,229,562	I32T	probably damaging	Het
Tnk1	T	G	11: 69,855,761	T209P	probably damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,814,790		probably null	Het
Trp53tg5	T	A	2: 164,471,330	R142*	probably null	Het
Upf1	C	T	8: 70,338,460	R544H	probably damaging	Het
Vldlr	C	T	19: 27,236,288	T125I	possibly damaging	Het
Vps8	A	G	16: 21,559,337	T1033A	probably benign	Het
Wiz	A	C	17: 32,361,885	H197Q	probably 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
R3944:Cyp1a2	UTSW	9	57681868	missense	probably benign
R5225:Cyp1a2	UTSW	9	57677233	nonsense	probably null
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'- ATCCTGATTTGGGGCCAGAG -3'
(R):5'- ATGTGCCCACTATGAGTAAGCC -3'

Sequencing Primer
(F):5'- CCAGAGCTGGGAAGTTGG -3'
(R):5'- GCCCACTATGAGTAAGCCCTAGG -3'

Posted On

2014-11-12