Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01583:Cyp1a2'

91441

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp1a2

Ensembl Gene

ENSMUSG00000032310

Gene Name

cytochrome P450, family 1, subfamily a, polypeptide 2

Synonyms

CP12, aromatic compound inducible, P450-3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

IGL01583

Quality Score

Status

Chromosome

Chromosomal Location

57676937-57683703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57682372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 53 (M53K)

Ref Sequence

ENSEMBL: ENSMUSP00000034860 (fasta)

Gene Model

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

AlphaFold

P00186

Predicted Effect

probably benign
Transcript: ENSMUST00000034860
AA Change: M53K

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: M53K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215792

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,296,409	M329K	possibly damaging	Het
Abce1	G	A	8: 79,693,447	T300M	probably damaging	Het
Acap1	G	A	11: 69,881,677	S536L	probably damaging	Het
Adcy5	C	A	16: 35,283,513		probably benign	Het
Ap2b1	G	T	11: 83,324,611	R127L	possibly damaging	Het
Asxl3	T	G	18: 22,516,597	S548A	probably benign	Het
Atm	G	A	9: 53,484,247		probably benign	Het
Cep250	T	C	2: 155,976,149	V807A	probably damaging	Het
Ces1g	T	A	8: 93,306,959	Y445F	probably damaging	Het
Cnksr3	A	G	10: 7,120,512	Y241H	probably benign	Het
Col9a1	T	C	1: 24,185,144	S136P	unknown	Het
Cux2	C	A	5: 121,874,107	G422W	probably damaging	Het
Ddx20	T	C	3: 105,686,670	D123G	probably damaging	Het
Dock4	T	A	12: 40,810,467	L1284*	probably null	Het
Dpp9	A	C	17: 56,211,666	L46R	probably benign	Het
Elavl1	A	T	8: 4,301,699	V139E	probably damaging	Het
Fndc3b	T	C	3: 27,428,995	Y1018C	probably damaging	Het
Fubp1	A	G	3: 152,215,624	N78D	possibly damaging	Het
Fubp3	C	T	2: 31,611,743		probably benign	Het
Gbx2	C	A	1: 89,928,837	R277L	probably damaging	Het
Gm128	T	C	3: 95,240,783	R67G	possibly damaging	Het
Gpc2	T	A	5: 138,275,530	R469W	probably damaging	Het
Ifi30	G	A	8: 70,764,762		probably benign	Het
Kbtbd4	T	C	2: 90,905,908	S88P	probably damaging	Het
Kif23	A	T	9: 61,935,468	Y216N	probably damaging	Het
Lgals4	A	G	7: 28,841,548	D299G	probably damaging	Het
Lmx1b	A	G	2: 33,569,059	S161P	probably benign	Het
Lrcol1	T	A	5: 110,354,578	S107T	probably benign	Het
Lrrc28	A	T	7: 67,545,475		probably null	Het
Ncoa4	T	C	14: 32,172,927	V42A	probably benign	Het
Nkd2	C	T	13: 73,821,480	S277N	probably benign	Het
Nlrp2	A	T	7: 5,337,770	L15Q	probably damaging	Het
Nynrin	T	G	14: 55,870,511	L1025R	probably damaging	Het
Olfr101	C	T	17: 37,299,738	R228H	probably benign	Het
Olfr1134	G	T	2: 87,656,413	C169*	probably null	Het
Piwil4	A	T	9: 14,734,487	F152I	probably damaging	Het
Plod3	T	C	5: 136,996,148	S705P	probably benign	Het
Ppp2r2c	T	A	5: 36,868,822	M1K	probably null	Het
Rgs19	T	C	2: 181,689,453	E129G	probably damaging	Het
Rpap2	T	A	5: 107,620,195	S223T	probably damaging	Het
Shox2	T	C	3: 66,973,771		probably benign	Het
Slc30a4	T	C	2: 122,685,217	I370V	probably benign	Het
Slco1b2	A	G	6: 141,663,672	I269M	possibly damaging	Het
Slco1c1	A	G	6: 141,540,067	Y142C	probably damaging	Het
Slco3a1	T	C	7: 74,284,450	N658S	probably benign	Het
Sos1	A	T	17: 80,433,900	S485R	probably benign	Het
Srpk1	A	G	17: 28,606,317	L127P	probably damaging	Het
St3gal6	T	A	16: 58,493,670		probably benign	Het
Stk4	T	A	2: 164,074,214	M1K	probably null	Het
Tbc1d12	A	G	19: 38,882,732	E313G	probably benign	Het
Tbk1	A	G	10: 121,557,229	I472T	probably benign	Het
Tiam1	G	A	16: 89,789,280	R849W	probably damaging	Het
Tle3	A	G	9: 61,410,025	T381A	probably benign	Het
Tmem82	T	G	4: 141,614,643	T337P	probably benign	Het
Tmprss15	T	C	16: 79,071,261	T220A	probably benign	Het
Ung	A	G	5: 114,137,308	K242E	possibly damaging	Het
Vmn1r211	A	T	13: 22,852,401	M32K	probably benign	Het
Vps13d	T	G	4: 145,045,088	D956A	probably damaging	Het
Wdr64	T	A	1: 175,767,156		probably null	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
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
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

Posted On

2013-12-09