Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:Cyp1a2'

698530

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57676937-57683703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57682300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 77 (I77T)

Ref Sequence

ENSEMBL: ENSMUSP00000034860 (fasta)

Gene Model

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

AlphaFold

P00186

Predicted Effect

probably damaging
Transcript: ENSMUST00000034860
AA Change: I77T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: I77T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,509,404	D248G	probably benign	Het
Abcc5	C	A	16: 20,389,389	V605F	probably benign	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Als2	A	G	1: 59,185,247	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Apex1	T	G	14: 50,925,668	D69E	possibly damaging	Het
Atg13	A	T	2: 91,682,061	F288I	probably benign	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
Atoh1	A	G	6: 64,729,729	E136G	probably benign	Het
Ccr7	T	C	11: 99,149,069	N9S	probably benign	Het
Cdhr1	A	C	14: 37,080,548	W653G	probably damaging	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Crnn	A	C	3: 93,146,944	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dnah7a	G	T	1: 53,501,598	T2539N	probably benign	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fat4	G	C	3: 39,009,241	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,038,210	L964S	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm973	A	T	1: 59,552,426	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Iars2	A	T	1: 185,317,949	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,777,603	S545P	probably damaging	Het
Kif1a	G	T	1: 93,051,480	D928E	probably damaging	Het
Kif26a	C	T	12: 112,178,046	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,243,358		probably null	Het
Klhl31	T	A	9: 77,651,107	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,250,451	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,322,925	C924S	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,558,231	L425M	possibly damaging	Het
Nop9	T	A	14: 55,750,135		probably null	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,897,808	M1I	probably null	Het
Olfr1314	A	G	2: 112,092,065	F212S	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,314,098	Y469*	probably null	Het
Rbm33	A	G	5: 28,352,586	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rcor3	A	T	1: 192,101,595	*448R	probably null	Het
Scn10a	T	C	9: 119,616,761	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,717,787	I1108F	probably damaging	Het
Scrn2	T	C	11: 97,032,136	I135T	probably damaging	Het
Sptan1	A	T	2: 30,030,712	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,836,998	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Tor4a	A	T	2: 25,194,963	N309K	probably damaging	Het
Trbv4	A	G	6: 41,059,690	T50A	probably benign	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Tvp23b	T	C	11: 62,882,016	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,559,611	I156F	probably damaging	Het
Wnk4	T	C	11: 101,274,056	I737T	probably damaging	Het
Zfp329	A	T	7: 12,811,158	D146E	probably benign	Het
Zfp40	A	G	17: 23,175,577	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp804b	T	C	5: 6,772,154	N303S	probably benign	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
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
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'- GAGAAGCTCTTCAGGGCATC -3'
(R):5'- TACATCTCCTTAGCCCCAGAG -3'

Sequencing Primer
(F):5'- TGCTCTTGCCGTTAGTGA -3'
(R):5'- TTAGCCCCAGAGCTGCTACTG -3'

Posted On

2022-02-07