Mutagenetix > Incidental Mutation

Incidental Mutation 'R9208:Cyp1a2'

698646

Institutional Source

Beutler Lab

Gene Symbol

Cyp1a2

Ensembl Gene

ENSMUSG00000032310

Gene Name

cytochrome P450, family 1, subfamily a, polypeptide 2

Synonyms

aromatic compound inducible, CP12, P450-3

MMRRC Submission

068982-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R9208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57584220-57590938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57589583 bp (GRCm39)

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: 99.4%

Validation Efficiency

98% (65/66)

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
Acot6	T	A	12: 84,153,358 (GRCm39)	L200Q	possibly damaging	Het
Apbb1	A	G	7: 105,208,727 (GRCm39)	S569P	probably damaging	Het
Atl3	A	G	19: 7,487,447 (GRCm39)	I121V	probably benign	Het
C87436	A	G	6: 86,423,227 (GRCm39)	D267G	probably benign	Het
Ccdc7a	T	A	8: 129,472,482 (GRCm39)	I1617F	possibly damaging	Het
Cic	T	C	7: 24,987,502 (GRCm39)	F1397L	probably benign	Het
Cln6	T	A	9: 62,756,465 (GRCm39)	M203K	probably benign	Het
Clock	A	G	5: 76,384,871 (GRCm39)	S449P	probably benign	Het
Cse1l	C	A	2: 166,783,185 (GRCm39)	N743K	probably damaging	Het
D6Wsu163e	A	G	6: 126,943,932 (GRCm39)	I443V	probably benign	Het
Dctn1	T	C	6: 83,176,684 (GRCm39)	V1246A	probably benign	Het
Dennd5b	T	C	6: 149,002,698 (GRCm39)	E37G	probably benign	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Ecpas	A	T	4: 58,875,444 (GRCm39)	D173E	probably damaging	Het
Ercc5	T	C	1: 44,217,503 (GRCm39)	W949R	possibly damaging	Het
Fam13c	A	G	10: 70,388,869 (GRCm39)	E465G	probably damaging	Het
Fam83d	T	A	2: 158,610,466 (GRCm39)	C145S	probably damaging	Het
Fbln7	T	A	2: 128,737,343 (GRCm39)	V386E	probably damaging	Het
Fpr3	A	T	17: 18,191,131 (GRCm39)	Q134L	probably damaging	Het
Gm3636	T	A	14: 17,955,001 (GRCm39)	R5S	possibly damaging	Het
Gna15	A	G	10: 81,345,224 (GRCm39)	S214P	probably benign	Het
Hdac9	A	G	12: 34,220,101 (GRCm39)	M897T	probably benign	Het
Hdc	T	C	2: 126,436,600 (GRCm39)	N424D	probably benign	Het
Krtap27-1	A	G	16: 88,468,316 (GRCm39)	V76A	possibly damaging	Het
Lrrd1	T	A	5: 3,900,995 (GRCm39)	H433Q	probably damaging	Het
Ltn1	T	C	16: 87,197,298 (GRCm39)	D1180G	probably benign	Het
Macf1	A	G	4: 123,577,925 (GRCm39)	C20R	unknown	Het
Mphosph9	T	C	5: 124,450,854 (GRCm39)	N306D	probably damaging	Het
Mpp7	T	C	18: 7,403,327 (GRCm39)	R328G	probably benign	Het
Mslnl	C	T	17: 25,961,694 (GRCm39)	P117S	possibly damaging	Het
Muc16	T	A	9: 18,419,833 (GRCm39)	K117M	probably damaging	Het
Mycbp2	T	C	14: 103,532,664 (GRCm39)	N430S	probably benign	Het
Myl1	T	C	1: 66,973,683 (GRCm39)	I8V	probably benign	Het
Ncdn	A	T	4: 126,644,041 (GRCm39)	D260E	probably benign	Het
Nkx3-2	T	A	5: 41,919,114 (GRCm39)	R291S	probably damaging	Het
Nr4a2	A	G	2: 56,999,093 (GRCm39)	V448A	probably damaging	Het
Nrip1	T	C	16: 76,089,616 (GRCm39)	E647G	possibly damaging	Het
Or4c12	C	A	2: 89,773,725 (GRCm39)	V245L	possibly damaging	Het
Or52a5b	A	G	7: 103,417,478 (GRCm39)	I42T	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,120 (GRCm39)	M33T	possibly damaging	Het
Or8s10	C	A	15: 98,335,614 (GRCm39)	A88E	probably benign	Het
Patj	A	T	4: 98,427,310 (GRCm39)	I172F	unknown	Het
Per1	T	C	11: 68,995,636 (GRCm39)	S739P	possibly damaging	Het
Plekhn1	A	C	4: 156,306,859 (GRCm39)	V510G	possibly damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Pram1	A	G	17: 33,859,801 (GRCm39)	T123A	probably benign	Het
Ptpn23	C	A	9: 110,237,101 (GRCm39)		probably null	Het
Rcbtb2	C	T	14: 73,414,500 (GRCm39)	S437L	probably damaging	Het
Resf1	C	T	6: 149,228,027 (GRCm39)	L358F	probably damaging	Het
Rxfp4	T	A	3: 88,559,390 (GRCm39)	R354*	probably null	Het
Serpinb5	A	G	1: 106,803,853 (GRCm39)	T180A	probably damaging	Het
Slc7a14	T	A	3: 31,281,359 (GRCm39)	D317V	probably damaging	Het
Slco5a1	A	G	1: 13,059,802 (GRCm39)		probably null	Het
Snx14	T	A	9: 88,265,832 (GRCm39)	T768S	probably benign	Het
Sorbs1	T	A	19: 40,353,462 (GRCm39)		probably benign	Het
Stambp	C	T	6: 83,528,954 (GRCm39)	A364T	probably damaging	Het
Tgm3	T	A	2: 129,865,618 (GRCm39)	I6N	possibly damaging	Het
Tmem106b	A	T	6: 13,082,430 (GRCm39)	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,752,450 (GRCm39)	V205A	probably benign	Het
Treml2	A	T	17: 48,614,922 (GRCm39)	R136*	probably null	Het
Trim46	T	C	3: 89,142,466 (GRCm39)	T674A	possibly damaging	Het
Trmt13	T	A	3: 116,376,356 (GRCm39)	Y345F	possibly damaging	Het
Tspyl4	A	G	10: 34,173,568 (GRCm39)	H20R	probably benign	Het
Uvssa	T	C	5: 33,571,419 (GRCm39)		probably null	Het
Vmn1r192	A	T	13: 22,371,401 (GRCm39)	F273Y	probably damaging	Het
Vmn2r45	A	T	7: 8,486,298 (GRCm39)	I330N	probably damaging	Het
Zfp40	A	G	17: 23,394,551 (GRCm39)	F679L	probably damaging	Het

Other mutations in Cyp1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Cyp1a2	APN	9	57,589,352 (GRCm39)	nonsense	probably null
IGL01161:Cyp1a2	APN	9	57,587,176 (GRCm39)	missense	probably damaging	1.00
IGL01583:Cyp1a2	APN	9	57,589,655 (GRCm39)	missense	probably benign	0.31
IGL01726:Cyp1a2	APN	9	57,589,485 (GRCm39)	missense	possibly damaging	0.78
IGL01973:Cyp1a2	APN	9	57,589,678 (GRCm39)	missense	probably damaging	1.00
IGL02995:Cyp1a2	APN	9	57,584,511 (GRCm39)	makesense	probably null
IGL03349:Cyp1a2	APN	9	57,587,158 (GRCm39)	missense	possibly damaging	0.82
broadway	UTSW	9	57,584,516 (GRCm39)	nonsense	probably null
PIT4515001:Cyp1a2	UTSW	9	57,589,242 (GRCm39)	missense	probably benign	0.14
R0025:Cyp1a2	UTSW	9	57,589,344 (GRCm39)	missense	probably damaging	1.00
R0389:Cyp1a2	UTSW	9	57,589,308 (GRCm39)	missense	probably benign	0.00
R0582:Cyp1a2	UTSW	9	57,587,529 (GRCm39)	splice site	probably benign
R0589:Cyp1a2	UTSW	9	57,586,345 (GRCm39)	missense	possibly damaging	0.95
R1239:Cyp1a2	UTSW	9	57,589,050 (GRCm39)	missense	probably benign	0.02
R1988:Cyp1a2	UTSW	9	57,589,569 (GRCm39)	missense	possibly damaging	0.90
R2156:Cyp1a2	UTSW	9	57,589,433 (GRCm39)	missense	probably damaging	1.00
R2173:Cyp1a2	UTSW	9	57,584,798 (GRCm39)	missense	probably damaging	1.00
R2423:Cyp1a2	UTSW	9	57,587,232 (GRCm39)	missense	probably damaging	0.99
R3944:Cyp1a2	UTSW	9	57,589,151 (GRCm39)	missense	probably benign
R5225:Cyp1a2	UTSW	9	57,584,516 (GRCm39)	nonsense	probably null
R5419:Cyp1a2	UTSW	9	57,589,794 (GRCm39)	missense	probably benign	0.17
R5471:Cyp1a2	UTSW	9	57,586,303 (GRCm39)	missense	probably damaging	0.96
R5816:Cyp1a2	UTSW	9	57,588,336 (GRCm39)	missense	probably benign
R6017:Cyp1a2	UTSW	9	57,588,313 (GRCm39)	missense	probably damaging	0.98
R6825:Cyp1a2	UTSW	9	57,584,543 (GRCm39)	missense	probably benign	0.01
R6931:Cyp1a2	UTSW	9	57,589,439 (GRCm39)	missense	probably benign	0.02
R7058:Cyp1a2	UTSW	9	57,584,525 (GRCm39)	missense	probably damaging	0.99
R7079:Cyp1a2	UTSW	9	57,589,161 (GRCm39)	missense	probably benign
R7081:Cyp1a2	UTSW	9	57,586,272 (GRCm39)	missense	possibly damaging	0.52
R7400:Cyp1a2	UTSW	9	57,589,223 (GRCm39)	missense	probably benign	0.37
R7672:Cyp1a2	UTSW	9	57,589,620 (GRCm39)	missense	probably benign	0.05
R8097:Cyp1a2	UTSW	9	57,586,836 (GRCm39)	splice site	probably null
R8879:Cyp1a2	UTSW	9	57,589,168 (GRCm39)	missense	possibly damaging	0.55
R8926:Cyp1a2	UTSW	9	57,588,361 (GRCm39)	missense	probably benign	0.00
R9083:Cyp1a2	UTSW	9	57,587,572 (GRCm39)	missense	probably benign	0.01
R9206:Cyp1a2	UTSW	9	57,589,583 (GRCm39)	missense	probably damaging	1.00
R9784:Cyp1a2	UTSW	9	57,587,562 (GRCm39)	missense	probably benign	0.07
RF007:Cyp1a2	UTSW	9	57,589,253 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGCTCTTCAGGGCATCC -3'
(R):5'- CAGTACATCTCCTTAGCCCCAG -3'

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

Posted On

2022-02-07