Mutagenetix > Incidental Mutation

Incidental Mutation 'R7081:Cyp1a2'

549539

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

045175-MU

Accession Numbers

Essential gene?

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

Stock #

R7081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57584220-57590938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57586272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 415 (D415E)

Ref Sequence

ENSEMBL: ENSMUSP00000034860 (fasta)

Gene Model

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

AlphaFold

P00186

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034860
AA Change: D415E

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: D415E

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	A	11: 84,361,951 (GRCm39)	H337L	possibly damaging	Het
Abcb4	T	A	5: 8,984,263 (GRCm39)	N664K	probably benign	Het
Adh7	A	G	3: 137,934,606 (GRCm39)	D343G	probably benign	Het
Als2cl	G	A	9: 110,723,650 (GRCm39)	R682Q	possibly damaging	Het
Angptl6	A	C	9: 20,786,644 (GRCm39)	I334R	probably damaging	Het
Ankrd45	A	G	1: 160,978,863 (GRCm39)	N101D	probably benign	Het
Arhgef10	C	T	8: 15,047,547 (GRCm39)	Q1137*	probably null	Het
Asap3	T	A	4: 135,968,881 (GRCm39)		probably null	Het
Bmp2k	T	C	5: 97,212,820 (GRCm39)	S568P	unknown	Het
C4b	A	C	17: 34,954,417 (GRCm39)	F917L	probably benign	Het
Cacna1e	A	T	1: 154,576,129 (GRCm39)	V168E	possibly damaging	Het
Ccdc60	T	A	5: 116,264,146 (GRCm39)	I543F	probably benign	Het
Cd36	T	C	5: 18,019,702 (GRCm39)	D133G	probably damaging	Het
Chd4	T	C	6: 125,106,948 (GRCm39)	V1911A	unknown	Het
Cplx4	A	T	18: 66,100,538 (GRCm39)		probably null	Het
Cyp3a57	T	C	5: 145,318,183 (GRCm39)	I388T	probably damaging	Het
Dnajc5b	T	C	3: 19,601,025 (GRCm39)		probably null	Het
Dock4	A	T	12: 40,671,285 (GRCm39)	I35F	probably damaging	Het
Efna4	A	T	3: 89,241,601 (GRCm39)	L206Q	unknown	Het
Eif2a	T	C	3: 58,449,139 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,063,801 (GRCm39)	F612L	probably damaging	Het
Fbxw21	A	G	9: 108,990,990 (GRCm39)	L23P	probably damaging	Het
Fcamr	A	T	1: 130,740,949 (GRCm39)	E456V	probably damaging	Het
Fkbp8	G	A	8: 70,983,644 (GRCm39)	R106H	probably benign	Het
Galr2	T	A	11: 116,173,874 (GRCm39)	L168Q	probably damaging	Het
Gm11111	C	T	5: 98,701,399 (GRCm39)	S22L	unknown	Het
Gnpat	T	C	8: 125,590,008 (GRCm39)	F11S	possibly damaging	Het
H2-T24	A	T	17: 36,328,344 (GRCm39)	D46E	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Ifna12	T	C	4: 88,521,440 (GRCm39)	R36G	probably damaging	Het
Kcnma1	G	A	14: 23,350,086 (GRCm39)	P1151L	probably damaging	Het
Kif5c	T	A	2: 49,631,373 (GRCm39)	D683E	probably benign	Het
Krit1	T	C	5: 3,873,651 (GRCm39)	Y477H	possibly damaging	Het
Lipm	T	A	19: 34,098,723 (GRCm39)	V399D	possibly damaging	Het
Lrguk	A	T	6: 34,079,074 (GRCm39)	T770S	probably benign	Het
Lrrc37a	T	C	11: 103,348,781 (GRCm39)	N2638S	unknown	Het
Lrrc40	T	C	3: 157,742,442 (GRCm39)	V27A	probably damaging	Het
Map4k1	T	C	7: 28,690,574 (GRCm39)	V355A	probably benign	Het
Mylk3	T	C	8: 86,091,422 (GRCm39)	I128V	probably benign	Het
Myo1c	A	G	11: 75,551,789 (GRCm39)	D289G	probably benign	Het
Mypn	A	G	10: 62,970,737 (GRCm39)	F889S	probably damaging	Het
Ndufv3	C	T	17: 31,746,407 (GRCm39)	P99L	possibly damaging	Het
Nlrp10	A	C	7: 108,523,855 (GRCm39)	S542A	probably benign	Het
Noc2l	T	A	4: 156,331,477 (GRCm39)	D718E	possibly damaging	Het
Ntng1	T	A	3: 109,759,105 (GRCm39)	I355F	probably benign	Het
Nup210	A	G	6: 91,037,647 (GRCm39)	V742A	possibly damaging	Het
Nup50l	A	G	6: 96,142,798 (GRCm39)	V82A	possibly damaging	Het
Olig2	T	A	16: 91,023,307 (GRCm39)	L7Q	probably damaging	Het
Or51f23b	A	T	7: 102,402,395 (GRCm39)	I247N	probably benign	Het
Or8u10	A	T	2: 85,915,939 (GRCm39)	F61I	probably damaging	Het
Parpbp	A	T	10: 87,929,517 (GRCm39)	W444R	probably damaging	Het
Plekhg3	A	G	12: 76,625,019 (GRCm39)	E1287G	probably benign	Het
Pramel16	T	C	4: 143,675,848 (GRCm39)	D326G	probably damaging	Het
Pramel56	T	A	5: 95,022,641 (GRCm39)	N107K	possibly damaging	Het
Prrc2b	A	T	2: 32,103,075 (GRCm39)	Q851L	probably benign	Het
Psg21	C	T	7: 18,388,774 (GRCm39)	W106*	probably null	Het
Rab18	T	G	18: 6,778,529 (GRCm39)	D53E	probably benign	Het
Rbm19	T	A	5: 120,261,216 (GRCm39)		probably null	Het
Rhobtb1	T	C	10: 69,102,127 (GRCm39)	V136A	probably benign	Het
Rsph4a	G	A	10: 33,785,189 (GRCm39)	V367I	probably damaging	Het
Sec24b	T	C	3: 129,781,391 (GRCm39)	N1161S	probably benign	Het
Sgcd	C	A	11: 47,016,428 (GRCm39)	G145*	probably null	Het
Sin3a	A	G	9: 57,001,755 (GRCm39)	K134R	probably null	Het
Slc9b2	A	G	3: 135,027,698 (GRCm39)	E108G	probably benign	Het
Stk24	A	T	14: 121,531,706 (GRCm39)	S317T	probably benign	Het
Stra8	T	A	6: 34,911,302 (GRCm39)		probably null	Het
Tmem131	A	G	1: 36,928,376 (GRCm39)	V71A	possibly damaging	Het
Tmem87a	T	C	2: 120,211,264 (GRCm39)	D227G	possibly damaging	Het
Vnn1	T	A	10: 23,770,903 (GRCm39)	L44M	possibly damaging	Het
Wdr20	G	A	12: 110,769,884 (GRCm39)	V160I	possibly damaging	Het
Zfand4	T	A	6: 116,292,581 (GRCm39)	N667K	possibly damaging	Het
Zfp1005	A	G	2: 150,110,189 (GRCm39)	H293R	possibly damaging	Het
Zfp609	A	G	9: 65,609,723 (GRCm39)	V1080A	possibly damaging	Het
Zhx1	C	T	15: 57,917,734 (GRCm39)	V171I	probably benign	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
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
R9208: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'- AACCTTAGAGCATGAGGAAACTTC -3'
(R):5'- CGTGATAGTCAGACACTGGG -3'

Sequencing Primer
(F):5'- CCTCCTGAGTAGGCTGGATTAC -3'
(R):5'- CGTGATAGTCAGACACTGGGATGAAG -3'

Posted On

2019-05-15