Mutagenetix > Incidental Mutation

Incidental Mutation 'R0025:Cyp1a2'

40792

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

038320-MU

Accession Numbers

Essential gene?

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

Stock #

R0025 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

57584220-57590938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57589344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 157 (S157P)

Ref Sequence

ENSEMBL: ENSMUSP00000034860 (fasta)

Gene Model

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

AlphaFold

P00186

Predicted Effect

probably damaging
Transcript: ENSMUST00000034860
AA Change: S157P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: S157P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215792

Meta Mutation Damage Score

0.5194

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

98% (115/117)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	T	7: 119,257,538 (GRCm39)	T435S	probably damaging	Het
Agtpbp1	G	A	13: 59,648,014 (GRCm39)	T602I	probably benign	Het
Ahnak2	T	A	12: 112,749,154 (GRCm39)	D231V	probably damaging	Het
Ampd3	G	A	7: 110,392,876 (GRCm39)	D215N	probably benign	Het
Ankrd17	T	C	5: 90,398,264 (GRCm39)	D1762G	probably damaging	Het
Asb8	C	T	15: 98,040,552 (GRCm39)	V37I	possibly damaging	Het
Bicra	T	C	7: 15,721,436 (GRCm39)	T694A	possibly damaging	Het
Btnl6	A	T	17: 34,733,273 (GRCm39)	M234K	probably benign	Het
Ccnb1	A	T	13: 100,916,289 (GRCm39)	V336D	probably damaging	Het
Cdca8	A	T	4: 124,815,047 (GRCm39)	L190Q	possibly damaging	Het
Cep290	A	T	10: 100,373,693 (GRCm39)	L1324F	probably damaging	Het
Ces1f	T	C	8: 93,998,513 (GRCm39)	E161G	probably benign	Het
Ces2g	A	G	8: 105,692,628 (GRCm39)		probably benign	Het
Cfap74	C	T	4: 155,510,572 (GRCm39)	R386C	probably benign	Het
Clec3b	A	G	9: 122,986,090 (GRCm39)	T163A	probably benign	Het
Cntnap4	T	G	8: 113,529,796 (GRCm39)	L668R	probably damaging	Het
Col27a1	A	G	4: 63,194,214 (GRCm39)	D857G	probably damaging	Het
Csf1	A	G	3: 107,655,960 (GRCm39)	V245A	probably benign	Het
Ctss	A	G	3: 95,457,448 (GRCm39)	Y302C	probably damaging	Het
Cyb5d1	A	G	11: 69,285,792 (GRCm39)		probably null	Het
Cyp2b9	A	T	7: 25,900,238 (GRCm39)	T349S	probably benign	Het
Dennd6b	T	C	15: 89,070,386 (GRCm39)	I428V	probably benign	Het
Denr	A	G	5: 124,065,298 (GRCm39)		probably benign	Het
Dnah9	G	A	11: 65,860,781 (GRCm39)		probably benign	Het
Dock3	G	T	9: 106,790,467 (GRCm39)	Q1419K	possibly damaging	Het
Dph3b-ps	A	T	13: 106,683,375 (GRCm39)		noncoding transcript	Het
Emc7	G	T	2: 112,289,830 (GRCm39)	D87Y	probably damaging	Het
Enah	T	C	1: 181,740,938 (GRCm39)	E462G	possibly damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Enpp6	A	G	8: 47,519,035 (GRCm39)	K268E	probably damaging	Het
Eps15l1	T	G	8: 73,135,341 (GRCm39)		probably benign	Het
Fam151a	T	C	4: 106,605,371 (GRCm39)	Y578H	probably benign	Het
Fmn2	T	C	1: 174,618,880 (GRCm39)	V1512A	probably damaging	Het
Focad	C	A	4: 88,327,196 (GRCm39)	N168K	probably benign	Het
Fyco1	A	G	9: 123,658,074 (GRCm39)	C701R	probably damaging	Het
Gabbr1	G	T	17: 37,378,102 (GRCm39)		probably benign	Het
Golga7b	A	T	19: 42,255,278 (GRCm39)	E76V	probably damaging	Het
Gucy2d	A	G	7: 98,116,959 (GRCm39)	D924G	probably benign	Het
H2-M9	A	G	17: 36,952,647 (GRCm39)	F133S	probably damaging	Het
Hc	A	G	2: 34,876,304 (GRCm39)	Y1581H	probably damaging	Het
Herc3	C	T	6: 58,851,293 (GRCm39)	P514L	probably damaging	Het
Hormad1	T	C	3: 95,492,436 (GRCm39)		probably benign	Het
Iigp1	T	A	18: 60,523,859 (GRCm39)	S326T	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Kcnk7	T	G	19: 5,757,042 (GRCm39)	*344G	probably null	Het
Kif13a	A	G	13: 46,939,987 (GRCm39)		probably null	Het
Kif1a	A	C	1: 92,970,080 (GRCm39)	I1027S	probably damaging	Het
Kif2c	G	T	4: 117,022,714 (GRCm39)	H416Q	probably damaging	Het
Liat1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	11: 75,890,941 (GRCm39)		probably benign	Het
Map3k1	A	G	13: 111,892,663 (GRCm39)	V864A	probably benign	Het
Mark2	T	C	19: 7,263,287 (GRCm39)	D160G	probably damaging	Het
Mbd4	A	G	6: 115,821,529 (GRCm39)		probably null	Het
Micu1	A	G	10: 59,624,699 (GRCm39)		probably null	Het
Mink1	T	C	11: 70,503,868 (GRCm39)	W1263R	probably damaging	Het
Mov10	A	C	3: 104,711,919 (GRCm39)	L224R	probably damaging	Het
Ndel1	T	C	11: 68,726,999 (GRCm39)	E226G	probably damaging	Het
Neb	A	T	2: 52,112,786 (GRCm39)	V4336E	probably damaging	Het
Nln	T	A	13: 104,173,399 (GRCm39)	K602N	probably damaging	Het
Nlrp14	A	T	7: 106,780,465 (GRCm39)		probably benign	Het
Nmd3	A	T	3: 69,655,654 (GRCm39)	D445V	probably damaging	Het
Nop14	T	C	5: 34,801,297 (GRCm39)	I625V	probably benign	Het
Notch1	T	C	2: 26,360,943 (GRCm39)	Q1134R	probably damaging	Het
Nr4a2	T	C	2: 56,998,627 (GRCm39)	I392M	probably benign	Het
Or13n4	A	G	7: 106,422,963 (GRCm39)	F257L	possibly damaging	Het
Or4f6	T	A	2: 111,839,365 (GRCm39)	L55F	probably damaging	Het
Or8b57	A	G	9: 40,003,549 (GRCm39)	S234P	probably damaging	Het
Osbp	T	C	19: 11,961,322 (GRCm39)	Y454H	probably damaging	Het
Pak4	G	A	7: 28,263,708 (GRCm39)	R343C	probably damaging	Het
Pak5	T	C	2: 135,942,704 (GRCm39)	K479E	possibly damaging	Het
Pard3	C	A	8: 127,888,058 (GRCm39)	D73E	probably damaging	Het
Pcdh10	T	C	3: 45,334,934 (GRCm39)	V416A	possibly damaging	Het
Plek	A	C	11: 16,935,594 (GRCm39)	W261G	probably damaging	Het
Pmp22	A	T	11: 63,049,076 (GRCm39)		probably null	Het
Prph2	A	C	17: 47,230,697 (GRCm39)	K197Q	probably benign	Het
Prss45	T	A	9: 110,669,962 (GRCm39)	L257Q	probably damaging	Het
Psmb6	C	A	11: 70,417,171 (GRCm39)	H73Q	probably benign	Het
Rin2	T	C	2: 145,720,752 (GRCm39)		probably benign	Het
Rps6kb1	A	T	11: 86,402,413 (GRCm39)		probably null	Het
Scn10a	C	A	9: 119,499,550 (GRCm39)	D248Y	probably damaging	Het
Scn4a	C	T	11: 106,215,386 (GRCm39)	V1197I	probably benign	Het
Siglecf	A	T	7: 43,001,349 (GRCm39)	I106F	probably benign	Het
Sik1	A	G	17: 32,066,249 (GRCm39)		probably benign	Het
Slc22a21	T	G	11: 53,870,514 (GRCm39)	N57T	probably damaging	Het
Slc36a2	A	G	11: 55,053,621 (GRCm39)	L339P	probably damaging	Het
Slc4a9	G	T	18: 36,664,719 (GRCm39)		probably benign	Het
Smg1	G	A	7: 117,811,666 (GRCm39)	T104I	possibly damaging	Het
Stc2	A	T	11: 31,315,559 (GRCm39)		probably null	Het
Stx18	T	A	5: 38,249,908 (GRCm39)	Y74N	probably damaging	Het
Stxbp5	A	T	10: 9,638,492 (GRCm39)	H1102Q	probably damaging	Het
Tnfaip8l2	G	A	3: 95,047,339 (GRCm39)	L175F	probably damaging	Het
Tom1l2	T	C	11: 60,120,960 (GRCm39)	K450E	probably damaging	Het
Tpo	T	C	12: 30,150,389 (GRCm39)	Q497R	probably benign	Het
Tprg1l	G	T	4: 154,244,802 (GRCm39)		probably benign	Het
Triml2	A	G	8: 43,638,469 (GRCm39)	M146V	probably benign	Het
Tsc2	A	G	17: 24,849,978 (GRCm39)		probably benign	Het
Tut7	A	T	13: 59,953,142 (GRCm39)	D99E	probably benign	Het
Vit	G	A	17: 78,907,264 (GRCm39)	G229R	probably benign	Het
Vmn2r19	C	T	6: 123,308,506 (GRCm39)	L528F	probably benign	Het
Vwf	T	A	6: 125,659,775 (GRCm39)	I2658N	probably benign	Het
Wdfy3	T	C	5: 101,992,912 (GRCm39)	D3341G	probably damaging	Het
Wdr36	T	A	18: 32,992,360 (GRCm39)	D632E	probably damaging	Het
Wdr47	G	T	3: 108,545,307 (GRCm39)	A733S	probably damaging	Het
Zfp458	T	A	13: 67,405,962 (GRCm39)	H156L	probably damaging	Het
Zfp654	A	G	16: 64,605,181 (GRCm39)	V466A	probably benign	Het
Zfp804b	T	C	5: 6,821,665 (GRCm39)	E466G	probably damaging	Het
Zfp941	T	C	7: 140,393,185 (GRCm39)	D58G	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
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
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'- GTTCTTCCCAAAGCACATGGCAC -3'
(R):5'- CCTTCATTGGGCACATGCTGACTG -3'

Sequencing Primer
(F):5'- GCACATGGCACCAATGACG -3'
(R):5'- TGTCACTGACACGGCTGAG -3'

Posted On

2013-05-23