Mutagenetix > Incidental Mutation

Incidental Mutation 'R6017:Cyp1a2'

478650

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

044191-MU

Accession Numbers

Essential gene?

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

Stock #

R6017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57584220-57590938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57588313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 304 (K304E)

Ref Sequence

ENSEMBL: ENSMUSP00000034860 (fasta)

Gene Model

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

AlphaFold

P00186

Predicted Effect

probably damaging
Transcript: ENSMUST00000034860
AA Change: K304E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034860
Gene: ENSMUSG00000032310
AA Change: K304E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215792

Meta Mutation Damage Score

0.2147

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,325,780 (GRCm39)	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,545,542 (GRCm39)	L5581*	probably null	Het
Arpc2	C	A	1: 74,301,645 (GRCm39)	H193N	probably benign	Het
B3galt5	A	G	16: 96,116,384 (GRCm39)	T6A	probably benign	Het
Bod1l	A	T	5: 41,976,103 (GRCm39)	V1737E	probably benign	Het
Cacfd1	T	G	2: 26,903,440 (GRCm39)		probably benign	Het
Cdc42ep4	A	T	11: 113,620,192 (GRCm39)	D66E	probably benign	Het
Cldn1	G	T	16: 26,181,969 (GRCm39)	T80N	probably damaging	Het
Cmtm1	C	A	8: 105,037,583 (GRCm39)		probably benign	Het
Cntnap5c	A	T	17: 58,411,693 (GRCm39)	I526F	probably benign	Het
Copb1	T	C	7: 113,836,032 (GRCm39)	K450E	probably benign	Het
Crebrf	A	C	17: 26,976,823 (GRCm39)	I416L	probably benign	Het
Csmd3	C	A	15: 48,177,408 (GRCm39)	V377F	possibly damaging	Het
Cyp2d26	A	G	15: 82,674,774 (GRCm39)	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,183,476 (GRCm39)	C198*	probably null	Het
Ddx11	A	G	17: 66,437,012 (GRCm39)	D102G		Het
Dpys	T	A	15: 39,710,114 (GRCm39)	Q105L	probably null	Het
Dsn1	C	A	2: 156,838,162 (GRCm39)	R334L	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha8	G	T	4: 136,659,054 (GRCm39)	H867N	probably damaging	Het
Ephb3	T	C	16: 21,040,781 (GRCm39)	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,243,010 (GRCm39)	H83Q	probably benign	Het
Gm13102	T	C	4: 143,835,807 (GRCm39)	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,262,276 (GRCm39)	T82A	probably benign	Het
Gss	C	A	2: 155,429,385 (GRCm39)	A36S	probably benign	Het
Hepacam	A	G	9: 37,292,056 (GRCm39)	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332 (GRCm39)	V226F	probably damaging	Het
Hgfac	T	C	5: 35,201,739 (GRCm39)	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,674,466 (GRCm39)	R88H	probably benign	Het
Irx5	T	A	8: 93,084,878 (GRCm39)	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,225,082 (GRCm39)	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,305,400 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,054,164 (GRCm39)	E166G	probably damaging	Het
Kctd16	T	C	18: 40,391,996 (GRCm39)	C195R	probably damaging	Het
Kif28	T	A	1: 179,527,018 (GRCm39)	I718F	probably benign	Het
Lce1e	T	A	3: 92,615,240 (GRCm39)	K36*	probably null	Het
Map4	T	C	9: 109,863,687 (GRCm39)	L304P	probably benign	Het
Mettl17	C	T	14: 52,129,074 (GRCm39)		probably benign	Het
Mpp4	T	C	1: 59,160,518 (GRCm39)	D595G	probably damaging	Het
Myo18a	A	G	11: 77,732,349 (GRCm39)	K1282E	probably damaging	Het
Nf2	A	T	11: 4,766,137 (GRCm39)	V131D	possibly damaging	Het
Or7g35	T	C	9: 19,496,730 (GRCm39)	V299A	probably benign	Het
Or8b3	A	T	9: 38,314,916 (GRCm39)	M249L	probably benign	Het
Oxsr1	A	G	9: 119,093,843 (GRCm39)	L270S	probably benign	Het
Plekhg2	G	A	7: 28,062,309 (GRCm39)	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363 (GRCm39)	V306D	probably benign	Het
Ptk6	C	T	2: 180,837,605 (GRCm39)	C438Y	probably benign	Het
Scfd1	T	C	12: 51,492,461 (GRCm39)	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,695,531 (GRCm39)	S337P	probably damaging	Het
Skor2	T	A	18: 76,946,622 (GRCm39)	C115S	unknown	Het
Slc2a7	T	C	4: 150,249,629 (GRCm39)	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,955,683 (GRCm39)	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,182,893 (GRCm39)	D145G	possibly damaging	Het
Spata6	C	A	4: 111,632,024 (GRCm39)	T145K	probably damaging	Het
Stab1	C	T	14: 30,863,501 (GRCm39)	R2087H	probably benign	Het
Stk24	C	T	14: 121,539,657 (GRCm39)	V180M	probably benign	Het
Trrap	A	G	5: 144,781,051 (GRCm39)	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,647,147 (GRCm39)	W755R	probably damaging	Het
Ush2a	T	C	1: 188,689,711 (GRCm39)		probably null	Het
Uts2b	T	C	16: 27,179,793 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,889 (GRCm39)	H729L	probably damaging	Het
Vps35l	T	A	7: 118,409,144 (GRCm39)	V635D	probably damaging	Het
Wdfy3	T	C	5: 101,999,225 (GRCm39)	I3068V	probably benign	Het
Zfp457	G	A	13: 67,441,763 (GRCm39)	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,592,712 (GRCm39)	D40G	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
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'- TCTAGGAGTTGGTGGCACAG -3'
(R):5'- ACTCTATTTAGGGCTGATGCTAGTTC -3'

Sequencing Primer
(F):5'- TGGCACAGCATGAGGTCAC -3'
(R):5'- GGGCTGATGCTAGTTCAAAAATCTG -3'

Posted On

2017-06-26