Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03027:Cyp2f2'

408222

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2f2

Ensembl Gene

ENSMUSG00000052974

Gene Name

cytochrome P450, family 2, subfamily f, polypeptide 2

Synonyms

Cyp2f

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL03027

Quality Score

Status

Chromosome

Chromosomal Location

26819380-26833085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26831996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 417 (N417I)

Ref Sequence

ENSEMBL: ENSMUSP00000003100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003100] [ENSMUST00000206552]

AlphaFold

P33267

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003100
AA Change: N417I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003100
Gene: ENSMUSG00000052974
AA Change: N417I

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:p450	31	488	3.7e-152	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153562

Predicted Effect

probably benign
Transcript: ENSMUST00000206552

Coding Region Coverage

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. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to napthalene-induced toxicity in the lungs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	A	T	17: 43,607,605 (GRCm39)	Y108F	probably damaging	Het
Afap1	T	C	5: 36,119,094 (GRCm39)	I243T	probably benign	Het
Ano5	A	G	7: 51,216,025 (GRCm39)	D320G	probably damaging	Het
Arhgef1	T	A	7: 24,623,157 (GRCm39)	I423K	probably damaging	Het
Casp9	A	G	4: 141,539,584 (GRCm39)	E410G	probably benign	Het
Ccdc39	A	C	3: 33,884,267 (GRCm39)	H358Q	probably benign	Het
Ces5a	A	T	8: 94,249,742 (GRCm39)		probably null	Het
Clip1	A	T	5: 123,759,919 (GRCm39)	M935K	probably benign	Het
Col12a1	A	G	9: 79,548,833 (GRCm39)	Y2171H	probably benign	Het
Dock3	G	A	9: 106,870,677 (GRCm39)	P579L	probably damaging	Het
Dock7	T	C	4: 98,866,164 (GRCm39)	M1209V	probably benign	Het
Dock7	T	C	4: 98,958,450 (GRCm39)	T334A	possibly damaging	Het
Dst	A	T	1: 34,225,106 (GRCm39)	I1171F	possibly damaging	Het
Eya1	G	T	1: 14,241,190 (GRCm39)	H576N	probably damaging	Het
Fam117a	A	G	11: 95,268,399 (GRCm39)	T267A	probably benign	Het
Fam43a	C	T	16: 30,419,922 (GRCm39)	R169C	probably damaging	Het
Gabra6	T	C	11: 42,205,980 (GRCm39)	H291R	probably damaging	Het
Gm7145	T	C	1: 117,895,417 (GRCm39)	S27P	probably benign	Het
Gpt	C	T	15: 76,582,289 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,755,852 (GRCm39)	I586T	probably benign	Het
Hif1a	C	T	12: 73,987,251 (GRCm39)	P448L	probably benign	Het
Hmcn1	C	T	1: 150,684,290 (GRCm39)	V427I	probably benign	Het
Ipo8	C	A	6: 148,678,737 (GRCm39)	V954L	probably benign	Het
Kdm5a	G	T	6: 120,351,951 (GRCm39)		probably null	Het
Klhl36	T	A	8: 120,603,229 (GRCm39)	S495T	probably benign	Het
Lpar5	T	A	6: 125,059,203 (GRCm39)	L308Q	probably damaging	Het
Lrp2	T	G	2: 69,367,897 (GRCm39)	D205A	probably benign	Het
Lrriq1	A	G	10: 103,063,057 (GRCm39)	I83T	probably benign	Het
Mapk8ip2	A	T	15: 89,342,310 (GRCm39)	D507V	probably damaging	Het
Mical1	T	C	10: 41,355,501 (GRCm39)		probably benign	Het
Myef2	T	A	2: 124,930,954 (GRCm39)	H539L	possibly damaging	Het
Myh7	T	C	14: 55,221,007 (GRCm39)	E972G	probably damaging	Het
Naip5	A	G	13: 100,359,524 (GRCm39)	Y571H	probably benign	Het
Nfasc	T	A	1: 132,538,207 (GRCm39)	N478I	probably damaging	Het
Or6c1b	A	G	10: 129,272,780 (GRCm39)	Y33C	probably damaging	Het
Pde2a	A	T	7: 101,130,627 (GRCm39)	Q89L	probably benign	Het
Ppard	C	A	17: 28,518,765 (GRCm39)	T422K	possibly damaging	Het
Ppp1r13b	G	T	12: 111,796,830 (GRCm39)	Y904*	probably null	Het
Ptx4	T	A	17: 25,344,022 (GRCm39)	I424K	possibly damaging	Het
Rab19	A	G	6: 39,360,927 (GRCm39)	D25G	probably damaging	Het
Rbl2	T	A	8: 91,805,534 (GRCm39)	I197N	possibly damaging	Het
Rttn	A	G	18: 88,997,814 (GRCm39)	D273G	probably damaging	Het
Sec16a	G	A	2: 26,313,601 (GRCm39)	R1920C	probably benign	Het
Sec23b	A	T	2: 144,429,465 (GRCm39)	N731I	possibly damaging	Het
Serpinb9d	G	A	13: 33,386,698 (GRCm39)	W255*	probably null	Het
Sim2	G	A	16: 93,910,351 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,920,167 (GRCm39)		probably null	Het
Tmem176b	C	T	6: 48,812,573 (GRCm39)	A131T	probably damaging	Het
Tmem181a	T	A	17: 6,348,494 (GRCm39)	V332D	probably damaging	Het
Trgc1	G	T	13: 19,398,563 (GRCm39)	G97*	probably null	Het
Tuba3b	T	A	6: 145,565,117 (GRCm39)	L195Q	probably damaging	Het
Ubc	A	T	5: 125,464,565 (GRCm39)	V254D	probably damaging	Het
Ube4b	G	T	4: 149,465,734 (GRCm39)	P239T	probably damaging	Het
Vars1	G	T	17: 35,232,663 (GRCm39)	M862I	probably damaging	Het
Vmn2r66	T	C	7: 84,644,777 (GRCm39)		probably benign	Het
Wdr59	G	A	8: 112,188,824 (GRCm39)	A720V	probably damaging	Het
Zfhx3	G	A	8: 109,519,820 (GRCm39)	R314Q	probably damaging	Het

Other mutations in Cyp2f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Cyp2f2	APN	7	26,821,354 (GRCm39)	missense	probably damaging	0.98
IGL00953:Cyp2f2	APN	7	26,829,242 (GRCm39)	missense	possibly damaging	0.47
IGL01781:Cyp2f2	APN	7	26,829,846 (GRCm39)	missense	probably benign	0.20
IGL02817:Cyp2f2	APN	7	26,828,740 (GRCm39)	missense	probably damaging	1.00
R0464:Cyp2f2	UTSW	7	26,831,962 (GRCm39)	missense	probably benign	0.00
R1481:Cyp2f2	UTSW	7	26,821,302 (GRCm39)	missense	probably benign	0.00
R1635:Cyp2f2	UTSW	7	26,829,149 (GRCm39)	missense	probably benign	0.11
R1826:Cyp2f2	UTSW	7	26,831,987 (GRCm39)	missense	probably damaging	1.00
R1989:Cyp2f2	UTSW	7	26,828,628 (GRCm39)	missense	probably damaging	1.00
R5098:Cyp2f2	UTSW	7	26,829,304 (GRCm39)	missense	possibly damaging	0.52
R6305:Cyp2f2	UTSW	7	26,828,649 (GRCm39)	missense	probably damaging	1.00
R6472:Cyp2f2	UTSW	7	26,828,649 (GRCm39)	missense	probably damaging	1.00
R7132:Cyp2f2	UTSW	7	26,831,993 (GRCm39)	missense	probably benign	0.00
R7599:Cyp2f2	UTSW	7	26,830,784 (GRCm39)	critical splice donor site	probably null
R7814:Cyp2f2	UTSW	7	26,828,678 (GRCm39)	missense	probably benign	0.00
R7823:Cyp2f2	UTSW	7	26,828,678 (GRCm39)	missense	probably benign	0.00
R7824:Cyp2f2	UTSW	7	26,828,678 (GRCm39)	missense	probably benign	0.00
R7825:Cyp2f2	UTSW	7	26,828,678 (GRCm39)	missense	probably benign	0.00
R8141:Cyp2f2	UTSW	7	26,828,678 (GRCm39)	missense	probably benign	0.00
R8142:Cyp2f2	UTSW	7	26,828,678 (GRCm39)	missense	probably benign	0.00
R8143:Cyp2f2	UTSW	7	26,828,678 (GRCm39)	missense	probably benign	0.00
R8351:Cyp2f2	UTSW	7	26,821,294 (GRCm39)	missense	probably damaging	1.00
R8809:Cyp2f2	UTSW	7	26,831,995 (GRCm39)	missense	probably damaging	0.99
R9095:Cyp2f2	UTSW	7	26,830,667 (GRCm39)	missense	possibly damaging	0.83
R9548:Cyp2f2	UTSW	7	26,829,170 (GRCm39)	missense	probably benign	0.45
R9726:Cyp2f2	UTSW	7	26,821,411 (GRCm39)	missense	probably damaging	0.99
X0064:Cyp2f2	UTSW	7	26,832,709 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp2f2	UTSW	7	26,821,332 (GRCm39)	missense	possibly damaging	0.52

Posted On

2016-08-02