Mutagenetix > Incidental Mutation

Incidental Mutation 'R8141:Cyp2f2'

632538

Institutional Source

Beutler Lab

Gene Symbol

Cyp2f2

Ensembl Gene

ENSMUSG00000052974

Gene Name

cytochrome P450, family 2, subfamily f, polypeptide 2

Synonyms

Cyp2f

MMRRC Submission

067569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R8141 (G1)

Quality Score

119.008

Status

Validated

Chromosome

Chromosomal Location

26819380-26833085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26828678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 183 (V183I)

Ref Sequence

ENSEMBL: ENSMUSP00000003100 (fasta)

Gene Model

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

AlphaFold

P33267

Predicted Effect

probably benign
Transcript: ENSMUST00000003100
AA Change: V183I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000003100
Gene: ENSMUSG00000052974
AA Change: V183I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206552
AA Change: V107I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.3%
20x: 90.7%

Validation Efficiency

100% (59/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,688 (GRCm39)	T229A	probably benign	Het
4930438A08Rik	A	G	11: 58,177,411 (GRCm39)	E40G		Het
Actn2	T	C	13: 12,303,516 (GRCm39)	D428G	probably damaging	Het
Arl14epl	C	A	18: 47,059,410 (GRCm39)	N8K	probably benign	Het
Bend7	T	C	2: 4,757,636 (GRCm39)	V226A	probably benign	Het
C1s1	A	T	6: 124,508,321 (GRCm39)	L556Q	probably damaging	Het
Casr	T	C	16: 36,315,173 (GRCm39)	K966E	probably damaging	Het
Ccm2l	T	C	2: 152,912,791 (GRCm39)	L110P	probably damaging	Het
Cdhr4	G	A	9: 107,873,991 (GRCm39)	R59H		Het
Celf3	C	A	3: 94,395,850 (GRCm39)	N410K	probably damaging	Het
Cfap251	T	G	5: 123,424,493 (GRCm39)	V726G	possibly damaging	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Fam53b	A	C	7: 132,361,758 (GRCm39)	V90G	probably damaging	Het
Fat3	T	A	9: 15,908,362 (GRCm39)	I2547F	possibly damaging	Het
Foxk1	A	G	5: 142,439,716 (GRCm39)	Y524C	probably damaging	Het
Gpr87	A	G	3: 59,087,020 (GRCm39)	S162P	probably damaging	Het
Ifi204	A	G	1: 173,583,189 (GRCm39)	V343A	possibly damaging	Het
Igsf10	A	G	3: 59,237,949 (GRCm39)	L744P	probably damaging	Het
Iqub	T	A	6: 24,491,608 (GRCm39)	K359N	probably benign	Het
Kdm3b	A	T	18: 34,961,599 (GRCm39)	K1459*	probably null	Het
Kirrel1	C	T	3: 86,993,735 (GRCm39)	W507*	probably null	Het
Klra17	T	C	6: 129,849,292 (GRCm39)	D94G	probably damaging	Het
Llgl1	G	C	11: 60,601,142 (GRCm39)	E693D	probably benign	Het
Lrrc37	T	C	11: 103,511,855 (GRCm39)	T38A	unknown	Het
Lypd4	A	T	7: 24,564,254 (GRCm39)	D201E	possibly damaging	Het
Nin	A	G	12: 70,076,795 (GRCm39)	S1794P		Het
Oog2	T	C	4: 143,920,777 (GRCm39)	L70P	probably damaging	Het
Or6n2	T	C	1: 173,897,488 (GRCm39)	L208P	probably damaging	Het
Pacsin1	G	T	17: 27,926,034 (GRCm39)	R282S	possibly damaging	Het
Pcdhb9	T	A	18: 37,535,361 (GRCm39)	Y452N	probably damaging	Het
Pdgfra	T	C	5: 75,338,387 (GRCm39)	V547A	possibly damaging	Het
Plcb4	T	C	2: 135,781,169 (GRCm39)	F209L	probably damaging	Het
Pnpla6	T	C	8: 3,571,384 (GRCm39)	S158P	probably benign	Het
Prlhr	C	G	19: 60,455,747 (GRCm39)	R273P	probably damaging	Het
Prss41	G	A	17: 24,056,607 (GRCm39)	P196L	probably damaging	Het
Ptgr3	T	C	18: 84,112,651 (GRCm39)	L109P	probably benign	Het
Ptpn22	A	G	3: 103,793,643 (GRCm39)	E598G	possibly damaging	Het
Rasal2	T	C	1: 156,992,240 (GRCm39)	D569G	possibly damaging	Het
Sf3b3	A	C	8: 111,547,483 (GRCm39)	M715R	possibly damaging	Het
Ska1	T	C	18: 74,339,907 (GRCm39)	N13S	probably benign	Het
Spocd1	A	C	4: 129,823,497 (GRCm39)	E98A		Het
Sycp1	G	T	3: 102,842,885 (GRCm39)	A28E	possibly damaging	Het
Syf2	C	T	4: 134,664,182 (GRCm39)	R199C	probably damaging	Het
Syne2	A	G	12: 76,108,442 (GRCm39)	D942G	possibly damaging	Het
Tamalin	T	A	15: 101,129,790 (GRCm39)	C358S	possibly damaging	Het
Tmem63a	A	G	1: 180,801,776 (GRCm39)	T764A	probably benign	Het
Ttf1	C	T	2: 28,957,238 (GRCm39)	Q503*	probably null	Het
Usp13	T	C	3: 32,949,025 (GRCm39)	V454A	possibly damaging	Het
Usp47	A	G	7: 111,652,472 (GRCm39)	T50A	possibly damaging	Het
Zfyve26	A	T	12: 79,315,331 (GRCm39)	C1382S	possibly 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
IGL03027:Cyp2f2	APN	7	26,831,996 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- ACGGTGGGTGAATTCTGAGC -3'
(R):5'- AAGTTCTGCAAGGGTGGAAC -3'

Sequencing Primer
(F):5'- TTCTGAGCAAGCAGGAATCGTG -3'
(R):5'- TCAGGAACTTGTGGCAATCC -3'

Posted On

2020-06-30