Mutagenetix > Incidental Mutation

Incidental Mutation 'R6305:Cyp2f2'

509588

Institutional Source

Beutler Lab

Gene Symbol

Cyp2f2

Ensembl Gene

ENSMUSG00000052974

Gene Name

cytochrome P450, family 2, subfamily f, polypeptide 2

Synonyms

Cyp2f

MMRRC Submission

044411-MU

Accession Numbers

Essential gene?

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

Stock #

R6305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26819380-26833085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26828649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 173 (R173H)

Ref Sequence

ENSEMBL: ENSMUSP00000003100 (fasta)

Gene Model

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

AlphaFold

P33267

Predicted Effect

probably damaging
Transcript: ENSMUST00000003100
AA Change: R173H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003100
Gene: ENSMUSG00000052974
AA Change: R173H

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: ENSMUST00000133841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153562

Predicted Effect

probably benign
Transcript: ENSMUST00000206552
AA Change: R97H

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (61/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,741 (GRCm39)	S977P	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Adcy6	T	A	15: 98,496,526 (GRCm39)	I550L	probably benign	Het
Agbl3	G	A	6: 34,759,145 (GRCm39)	D19N	unknown	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgap39	T	A	15: 76,621,902 (GRCm39)	D233V	probably benign	Het
Bcl9	G	A	3: 97,113,254 (GRCm39)	P1067L	possibly damaging	Het
Casd1	C	T	6: 4,641,892 (GRCm39)	T723I	probably damaging	Het
Cd209g	T	A	8: 4,186,809 (GRCm39)	I118N	probably benign	Het
Cdh24	A	T	14: 54,869,813 (GRCm39)	D701E	possibly damaging	Het
Chd9	C	T	8: 91,757,174 (GRCm39)	P1858S	possibly damaging	Het
Csnk1g3	T	A	18: 54,065,384 (GRCm39)	Y322*	probably null	Het
D130043K22Rik	T	C	13: 25,069,668 (GRCm39)	F909S	probably damaging	Het
Dll4	T	A	2: 119,161,138 (GRCm39)	S299T	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg4	T	A	18: 20,582,847 (GRCm39)	Y162N	probably damaging	Het
Enpp1	T	C	10: 24,517,780 (GRCm39)	Y882C	probably damaging	Het
Fbxw7	T	A	3: 84,883,630 (GRCm39)	N520K	probably damaging	Het
Galc	C	T	12: 98,225,549 (GRCm39)	A14T	possibly damaging	Het
Grm7	G	A	6: 111,335,626 (GRCm39)	R679Q	probably damaging	Het
Hnrnpdl	T	C	5: 100,186,517 (GRCm39)		probably benign	Het
Il12a	A	T	3: 68,601,511 (GRCm39)	K77N	possibly damaging	Het
Il17rd	C	T	14: 26,817,899 (GRCm39)	S196L	possibly damaging	Het
Kcnv2	T	C	19: 27,301,237 (GRCm39)	F363L	probably benign	Het
Lair1	A	G	7: 4,013,727 (GRCm39)		probably null	Het
Lrit3	G	A	3: 129,594,109 (GRCm39)	T156I	probably damaging	Het
Me2	T	A	18: 73,924,915 (GRCm39)	R267S	probably benign	Het
Mga	T	C	2: 119,778,179 (GRCm39)	V1908A	probably benign	Het
Mylk3	T	A	8: 86,077,048 (GRCm39)	I463F	probably damaging	Het
Neb	G	A	2: 52,141,775 (GRCm39)	R75*	probably null	Het
Niban1	T	C	1: 151,571,469 (GRCm39)	L248P	probably damaging	Het
Or10a3b	C	T	7: 108,444,761 (GRCm39)	G152D	possibly damaging	Het
Or1j11	T	A	2: 36,311,634 (GRCm39)	S75T	probably damaging	Het
Or5p50	T	G	7: 107,421,864 (GRCm39)	T271P	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TG	TGGTGTTGG	9: 37,937,838 (GRCm39)		probably null	Het
Or8k33	A	G	2: 86,383,839 (GRCm39)	S210P	possibly damaging	Het
Pfas	A	G	11: 68,892,023 (GRCm39)	S162P	possibly damaging	Het
Pip5k1c	T	A	10: 81,151,768 (GRCm39)	V654E	probably benign	Het
Plxdc1	C	A	11: 97,829,416 (GRCm39)	C318F	probably damaging	Het
Qrfprl	A	T	6: 65,431,975 (GRCm39)	M293L	probably benign	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rexo5	A	T	7: 119,427,348 (GRCm39)	K419N	probably damaging	Het
Septin4	C	T	11: 87,458,145 (GRCm39)	T173M	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc24a4	C	A	12: 102,188,360 (GRCm39)	T151K	possibly damaging	Het
Slc6a15	A	T	10: 103,225,031 (GRCm39)	I40F	probably benign	Het
Slc6a21	T	C	7: 44,930,028 (GRCm39)	V172A	possibly damaging	Het
Thrap3	A	G	4: 126,074,600 (GRCm39)		probably benign	Het
Tm9sf3	A	G	19: 41,233,881 (GRCm39)		probably null	Het
Trp53	A	T	11: 69,479,533 (GRCm39)	H211L	probably damaging	Het
Ttc21b	A	T	2: 66,018,614 (GRCm39)	N1264K	probably damaging	Het
Vmn1r120	A	T	7: 20,787,531 (GRCm39)	V60E	possibly damaging	Het
Ylpm1	A	G	12: 85,077,319 (GRCm39)	E890G	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp934	T	C	13: 62,666,370 (GRCm39)	Y102C	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGTTTTGTTGTACATGACATTGCC -3'
(R):5'- TGGACCCATGATCCCATCTG -3'

Sequencing Primer
(F):5'- GGCCTGTCATATTGCACATTG -3'
(R):5'- CATCTGGTTGACCTCCGAGTG -3'

Posted On

2018-04-02