Mutagenetix > Incidental Mutations

Incidental Mutation 'R0378:Cyp2c65'

36492

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c65

Ensembl Gene

ENSMUSG00000067231

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 65

Synonyms

MMRRC Submission

038584-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R0378 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

39061015-39093944 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39073218 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 216 (C216F)

Ref Sequence

ENSEMBL: ENSMUSP00000084489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087236]

Predicted Effect

probably benign
Transcript: ENSMUST00000087236
AA Change: C216F

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084489
Gene: ENSMUSG00000067231
AA Change: C216F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	2.1e-160	PFAM

Meta Mutation Damage Score

0.1387

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 94.8%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 113,743,117	R651L	probably damaging	Het
Amd1	T	C	10: 40,289,384	D317G	possibly damaging	Het
Artn	A	G	4: 117,927,618		probably benign	Het
Asna1	A	T	8: 85,025,264	M1K	probably null	Het
Bub1b	T	A	2: 118,641,123	V988E	probably benign	Het
Cyp3a11	T	C	5: 145,868,607	E200G	probably benign	Het
Cyp3a25	T	A	5: 145,986,842	K330N	probably damaging	Het
Duox2	C	A	2: 122,284,583	V1138L	probably benign	Het
Erc2	A	G	14: 28,011,694	D567G	probably damaging	Het
Eri2	A	G	7: 119,793,916		probably null	Het
Foxa3	A	G	7: 19,023,369	Y17H	probably damaging	Het
Fto	T	C	8: 91,474,312	S324P	probably damaging	Het
Gls2	T	G	10: 128,207,311	L457R	probably benign	Het
Gstcd	A	T	3: 132,986,408	L582H	probably damaging	Het
Gtf3c1	G	A	7: 125,647,614	R1508*	probably null	Het
Kif21a	T	C	15: 90,969,774		probably null	Het
Klra5	A	T	6: 129,906,614	D93E	possibly damaging	Het
Lgr5	T	C	10: 115,454,499	D456G	probably damaging	Het
Mau2	A	G	8: 70,030,655	S186P	probably damaging	Het
Msr1	T	C	8: 39,589,382	D384G	possibly damaging	Het
Mum1	C	A	10: 80,238,879		probably null	Het
Ncf4	T	C	15: 78,253,303	V93A	probably damaging	Het
Oas1f	T	G	5: 120,856,426	C337G	probably damaging	Het
Olfr119	A	G	17: 37,701,041	M124V	probably damaging	Het
Olfr482	A	T	7: 108,095,222	F116Y	probably benign	Het
Olfr820	T	A	10: 130,018,003	L214H	probably damaging	Het
Rasl10b	T	C	11: 83,418,693	S159P	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Smg8	C	A	11: 87,080,423	D841Y	probably damaging	Het
Sox7	T	C	14: 63,943,949	V65A	probably damaging	Het
Sp140	C	T	1: 85,620,051		probably benign	Het
Srsf10	A	G	4: 135,863,190	Y142C	possibly damaging	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcerg1l	A	G	7: 138,276,655	V326A	probably benign	Het
Tcl1b5	T	A	12: 105,179,067	W97R	probably damaging	Het
Tmem108	T	C	9: 103,499,657	R198G	possibly damaging	Het
Ube2ql1	T	A	13: 69,738,898	Q148L	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,585	I82L	probably benign	Het
Wdr6	A	T	9: 108,575,864	S273R	probably damaging	Het
Ylpm1	C	T	12: 84,997,076		probably benign	Het
Zfp90	G	A	8: 106,425,506	R617Q	possibly damaging	Het

Other mutations in Cyp2c65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Cyp2c65	APN	19	39072177	critical splice acceptor site	probably null
IGL01124:Cyp2c65	APN	19	39093510	utr 3 prime	probably benign
IGL01895:Cyp2c65	APN	19	39072232	missense	possibly damaging	0.90
IGL02544:Cyp2c65	APN	19	39090638	missense	probably damaging	1.00
R0172:Cyp2c65	UTSW	19	39087656	missense	possibly damaging	0.86
R0517:Cyp2c65	UTSW	19	39082348	splice site	probably benign
R0585:Cyp2c65	UTSW	19	39069242	missense	probably benign	0.00
R1770:Cyp2c65	UTSW	19	39082198	missense	probably benign	0.07
R2051:Cyp2c65	UTSW	19	39082231	missense	probably benign	0.12
R2310:Cyp2c65	UTSW	19	39093382	missense	probably benign	0.02
R2911:Cyp2c65	UTSW	19	39087682	missense	probably damaging	0.96
R4208:Cyp2c65	UTSW	19	39090655	missense	probably damaging	1.00
R4258:Cyp2c65	UTSW	19	39093428	missense	probably benign	0.41
R4734:Cyp2c65	UTSW	19	39072334	missense	probably benign	0.00
R4821:Cyp2c65	UTSW	19	39072191	missense	probably damaging	1.00
R4926:Cyp2c65	UTSW	19	39061153	missense	probably benign	0.00
R5060:Cyp2c65	UTSW	19	39061070	missense	unknown
R5091:Cyp2c65	UTSW	19	39087565	critical splice acceptor site	probably null
R5433:Cyp2c65	UTSW	19	39093484	missense	probably benign	0.00
R6051:Cyp2c65	UTSW	19	39061166	missense	probably benign	0.29
R6182:Cyp2c65	UTSW	19	39061162	missense	probably benign	0.18
R6400:Cyp2c65	UTSW	19	39061114	missense	possibly damaging	0.80
R6586:Cyp2c65	UTSW	19	39082218	missense	possibly damaging	0.89
R6672:Cyp2c65	UTSW	19	39087674	missense	probably damaging	1.00
R6850:Cyp2c65	UTSW	19	39069091	missense	probably benign	0.15
R8075:Cyp2c65	UTSW	19	39072238	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GCTAGGAACCCTGGAGTACAGCATTG -3'
(R):5'- GCTGGTCTGAGCCATTAAAATCTCCC -3'

Sequencing Primer
(F):5'- TGGTCTGCACAGGTTCACAG -3'
(R):5'- TGTAAACACAGACAATTCATGGGAC -3'

Posted On

2013-05-09