Mutagenetix > Incidental Mutation

Incidental Mutation 'R4208:Cyp2c65'

319050

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c65

Ensembl Gene

ENSMUSG00000067231

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 65

Synonyms

2210009K14Rik

MMRRC Submission

041037-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39049459-39082388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39079099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 393 (S393P)

Ref Sequence

ENSEMBL: ENSMUSP00000084489 (fasta)

Gene Model

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

AlphaFold

Q148B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000087236
AA Change: S393P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084489
Gene: ENSMUSG00000067231
AA Change: S393P

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

0.8004

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,910,060 (GRCm39)	L284P	probably benign	Het
Abca8b	G	A	11: 109,872,551 (GRCm39)	Q17*	probably null	Het
Abcc6	A	C	7: 45,635,987 (GRCm39)	L1020R	probably damaging	Het
Ace2	A	G	X: 162,952,581 (GRCm39)	I110V	probably benign	Het
Adamts12	A	G	15: 11,071,840 (GRCm39)	H128R	probably benign	Het
Aoc1l2	A	T	6: 48,908,581 (GRCm39)	D527V	probably damaging	Het
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
B4galnt3	A	G	6: 120,192,063 (GRCm39)	S557P	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Casp12	T	C	9: 5,346,629 (GRCm39)	L52P	probably damaging	Het
Cep126	C	T	9: 8,100,822 (GRCm39)	E571K	probably damaging	Het
Cfhr1	A	G	1: 139,475,616 (GRCm39)		probably benign	Het
Cmah	A	G	13: 24,601,410 (GRCm39)		probably null	Het
Col10a1	C	T	10: 34,271,539 (GRCm39)	P504S	probably damaging	Het
Ctnna3	T	A	10: 64,795,557 (GRCm39)	D758E	probably benign	Het
Dclk2	A	G	3: 86,738,129 (GRCm39)		probably null	Het
Dis3	T	G	14: 99,332,752 (GRCm39)	I227L	probably benign	Het
Efhc2	T	C	X: 17,096,789 (GRCm39)	N186S	possibly damaging	Het
F13b	G	T	1: 139,444,079 (GRCm39)	W471L	probably damaging	Het
Fam181a	A	G	12: 103,282,173 (GRCm39)	D26G	probably damaging	Het
Gabpb2	A	G	3: 95,111,245 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,879 (GRCm39)		noncoding transcript	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Ino80b	G	C	6: 83,099,314 (GRCm39)	P178R	probably damaging	Het
Kif3b	G	A	2: 153,165,477 (GRCm39)	R628Q	probably damaging	Het
Lars1	T	C	18: 42,362,768 (GRCm39)	E557G	probably benign	Het
Ldlrad3	C	T	2: 101,783,507 (GRCm39)	D240N	probably damaging	Het
Lingo2	T	C	4: 35,709,810 (GRCm39)	I57V	probably benign	Het
Lsr	A	G	7: 30,672,519 (GRCm39)	I27T	probably benign	Het
Me2	T	C	18: 73,924,156 (GRCm39)	K352R	probably benign	Het
Met	T	C	6: 17,548,728 (GRCm39)	V924A	possibly damaging	Het
Mpp3	T	C	11: 101,891,426 (GRCm39)	T571A	probably benign	Het
Or4c1	A	T	2: 89,133,270 (GRCm39)	I222N	probably damaging	Het
Or52n3	A	G	7: 104,530,810 (GRCm39)	T299A	probably damaging	Het
Padi1	C	A	4: 140,544,538 (GRCm39)	V552L	possibly damaging	Het
Pfkfb1	A	T	X: 149,405,184 (GRCm39)	D208V	possibly damaging	Het
Rnase4	A	G	14: 51,342,462 (GRCm39)	K62R	probably benign	Het
RP24-126A19.1	C	A	5: 146,832,606 (GRCm39)	R123L	noncoding transcript	Het
Scn10a	T	A	9: 119,445,842 (GRCm39)	E1438V	probably damaging	Het
Sfmbt2	T	A	2: 10,547,793 (GRCm39)	D458E	probably damaging	Het
Slitrk3	T	A	3: 72,958,490 (GRCm39)	Y94F	possibly damaging	Het
Sstr2	A	C	11: 113,515,482 (GRCm39)	T134P	probably damaging	Het
Steap4	A	G	5: 8,030,404 (GRCm39)	Y420C	probably damaging	Het
Tamm41	AGGG	AGG	6: 114,989,320 (GRCm39)		probably benign	Het
Trav7-3	A	G	14: 53,681,203 (GRCm39)	T82A	probably benign	Het
Trbv23	A	T	6: 41,193,022 (GRCm39)	I6F	probably benign	Het
Vmn1r87	A	G	7: 12,866,185 (GRCm39)	V34A	probably benign	Het
Zc3h7a	C	T	16: 10,982,508 (GRCm39)	E6K	possibly damaging	Het
Zfp606	G	A	7: 12,228,102 (GRCm39)	C683Y	probably damaging	Het

Other mutations in Cyp2c65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Cyp2c65	APN	19	39,060,621 (GRCm39)	critical splice acceptor site	probably null
IGL01124:Cyp2c65	APN	19	39,081,954 (GRCm39)	utr 3 prime	probably benign
IGL01895:Cyp2c65	APN	19	39,060,676 (GRCm39)	missense	possibly damaging	0.90
IGL02544:Cyp2c65	APN	19	39,079,082 (GRCm39)	missense	probably damaging	1.00
R0172:Cyp2c65	UTSW	19	39,076,100 (GRCm39)	missense	possibly damaging	0.86
R0378:Cyp2c65	UTSW	19	39,061,662 (GRCm39)	missense	probably benign	0.19
R0517:Cyp2c65	UTSW	19	39,070,792 (GRCm39)	splice site	probably benign
R0585:Cyp2c65	UTSW	19	39,057,686 (GRCm39)	missense	probably benign	0.00
R1770:Cyp2c65	UTSW	19	39,070,642 (GRCm39)	missense	probably benign	0.07
R2051:Cyp2c65	UTSW	19	39,070,675 (GRCm39)	missense	probably benign	0.12
R2310:Cyp2c65	UTSW	19	39,081,826 (GRCm39)	missense	probably benign	0.02
R2911:Cyp2c65	UTSW	19	39,076,126 (GRCm39)	missense	probably damaging	0.96
R4258:Cyp2c65	UTSW	19	39,081,872 (GRCm39)	missense	probably benign	0.41
R4734:Cyp2c65	UTSW	19	39,060,778 (GRCm39)	missense	probably benign	0.00
R4821:Cyp2c65	UTSW	19	39,060,635 (GRCm39)	missense	probably damaging	1.00
R4926:Cyp2c65	UTSW	19	39,049,597 (GRCm39)	missense	probably benign	0.00
R5060:Cyp2c65	UTSW	19	39,049,514 (GRCm39)	missense	unknown
R5091:Cyp2c65	UTSW	19	39,076,009 (GRCm39)	critical splice acceptor site	probably null
R5433:Cyp2c65	UTSW	19	39,081,928 (GRCm39)	missense	probably benign	0.00
R6051:Cyp2c65	UTSW	19	39,049,610 (GRCm39)	missense	probably benign	0.29
R6182:Cyp2c65	UTSW	19	39,049,606 (GRCm39)	missense	probably benign	0.18
R6400:Cyp2c65	UTSW	19	39,049,558 (GRCm39)	missense	possibly damaging	0.80
R6586:Cyp2c65	UTSW	19	39,070,662 (GRCm39)	missense	possibly damaging	0.89
R6672:Cyp2c65	UTSW	19	39,076,118 (GRCm39)	missense	probably damaging	1.00
R6850:Cyp2c65	UTSW	19	39,057,535 (GRCm39)	missense	probably benign	0.15
R8075:Cyp2c65	UTSW	19	39,060,682 (GRCm39)	missense	probably benign	0.10
R8756:Cyp2c65	UTSW	19	39,049,552 (GRCm39)	nonsense	probably null
R9006:Cyp2c65	UTSW	19	39,070,714 (GRCm39)	missense	probably damaging	1.00
R9031:Cyp2c65	UTSW	19	39,061,663 (GRCm39)	nonsense	probably null
R9231:Cyp2c65	UTSW	19	39,060,661 (GRCm39)	missense	possibly damaging	0.92
R9663:Cyp2c65	UTSW	19	39,079,070 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTACTGCCAGTGGACTACTTC -3'
(R):5'- TAAGCCTCAGGGAGTATTGTGAAAG -3'

Sequencing Primer
(F):5'- AACCCATCCCTTTGTGTTTCATGAC -3'
(R):5'- GAGGGGTTGGAAATATTGTAAGATTC -3'

Posted On

2015-06-10