Mutagenetix > Incidental Mutations

Incidental Mutation 'R1452:Cyp2c55'

161105

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c55

Ensembl Gene

ENSMUSG00000025002

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 55

Synonyms

2010318C06Rik

MMRRC Submission

039507-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39007019-39042693 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39011090 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 80 (Y80C)

Ref Sequence

ENSEMBL: ENSMUSP00000025966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025966]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025966
AA Change: Y80C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025966
Gene: ENSMUSG00000025002
AA Change: Y80C

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
Pfam:p450	30	487	1.1e-154	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175562

Meta Mutation Damage Score

0.4469

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

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 but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,152,939	Y415C	probably damaging	Het
2810474O19Rik	A	T	6: 149,326,632	K392I	probably damaging	Het
A2m	A	G	6: 121,678,056	I1446M	probably benign	Het
Acaca	T	A	11: 84,295,059		probably benign	Het
Adgre4	A	T	17: 55,784,996	E85D	probably benign	Het
Akt3	A	T	1: 177,131,067	Y26N	possibly damaging	Het
Arl15	T	C	13: 113,967,783	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,098,137		probably benign	Het
Atrip	T	A	9: 109,072,659	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,282,239		probably benign	Het
Cd53	C	T	3: 106,768,959	G31S	probably damaging	Het
Cdk14	T	C	5: 4,888,927	S404G	possibly damaging	Het
Cers3	A	T	7: 66,783,404	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,504,153	L448M	probably damaging	Het
Cox15	G	T	19: 43,746,905	T141K	probably damaging	Het
Csnk2a2	C	T	8: 95,457,375		probably benign	Het
Cyp2b10	A	T	7: 25,925,388		probably benign	Het
Depdc1a	A	G	3: 159,526,691	Y693C	possibly damaging	Het
Des	T	C	1: 75,363,477	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,249,863		probably benign	Het
Eif3m	T	A	2: 105,006,777	Q199L	probably damaging	Het
Emsy	G	T	7: 98,600,674	T802K	probably damaging	Het
Endov	A	G	11: 119,491,825	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,549,166	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,318,402	I363V	probably benign	Het
Gm8674	C	T	13: 49,900,517		noncoding transcript	Het
Gm9733	G	T	3: 15,332,152	T24K	unknown	Het
Il6st	T	A	13: 112,481,464	N137K	possibly damaging	Het
Inf2	A	G	12: 112,601,344	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,559	I376N	probably benign	Het
Kansl3	A	G	1: 36,354,793		probably benign	Het
Kbtbd2	A	T	6: 56,781,924	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,453,327	Y140*	probably null	Het
Macf1	T	A	4: 123,493,998	I924L	probably benign	Het
Mcoln2	A	T	3: 146,181,814	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,381,520	L621Q	probably damaging	Het
Mut	A	G	17: 40,937,468		probably benign	Het
Ncor1	T	C	11: 62,334,631	H1038R	probably damaging	Het
Neb	A	G	2: 52,271,297		probably null	Het
Ngrn	A	G	7: 80,264,772	T224A	probably benign	Het
Nin	G	A	12: 70,017,650	R2019*	probably null	Het
Nphp4	C	G	4: 152,547,018	Q792E	probably damaging	Het
Olfr1047	T	A	2: 86,228,455	N172I	probably damaging	Het
Olfr1166	C	T	2: 88,124,311	V225I	probably benign	Het
Olfr140	C	T	2: 90,051,671	V218I	possibly damaging	Het
Olfr373	C	T	8: 72,100,176	Q139*	probably null	Het
Olfr70	C	T	4: 43,696,823	V117M	probably benign	Het
Pde4dip	C	A	3: 97,724,102	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067		probably benign	Het
Pole2	G	A	12: 69,207,929	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,469,536		probably benign	Het
Prim2	T	A	1: 33,630,404	E163D	probably benign	Het
Prrc2b	A	T	2: 32,194,985	D296V	probably damaging	Het
Pter	A	G	2: 12,978,621		probably benign	Het
Robo2	C	A	16: 73,961,910	V662L	probably damaging	Het
Slco1b2	A	T	6: 141,672,200	I424F	probably benign	Het
Snx29	A	T	16: 11,631,471	H260L	probably damaging	Het
Stil	A	G	4: 115,039,195	N959S	probably benign	Het
Taar8c	A	T	10: 24,101,610	D101E	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,147	M573I	probably damaging	Het
Tsr1	A	T	11: 74,899,599	D171V	probably benign	Het
Ube4b	T	C	4: 149,371,169	T348A	probably damaging	Het
Vmn1r85	A	T	7: 13,084,881	I112N	probably damaging	Het
Vps36	A	G	8: 22,218,210		probably null	Het
Wdfy3	G	A	5: 101,937,738	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,876,800	D14E	probably null	Het
Ylpm1	T	C	12: 85,030,383	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,955,075	F378L	probably benign	Het

Other mutations in Cyp2c55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Cyp2c55	APN	19	39011746	missense	probably benign	0.41
IGL00537:Cyp2c55	APN	19	39011706	missense	possibly damaging	0.93
IGL00959:Cyp2c55	APN	19	39038143	missense	probably benign	0.00
IGL01140:Cyp2c55	APN	19	39018649	missense	probably benign
IGL01792:Cyp2c55	APN	19	39042187	missense	probably benign
PIT4453001:Cyp2c55	UTSW	19	39011791	missense	probably damaging	1.00
R0472:Cyp2c55	UTSW	19	39031379	missense	probably benign	0.01
R1468:Cyp2c55	UTSW	19	39011081	missense	probably damaging	0.96
R1468:Cyp2c55	UTSW	19	39011081	missense	probably damaging	0.96
R1925:Cyp2c55	UTSW	19	39034377	missense	probably benign	0.06
R2154:Cyp2c55	UTSW	19	39034375	missense	probably damaging	1.00
R3814:Cyp2c55	UTSW	19	39007065	missense	probably damaging	1.00
R4021:Cyp2c55	UTSW	19	39035434	splice site	probably null
R4022:Cyp2c55	UTSW	19	39035434	splice site	probably null
R4293:Cyp2c55	UTSW	19	39011791	missense	probably damaging	1.00
R4294:Cyp2c55	UTSW	19	39011791	missense	probably damaging	1.00
R4604:Cyp2c55	UTSW	19	39031386	missense	possibly damaging	0.82
R4740:Cyp2c55	UTSW	19	39018729	missense	probably benign
R4756:Cyp2c55	UTSW	19	39031371	missense	probably damaging	1.00
R4879:Cyp2c55	UTSW	19	39042078	frame shift	probably null
R5039:Cyp2c55	UTSW	19	39038143	missense	probably benign	0.00
R5672:Cyp2c55	UTSW	19	39035546	missense	probably benign	0.02
R5834:Cyp2c55	UTSW	19	39042067	missense	probably benign	0.00
R6198:Cyp2c55	UTSW	19	39007121	nonsense	probably null
R6255:Cyp2c55	UTSW	19	39018667	missense	probably benign	0.25
R6431:Cyp2c55	UTSW	19	39031409	missense	probably damaging	0.99
R6565:Cyp2c55	UTSW	19	39042122	missense	probably benign	0.09
R7934:Cyp2c55	UTSW	19	39042091	missense	probably damaging	1.00
R8477:Cyp2c55	UTSW	19	39011041	missense	probably damaging	0.97
X0062:Cyp2c55	UTSW	19	39018689	missense	probably damaging	0.98
Z1176:Cyp2c55	UTSW	19	39035513	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCGTTGCCCAAGTATCAGAGATTCAC -3'
(R):5'- TGTCTAGTCCCTATGATCCATGCTCAG -3'

Sequencing Primer
(F):5'- CTTCAAAGTGTCACAGTTCGG -3'
(R):5'- CCTATGATCCATGCTCAGCATAC -3'

Posted On

2014-03-14