Mutagenetix > Incidental Mutations

Incidental Mutation 'R5039:Cyp2c55'

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395734

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c55

Ensembl Gene

ENSMUSG00000025002

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 55

Synonyms

2010318C06Rik

MMRRC Submission

042629-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5039 (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 39038143 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 398 (D398G)

Ref Sequence

ENSEMBL: ENSMUSP00000025966 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000025966
AA Change: D398G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000025966
Gene: ENSMUSG00000025002
AA Change: D398G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (61/61)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	C	17: 33,067,760	C23G	probably damaging	Het
Abcg4	G	A	9: 44,281,566	A161V	probably damaging	Het
Anapc2	T	C	2: 25,274,796	I64T	possibly damaging	Het
Arfgef1	T	C	1: 10,199,736	D396G	probably benign	Het
Axl	C	T	7: 25,785,915	V163M	probably damaging	Het
Blm	G	A	7: 80,505,873	P353S	possibly damaging	Het
Btaf1	T	C	19: 36,990,762	Y1116H	probably benign	Het
Ccdc18	T	A	5: 108,158,648		probably null	Het
Ccdc87	T	C	19: 4,840,401		probably null	Het
Cdhr1	T	C	14: 37,079,643	N781S	probably benign	Het
Ctr9	C	A	7: 111,042,857	H297Q	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnmt3l	T	C	10: 78,052,900		probably null	Het
Dock4	C	A	12: 40,817,746	N1440K	probably damaging	Het
Etnk1	T	A	6: 143,195,317		probably null	Het
Fam120a	A	T	13: 48,910,250		probably null	Het
Fanca	T	C	8: 123,284,046	D908G	probably benign	Het
Gm17535	T	A	9: 3,035,786	L218H	probably benign	Het
Gm3633	A	C	14: 42,639,204	N42K	possibly damaging	Het
Gm4781	C	A	10: 100,396,989		noncoding transcript	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Gpr139	A	G	7: 119,144,942	V140A	probably benign	Het
Ighv1-62-3	G	T	12: 115,461,394	T13K	probably benign	Het
Itgb2l	T	C	16: 96,425,005	T629A	possibly damaging	Het
Kcnb2	T	C	1: 15,709,500	S199P	probably damaging	Het
Kdm1b	G	A	13: 47,077,486	G663D	probably damaging	Het
Lama1	A	G	17: 67,745,893	D407G	possibly damaging	Het
Macf1	T	C	4: 123,511,220	K391R	probably damaging	Het
Magi3	A	T	3: 104,105,791	S127T	probably damaging	Het
Map2	A	T	1: 66,438,796	D1759V	probably damaging	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Myrfl	T	C	10: 116,822,711	D447G	probably damaging	Het
Ndufb7	A	G	8: 83,571,465		probably benign	Het
Nt5e	T	A	9: 88,363,581	N301K	probably benign	Het
Olfr944	T	A	9: 39,218,114	Y252*	probably null	Het
Olfr960	A	T	9: 39,623,560	T146S	possibly damaging	Het
Pcdh10	A	G	3: 45,381,861	N870S	probably damaging	Het
Pcdh18	A	G	3: 49,754,856	V670A	probably benign	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Ric3	G	C	7: 109,038,723	S274R	probably benign	Het
Rimbp3	A	G	16: 17,213,331	T1540A	probably damaging	Het
Rnf165	A	G	18: 77,462,912	S107P	probably damaging	Het
Rp1l1	A	T	14: 64,031,356	M1464L	probably benign	Het
Slc41a3	A	G	6: 90,626,417	Y140C	probably damaging	Het
Ssb	A	T	2: 69,866,237	E38D	possibly damaging	Het
Syt14	A	T	1: 193,026,984	I16N	probably damaging	Het
Tet3	T	C	6: 83,375,896	T973A	probably damaging	Het
Tial1	T	C	7: 128,443,968		probably benign	Het
Tnfrsf1a	A	G	6: 125,360,712	T89A	possibly damaging	Het
Trpv5	T	C	6: 41,675,945	Y98C	possibly damaging	Het
Ylpm1	T	A	12: 85,015,493	S265T	probably damaging	Het
Ylpm1	A	G	12: 85,042,239	D1006G	probably damaging	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
R1452:Cyp2c55	UTSW	19	39011090	missense	probably damaging	1.00
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
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'- AATTGGTACTTGCCCATGGG -3'
(R):5'- CCTCAGAGTTGTATCTTGTGGAC -3'

Sequencing Primer
(F):5'- CCATGGGATGGGTCTCAAG -3'
(R):5'- ATATTGAGTTCAGGGTCAGCCTAGAC -3'

Posted On

2016-06-21