Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Cyp2c55'

555367

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c55

Ensembl Gene

ENSMUSG00000025002

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 55

Synonyms

2010318C06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39007019-39042693 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39011791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 145 (I145F)

Ref Sequence

ENSEMBL: ENSMUSP00000025966 (fasta)

Gene Model

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

AlphaFold

Q9D816

Predicted Effect

probably damaging
Transcript: ENSMUST00000025966
AA Change: I145F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025966
Gene: ENSMUSG00000025002
AA Change: I145F

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

0.6467

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	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
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
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
R8865:Cyp2c55	UTSW	19	39031434	missense	probably benign	0.21
R8904:Cyp2c55	UTSW	19	39034372	missense
R8960:Cyp2c55	UTSW	19	39007103	missense	probably null	1.00
R9012:Cyp2c55	UTSW	19	39042116	missense	probably benign	0.00
R9037:Cyp2c55	UTSW	19	39042093	missense	probably damaging	1.00
R9047:Cyp2c55	UTSW	19	39031346	missense	possibly damaging	0.55
R9164:Cyp2c55	UTSW	19	39007127	nonsense	probably null
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'- GGAAAATCTCCTTAGGCAGTGTC -3'
(R):5'- AAGCAAAGCTCTGTCCTTGG -3'

Sequencing Primer
(F):5'- ACAGGTTCAGAGGTTCAGTCC -3'
(R):5'- AAAGCTCTGTCCTTGGGCACTAG -3'

Posted On

2019-06-07