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: 0.085) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38995463-39031137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39000235 bp (GRCm39)

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: 121,898,965 (GRCm39)	I649S	probably damaging	Het
Abcc2	T	A	19: 43,792,221 (GRCm39)	L334*	probably null	Het
Adam28	A	T	14: 68,872,325 (GRCm39)	S306T	probably benign	Het
Adam34	T	A	8: 44,104,349 (GRCm39)	D432V	probably damaging	Het
Adcy7	A	G	8: 89,050,264 (GRCm39)	Y723C	probably benign	Het
Adgre5	T	A	8: 84,451,089 (GRCm39)	M713L	probably benign	Het
Aebp2	C	A	6: 140,583,412 (GRCm39)	C295*	probably null	Het
Amn1	G	T	6: 149,072,357 (GRCm39)	Q127K	probably benign	Het
Atcay	C	T	10: 81,046,383 (GRCm39)	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,488,495 (GRCm39)	E847G	probably benign	Het
Atp2b1	A	G	10: 98,852,840 (GRCm39)	E1039G	probably benign	Het
Caskin1	A	G	17: 24,718,266 (GRCm39)	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,105 (GRCm39)	T94A	probably damaging	Het
Ciart	T	A	3: 95,787,788 (GRCm39)	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079 (GRCm39)	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,145,097 (GRCm39)	S298R	possibly damaging	Het
Cul7	T	A	17: 46,962,746 (GRCm39)	C126S	probably damaging	Het
Cypt4	G	C	9: 24,536,770 (GRCm39)	A87P	probably damaging	Het
Disp2	G	A	2: 118,618,125 (GRCm39)	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,638,979 (GRCm39)		probably null	Het
Dock1	A	G	7: 134,754,029 (GRCm39)	K1602R	probably benign	Het
Ears2	T	C	7: 121,647,562 (GRCm39)	I241V	probably benign	Het
Eml6	T	C	11: 29,752,489 (GRCm39)	T975A	probably damaging	Het
Ephb2	T	C	4: 136,388,121 (GRCm39)	T660A	probably benign	Het
Fbxw7	G	A	3: 84,872,621 (GRCm39)	V268M		Het
Gart	A	G	16: 91,433,426 (GRCm39)	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,681,520 (GRCm39)	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031 (GRCm39)	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032 (GRCm39)	Q975H	probably benign	Het
Grik5	C	A	7: 24,710,119 (GRCm39)	R872L	probably damaging	Het
Hmox2	T	A	16: 4,582,921 (GRCm39)	I218N	probably damaging	Het
Hook1	A	T	4: 95,903,089 (GRCm39)	D526V	probably damaging	Het
Ifna4	A	T	4: 88,760,191 (GRCm39)	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,270,492 (GRCm39)	N213Y	unknown	Het
Itih4	G	A	14: 30,623,127 (GRCm39)	V900I	probably benign	Het
Itpr2	A	T	6: 146,274,671 (GRCm39)	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,469,941 (GRCm39)	V147A	probably benign	Het
Klra9	T	A	6: 130,168,284 (GRCm39)		probably benign	Het
Lamp3	G	T	16: 19,492,210 (GRCm39)	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,807,822 (GRCm39)	E1188K	probably damaging	Het
Med1	T	A	11: 98,049,243 (GRCm39)	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,205,447 (GRCm39)	T242A	probably damaging	Het
Nemp1	T	A	10: 127,532,123 (GRCm39)	F392Y	probably benign	Het
Obscn	C	A	11: 58,951,802 (GRCm39)	G3984W	probably damaging	Het
Obscn	T	A	11: 58,960,660 (GRCm39)	H3217L	possibly damaging	Het
Or10ak7	A	G	4: 118,791,823 (GRCm39)	M74T	probably benign	Het
Or13j1	A	G	4: 43,706,464 (GRCm39)	Y35H	probably damaging	Het
Or2d3b	C	T	7: 106,514,136 (GRCm39)	H244Y	probably damaging	Het
Or2d3c	T	C	7: 106,526,049 (GRCm39)	I206V	probably benign	Het
Or5l14	C	T	2: 87,792,802 (GRCm39)	V145M	possibly damaging	Het
P4ha1	G	T	10: 59,186,294 (GRCm39)	A258S	probably benign	Het
Parn	T	C	16: 13,425,145 (GRCm39)	I423V	probably benign	Het
Pcdh20	C	A	14: 88,704,744 (GRCm39)	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,722,784 (GRCm39)		probably null	Het
Pcsk1	A	T	13: 75,260,769 (GRCm39)	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,748,761 (GRCm39)	S1803R	probably benign	Het
Pkd1l3	C	A	8: 110,387,433 (GRCm39)	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,913,469 (GRCm39)	Q1119K		Het
Prr30	T	A	14: 101,436,371 (GRCm39)	T64S	probably benign	Het
Rec114	T	C	9: 58,567,653 (GRCm39)	N111S	probably benign	Het
Reck	G	A	4: 43,895,850 (GRCm39)	V79I	probably benign	Het
Rexo1	A	G	10: 80,386,231 (GRCm39)	F276L	probably damaging	Het
Rgs6	T	C	12: 83,138,553 (GRCm39)	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,197,793 (GRCm39)	R2149G	probably benign	Het
Slc20a2	C	A	8: 23,025,398 (GRCm39)	F33L	probably damaging	Het
Spopl	T	A	2: 23,435,461 (GRCm39)	T25S	probably damaging	Het
Srcap	A	T	7: 127,148,492 (GRCm39)	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,881,291 (GRCm39)		probably null	Het
St8sia1	C	T	6: 142,774,978 (GRCm39)	W200*	probably null	Het
Tas2r106	A	T	6: 131,655,465 (GRCm39)	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,570,857 (GRCm39)	L205Q	probably damaging	Het
Tchh	C	A	3: 93,353,187 (GRCm39)	R876S	unknown	Het
Thap12	G	T	7: 98,364,245 (GRCm39)	A138S	probably benign	Het
Tjp1	C	T	7: 64,993,362 (GRCm39)		probably null	Het
Traf4	G	A	11: 78,052,360 (GRCm39)	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 72,903,447 (GRCm39)		probably null	Het
Usp20	G	A	2: 30,907,498 (GRCm39)	V677M	possibly damaging	Het
Usp50	C	A	2: 126,625,236 (GRCm39)		probably benign	Het
Vmn1r21	T	C	6: 57,821,307 (GRCm39)	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,363,669 (GRCm39)	H408L	probably benign	Het
Zfp266	T	C	9: 20,417,299 (GRCm39)	T30A	probably benign	Het
Zfp536	T	C	7: 37,179,182 (GRCm39)	H1141R	probably benign	Het

Other mutations in Cyp2c55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Cyp2c55	APN	19	39,000,190 (GRCm39)	missense	probably benign	0.41
IGL00537:Cyp2c55	APN	19	39,000,150 (GRCm39)	missense	possibly damaging	0.93
IGL00959:Cyp2c55	APN	19	39,026,587 (GRCm39)	missense	probably benign	0.00
IGL01140:Cyp2c55	APN	19	39,007,093 (GRCm39)	missense	probably benign
IGL01792:Cyp2c55	APN	19	39,030,631 (GRCm39)	missense	probably benign
R0472:Cyp2c55	UTSW	19	39,019,823 (GRCm39)	missense	probably benign	0.01
R1452:Cyp2c55	UTSW	19	38,999,534 (GRCm39)	missense	probably damaging	1.00
R1468:Cyp2c55	UTSW	19	38,999,525 (GRCm39)	missense	probably damaging	0.96
R1468:Cyp2c55	UTSW	19	38,999,525 (GRCm39)	missense	probably damaging	0.96
R1925:Cyp2c55	UTSW	19	39,022,821 (GRCm39)	missense	probably benign	0.06
R2154:Cyp2c55	UTSW	19	39,022,819 (GRCm39)	missense	probably damaging	1.00
R3814:Cyp2c55	UTSW	19	38,995,509 (GRCm39)	missense	probably damaging	1.00
R4021:Cyp2c55	UTSW	19	39,023,878 (GRCm39)	splice site	probably null
R4022:Cyp2c55	UTSW	19	39,023,878 (GRCm39)	splice site	probably null
R4293:Cyp2c55	UTSW	19	39,000,235 (GRCm39)	missense	probably damaging	1.00
R4294:Cyp2c55	UTSW	19	39,000,235 (GRCm39)	missense	probably damaging	1.00
R4604:Cyp2c55	UTSW	19	39,019,830 (GRCm39)	missense	possibly damaging	0.82
R4740:Cyp2c55	UTSW	19	39,007,173 (GRCm39)	missense	probably benign
R4756:Cyp2c55	UTSW	19	39,019,815 (GRCm39)	missense	probably damaging	1.00
R4879:Cyp2c55	UTSW	19	39,030,522 (GRCm39)	frame shift	probably null
R5039:Cyp2c55	UTSW	19	39,026,587 (GRCm39)	missense	probably benign	0.00
R5672:Cyp2c55	UTSW	19	39,023,990 (GRCm39)	missense	probably benign	0.02
R5834:Cyp2c55	UTSW	19	39,030,511 (GRCm39)	missense	probably benign	0.00
R6198:Cyp2c55	UTSW	19	38,995,565 (GRCm39)	nonsense	probably null
R6255:Cyp2c55	UTSW	19	39,007,111 (GRCm39)	missense	probably benign	0.25
R6431:Cyp2c55	UTSW	19	39,019,853 (GRCm39)	missense	probably damaging	0.99
R6565:Cyp2c55	UTSW	19	39,030,566 (GRCm39)	missense	probably benign	0.09
R7934:Cyp2c55	UTSW	19	39,030,535 (GRCm39)	missense	probably damaging	1.00
R8477:Cyp2c55	UTSW	19	38,999,485 (GRCm39)	missense	probably damaging	0.97
R8865:Cyp2c55	UTSW	19	39,019,878 (GRCm39)	missense	probably benign	0.21
R8904:Cyp2c55	UTSW	19	39,022,816 (GRCm39)	missense
R8960:Cyp2c55	UTSW	19	38,995,547 (GRCm39)	missense	probably null	1.00
R9012:Cyp2c55	UTSW	19	39,030,560 (GRCm39)	missense	probably benign	0.00
R9037:Cyp2c55	UTSW	19	39,030,537 (GRCm39)	missense	probably damaging	1.00
R9047:Cyp2c55	UTSW	19	39,019,790 (GRCm39)	missense	possibly damaging	0.55
R9164:Cyp2c55	UTSW	19	38,995,571 (GRCm39)	nonsense	probably null
X0062:Cyp2c55	UTSW	19	39,007,133 (GRCm39)	missense	probably damaging	0.98
Z1176:Cyp2c55	UTSW	19	39,023,957 (GRCm39)	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