Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Cyp2c55'

506084

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c55

Ensembl Gene

ENSMUSG00000025002

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 55

Synonyms

2010318C06Rik

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38995463-39031137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39007111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 169 (I169T)

Ref Sequence

ENSEMBL: ENSMUSP00000025966 (fasta)

Gene Model

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

AlphaFold

Q9D816

Predicted Effect

probably benign
Transcript: ENSMUST00000025966
AA Change: I169T

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025966
Gene: ENSMUSG00000025002
AA Change: I169T

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,602,659 (GRCm39)	V7E	possibly damaging	Het
Aars2	G	A	17: 45,825,535 (GRCm39)	G333S	probably damaging	Het
Aen	T	A	7: 78,555,592 (GRCm39)	I85N	probably damaging	Het
Ahnak	C	A	19: 8,985,389 (GRCm39)	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,568,487 (GRCm39)	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,151,284 (GRCm39)	W2R	probably damaging	Het
Caprin2	A	G	6: 148,779,390 (GRCm39)	I139T	probably benign	Het
Cdhr3	T	A	12: 33,103,474 (GRCm39)	N381I	probably damaging	Het
Cecr2	A	G	6: 120,735,011 (GRCm39)	Y721C	probably damaging	Het
Cfhr4	A	T	1: 139,680,749 (GRCm39)	C256*	probably null	Het
Cherp	G	T	8: 73,224,725 (GRCm39)	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,714 (GRCm39)		probably null	Het
Ctdp1	T	A	18: 80,502,512 (GRCm39)		probably null	Het
Cyp4a31	T	C	4: 115,432,117 (GRCm39)	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,717,627 (GRCm39)		probably benign	Het
Efcab8	T	C	2: 153,652,188 (GRCm39)	W466R	possibly damaging	Het
Ehd3	C	A	17: 74,112,408 (GRCm39)	N57K	probably benign	Het
Ern2	C	A	7: 121,772,495 (GRCm39)	K654N	probably damaging	Het
Fbh1	A	T	2: 11,753,257 (GRCm39)	F879L	probably benign	Het
Gde1	T	C	7: 118,291,004 (GRCm39)	D92G	probably null	Het
Heatr5b	A	G	17: 79,110,863 (GRCm39)	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,469,290 (GRCm39)	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,587,962 (GRCm39)		probably benign	Het
Itgb4	T	C	11: 115,888,963 (GRCm39)	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,435,620 (GRCm39)	I710N	probably damaging	Het
Kif1a	T	C	1: 92,947,705 (GRCm39)	K1578E	probably damaging	Het
Kif9	T	C	9: 110,346,902 (GRCm39)		probably null	Het
Kitl	T	C	10: 99,925,095 (GRCm39)	*57Q	probably null	Het
Lrat	C	A	3: 82,810,812 (GRCm39)	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,533,797 (GRCm39)	M1022K	probably benign	Het
Muc16	T	C	9: 18,566,895 (GRCm39)	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890 (GRCm39)	N171I	probably damaging	Het
Npas4	G	A	19: 5,036,403 (GRCm39)	T587I	probably damaging	Het
Oas3	A	G	5: 120,909,295 (GRCm39)	V217A	probably benign	Het
Or6c1b	A	G	10: 129,273,557 (GRCm39)	N292S	possibly damaging	Het
Osbp	C	A	19: 11,955,317 (GRCm39)	A323D	possibly damaging	Het
Panx2	G	A	15: 88,951,821 (GRCm39)	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Piezo2	T	C	18: 63,254,341 (GRCm39)	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,517,360 (GRCm39)	T476A	probably damaging	Het
Plekha4	T	C	7: 45,203,226 (GRCm39)		probably benign	Het
Ppfibp2	T	C	7: 107,280,969 (GRCm39)	S94P	probably damaging	Het
Pramel7	T	A	2: 87,320,007 (GRCm39)	I429L	probably benign	Het
Rif1	A	G	2: 51,975,065 (GRCm39)	K325E	probably damaging	Het
Ror2	T	C	13: 53,264,578 (GRCm39)	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,896,564 (GRCm39)	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,049,924 (GRCm39)	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,691,647 (GRCm39)	D630G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Trank1	T	C	9: 111,181,314 (GRCm39)		probably null	Het
Tspan10	T	A	11: 120,335,368 (GRCm39)	C159*	probably null	Het
Uba6	G	A	5: 86,312,624 (GRCm39)	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,601,659 (GRCm39)	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,305,983 (GRCm39)	N905S	probably benign	Het
Zfp831	T	C	2: 174,488,214 (GRCm39)	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,264,359 (GRCm39)	N452K	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
PIT4453001:Cyp2c55	UTSW	19	39,000,235 (GRCm39)	missense	probably damaging	1.00
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
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'- TGAAGACATGAATTGTTATGTGTTCT -3'
(R):5'- CTGTACACGATTCCTTGTGAAG -3'

Sequencing Primer
(F):5'- GCCATGTCTACAGAGAGAGTTCC -3'
(R):5'- GAGAATATCTTTGACTCACCTGC -3'

Posted On

2018-02-28