Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Cyp2c55'

358055

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c55

Ensembl Gene

ENSMUSG00000025002

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 55

Synonyms

2010318C06Rik

MMRRC Submission

041972-MU

Accession Numbers

Essential gene?

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

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38995463-39031137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39019815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 251 (H251P)

Ref Sequence

ENSEMBL: ENSMUSP00000025966 (fasta)

Gene Model

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

AlphaFold

Q9D816

Predicted Effect

probably damaging
Transcript: ENSMUST00000025966
AA Change: H251P

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

SMART Domains

Protein: ENSMUSP00000025966
Gene: ENSMUSG00000025002
AA Change: H251P

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Acss2	T	C	2: 155,403,063 (GRCm39)	F627L	probably damaging	Het
Akap8	A	G	17: 32,535,184 (GRCm39)	S277P	probably damaging	Het
Akap9	T	A	5: 4,051,418 (GRCm39)	M1395K	probably damaging	Het
Ank1	A	G	8: 23,612,893 (GRCm39)	D1468G	probably benign	Het
Apoe	A	G	7: 19,430,846 (GRCm39)	V121A	probably benign	Het
Aqp9	A	T	9: 71,070,331 (GRCm39)	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,639,529 (GRCm39)	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,667,134 (GRCm39)	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,523,980 (GRCm39)		probably benign	Het
Bltp2	T	A	11: 78,154,854 (GRCm39)	L122H	probably damaging	Het
Brsk1	A	G	7: 4,711,866 (GRCm39)	E572G	possibly damaging	Het
C6	T	C	15: 4,811,394 (GRCm39)	I414T	probably benign	Het
C8b	T	A	4: 104,644,083 (GRCm39)	M250K	probably benign	Het
Camk1g	T	A	1: 193,044,393 (GRCm39)	E7V	probably benign	Het
Clcc1	A	G	3: 108,580,236 (GRCm39)		probably null	Het
Col4a3	G	T	1: 82,694,018 (GRCm39)		probably null	Het
Cox5b	T	A	1: 36,732,310 (GRCm39)	W104R	probably damaging	Het
Cyp2c67	G	A	19: 39,632,188 (GRCm39)	T60I	probably benign	Het
Defb42	T	A	14: 63,285,824 (GRCm39)	V68E	probably benign	Het
Ercc4	T	A	16: 12,941,287 (GRCm39)	I225N	probably damaging	Het
Fam120b	G	T	17: 15,622,658 (GRCm39)	C212F	probably damaging	Het
Fgf10	T	C	13: 118,918,045 (GRCm39)	V111A	probably benign	Het
Fn1	G	T	1: 71,629,967 (GRCm39)	T2186K	probably damaging	Het
Fras1	T	C	5: 96,929,518 (GRCm39)	V3974A	probably benign	Het
Galnt4	T	C	10: 98,944,362 (GRCm39)	V29A	probably benign	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,407,475 (GRCm39)	L236Q	probably damaging	Het
Hivep3	C	A	4: 119,955,020 (GRCm39)	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,708,069 (GRCm39)	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,185,783 (GRCm39)	Y69*	probably null	Het
Itgb1	G	A	8: 129,443,703 (GRCm39)	A320T	probably damaging	Het
Kcna2	T	C	3: 107,012,733 (GRCm39)	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545 (GRCm39)		probably null	Het
Klhl1	G	A	14: 96,389,402 (GRCm39)	T584I	probably benign	Het
Ltbp1	A	G	17: 75,532,199 (GRCm39)	D91G	probably damaging	Het
Mdga2	T	C	12: 66,844,427 (GRCm39)	I190M	probably damaging	Het
Meis2	G	A	2: 115,830,686 (GRCm39)	R276C	probably damaging	Het
Mob4	C	T	1: 55,191,855 (GRCm39)	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,114 (GRCm39)	I48T	possibly damaging	Het
Mst1	T	C	9: 107,960,826 (GRCm39)	V481A	probably benign	Het
Mttp	A	T	3: 137,821,832 (GRCm39)	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Neb	G	T	2: 52,083,243 (GRCm39)	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,256,866 (GRCm39)	K161N	probably damaging	Het
Nod2	T	G	8: 89,390,902 (GRCm39)	F388C	possibly damaging	Het
Or3a1	G	T	11: 74,225,402 (GRCm39)	F218L	probably benign	Het
Or4a75	G	T	2: 89,447,814 (GRCm39)	H241N	possibly damaging	Het
Or4f58	A	G	2: 111,851,332 (GRCm39)	F289S	possibly damaging	Het
Or52e2	A	T	7: 102,804,332 (GRCm39)	N207K	probably benign	Het
Or7a38	T	A	10: 78,753,361 (GRCm39)	I229N	probably damaging	Het
Or7g25	G	A	9: 19,160,153 (GRCm39)	L181F	possibly damaging	Het
P2ry1	A	G	3: 60,911,898 (GRCm39)	S346G	probably benign	Het
Polr1f	T	A	12: 33,487,679 (GRCm39)		probably null	Het
Prkcd	A	G	14: 30,321,623 (GRCm39)	F524L	probably benign	Het
Qrfprl	T	C	6: 65,429,898 (GRCm39)	I198T	probably benign	Het
Ramp3	A	T	11: 6,624,843 (GRCm39)	M46L	probably benign	Het
Rint1	T	C	5: 24,014,791 (GRCm39)	Y278H	probably damaging	Het
Skint11	C	T	4: 114,051,874 (GRCm39)	T74I	probably benign	Het
Slc10a7	T	C	8: 79,433,579 (GRCm39)		probably null	Het
Slc45a2	T	A	15: 11,028,016 (GRCm39)	Y528*	probably null	Het
Slit1	A	G	19: 41,637,452 (GRCm39)	F329L	probably damaging	Het
Sltm	A	T	9: 70,498,892 (GRCm39)	M989L	possibly damaging	Het
Smad9	A	T	3: 54,701,874 (GRCm39)	T372S	possibly damaging	Het
Snrpc	T	A	17: 28,061,306 (GRCm39)	Y38*	probably null	Het
Spag17	A	G	3: 100,010,701 (GRCm39)	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,498,197 (GRCm39)	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,019,258 (GRCm39)		probably null	Het
Tgfb1i1	A	T	7: 127,848,571 (GRCm39)	M96L	probably damaging	Het
Tnc	T	A	4: 63,885,580 (GRCm39)	I1841F	probably damaging	Het
Ubap2	G	T	4: 41,211,771 (GRCm39)	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,632,580 (GRCm39)	N2592S	probably benign	Het
Xdh	G	A	17: 74,193,381 (GRCm39)	P1305L	probably benign	Het
Xrn1	G	A	9: 95,921,862 (GRCm39)	R1425K	probably benign	Het
Zfp418	G	A	7: 7,185,762 (GRCm39)	R575Q	possibly damaging	Het
Zfp608	T	A	18: 55,027,544 (GRCm39)	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,821,635 (GRCm39)	L150I	possibly damaging	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
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'- CATAGGCCTCCTGAGTATCTGG -3'
(R):5'- AAGTGCTTCTTGCCTGGAAAG -3'

Sequencing Primer
(F):5'- AGGCCTCCTGAGTATCTGGAATAC -3'
(R):5'- GACTGCTCTTCCAAAGATCTGGAG -3'

Posted On

2015-11-11