Mutagenetix > Incidental Mutation

Incidental Mutation 'R5174:Ptgis'

470565

Institutional Source

Beutler Lab

Gene Symbol

Ptgis

Ensembl Gene

ENSMUSG00000017969

Gene Name

prostaglandin I2 (prostacyclin) synthase

Synonyms

Cyp8a1, Pgi2, Pgis

MMRRC Submission

042754-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5174 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

167033725-167082524 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 167045390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018113] [ENSMUST00000088041]

AlphaFold

O35074

Predicted Effect

probably null
Transcript: ENSMUST00000018113

SMART Domains

Protein: ENSMUSP00000018113
Gene: ENSMUSG00000017969

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:p450	31	495	8.6e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088041

SMART Domains

Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:p450	31	496	1.9e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143645

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (69/70)

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. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased blood urea nitrogen and creatinine levels, thickening of the aorta with age, mildly increased blood pressure, and kidney abnormalities including cysts, fibrosis, necrosis, and renal vascular congestion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 69,728,209 (GRCm39)	S632P	probably damaging	Het
Arhgef16	G	A	4: 154,366,504 (GRCm39)	R451W	probably damaging	Het
Asxl3	A	T	18: 22,656,172 (GRCm39)	D1394V	probably benign	Het
Atp2a3	T	A	11: 72,871,041 (GRCm39)	I545N	probably damaging	Het
Cadps2	T	A	6: 23,287,742 (GRCm39)	Y1181F	probably damaging	Het
Camkmt	C	A	17: 85,759,665 (GRCm39)	F268L	probably benign	Het
Casp14	C	T	10: 78,551,225 (GRCm39)	G20D	possibly damaging	Het
Celf1	T	C	2: 90,831,353 (GRCm39)	C61R	probably damaging	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Cers3	A	T	7: 66,434,616 (GRCm39)	K203M	probably damaging	Het
Clip4	T	C	17: 72,117,957 (GRCm39)	F334S	probably damaging	Het
Cyp2b13	T	A	7: 25,788,118 (GRCm39)	D415E	possibly damaging	Het
Decr2	A	T	17: 26,306,443 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,352,768 (GRCm39)		probably null	Het
Dnah7b	G	A	1: 46,282,509 (GRCm39)	A2881T	possibly damaging	Het
Dnaja3	A	G	16: 4,502,161 (GRCm39)	H55R	probably benign	Het
Dnajc11	T	C	4: 152,064,441 (GRCm39)	F531L	probably damaging	Het
Efcab6	A	G	15: 83,938,687 (GRCm39)	F10L	probably benign	Het
Epm2aip1	T	C	9: 111,102,455 (GRCm39)	F476S	probably damaging	Het
Fat3	T	C	9: 15,910,866 (GRCm39)	N1712S	probably damaging	Het
Flnc	T	C	6: 29,448,893 (GRCm39)	V1343A	possibly damaging	Het
Fsip2	C	T	2: 82,811,085 (GRCm39)	P2468L	probably benign	Het
Gm5798	A	G	14: 41,070,620 (GRCm39)	H10R	possibly damaging	Het
Gm7168	A	G	17: 14,168,717 (GRCm39)	Y28C	probably damaging	Het
Gtpbp6	G	A	5: 110,255,983 (GRCm39)	R19C	possibly damaging	Het
Gucy2e	A	G	11: 69,127,392 (GRCm39)	F27S	probably benign	Het
Inhca	C	T	9: 103,159,755 (GRCm39)		probably null	Het
Krba1	A	G	6: 48,389,229 (GRCm39)	E548G	probably damaging	Het
Ltbr	A	G	6: 125,286,500 (GRCm39)	S229P	probably benign	Het
Mgat5b	A	T	11: 116,868,541 (GRCm39)	Y488F	probably benign	Het
Mia3	T	A	1: 183,112,348 (GRCm39)	K475*	probably null	Het
Mrpl53	C	T	6: 83,086,638 (GRCm39)	T114M	possibly damaging	Het
Mrps35	T	C	6: 146,961,709 (GRCm39)	Y195H	possibly damaging	Het
Muc4	A	T	16: 32,570,556 (GRCm39)	I539F	possibly damaging	Het
Nedd1	T	A	10: 92,547,074 (GRCm39)	T150S	possibly damaging	Het
Nox4	T	G	7: 86,972,974 (GRCm39)	I327S	probably benign	Het
Nrk	C	G	X: 137,887,528 (GRCm39)	A1018G	probably benign	Het
Or4c102	T	A	2: 88,422,992 (GRCm39)	N281K	probably damaging	Het
Or4d5	T	C	9: 40,012,043 (GRCm39)	T248A	possibly damaging	Het
Or52ae7	T	A	7: 103,119,610 (GRCm39)	F121L	probably benign	Het
Or5w19	T	A	2: 87,698,755 (GRCm39)	V140E	possibly damaging	Het
Pdzd2	G	A	15: 12,372,600 (GRCm39)	P2512S	probably benign	Het
Rnf170	T	A	8: 26,619,196 (GRCm39)	M140K	probably benign	Het
Scaf4	A	T	16: 90,044,062 (GRCm39)	I637K	unknown	Het
Sdccag8	A	T	1: 176,672,916 (GRCm39)	T270S	probably damaging	Het
Sec24d	T	C	3: 123,158,575 (GRCm39)	C1022R	probably damaging	Het
Sec63	T	C	10: 42,705,077 (GRCm39)		probably benign	Het
Serpinb3d	C	G	1: 107,006,228 (GRCm39)	E287Q	possibly damaging	Het
Silc1	A	T	12: 27,192,027 (GRCm39)		noncoding transcript	Het
Smarcd2	A	G	11: 106,157,871 (GRCm39)		probably benign	Het
Sox15	A	G	11: 69,546,545 (GRCm39)	Y116C	probably damaging	Het
Spag16	T	C	1: 70,532,955 (GRCm39)	S545P	probably damaging	Het
Ssc5d	C	A	7: 4,930,970 (GRCm39)	T184N	possibly damaging	Het
St6galnac2	A	T	11: 116,572,773 (GRCm39)	F228I	probably damaging	Het
Syne1	T	C	10: 4,991,490 (GRCm39)	N8408S	probably damaging	Het
Trank1	A	C	9: 111,194,627 (GRCm39)	T884P	probably benign	Het
Ubr3	T	A	2: 69,839,506 (GRCm39)	L1540H	probably damaging	Het
Ugt2b37	C	A	5: 87,399,739 (GRCm39)	M256I	probably benign	Het
Vmn2r69	G	A	7: 85,064,739 (GRCm39)	T49I	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,048 (GRCm39)	I839L	probably benign	Het
Zcrb1	A	G	15: 93,285,456 (GRCm39)		probably null	Het
Zfp319	A	T	8: 96,054,797 (GRCm39)		probably null	Het
Zfp592	T	C	7: 80,688,073 (GRCm39)	S1000P	probably damaging	Het
Zfp938	T	C	10: 82,061,838 (GRCm39)	N261D	possibly damaging	Het
Zfp957	A	G	14: 79,450,828 (GRCm39)	S324P	unknown	Het
Zswim6	G	T	13: 107,863,216 (GRCm39)		noncoding transcript	Het

Other mutations in Ptgis

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01562:Ptgis	APN	2	167,048,750 (GRCm39)	missense	probably damaging	1.00
IGL01859:Ptgis	APN	2	167,056,726 (GRCm39)	critical splice donor site	probably null
IGL01965:Ptgis	APN	2	167,050,173 (GRCm39)	missense	probably benign	0.00
IGL02102:Ptgis	APN	2	167,067,367 (GRCm39)	missense	probably damaging	0.99
IGL02296:Ptgis	APN	2	167,048,657 (GRCm39)	missense	probably damaging	1.00
IGL02434:Ptgis	APN	2	167,082,262 (GRCm39)	critical splice donor site	probably null
PIT4142001:Ptgis	UTSW	2	167,048,750 (GRCm39)	missense	probably damaging	1.00
R0332:Ptgis	UTSW	2	167,056,753 (GRCm39)	missense	probably damaging	0.99
R0614:Ptgis	UTSW	2	167,048,802 (GRCm39)	missense	probably damaging	1.00
R1733:Ptgis	UTSW	2	167,033,888 (GRCm39)	unclassified	probably benign
R1756:Ptgis	UTSW	2	167,048,723 (GRCm39)	missense	probably damaging	1.00
R1779:Ptgis	UTSW	2	167,056,778 (GRCm39)	missense	probably benign	0.01
R2004:Ptgis	UTSW	2	167,056,769 (GRCm39)	missense	possibly damaging	0.94
R2019:Ptgis	UTSW	2	167,056,730 (GRCm39)	nonsense	probably null
R2019:Ptgis	UTSW	2	167,050,199 (GRCm39)	missense	probably damaging	1.00
R2512:Ptgis	UTSW	2	167,049,196 (GRCm39)	missense	probably damaging	0.99
R2679:Ptgis	UTSW	2	167,050,113 (GRCm39)	missense	probably benign	0.38
R4962:Ptgis	UTSW	2	167,067,194 (GRCm39)	critical splice donor site	probably null
R5471:Ptgis	UTSW	2	167,066,039 (GRCm39)	missense	probably benign	0.03
R5717:Ptgis	UTSW	2	167,050,284 (GRCm39)	splice site	probably benign
R7268:Ptgis	UTSW	2	167,048,676 (GRCm39)	missense	probably benign	0.10
R7513:Ptgis	UTSW	2	167,067,203 (GRCm39)	missense	probably benign	0.00
R7515:Ptgis	UTSW	2	167,048,758 (GRCm39)	missense	possibly damaging	0.91
R7615:Ptgis	UTSW	2	167,065,908 (GRCm39)	missense	probably damaging	1.00
R7736:Ptgis	UTSW	2	167,033,891 (GRCm39)	missense	unknown
R7891:Ptgis	UTSW	2	167,069,434 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTGAGTCTGCTCCATAGG -3'
(R):5'- TAGAGACACATGGTTGGGGC -3'

Sequencing Primer
(F):5'- TGAGTCTGCTCCATAGGTCACAG -3'
(R):5'- CAGATGATGCTGTAGGCGG -3'

Posted On

2017-03-14