Mutagenetix > Incidental Mutation

Incidental Mutation 'R1779:Ptgis'

197310

Institutional Source

Beutler Lab

Gene Symbol

Ptgis

Ensembl Gene

ENSMUSG00000017969

Gene Name

prostaglandin I2 (prostacyclin) synthase

Synonyms

Cyp8a1, Pgis, Pgi2

MMRRC Submission

039810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1779 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

167191805-167240604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 167214858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 270 (S270P)

Ref Sequence

ENSEMBL: ENSMUSP00000085357 (fasta)

Gene Model

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

AlphaFold

O35074

Predicted Effect

probably benign
Transcript: ENSMUST00000018113
AA Change: S270P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000018113
Gene: ENSMUSG00000017969
AA Change: S270P

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
AA Change: S270P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969
AA Change: S270P

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

Meta Mutation Damage Score

0.1547

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (101/104)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,406,514 (GRCm38)	L476F	probably damaging	Het
1700061G19Rik	T	A	17: 56,885,169 (GRCm38)	Y577*	probably null	Het
4930432E11Rik	A	T	7: 29,579,166 (GRCm38)		noncoding transcript	Het
A930011G23Rik	A	T	5: 99,223,038 (GRCm38)		probably benign	Het
Abcd3	A	G	3: 121,781,963 (GRCm38)	Y217H	probably damaging	Het
Abraxas1	A	T	5: 100,817,956 (GRCm38)		probably benign	Het
Acsbg1	T	C	9: 54,616,062 (GRCm38)	Y427C	probably damaging	Het
Adam10	T	A	9: 70,776,369 (GRCm38)		probably benign	Het
Adam24	G	A	8: 40,680,965 (GRCm38)	V491I	possibly damaging	Het
Adamts2	T	G	11: 50,756,697 (GRCm38)	V299G	probably damaging	Het
Adh7	A	G	3: 138,223,991 (GRCm38)	T143A	probably damaging	Het
Ahcyl1	A	G	3: 107,674,103 (GRCm38)	S81P	probably benign	Het
Arhgap20	C	A	9: 51,849,915 (GRCm38)	T986K	probably benign	Het
Atp13a5	A	T	16: 29,314,660 (GRCm38)	I391N	possibly damaging	Het
Atp6v0a1	C	A	11: 101,026,685 (GRCm38)	A143E	probably benign	Het
Calcrl	A	G	2: 84,351,285 (GRCm38)	I173T	probably damaging	Het
Casz1	A	G	4: 148,932,937 (GRCm38)	T228A	probably benign	Het
Cckar	A	G	5: 53,699,979 (GRCm38)	I292T	probably damaging	Het
Cfhr2	T	A	1: 139,858,645 (GRCm38)		probably null	Het
Chkb	T	C	15: 89,429,057 (GRCm38)	I109V	possibly damaging	Het
Clec2i	T	C	6: 128,888,106 (GRCm38)		probably null	Het
Clec4a4	T	A	6: 123,023,975 (GRCm38)	W216R	probably damaging	Het
Cntnap1	A	C	11: 101,186,511 (GRCm38)	I1000L	probably damaging	Het
Cp	C	A	3: 19,957,385 (GRCm38)	D34E	possibly damaging	Het
Cse1l	T	C	2: 166,940,124 (GRCm38)		probably null	Het
Dennd3	T	C	15: 73,522,508 (GRCm38)		probably null	Het
Dnah7a	A	G	1: 53,577,223 (GRCm38)	V1193A	probably benign	Het
Eaf2	A	G	16: 36,810,470 (GRCm38)		probably null	Het
Ephb2	T	C	4: 136,693,825 (GRCm38)	T405A	possibly damaging	Het
Fam117a	G	A	11: 95,378,953 (GRCm38)	V348M	probably damaging	Het
Fh1	T	C	1: 175,601,424 (GRCm38)	*167W	probably null	Het
Fmo9	T	A	1: 166,663,299 (GRCm38)	I486F	probably benign	Het
Gabbr1	T	A	17: 37,054,879 (GRCm38)	I150N	probably damaging	Het
Gfpt1	T	C	6: 87,077,197 (GRCm38)	V478A	possibly damaging	Het
Gm11639	T	A	11: 104,720,939 (GRCm38)	S536T	probably benign	Het
Gm2663	A	T	6: 40,997,960 (GRCm38)	V59E	probably damaging	Het
Gm4868	T	A	5: 125,848,112 (GRCm38)		noncoding transcript	Het
Heatr4	T	A	12: 83,980,160 (GRCm38)	T108S	probably benign	Het
Hells	G	T	19: 38,946,842 (GRCm38)	A319S	probably benign	Het
Helz2	A	G	2: 181,234,987 (GRCm38)	V1238A	probably benign	Het
Helz2	T	A	2: 181,238,459 (GRCm38)	Q488L	possibly damaging	Het
Hkdc1	A	G	10: 62,391,383 (GRCm38)	F765S	probably damaging	Het
Hspg2	T	A	4: 137,518,509 (GRCm38)	W938R	probably damaging	Het
Itpr2	G	A	6: 146,158,901 (GRCm38)	R2473*	probably null	Het
Kctd1	C	T	18: 15,061,782 (GRCm38)	V595I	probably benign	Het
Krt7	A	G	15: 101,423,409 (GRCm38)	Y369C	probably damaging	Het
Krt72	T	C	15: 101,780,929 (GRCm38)	T323A	probably benign	Het
Krt76	A	G	15: 101,892,687 (GRCm38)	L58P	unknown	Het
Liph	C	A	16: 21,968,050 (GRCm38)	R272L	probably benign	Het
Lrrc9	A	T	12: 72,455,998 (GRCm38)	K248*	probably null	Het
Mei4	T	A	9: 81,927,142 (GRCm38)	S93T	probably damaging	Het
Mgll	T	A	6: 88,813,948 (GRCm38)	Y183*	probably null	Het
Myo5b	A	G	18: 74,742,147 (GRCm38)	M1541V	probably benign	Het
Napg	A	G	18: 62,982,691 (GRCm38)	E66G	probably benign	Het
Npr3	T	C	15: 11,851,486 (GRCm38)	D406G	probably damaging	Het
Nr2c2	A	G	6: 92,159,243 (GRCm38)	T355A	possibly damaging	Het
Olfr1243	A	T	2: 89,527,645 (GRCm38)	I255K	probably benign	Het
Olfr1461	T	C	19: 13,165,040 (GRCm38)	Y9H	probably benign	Het
Olfr26	A	G	9: 38,855,550 (GRCm38)	M163V	possibly damaging	Het
Olfr618	A	T	7: 103,597,900 (GRCm38)	I195F	probably damaging	Het
Olfr624	A	G	7: 103,670,638 (GRCm38)	I131T	probably benign	Het
Olfr631	G	T	7: 103,929,461 (GRCm38)	V213L	probably benign	Het
Olfr71	G	A	4: 43,706,041 (GRCm38)	H176Y	probably damaging	Het
Orai2	T	C	5: 136,150,939 (GRCm38)	E80G	probably damaging	Het
Pcdhb14	T	A	18: 37,449,482 (GRCm38)	V547E	probably damaging	Het
Pcdhb15	T	C	18: 37,476,031 (GRCm38)	I772T	possibly damaging	Het
Pcnt	T	C	10: 76,408,796 (GRCm38)	Q1150R	probably damaging	Het
Pdcd6	A	G	13: 74,305,581 (GRCm38)	I146T	probably damaging	Het
Phldb2	T	A	16: 45,801,625 (GRCm38)	D664V	probably damaging	Het
Pik3ap1	A	T	19: 41,332,234 (GRCm38)	V182E	probably damaging	Het
Pip4k2a	A	G	2: 18,847,622 (GRCm38)	V283A	probably benign	Het
Pkdrej	A	G	15: 85,821,171 (GRCm38)	V188A	possibly damaging	Het
Pnpla6	T	C	8: 3,541,404 (GRCm38)	W1151R	probably damaging	Het
Ppp1r14c	A	G	10: 3,366,890 (GRCm38)	Y75C	probably damaging	Het
Prl2b1	C	T	13: 27,383,469 (GRCm38)	D224N	probably benign	Het
Rgs11	C	A	17: 26,210,666 (GRCm38)	A446D	probably damaging	Het
Rims2	A	G	15: 39,681,702 (GRCm38)	T1531A	probably damaging	Het
Sbno1	A	T	5: 124,388,517 (GRCm38)		probably benign	Het
Scarb2	C	G	5: 92,448,557 (GRCm38)	M409I	probably benign	Het
Scube3	C	T	17: 28,168,379 (GRCm38)		probably benign	Het
Slc44a4	T	C	17: 34,921,925 (GRCm38)	I180T	probably damaging	Het
Slc9a2	T	C	1: 40,742,643 (GRCm38)	M344T	probably damaging	Het
Smc3	A	T	19: 53,639,369 (GRCm38)	T860S	probably benign	Het
Snrpa	A	G	7: 27,191,749 (GRCm38)	I99T	probably benign	Het
Sorcs1	A	G	19: 50,175,043 (GRCm38)		probably benign	Het
Sorl1	C	T	9: 41,991,482 (GRCm38)		probably null	Het
Suds3	T	C	5: 117,105,244 (GRCm38)	K143R	probably benign	Het
Supt20	A	T	3: 54,714,743 (GRCm38)	M424L	probably benign	Het
Tgtp2	T	C	11: 49,058,924 (GRCm38)	M274V	probably benign	Het
Tmem158	T	A	9: 123,259,909 (GRCm38)	M213L	probably benign	Het
Tnks	C	A	8: 34,857,518 (GRCm38)	R639L	probably benign	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Trmt10c	A	C	16: 56,034,575 (GRCm38)	N232K	possibly damaging	Het
Trpm6	C	T	19: 18,856,217 (GRCm38)	R1587W	probably damaging	Het
Trrap	G	A	5: 144,828,590 (GRCm38)	V2539I	probably benign	Het
Tsg101	A	G	7: 46,907,087 (GRCm38)	S115P	probably benign	Het
Ttll13	G	T	7: 80,260,508 (GRCm38)	V800L	probably benign	Het
Vmn1r57	A	G	7: 5,220,577 (GRCm38)	T34A	possibly damaging	Het
Vmn2r118	T	A	17: 55,611,530 (GRCm38)	T121S	probably benign	Het
Wdr35	A	G	12: 8,985,772 (GRCm38)	I238M	possibly damaging	Het
Wisp2	G	A	2: 163,828,986 (GRCm38)	V138M	probably damaging	Het
Zfp81	T	A	17: 33,335,106 (GRCm38)	T245S	probably benign	Het
Zfyve26	G	T	12: 79,278,463 (GRCm38)	P824Q	probably damaging	Het

Other mutations in Ptgis

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01562:Ptgis	APN	2	167,206,830 (GRCm38)	missense	probably damaging	1.00
IGL01859:Ptgis	APN	2	167,214,806 (GRCm38)	critical splice donor site	probably null
IGL01965:Ptgis	APN	2	167,208,253 (GRCm38)	missense	probably benign	0.00
IGL02102:Ptgis	APN	2	167,225,447 (GRCm38)	missense	probably damaging	0.99
IGL02296:Ptgis	APN	2	167,206,737 (GRCm38)	missense	probably damaging	1.00
IGL02434:Ptgis	APN	2	167,240,342 (GRCm38)	critical splice donor site	probably null
PIT4142001:Ptgis	UTSW	2	167,206,830 (GRCm38)	missense	probably damaging	1.00
R0332:Ptgis	UTSW	2	167,214,833 (GRCm38)	missense	probably damaging	0.99
R0614:Ptgis	UTSW	2	167,206,882 (GRCm38)	missense	probably damaging	1.00
R1733:Ptgis	UTSW	2	167,191,968 (GRCm38)	unclassified	probably benign
R1756:Ptgis	UTSW	2	167,206,803 (GRCm38)	missense	probably damaging	1.00
R2004:Ptgis	UTSW	2	167,214,849 (GRCm38)	missense	possibly damaging	0.94
R2019:Ptgis	UTSW	2	167,214,810 (GRCm38)	nonsense	probably null
R2019:Ptgis	UTSW	2	167,208,279 (GRCm38)	missense	probably damaging	1.00
R2512:Ptgis	UTSW	2	167,207,276 (GRCm38)	missense	probably damaging	0.99
R2679:Ptgis	UTSW	2	167,208,193 (GRCm38)	missense	probably benign	0.38
R4962:Ptgis	UTSW	2	167,225,274 (GRCm38)	critical splice donor site	probably null
R5174:Ptgis	UTSW	2	167,203,470 (GRCm38)	critical splice acceptor site	probably null
R5471:Ptgis	UTSW	2	167,224,119 (GRCm38)	missense	probably benign	0.03
R5717:Ptgis	UTSW	2	167,208,364 (GRCm38)	splice site	probably benign
R7268:Ptgis	UTSW	2	167,206,756 (GRCm38)	missense	probably benign	0.10
R7513:Ptgis	UTSW	2	167,225,283 (GRCm38)	missense	probably benign	0.00
R7515:Ptgis	UTSW	2	167,206,838 (GRCm38)	missense	possibly damaging	0.91
R7615:Ptgis	UTSW	2	167,223,988 (GRCm38)	missense	probably damaging	1.00
R7736:Ptgis	UTSW	2	167,191,971 (GRCm38)	missense	unknown
R7891:Ptgis	UTSW	2	167,227,514 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTTCCAAAGCCACTGGACGAG -3'
(R):5'- CTAGGCAACTCTTACAGGGCATCAC -3'

Sequencing Primer
(F):5'- GCCACTGGACGAGAGAAAC -3'
(R):5'- AGGCTGTCCTATCAGTGACAC -3'

Posted On

2014-05-23