Mutagenetix > Incidental Mutation

Incidental Mutation 'R7515:Ptgis'

582377

Institutional Source

Beutler Lab

Gene Symbol

Ptgis

Ensembl Gene

ENSMUSG00000017969

Gene Name

prostaglandin I2 (prostacyclin) synthase

Synonyms

Cyp8a1, Pgi2, Pgis

MMRRC Submission

045588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

167033725-167082524 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 167048758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 419 (K419N)

Ref Sequence

ENSEMBL: ENSMUSP00000085357 (fasta)

Gene Model

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

AlphaFold

O35074

Predicted Effect

probably damaging
Transcript: ENSMUST00000018113
AA Change: K419N

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018113
Gene: ENSMUSG00000017969
AA Change: K419N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088041
AA Change: K419N

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969
AA Change: K419N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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. 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	T	11: 5,578,905 (GRCm39)	E56D	possibly damaging	Het
Ankrd44	T	C	1: 54,805,514 (GRCm39)	Y182C	probably damaging	Het
Anxa3	A	T	5: 96,986,179 (GRCm39)	N273Y	probably damaging	Het
Apobec2	T	C	17: 48,730,015 (GRCm39)	E217G	probably damaging	Het
Arhgap24	A	G	5: 102,993,882 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,279,240 (GRCm39)	H374R	possibly damaging	Het
Camsap2	T	C	1: 136,273,108 (GRCm39)	D23G	probably damaging	Het
Ccr2	T	C	9: 123,906,197 (GRCm39)	V159A	probably damaging	Het
Cfap61	T	A	2: 145,884,645 (GRCm39)	D614E	unknown	Het
Crb2	G	A	2: 37,673,412 (GRCm39)	G103R	probably damaging	Het
Cyp2b9	A	G	7: 25,898,596 (GRCm39)	Y317C	probably damaging	Het
Dhx36	A	G	3: 62,379,508 (GRCm39)	V860A	probably benign	Het
Dnah3	T	C	7: 119,672,815 (GRCm39)	D553G	probably benign	Het
Dnah7c	T	C	1: 46,496,450 (GRCm39)	S112P	probably benign	Het
Dnah9	A	G	11: 65,732,240 (GRCm39)	F4222S	probably benign	Het
Ei24	T	C	9: 36,701,211 (GRCm39)	D36G	probably damaging	Het
Etv3	G	T	3: 87,435,363 (GRCm39)	R78L	possibly damaging	Het
Fbxo34	T	C	14: 47,767,798 (GRCm39)	L437P	possibly damaging	Het
Foxn1	T	C	11: 78,261,970 (GRCm39)	D133G	possibly damaging	Het
Gabra1	T	A	11: 42,045,660 (GRCm39)	D150V	possibly damaging	Het
Gpr158	T	C	2: 21,373,092 (GRCm39)	L9P	probably damaging	Het
H2-M10.3	G	A	17: 36,677,435 (GRCm39)	T281I	probably damaging	Het
Il18r1	T	C	1: 40,537,830 (GRCm39)	S532P	not run	Het
Itpr2	T	C	6: 146,228,608 (GRCm39)	D1329G	probably damaging	Het
Jakmip2	A	T	18: 43,704,191 (GRCm39)	N384K	probably benign	Het
Kdsr	A	G	1: 106,662,290 (GRCm39)	V255A	possibly damaging	Het
Kifc1	A	G	17: 34,103,777 (GRCm39)	L182P	probably damaging	Het
Lgals8	G	A	13: 12,463,343 (GRCm39)	R198*	probably null	Het
Lrrk1	A	T	7: 65,912,310 (GRCm39)	M1750K	probably benign	Het
Lrsam1	A	G	2: 32,830,251 (GRCm39)		probably null	Het
Lztr1	C	T	16: 17,327,525 (GRCm39)	A76V	possibly damaging	Het
Mcc	G	T	18: 44,626,499 (GRCm39)	H366N	probably benign	Het
Mif4gd	A	G	11: 115,499,222 (GRCm39)	V220A	possibly damaging	Het
Mtmr12	T	A	15: 12,270,037 (GRCm39)	F708L	probably damaging	Het
Muc16	A	T	9: 18,550,958 (GRCm39)	W5112R	probably benign	Het
Ndrg2	A	G	14: 52,146,380 (GRCm39)	I140T	probably benign	Het
Nid2	C	A	14: 19,841,635 (GRCm39)	Q887K	probably benign	Het
Nop16	A	T	13: 54,737,550 (GRCm39)	S48T	possibly damaging	Het
Nrap	G	A	19: 56,354,859 (GRCm39)	T489I	possibly damaging	Het
Oas1e	C	T	5: 120,929,951 (GRCm39)	G189D	probably damaging	Het
Or4a39	A	G	2: 89,237,250 (GRCm39)	Y58H	possibly damaging	Het
Or7g34	A	T	9: 19,477,949 (GRCm39)	C244S	probably damaging	Het
Pcdha5	A	T	18: 37,095,171 (GRCm39)	D560V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phldb2	C	T	16: 45,594,603 (GRCm39)	D901N	possibly damaging	Het
Piezo1	T	C	8: 123,212,035 (GRCm39)	H2058R		Het
Ptprz1	T	C	6: 23,022,266 (GRCm39)	F1714L	probably damaging	Het
Rasa2	T	C	9: 96,434,353 (GRCm39)		probably null	Het
Recql	C	T	6: 142,320,611 (GRCm39)	D146N	probably damaging	Het
Rnf6	T	G	5: 146,148,602 (GRCm39)	S139R	probably damaging	Het
Rock1	A	G	18: 10,067,631 (GRCm39)	S1301P	probably damaging	Het
Safb2	A	G	17: 56,889,982 (GRCm39)		probably null	Het
Setd5	T	A	6: 113,087,850 (GRCm39)	I137N	probably damaging	Het
Sf3b6	G	A	12: 4,870,619 (GRCm39)	R19Q	probably damaging	Het
Slc15a5	T	A	6: 138,020,496 (GRCm39)	H279L	possibly damaging	Het
Slc26a9	A	G	1: 131,681,711 (GRCm39)	T175A	probably damaging	Het
Sspo	A	T	6: 48,470,820 (GRCm39)	N36I	probably damaging	Het
Supv3l1	A	C	10: 62,268,090 (GRCm39)	F585C	probably damaging	Het
Tnrc6c	G	T	11: 117,632,507 (GRCm39)	V1070L	probably benign	Het
Vmn2r53	T	A	7: 12,315,846 (GRCm39)	M658L	probably benign	Het
Zc3h13	A	G	14: 75,546,349 (GRCm39)	D150G	unknown	Het
Zfp607b	T	C	7: 27,402,921 (GRCm39)	V459A	probably benign	Het
Zfp653	T	C	9: 21,982,427 (GRCm39)	R71G	probably damaging	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
R5174:Ptgis	UTSW	2	167,045,390 (GRCm39)	critical splice acceptor 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
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'- AACTCACTAATGGGCCCCTTC -3'
(R):5'- CAAGCCTTTAACCAGTCCAGTC -3'

Sequencing Primer
(F):5'- ATGCTCCGCTAACCCTGTG -3'
(R):5'- CACTTCCCATTGTGCTCAGTAGTAG -3'

Posted On

2019-10-17