Mutagenetix > Incidental Mutation

Incidental Mutation 'R2019:Ptgis'

223606

Institutional Source

Beutler Lab

Gene Symbol

Ptgis

Ensembl Gene

ENSMUSG00000017969

Gene Name

prostaglandin I2 (prostacyclin) synthase

Synonyms

Cyp8a1, Pgi2, Pgis

MMRRC Submission

040028-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2019 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

167033725-167082524 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 167056730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 286 (Q286*)

Ref Sequence

ENSEMBL: ENSMUSP00000085357 (fasta)

Gene Model

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

AlphaFold

O35074

Predicted Effect

probably null
Transcript: ENSMUST00000018113
AA Change: Q286*

SMART Domains

Protein: ENSMUSP00000018113
Gene: ENSMUSG00000017969
AA Change: Q286*

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 null
Transcript: ENSMUST00000088041
AA Change: Q286*

SMART Domains

Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969
AA Change: Q286*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (71/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,293,899 (GRCm39)	F252L	possibly damaging	Het
Abcc9	G	A	6: 142,621,160 (GRCm39)	L527F	probably damaging	Het
Abi3bp	A	G	16: 56,498,159 (GRCm39)	T918A	probably damaging	Het
Acp3	C	T	9: 104,201,901 (GRCm39)	G81R	probably damaging	Het
Acss3	C	T	10: 106,772,068 (GRCm39)	S669N	probably benign	Het
Akt1	T	C	12: 112,626,059 (GRCm39)	N71S	probably damaging	Het
Amz1	G	T	5: 140,737,719 (GRCm39)	M326I	probably benign	Het
Ankrd36	A	G	11: 5,639,140 (GRCm39)	I1351V	probably benign	Het
Art2b	T	C	7: 101,229,194 (GRCm39)	D235G	probably benign	Het
Ccdc141	A	C	2: 76,841,909 (GRCm39)	I1507M	probably damaging	Het
Dck	A	G	5: 88,921,943 (GRCm39)	Y135C	probably damaging	Het
Dmbt1	T	G	7: 130,712,718 (GRCm39)	I1563S	possibly damaging	Het
Dnttip2	T	C	3: 122,074,393 (GRCm39)	V610A	possibly damaging	Het
Efhb	A	G	17: 53,708,505 (GRCm39)	S722P	probably damaging	Het
Emx2	A	G	19: 59,447,771 (GRCm39)	S42G	probably benign	Het
Ermard	C	T	17: 15,273,527 (GRCm39)	R371C	probably damaging	Het
Fat1	T	G	8: 45,476,783 (GRCm39)	I1943S	probably damaging	Het
Fignl1	T	C	11: 11,752,054 (GRCm39)	K334E	probably damaging	Het
Fmn1	A	C	2: 113,194,825 (GRCm39)	K175T	unknown	Het
Gm7247	A	T	14: 51,602,804 (GRCm39)	M47L	possibly damaging	Het
Gpalpp1	A	T	14: 76,348,131 (GRCm39)		probably null	Het
Hc	A	C	2: 34,903,540 (GRCm39)	F1038C	probably damaging	Het
Ifngr1	A	T	10: 19,467,861 (GRCm39)	M10L	probably damaging	Het
Irx5	T	G	8: 93,084,992 (GRCm39)	Y61D	probably damaging	Het
Itgax	A	G	7: 127,747,698 (GRCm39)	H1038R	probably benign	Het
Jag1	C	T	2: 136,926,599 (GRCm39)	E982K	probably benign	Het
Klhdc9	T	C	1: 171,186,509 (GRCm39)	D309G	probably damaging	Het
Lamp3	A	T	16: 19,519,961 (GRCm39)	M74K	probably benign	Het
Lrpprc	A	T	17: 85,059,759 (GRCm39)	L685Q	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Mgat5b	A	G	11: 116,838,174 (GRCm39)	Y271C	probably benign	Het
Mtmr6	T	C	14: 60,536,441 (GRCm39)	M557T	probably benign	Het
Myo16	T	C	8: 10,426,260 (GRCm39)	L339P	probably benign	Het
Neb	G	T	2: 52,122,288 (GRCm39)	Y580*	probably null	Het
Npat	A	G	9: 53,473,791 (GRCm39)	K528E	probably benign	Het
Or1j4	A	T	2: 36,740,418 (GRCm39)	Y120F	possibly damaging	Het
Or4a72	A	G	2: 89,405,737 (GRCm39)	V111A	probably damaging	Het
Or5m3	A	T	2: 85,838,567 (GRCm39)	Y149F	probably damaging	Het
Parp8	G	A	13: 117,004,968 (GRCm39)		probably benign	Het
Phf3	G	A	1: 30,850,928 (GRCm39)	T1142M	probably damaging	Het
Phospho1	G	A	11: 95,721,932 (GRCm39)	V201M	probably damaging	Het
Piezo1	A	G	8: 123,209,451 (GRCm39)	F2371L	probably benign	Het
Pitpnm1	T	C	19: 4,163,641 (GRCm39)	S1209P	probably damaging	Het
Pkd1	T	A	17: 24,787,658 (GRCm39)	C20*	probably null	Het
Prdm5	C	A	6: 65,808,340 (GRCm39)	N95K	probably damaging	Het
Prkx	T	C	X: 76,809,010 (GRCm39)	D270G	probably damaging	Het
Rpf1	T	A	3: 146,226,976 (GRCm39)	N59I	probably damaging	Het
Rpl3l	A	C	17: 24,954,490 (GRCm39)		probably benign	Het
Ryr2	C	T	13: 11,866,074 (GRCm39)	G292D	possibly damaging	Het
Ryr3	G	T	2: 112,611,410 (GRCm39)	N2257K	probably benign	Het
Sla	T	C	15: 66,654,404 (GRCm39)	Y278C	probably damaging	Het
Slc4a10	A	T	2: 62,064,725 (GRCm39)	D193V	probably damaging	Het
Spire2	T	C	8: 124,059,657 (GRCm39)	C52R	probably damaging	Het
Tada2b	T	C	5: 36,641,250 (GRCm39)	Y51C	probably damaging	Het
Tarbp1	C	T	8: 127,154,853 (GRCm39)	V1424I	probably damaging	Het
Tbpl1	T	A	10: 22,583,576 (GRCm39)	E131D	probably damaging	Het
Tgfbrap1	A	G	1: 43,093,677 (GRCm39)		probably null	Het
Tmem116	A	G	5: 121,627,317 (GRCm39)	I151M	possibly damaging	Het
Tmem30a	T	C	9: 79,681,500 (GRCm39)	D223G	probably damaging	Het
Trim13	T	A	14: 61,842,335 (GRCm39)	C117*	probably null	Het
Ttn	C	G	2: 76,585,676 (GRCm39)	D21987H	probably damaging	Het
Txnrd1	G	A	10: 82,713,207 (GRCm39)	V90I	probably benign	Het
Unc79	G	A	12: 103,137,830 (GRCm39)		probably null	Het
Upp1	A	T	11: 9,083,240 (GRCm39)	M111L	possibly damaging	Het
Vmn2r79	G	T	7: 86,651,634 (GRCm39)	L344F	probably benign	Het
Vps39	T	C	2: 120,173,708 (GRCm39)	Y147C	probably damaging	Het
Wdr59	A	G	8: 112,193,425 (GRCm39)	Y666H	probably damaging	Het
Wdr95	A	G	5: 149,497,613 (GRCm39)		probably benign	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	167,050,199 (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
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'- CTACAAGCTAGAGGCACAGC -3'
(R):5'- AAGACCATGCATGCAGTGTC -3'

Sequencing Primer
(F):5'- GGAGGATCACATGTTCAAGATTGTCC -3'
(R):5'- TGTCAAAAACCGCCTGTGG -3'

Posted On

2014-08-25