Mutagenetix > Incidental Mutation

Incidental Mutation 'R7650:Ptgir'

590749

Institutional Source

Beutler Lab

Gene Symbol

Ptgir

Ensembl Gene

ENSMUSG00000043017

Gene Name

prostaglandin I receptor (IP)

Synonyms

IP, prostacyclin receptor

MMRRC Submission

045727-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16640442-16644828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16640876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 56 (V56A)

Ref Sequence

ENSEMBL: ENSMUSP00000122080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086101] [ENSMUST00000144408]

AlphaFold

P43252

PDB Structure

Molecular analysis of the interaction between the prostacyclin receptor and the first PDZ domain of PDZK1 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000086101

SMART Domains

Protein: ENSMUSP00000083270
Gene: ENSMUSG00000043017

Domain	Start	End	E-Value	Type
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	100	119	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144408
AA Change: V56A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122080
Gene: ENSMUSG00000043017
AA Change: V56A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	49	291	2.6e-11	PFAM
Pfam:7tm_1	58	319	1.2e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased susceptibility to thrombosis and injury-induced vascular proliferation, and decreased inflammatory and pain responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	G	A	7: 30,399,214 (GRCm39)	V3I	probably benign	Het
Adam33	T	C	2: 130,903,067 (GRCm39)	E59G	probably damaging	Het
Akap13	T	A	7: 75,293,202 (GRCm39)	V45E	probably benign	Het
Ap1s1	A	G	5: 137,074,387 (GRCm39)	S28P	probably benign	Het
Btnl2	T	C	17: 34,577,103 (GRCm39)	L86P	probably damaging	Het
Carm1	G	A	9: 21,491,668 (GRCm39)	V246I	probably benign	Het
Cdk5rap1	C	T	2: 154,196,036 (GRCm39)	D283N	probably benign	Het
Cfap58	C	A	19: 47,974,967 (GRCm39)	N709K	possibly damaging	Het
Col24a1	A	G	3: 145,020,214 (GRCm39)	D195G	probably benign	Het
Dcaf1	A	G	9: 106,715,543 (GRCm39)	D220G	probably benign	Het
Ddias	C	T	7: 92,508,143 (GRCm39)	G591R	probably benign	Het
Defb22	A	T	2: 152,328,023 (GRCm39)	I54K	probably benign	Het
Dennd4b	G	A	3: 90,176,056 (GRCm39)	W202*	probably null	Het
F2	T	C	2: 91,458,741 (GRCm39)	N523S	possibly damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fanca	A	T	8: 123,995,303 (GRCm39)		probably null	Het
Fezf2	T	C	14: 12,342,653 (GRCm38)	H404R	probably damaging	Het
Fry	A	G	5: 150,336,883 (GRCm39)	N1418S	probably damaging	Het
Gak	A	G	5: 108,732,161 (GRCm39)	S776P	probably benign	Het
Gbf1	A	G	19: 46,260,978 (GRCm39)	H1181R	probably damaging	Het
Gdf9	G	A	11: 53,327,925 (GRCm39)	E294K	probably benign	Het
Gje1	G	A	10: 14,592,168 (GRCm39)	R205*	probably null	Het
Gm8206	T	C	14: 6,055,211 (GRCm38)		probably null	Het
Gpr162	T	A	6: 124,838,806 (GRCm39)		probably benign	Het
Gxylt1	C	T	15: 93,143,539 (GRCm39)	R363H	probably benign	Het
Hnrnph1	A	T	11: 50,274,726 (GRCm39)	M396L	probably benign	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Ice1	T	A	13: 70,753,602 (GRCm39)	Q828L	probably damaging	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Il10	A	T	1: 130,949,192 (GRCm39)	T118S	probably benign	Het
Itpr2	C	T	6: 146,135,492 (GRCm39)	R1813Q	probably benign	Het
Kbtbd12	T	A	6: 88,595,530 (GRCm39)	Q100L	probably damaging	Het
Kin	A	G	2: 10,096,979 (GRCm39)	D276G	possibly damaging	Het
Klhl1	T	C	14: 96,584,379 (GRCm39)	T284A	probably damaging	Het
Kmt2d	C	T	15: 98,748,751 (GRCm39)	A2858T	unknown	Het
Krt8	G	A	15: 101,912,598 (GRCm39)	T26M	probably benign	Het
Lama3	T	A	18: 12,670,895 (GRCm39)	M827K	probably benign	Het
Lingo3	T	C	10: 80,671,597 (GRCm39)	N111S	probably damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Metap1	A	G	3: 138,172,128 (GRCm39)	V263A	probably damaging	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Muc5ac	A	G	7: 141,363,159 (GRCm39)	T2157A	unknown	Het
Myo1d	G	T	11: 80,492,510 (GRCm39)	H748Q	probably benign	Het
Nfkbiz	A	T	16: 55,638,202 (GRCm39)	N419K	probably benign	Het
Nol10	T	C	12: 17,412,683 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,594,105 (GRCm39)	L284P	probably damaging	Het
Nrp1	T	A	8: 129,224,495 (GRCm39)	W753R	possibly damaging	Het
Obscn	A	G	11: 58,951,820 (GRCm39)	S3978P	probably benign	Het
Opa3	C	A	7: 18,978,896 (GRCm39)	N120K	probably benign	Het
Or5k17	T	A	16: 58,746,416 (GRCm39)	R173*	probably null	Het
Or8g53	A	T	9: 39,683,169 (GRCm39)	F309Y	probably benign	Het
Pabpc1l	T	C	2: 163,891,510 (GRCm39)	L576S	probably benign	Het
Panx3	A	G	9: 37,572,701 (GRCm39)	L283S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,667 (GRCm39)	V659E	probably damaging	Het
Pde4dip	A	T	3: 97,606,423 (GRCm39)		probably null	Het
Pkd1l3	T	C	8: 110,399,217 (GRCm39)	V2200A	probably benign	Het
Pkp3	G	A	7: 140,662,283 (GRCm39)	M112I	probably benign	Het
Prex2	T	C	1: 11,220,078 (GRCm39)	I683T	possibly damaging	Het
Psg22	C	A	7: 18,460,684 (GRCm39)	Q438K	possibly damaging	Het
Pus7	G	T	5: 23,965,244 (GRCm39)	T304K	probably damaging	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Ros1	C	T	10: 51,922,305 (GRCm39)	G2277D	probably benign	Het
Rpain	A	T	11: 70,861,271 (GRCm39)		probably benign	Het
Shh	C	A	5: 28,663,304 (GRCm39)	S288I	probably benign	Het
Slc26a5	C	T	5: 22,039,328 (GRCm39)	V259M	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slit1	T	A	19: 41,618,363 (GRCm39)	N771I	probably damaging	Het
Stim1	T	A	7: 102,078,034 (GRCm39)	S179T		Het
Syk	A	G	13: 52,765,131 (GRCm39)	D86G	probably benign	Het
Tmem132b	T	G	5: 125,864,074 (GRCm39)	S727A	probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Trpm6	A	T	19: 18,853,377 (GRCm39)	D1799V	possibly damaging	Het
Ube4a	A	T	9: 44,844,734 (GRCm39)	I839N	probably damaging	Het
Ugt2b36	A	G	5: 87,228,831 (GRCm39)	I404T	probably damaging	Het
Ushbp1	T	A	8: 71,843,568 (GRCm39)	Q290L	possibly damaging	Het
Vcl	T	A	14: 21,045,114 (GRCm39)	I273K	probably damaging	Het
Vmn2r73	T	A	7: 85,521,147 (GRCm39)	I274L	probably benign	Het
Zc3h7b	A	G	15: 81,677,851 (GRCm39)	D945G	possibly damaging	Het
Zfp454	A	G	11: 50,774,580 (GRCm39)	L31P	probably damaging	Het
Zfp536	C	A	7: 37,269,117 (GRCm39)	V100L	probably damaging	Het
Zfp942	A	T	17: 22,147,818 (GRCm39)	S270R	probably benign	Het

Other mutations in Ptgir

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02496:Ptgir	APN	7	16,641,409 (GRCm39)	missense	possibly damaging	0.76
IGL02928:Ptgir	APN	7	16,642,923 (GRCm39)	missense	possibly damaging	0.74
IGL02950:Ptgir	APN	7	16,641,526 (GRCm39)	missense	probably damaging	1.00
R1104:Ptgir	UTSW	7	16,641,055 (GRCm39)	splice site	probably null
R2159:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R2161:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R2162:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R2184:Ptgir	UTSW	7	16,642,708 (GRCm39)	missense	probably damaging	1.00
R2866:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R3845:Ptgir	UTSW	7	16,641,311 (GRCm39)	missense	probably damaging	0.99
R3953:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R3955:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R3956:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R3957:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R4092:Ptgir	UTSW	7	16,640,932 (GRCm39)	missense	probably damaging	1.00
R4245:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R4354:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R4551:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R4563:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R4564:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R4657:Ptgir	UTSW	7	16,641,071 (GRCm39)	missense	probably benign	0.00
R4670:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R4671:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R4825:Ptgir	UTSW	7	16,642,768 (GRCm39)	missense	probably damaging	1.00
R4835:Ptgir	UTSW	7	16,640,794 (GRCm39)	missense	possibly damaging	0.88
R5179:Ptgir	UTSW	7	16,641,253 (GRCm39)	missense	probably damaging	1.00
R5226:Ptgir	UTSW	7	16,642,645 (GRCm39)	missense	probably damaging	1.00
R6039:Ptgir	UTSW	7	16,640,815 (GRCm39)	missense	possibly damaging	0.64
R6039:Ptgir	UTSW	7	16,640,815 (GRCm39)	missense	possibly damaging	0.64
R7311:Ptgir	UTSW	7	16,640,973 (GRCm39)	missense	probably damaging	1.00
R8673:Ptgir	UTSW	7	16,641,287 (GRCm39)	missense	probably damaging	0.99
R8992:Ptgir	UTSW	7	16,641,220 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGGAATTGACTGGCAGATCC -3'
(R):5'- AAAGTGTCACACAGCATCGTCC -3'

Sequencing Primer
(F):5'- TCCCAGATCCTATGAAGATGATGGC -3'
(R):5'- ACAGCATCGTCCCACCGTG -3'

Posted On

2019-10-24