Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Ptger1'

719239

Institutional Source

Beutler Lab

Gene Symbol

Ptger1

Ensembl Gene

ENSMUSG00000019464

Gene Name

prostaglandin E receptor 1 (subtype EP1)

Synonyms

Ptgerep1, 42kDa, EP1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84393307-84399382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84396002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 353 (V353E)

Ref Sequence

ENSEMBL: ENSMUSP00000019608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005616] [ENSMUST00000019577] [ENSMUST00000019608] [ENSMUST00000132945] [ENSMUST00000144258]

AlphaFold

P35375

Predicted Effect

probably benign
Transcript: ENSMUST00000005616

SMART Domains

Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
Hr1	37	101	6.74e-20	SMART
Hr1	126	194	1.13e-21	SMART
Hr1	216	284	7.79e-25	SMART
C2	328	464	2.45e-1	SMART
low complexity region	569	601	N/A	INTRINSIC
S_TKc	619	878	2.83e-96	SMART
S_TK_X	879	943	5.29e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000019577

SMART Domains

Protein: ENSMUSP00000019577
Gene: ENSMUSG00000019433

Domain	Start	End	E-Value	Type
low complexity region	26	37	N/A	INTRINSIC
low complexity region	47	58	N/A	INTRINSIC
PDZ	141	215	9.07e-13	SMART
low complexity region	236	249	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000019608
AA Change: V353E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019608
Gene: ENSMUSG00000019464
AA Change: V353E

Domain	Start	End	E-Value	Type
Pfam:7tm_1	52	354	2.3e-17	PFAM
low complexity region	356	372	N/A	INTRINSIC
low complexity region	392	405	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132945

SMART Domains

Protein: ENSMUSP00000115054
Gene: ENSMUSG00000057672

Domain	Start	End	E-Value	Type
low complexity region	27	42	N/A	INTRINSIC
Hr1	49	113	6.74e-20	SMART
Hr1	138	206	1.13e-21	SMART
Hr1	228	296	7.79e-25	SMART
C2	340	476	2.45e-1	SMART
low complexity region	581	613	N/A	INTRINSIC
Pfam:Pkinase	631	756	2.2e-23	PFAM
Pfam:Pkinase_Tyr	631	757	1.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144258

SMART Domains

Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
Hr1	42	106	6.74e-20	SMART
Hr1	131	199	1.13e-21	SMART
Hr1	221	289	7.79e-25	SMART
C2	333	469	2.45e-1	SMART
low complexity region	574	606	N/A	INTRINSIC
S_TKc	624	883	2.83e-96	SMART
S_TK_X	884	948	5.29e-18	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice may exhibit partial prenatal lethality, pain threshold abnormalities, behavioral disinhibition in response to stress, low blood pressure, defects in type IV hypersensitivity reactions, resistance to chemically induced tumors and impaired response to water deprivation. [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
Actn1	A	G	12: 80,230,393 (GRCm39)	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,616,237 (GRCm39)	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,172,026 (GRCm39)	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,617,551 (GRCm39)	P109S	probably damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Capns1	C	T	7: 29,891,612 (GRCm39)	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,455,994 (GRCm39)	V341I	possibly damaging	Het
Cd36	T	C	5: 18,002,033 (GRCm39)	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Ckap2l	G	A	2: 129,111,161 (GRCm39)	Q679*	probably null	Het
Clec4g	T	A	8: 3,768,565 (GRCm39)	N93I	probably benign	Het
Cntnap2	T	A	6: 45,992,165 (GRCm39)	L364Q	probably damaging	Het
Cul9	A	G	17: 46,841,026 (GRCm39)	M748T	probably benign	Het
Dnah11	A	T	12: 118,150,711 (GRCm39)	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,642,260 (GRCm39)	Y61N	probably benign	Het
Dock6	A	T	9: 21,713,802 (GRCm39)	Y1909*	probably null	Het
Dock8	T	A	19: 25,165,739 (GRCm39)	D1874E	probably benign	Het
Dpm1	A	G	2: 168,072,210 (GRCm39)	S22P	probably benign	Het
Dysf	T	C	6: 84,128,885 (GRCm39)	L1385P	probably damaging	Het
Egf	T	C	3: 129,491,421 (GRCm39)	T859A	probably benign	Het
Eif2b1	A	T	5: 124,711,867 (GRCm39)	S162T	probably benign	Het
Emilin1	T	C	5: 31,075,484 (GRCm39)	L575P	probably damaging	Het
Erp27	T	A	6: 136,886,550 (GRCm39)	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,765,945 (GRCm39)	D738E	possibly damaging	Het
Fcgbp	T	G	7: 27,790,937 (GRCm39)	C733G	probably damaging	Het
Fgb	T	A	3: 82,957,122 (GRCm39)		probably benign	Het
Gata3os	A	T	2: 9,887,634 (GRCm39)	T12S	unknown	Het
Got1l1	G	T	8: 27,688,503 (GRCm39)	Q283K	probably benign	Het
Grk2	G	A	19: 4,340,871 (GRCm39)	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,211,334 (GRCm39)	D194G	probably benign	Het
Ipcef1	G	A	10: 6,840,620 (GRCm39)	T363I	probably damaging	Het
Itga10	C	A	3: 96,564,273 (GRCm39)	T922N	probably damaging	Het
Itgad	T	C	7: 127,777,552 (GRCm39)	I144T	probably benign	Het
Kat6b	C	A	14: 21,567,564 (GRCm39)	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,088,383 (GRCm39)	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,486,355 (GRCm39)	S4733G	probably damaging	Het
Lrig3	A	G	10: 125,850,736 (GRCm39)	I1101V	probably benign	Het
Lrp1	T	A	10: 127,431,229 (GRCm39)	N311I	probably damaging	Het
Man2a1	A	T	17: 64,958,310 (GRCm39)	K275I	probably benign	Het
Map3k10	T	A	7: 27,364,434 (GRCm39)	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869 (GRCm39)	R408W	probably damaging	Het
Mast1	A	G	8: 85,647,805 (GRCm39)	M523T	probably damaging	Het
Mast4	T	C	13: 102,873,593 (GRCm39)	H1925R	probably benign	Het
Med12l	C	T	3: 58,984,207 (GRCm39)	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,333,237 (GRCm39)	K65E	probably damaging	Het
Mical1	T	C	10: 41,358,602 (GRCm39)	S507P	probably benign	Het
Miga2	T	C	2: 30,268,400 (GRCm39)	V433A	unknown	Het
Mpdz	T	C	4: 81,274,653 (GRCm39)	T848A	probably benign	Het
Mycn	A	G	12: 12,989,778 (GRCm39)	V206A	probably benign	Het
Ndst1	G	A	18: 60,838,220 (GRCm39)	Q342*	probably null	Het
Nectin1	A	G	9: 43,702,369 (GRCm39)	M39V	probably benign	Het
Nectin4	A	T	1: 171,210,209 (GRCm39)	R234*	probably null	Het
Ngb	C	G	12: 87,145,317 (GRCm39)	V113L	possibly damaging	Het
Nphp3	T	A	9: 103,913,337 (GRCm39)	Y990N	probably damaging	Het
Nrdc	T	C	4: 108,915,833 (GRCm39)		probably null	Het
Or10a2	A	T	7: 106,673,739 (GRCm39)	K235*	probably null	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or5p60	T	A	7: 107,723,801 (GRCm39)	Y223F	probably benign	Het
Osbpl6	A	G	2: 76,415,603 (GRCm39)	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,855,882 (GRCm39)	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,161,800 (GRCm39)	D164G	probably damaging	Het
Pde4d	T	A	13: 110,071,915 (GRCm39)	I303N	probably damaging	Het
Pdf	T	A	8: 107,774,972 (GRCm39)	M87L	probably benign	Het
Pigb	A	G	9: 72,941,840 (GRCm39)	S140P	probably damaging	Het
Plch1	T	A	3: 63,758,549 (GRCm39)		probably benign	Het
Plxna1	G	T	6: 89,319,633 (GRCm39)	D557E	probably benign	Het
Polr2e	C	T	10: 79,872,792 (GRCm39)	V149M	probably benign	Het
Polr3a	A	T	14: 24,503,313 (GRCm39)	C1174S	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Psmd2	T	A	16: 20,474,369 (GRCm39)	S308R	probably benign	Het
Ptprc	A	G	1: 137,996,111 (GRCm39)	M940T	probably benign	Het
Pus7l	T	C	15: 94,425,781 (GRCm39)	N540S	probably damaging	Het
Rap1gds1	T	A	3: 138,756,317 (GRCm39)	I13L	probably benign	Het
Rasl10b	A	T	11: 83,303,590 (GRCm39)	N49I	probably damaging	Het
Rftn1	A	T	17: 50,301,237 (GRCm39)	N537K	probably benign	Het
Rnase4	A	G	14: 51,342,645 (GRCm39)	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,338,302 (GRCm39)	N26K	probably benign	Het
Rnf31	G	A	14: 55,836,269 (GRCm39)		probably null	Het
Rpusd3	C	G	6: 113,393,200 (GRCm39)	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,664,270 (GRCm39)	V1694L	probably benign	Het
Sanbr	T	C	11: 23,559,098 (GRCm39)	Y372C	probably damaging	Het
Sephs2	T	C	7: 126,872,346 (GRCm39)	D249G	probably damaging	Het
Serpina10	A	G	12: 103,583,217 (GRCm39)	I409T	probably damaging	Het
Serpina5	C	T	12: 104,069,403 (GRCm39)	A205V	probably damaging	Het
Sfr1	T	A	19: 47,723,453 (GRCm39)	V319E	probably damaging	Het
Skil	T	A	3: 31,171,639 (GRCm39)	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,049,954 (GRCm39)	T154A	probably benign	Het
Slc27a2	T	A	2: 126,429,846 (GRCm39)	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,726,808 (GRCm39)	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,344,443 (GRCm39)	I144M	probably benign	Het
Stat5a	T	A	11: 100,771,161 (GRCm39)	V580E		Het
Tnk1	C	T	11: 69,746,011 (GRCm39)	D305N	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Trav12-2	A	G	14: 53,854,085 (GRCm39)	N20D	probably benign	Het
Trav16	T	A	14: 53,981,046 (GRCm39)	N78K	probably damaging	Het
Trf	C	T	9: 103,104,130 (GRCm39)	A78T	probably damaging	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,477,261 (GRCm39)	F383L	probably benign	Het
Vwa2	T	C	19: 56,895,208 (GRCm39)	S461P	probably benign	Het
Zfp991	G	A	4: 147,264,327 (GRCm39)	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,134,440 (GRCm39)	F15S	probably damaging	Het

Other mutations in Ptger1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01975:Ptger1	APN	8	84,396,149 (GRCm39)	unclassified	probably benign
IGL02069:Ptger1	APN	8	84,396,086 (GRCm39)	missense	probably benign
G1citation:Ptger1	UTSW	8	84,395,279 (GRCm39)	missense	probably benign
R0042:Ptger1	UTSW	8	84,394,795 (GRCm39)	missense	probably benign	0.31
R0069:Ptger1	UTSW	8	84,394,948 (GRCm39)	missense	possibly damaging	0.91
R1694:Ptger1	UTSW	8	84,395,107 (GRCm39)	missense	probably benign	0.01
R1754:Ptger1	UTSW	8	84,395,926 (GRCm39)	missense	probably benign	0.34
R1858:Ptger1	UTSW	8	84,395,107 (GRCm39)	missense	probably benign	0.02
R1973:Ptger1	UTSW	8	84,396,083 (GRCm39)	missense	probably benign	0.13
R2217:Ptger1	UTSW	8	84,395,357 (GRCm39)	missense	probably benign	0.03
R5276:Ptger1	UTSW	8	84,395,974 (GRCm39)	missense	possibly damaging	0.56
R5569:Ptger1	UTSW	8	84,394,961 (GRCm39)	splice site	probably null
R6822:Ptger1	UTSW	8	84,395,279 (GRCm39)	missense	probably benign
R8474:Ptger1	UTSW	8	84,395,267 (GRCm39)	missense	probably benign
R8680:Ptger1	UTSW	8	84,394,654 (GRCm39)	missense	probably damaging	1.00
R9570:Ptger1	UTSW	8	84,395,461 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACAGATCCTATTTGTCCTGC -3'
(R):5'- CCAGCCCAGAATGGTTTGAC -3'

Sequencing Primer
(F):5'- AGATCCTATTTGTCCTGCATGGC -3'
(R):5'- CAGCCCAGAATGGTTTGACTTAGC -3'

Posted On

2022-07-18