Mutagenetix > Incidental Mutation

Incidental Mutation 'R1694:Ptger1'

192022

Institutional Source

Beutler Lab

Gene Symbol

Ptger1

Ensembl Gene

ENSMUSG00000019464

Gene Name

prostaglandin E receptor 1 (subtype EP1)

Synonyms

Ptgerep1, 42kDa, EP1

MMRRC Submission

039727-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84393307-84399382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84395107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 195 (G195R)

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 benign
Transcript: ENSMUST00000019608
AA Change: G195R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000019608
Gene: ENSMUSG00000019464
AA Change: G195R

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

noncoding transcript
Transcript: ENSMUST00000124946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128523

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

noncoding transcript
Transcript: ENSMUST00000138898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212519

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	T	C	10: 120,614,533 (GRCm39)		probably benign	Het
4930447C04Rik	C	T	12: 72,931,992 (GRCm39)		probably null	Het
Abca16	A	G	7: 120,119,307 (GRCm39)	H1017R	probably damaging	Het
Actl11	A	G	9: 107,807,207 (GRCm39)	Y510C	probably damaging	Het
Agbl2	A	G	2: 90,631,664 (GRCm39)	T341A	probably damaging	Het
Agbl5	A	G	5: 31,050,726 (GRCm39)	Y458C	probably damaging	Het
Akap5	C	T	12: 76,376,698 (GRCm39)	S710L	probably damaging	Het
Akr1c21	A	G	13: 4,625,177 (GRCm39)	E36G	probably damaging	Het
Arhgap44	A	G	11: 64,944,023 (GRCm39)	S163P	probably damaging	Het
Armc1	A	G	3: 19,189,050 (GRCm39)	V205A	possibly damaging	Het
Asph	A	G	4: 9,610,869 (GRCm39)	L102P	probably damaging	Het
Brca1	T	C	11: 101,422,925 (GRCm39)	E74G	probably damaging	Het
Brms1l	A	G	12: 55,888,385 (GRCm39)	R58G	probably damaging	Het
C1qbp	G	T	11: 70,869,073 (GRCm39)		probably null	Het
Calcrl	A	T	2: 84,169,631 (GRCm39)	L350H	probably damaging	Het
Casr	A	T	16: 36,315,953 (GRCm39)	F706I	probably damaging	Het
Ceacam10	T	A	7: 24,480,491 (GRCm39)	N87K	probably benign	Het
Cfap206	G	T	4: 34,719,058 (GRCm39)	T316K	probably damaging	Het
Col4a3	A	T	1: 82,668,384 (GRCm39)		probably null	Het
Comtd1	A	G	14: 21,897,398 (GRCm39)	V183A	probably damaging	Het
Crygs	A	T	16: 22,625,425 (GRCm39)		probably null	Het
Dact1	C	A	12: 71,359,551 (GRCm39)	T139K	probably damaging	Het
Dlx6	T	C	6: 6,867,173 (GRCm39)	W259R	probably damaging	Het
Dnah9	G	T	11: 65,845,650 (GRCm39)	S627*	probably null	Het
Dnajc11	T	A	4: 152,063,730 (GRCm39)	V442D	probably damaging	Het
Dnajc21	A	T	15: 10,451,649 (GRCm39)	S393T	probably benign	Het
Dpysl3	C	A	18: 43,461,439 (GRCm39)	C584F	possibly damaging	Het
Efcab14	A	G	4: 115,603,736 (GRCm39)	K138R	possibly damaging	Het
Ephb3	A	G	16: 21,040,495 (GRCm39)	E577G	probably damaging	Het
Exoc3	C	T	13: 74,338,184 (GRCm39)		probably null	Het
Fam171a1	A	G	2: 3,226,660 (GRCm39)	S473G	probably benign	Het
Fbxl2	A	T	9: 113,832,239 (GRCm39)	F58L	probably damaging	Het
Fmo6	T	C	1: 162,750,241 (GRCm39)	M272V	probably benign	Het
Gm10000	T	C	12: 104,442,859 (GRCm39)		probably benign	Het
Grik1	T	A	16: 87,746,956 (GRCm39)	D442V	probably damaging	Het
Hectd1	A	G	12: 51,791,375 (GRCm39)	Y2588H	probably damaging	Het
Insrr	A	C	3: 87,711,369 (GRCm39)	T430P	probably benign	Het
Lats1	T	C	10: 7,577,709 (GRCm39)	S278P	probably benign	Het
Lrch4	A	G	5: 137,636,723 (GRCm39)	T463A	probably benign	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Lyst	T	G	13: 13,835,746 (GRCm39)	F1809L	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Magoh	G	T	4: 107,740,362 (GRCm39)	R82L	probably benign	Het
Mdfic2	A	C	6: 98,215,100 (GRCm39)	S174R	probably damaging	Het
Mlh1	A	G	9: 111,057,543 (GRCm39)	V756A	probably damaging	Het
Mlh3	T	C	12: 85,313,915 (GRCm39)	E757G	probably damaging	Het
Mycbp2	T	C	14: 103,464,947 (GRCm39)	T1339A	probably damaging	Het
Myh7b	A	T	2: 155,455,113 (GRCm39)	E46V	probably damaging	Het
Naalad2	T	A	9: 18,238,683 (GRCm39)	R677S	probably damaging	Het
Nadsyn1	G	A	7: 143,361,749 (GRCm39)	T324I	probably benign	Het
Neo1	A	T	9: 58,787,886 (GRCm39)	L1389Q	probably damaging	Het
Nlrp1b	A	G	11: 71,107,681 (GRCm39)		probably null	Het
Nup210	A	C	6: 91,039,785 (GRCm39)	I690S	probably benign	Het
Or55b3	A	T	7: 102,126,547 (GRCm39)	S177T	probably benign	Het
Or5an11	T	A	19: 12,246,281 (GRCm39)	I229N	probably damaging	Het
Or9r7	T	A	10: 129,962,123 (GRCm39)	I268F	possibly damaging	Het
Otud7a	C	A	7: 63,383,458 (GRCm39)	H316N	probably damaging	Het
Pcdh15	T	C	10: 74,429,995 (GRCm39)	S1241P	probably damaging	Het
Pclo	A	G	5: 14,570,977 (GRCm39)	K121E	probably damaging	Het
Pcmtd1	A	T	1: 7,217,872 (GRCm39)	I107L	probably benign	Het
Pde6c	A	G	19: 38,168,673 (GRCm39)	I755V	probably damaging	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,113,240 (GRCm39)	I1532N	probably damaging	Het
Pla2r1	A	G	2: 60,271,428 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,474,621 (GRCm39)	N661S	probably null	Het
Plekhd1	A	G	12: 80,769,095 (GRCm39)	K452E	possibly damaging	Het
Prr12	C	A	7: 44,678,003 (GRCm39)	V2003F	unknown	Het
Ptpn4	T	C	1: 119,711,240 (GRCm39)	Q67R	probably damaging	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rock1	A	G	18: 10,136,094 (GRCm39)		probably null	Het
Rtn1	T	C	12: 72,270,298 (GRCm39)	Y71C	probably damaging	Het
Rtp4	T	C	16: 23,431,870 (GRCm39)	*62Q	probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scimp	G	T	11: 70,684,618 (GRCm39)	P78H	probably damaging	Het
Scn8a	C	A	15: 100,853,409 (GRCm39)	S132*	probably null	Het
Set	A	G	2: 29,959,436 (GRCm39)	I124M	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sgce	A	G	6: 4,689,709 (GRCm39)	S375P	probably damaging	Het
Slc4a1ap	G	C	5: 31,701,098 (GRCm39)	E600Q	probably damaging	Het
Slit1	A	G	19: 41,626,031 (GRCm39)	V577A	possibly damaging	Het
Sqstm1	A	G	11: 50,098,307 (GRCm39)	V153A	probably benign	Het
Src	A	G	2: 157,311,675 (GRCm39)	M468V	possibly damaging	Het
Srrm3	A	G	5: 135,902,079 (GRCm39)		probably benign	Het
Stk11ip	C	T	1: 75,504,030 (GRCm39)	R257W	probably damaging	Het
Tfrc	T	A	16: 32,433,443 (GRCm39)	D32E	probably damaging	Het
Tor1aip2	A	T	1: 155,941,031 (GRCm39)	I446L	probably benign	Het
Trmt11	T	C	10: 30,411,221 (GRCm39)	H424R	probably benign	Het
Urb1	A	G	16: 90,563,928 (GRCm39)	Y1612H	probably benign	Het
Vcan	A	T	13: 89,836,602 (GRCm39)	S2981T	probably damaging	Het
Vdac1	G	C	11: 52,265,190 (GRCm39)	G21A	probably damaging	Het
Vmn2r76	A	G	7: 85,879,356 (GRCm39)	S315P	probably benign	Het
Xpo1	A	G	11: 23,231,399 (GRCm39)	T328A	probably benign	Het
Xrcc5	C	T	1: 72,358,255 (GRCm39)	L197F	possibly damaging	Het
Zfhx2	G	C	14: 55,311,401 (GRCm39)	S431C	possibly damaging	Het
Zfp410	C	T	12: 84,372,494 (GRCm39)	P54S	probably benign	Het
Zfp560	C	A	9: 20,259,282 (GRCm39)	G527*	probably null	Het
Zfp775	A	G	6: 48,596,389 (GRCm39)	T88A	possibly damaging	Het
Zfp780b	T	A	7: 27,663,808 (GRCm39)	H249L	possibly 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
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
R9526:Ptger1	UTSW	8	84,396,002 (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'- ATGACGCTGGGTGCTGTGTCCAAC -3'
(R):5'- CGATCATCGGGACCTGCGGTCTTTC -3'

Sequencing Primer
(F):5'- CTAGCAGGCCATGTGATCC -3'
(R):5'- TTCGGAATCGTCGAGAGC -3'

Posted On

2014-05-14