Mutagenetix > Incidental Mutation

Incidental Mutation 'R8768:Ptger4'

664252

Institutional Source

Beutler Lab

Gene Symbol

Ptger4

Ensembl Gene

ENSMUSG00000039942

Gene Name

prostaglandin E receptor 4 (subtype EP4)

Synonyms

Ptgerep4, EP4

MMRRC Submission

068623-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R8768 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5262880-5273668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5272138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 185 (R185S)

Ref Sequence

ENSEMBL: ENSMUSP00000048736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047379] [ENSMUST00000120563]

AlphaFold

P32240

Predicted Effect

probably benign
Transcript: ENSMUST00000047379
AA Change: R185S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000048736
Gene: ENSMUSG00000039942
AA Change: R185S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	50	258	1.3e-7	PFAM
Pfam:7tm_1	59	357	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120563
AA Change: R160S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112858
Gene: ENSMUSG00000039942
AA Change: R160S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	25	233	1.9e-7	PFAM
Pfam:7tm_1	34	332	8.5e-45	PFAM

Coding Region Coverage

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

Validation Efficiency

99% (76/77)

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). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous targeted null mutants die shortly after birth due to failed closure of the ductus arteriosis. Survivors show decreased migration of Langerhans cells to lymph nodes, contact hypersensitivity and decreased incidence of induced arthritis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	A	T	1: 36,740,588 (GRCm39)	C222S	probably benign	Het
Actrt3	T	G	3: 30,651,992 (GRCm39)	R367S	probably damaging	Het
Alg1	T	C	16: 5,060,416 (GRCm39)	V379A	probably damaging	Het
Ankrd36	A	G	11: 5,593,763 (GRCm39)	E456G	probably benign	Het
Arhgef33	G	T	17: 80,681,148 (GRCm39)	A763S	possibly damaging	Het
Armc5	T	G	7: 127,841,783 (GRCm39)	V597G	probably benign	Het
Asb10	G	T	5: 24,738,690 (GRCm39)	R456S	probably damaging	Het
Asph	A	G	4: 9,453,417 (GRCm39)	F702L	probably damaging	Het
Atf7	T	A	15: 102,449,324 (GRCm39)	T326S	probably benign	Het
Atxn7l2	T	C	3: 108,114,250 (GRCm39)	N171D	probably benign	Het
BC049715	T	A	6: 136,816,979 (GRCm39)	M73K	possibly damaging	Het
C2cd6	A	G	1: 59,105,312 (GRCm39)	V322A	probably benign	Het
Cadps2	A	C	6: 23,382,938 (GRCm39)	C807W	probably damaging	Het
Ccdc57	C	T	11: 120,788,788 (GRCm39)	R353H	probably benign	Het
Ccdc89	T	C	7: 90,075,793 (GRCm39)	M1T	probably null	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Csmd3	T	A	15: 47,561,572 (GRCm39)	I1335F		Het
Dap3	A	G	3: 88,834,334 (GRCm39)	M294T	probably damaging	Het
Dbh	A	G	2: 27,060,328 (GRCm39)	D168G	probably benign	Het
Dchs2	C	A	3: 83,253,592 (GRCm39)	A2334E	probably benign	Het
Dcun1d4	T	A	5: 73,678,310 (GRCm39)	Y102N	probably benign	Het
Dhtkd1	T	C	2: 5,903,533 (GRCm39)	T918A	probably benign	Het
Dmgdh	C	T	13: 93,825,118 (GRCm39)	T147I	possibly damaging	Het
Dmxl2	T	G	9: 54,301,105 (GRCm39)	K2335N	possibly damaging	Het
Efna5	T	C	17: 63,188,125 (GRCm39)	M1V	probably null	Het
Fpr-rs3	T	C	17: 20,844,944 (GRCm39)	N66D	probably damaging	Het
Gas2l2	C	A	11: 83,313,999 (GRCm39)	A438S	probably benign	Het
Hivep3	T	C	4: 119,989,521 (GRCm39)	S1991P	probably damaging	Het
Hsp90b1	A	T	10: 86,541,169 (GRCm39)		probably null	Het
Iars1	T	A	13: 49,878,102 (GRCm39)	N875K	probably damaging	Het
Jag1	A	C	2: 136,943,521 (GRCm39)	M225R	possibly damaging	Het
Jag1	T	C	2: 136,932,708 (GRCm39)		probably benign	Het
Kcnn2	C	T	18: 45,692,502 (GRCm39)	S26L	possibly damaging	Het
Kctd2	T	C	11: 115,311,279 (GRCm39)	S96P	probably damaging	Het
Klhl25	A	G	7: 75,516,359 (GRCm39)	N422D	probably damaging	Het
Lhx8	A	T	3: 154,027,886 (GRCm39)	V222E	possibly damaging	Het
Lrig1	A	T	6: 94,631,840 (GRCm39)	V120D	possibly damaging	Het
Manba	T	A	3: 135,256,995 (GRCm39)	S553T	probably damaging	Het
Mllt10	T	A	2: 18,167,583 (GRCm39)	S503T	probably damaging	Het
Nxpe4	A	G	9: 48,304,050 (GRCm39)	N46D	probably benign	Het
Or1l4b	C	T	2: 37,037,016 (GRCm39)	S264L	probably benign	Het
Or8b50	A	C	9: 38,518,441 (GRCm39)	K227Q	probably benign	Het
Pdzd2	C	T	15: 12,437,252 (GRCm39)	E450K	probably damaging	Het
Phrf1	T	A	7: 140,838,651 (GRCm39)	F615L	unknown	Het
Plch2	C	A	4: 155,083,324 (GRCm39)	G538V	probably damaging	Het
Ppp2r2d	T	A	7: 138,475,897 (GRCm39)	I235N	probably damaging	Het
Prdm15	A	T	16: 97,638,888 (GRCm39)	D57E	probably benign	Het
Psd3	T	C	8: 68,417,003 (GRCm39)	D45G	probably damaging	Het
Ptp4a2	T	A	4: 129,740,299 (GRCm39)	M121K	probably damaging	Het
Ptpre	T	G	7: 135,283,306 (GRCm39)	F659V	possibly damaging	Het
Rad54l2	T	G	9: 106,596,809 (GRCm39)	D199A	probably benign	Het
Rap1gds1	T	C	3: 138,647,521 (GRCm39)	M556V	probably benign	Het
Scaf8	T	C	17: 3,243,349 (GRCm39)	V711A	probably benign	Het
Sesn3	G	A	9: 14,225,964 (GRCm39)	C233Y	probably damaging	Het
Slc45a1	T	A	4: 150,714,206 (GRCm39)	I680F	probably damaging	Het
Slco1a6	C	T	6: 142,078,897 (GRCm39)	V133M	probably benign	Het
Syt6	T	C	3: 103,492,850 (GRCm39)	L119P	probably benign	Het
Szt2	A	C	4: 118,226,613 (GRCm39)	S2974R	unknown	Het
Taok1	A	T	11: 77,444,712 (GRCm39)	H454Q	probably damaging	Het
Tbx10	G	A	19: 4,047,303 (GRCm39)	V136M	probably damaging	Het
Tespa1	A	G	10: 130,198,027 (GRCm39)	T350A	probably benign	Het
Tnks1bp1	T	A	2: 84,900,980 (GRCm39)	Y1562*	probably null	Het
Trank1	T	A	9: 111,218,344 (GRCm39)	F1908Y	probably benign	Het
Trav6d-4	A	T	14: 52,991,243 (GRCm39)	H96L	possibly damaging	Het
Tspoap1	T	C	11: 87,669,197 (GRCm39)	I1490T	probably benign	Het
Ttc21a	T	C	9: 119,770,286 (GRCm39)	F119S	probably damaging	Het
Ttll3	T	G	6: 113,385,949 (GRCm39)	M594R	probably damaging	Het
Ttn	T	A	2: 76,798,790 (GRCm39)	R495*	probably null	Het
Twf1	A	C	15: 94,479,110 (GRCm39)	L250V	probably damaging	Het
Ubr4	A	T	4: 139,149,076 (GRCm39)	E458D		Het
Unc50	T	C	1: 37,476,244 (GRCm39)	F135L	probably benign	Het
Vwa3a	T	A	7: 120,375,299 (GRCm39)	I371N	probably damaging	Het
Zfp180	T	C	7: 23,805,161 (GRCm39)	S527P	probably damaging	Het
Zfp512	T	A	5: 31,630,882 (GRCm39)	I408N	probably damaging	Het
Zfp57	A	G	17: 37,317,077 (GRCm39)	T52A	probably benign	Het
Zranb2	A	G	3: 157,247,327 (GRCm39)		probably benign	Het

Other mutations in Ptger4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Ptger4	APN	15	5,272,614 (GRCm39)	missense	probably benign	0.00
IGL00848:Ptger4	APN	15	5,264,589 (GRCm39)	missense	probably benign	0.16
IGL01309:Ptger4	APN	15	5,272,239 (GRCm39)	missense	probably damaging	1.00
IGL02083:Ptger4	APN	15	5,272,655 (GRCm39)	missense	probably benign	0.00
IGL03245:Ptger4	APN	15	5,264,588 (GRCm39)	missense	probably damaging	1.00
R0369:Ptger4	UTSW	15	5,272,491 (GRCm39)	missense	probably benign	0.06
R0427:Ptger4	UTSW	15	5,272,382 (GRCm39)	missense	probably benign	0.25
R1399:Ptger4	UTSW	15	5,264,412 (GRCm39)	missense	possibly damaging	0.81
R1778:Ptger4	UTSW	15	5,264,576 (GRCm39)	missense	probably damaging	1.00
R1801:Ptger4	UTSW	15	5,272,281 (GRCm39)	missense	possibly damaging	0.95
R2089:Ptger4	UTSW	15	5,272,326 (GRCm39)	missense	possibly damaging	0.80
R2091:Ptger4	UTSW	15	5,272,326 (GRCm39)	missense	possibly damaging	0.80
R2091:Ptger4	UTSW	15	5,272,326 (GRCm39)	missense	possibly damaging	0.80
R2484:Ptger4	UTSW	15	5,264,654 (GRCm39)	missense	probably benign	0.06
R2873:Ptger4	UTSW	15	5,264,286 (GRCm39)	missense	probably benign	0.02
R4515:Ptger4	UTSW	15	5,271,860 (GRCm39)	missense	probably damaging	1.00
R4572:Ptger4	UTSW	15	5,272,614 (GRCm39)	missense	probably benign	0.00
R4655:Ptger4	UTSW	15	5,272,545 (GRCm39)	missense	probably benign	0.06
R4860:Ptger4	UTSW	15	5,272,087 (GRCm39)	missense	probably benign	0.02
R4860:Ptger4	UTSW	15	5,272,087 (GRCm39)	missense	probably benign	0.02
R6429:Ptger4	UTSW	15	5,272,478 (GRCm39)	missense	possibly damaging	0.76
R6960:Ptger4	UTSW	15	5,264,196 (GRCm39)	missense	probably benign
R7992:Ptger4	UTSW	15	5,264,381 (GRCm39)	missense	probably damaging	0.99
R8471:Ptger4	UTSW	15	5,271,800 (GRCm39)	missense	probably damaging	1.00
R9245:Ptger4	UTSW	15	5,273,193 (GRCm39)	start gained	probably benign
R9638:Ptger4	UTSW	15	5,264,693 (GRCm39)	missense	probably damaging	1.00
R9790:Ptger4	UTSW	15	5,273,178 (GRCm39)	start codon destroyed	probably null	0.00
R9791:Ptger4	UTSW	15	5,273,178 (GRCm39)	start codon destroyed	probably null	0.00

Predicted Primers

PCR Primer
(F):5'- ATGACCATCTGGATCTCCGC -3'
(R):5'- TCTGTCGGGTCTCAGCATCATC -3'

Sequencing Primer
(F):5'- ATGCGCCGGAAACTCCTG -3'
(R):5'- AGCATCATCTGTGCCATGAG -3'

Posted On

2021-03-08