Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Ptger4'

332879

Institutional Source

Beutler Lab

Gene Symbol

Ptger4

Ensembl Gene

ENSMUSG00000039942

Gene Name

prostaglandin E receptor 4 (subtype EP4)

Synonyms

Ptgerep4, EP4

MMRRC Submission

041589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R4515 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

5262880-5273668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5271860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 253 (R253L)

Ref Sequence

ENSEMBL: ENSMUSP00000112858 (fasta)

Gene Model

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

AlphaFold

P32240

Predicted Effect

probably damaging
Transcript: ENSMUST00000047379
AA Change: R278L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048736
Gene: ENSMUSG00000039942
AA Change: R278L

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 damaging
Transcript: ENSMUST00000120563
AA Change: R253L

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

SMART Domains

Protein: ENSMUSP00000112858
Gene: ENSMUSG00000039942
AA Change: R253L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133966

Meta Mutation Damage Score

0.1707

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,646,006 (GRCm39)	K630N	probably damaging	Het
Acss2	C	A	2: 155,398,283 (GRCm39)	L335I	probably benign	Het
Alg6	A	T	4: 99,641,023 (GRCm39)		probably benign	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Bsn	G	T	9: 107,981,277 (GRCm39)		probably null	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,870,150 (GRCm39)	E52K	probably benign	Het
Ces1a	T	A	8: 93,747,532 (GRCm39)	N500Y	probably damaging	Het
Chd3	G	T	11: 69,240,703 (GRCm39)	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,875,118 (GRCm39)	L39P	probably damaging	Het
Ckm	A	G	7: 19,154,209 (GRCm39)	K319E	probably damaging	Het
Cnot6	C	T	11: 49,593,363 (GRCm39)		probably null	Het
Copg1	A	G	6: 87,884,528 (GRCm39)		probably benign	Het
Dbn1	A	T	13: 55,624,042 (GRCm39)	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,356,457 (GRCm39)	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,734,444 (GRCm39)	D807E	probably benign	Het
Foxi1	A	G	11: 34,157,972 (GRCm39)	F18L	probably damaging	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Glod4	T	A	11: 76,134,397 (GRCm39)	D25V	probably damaging	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,678,722 (GRCm39)		probably null	Het
Hemgn	T	C	4: 46,396,477 (GRCm39)	E253G	probably damaging	Het
Itsn1	G	A	16: 91,696,537 (GRCm39)	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257 (GRCm39)	V947A	probably benign	Het
Kif9	A	G	9: 110,318,935 (GRCm39)	H133R	probably benign	Het
Lce1l	T	C	3: 92,757,781 (GRCm39)	T26A	unknown	Het
Macf1	T	C	4: 123,387,781 (GRCm39)	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,921,281 (GRCm39)	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,454,187 (GRCm39)	T49I	probably benign	Het
Oc90	A	G	15: 65,764,242 (GRCm39)	L138P	probably damaging	Het
Or7g12	T	G	9: 18,899,278 (GRCm39)		probably null	Het
Or8g34	C	T	9: 39,373,527 (GRCm39)	R264*	probably null	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Paqr3	T	A	5: 97,251,220 (GRCm39)	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,224,432 (GRCm39)	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,006,207 (GRCm39)	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,549,924 (GRCm39)	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,309,988 (GRCm39)	S109G	probably damaging	Het
Prkch	A	G	12: 73,749,612 (GRCm39)	T402A	possibly damaging	Het
Rabac1	A	T	7: 24,669,585 (GRCm39)	Y173*	probably null	Het
Rapsn	G	A	2: 90,873,557 (GRCm39)	V288M	possibly damaging	Het
Rnf26rt	C	T	6: 76,473,792 (GRCm39)	V275I	probably benign	Het
Sec31a	A	G	5: 100,513,817 (GRCm39)	S993P	probably damaging	Het
Septin4	A	G	11: 87,458,883 (GRCm39)	H419R	probably benign	Het
Serpina9	T	A	12: 103,967,553 (GRCm39)	M281L	probably benign	Het
Serpine1	G	A	5: 137,098,322 (GRCm39)	A117V	probably damaging	Het
Sh3tc2	A	G	18: 62,120,764 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,218,965 (GRCm39)	D124G	probably benign	Het
Slc6a12	T	A	6: 121,330,489 (GRCm39)		probably null	Het
Stk11	A	G	10: 79,952,435 (GRCm39)		probably benign	Het
Tcaf3	A	G	6: 42,566,930 (GRCm39)	Y720H	probably damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,568,055 (GRCm39)	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,754,244 (GRCm39)	S988N	probably benign	Het
Txn2	A	T	15: 77,799,643 (GRCm39)		probably null	Het
Ugt1a10	T	A	1: 87,983,919 (GRCm39)	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,901,475 (GRCm39)	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,603,466 (GRCm39)	D548V	probably damaging	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
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
R8768:Ptger4	UTSW	15	5,272,138 (GRCm39)	missense	probably benign	0.00
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'- TGGAGAAAACTCTGCCCACC -3'
(R):5'- TTACATGTACGCCGGCTTCAG -3'

Sequencing Primer
(F):5'- CCCCCAAAGGAATCAGGGAAAAG -3'
(R):5'- GCCGGCTTCAGCTCCTTC -3'

Posted On

2015-08-18