Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:Ptger4'

342222

Institutional Source

Beutler Lab

Gene Symbol

Ptger4

Ensembl Gene

ENSMUSG00000039942

Gene Name

prostaglandin E receptor 4 (subtype EP4)

Synonyms

Ptgerep4, EP4

MMRRC Submission

041796-MU

Accession Numbers

Essential gene?

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

Stock #

R4572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5262880-5273668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 5272614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 2 (S2A)

Ref Sequence

ENSEMBL: ENSMUSP00000112858 (fasta)

Gene Model

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

AlphaFold

P32240

Predicted Effect

probably benign
Transcript: ENSMUST00000047379
AA Change: S27A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048736
Gene: ENSMUSG00000039942
AA Change: S27A

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: S2A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112858
Gene: ENSMUSG00000039942
AA Change: S2A

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

0.0713

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,107,374 (GRCm39)	I747N	probably benign	Het
Adamtsl2	A	G	2: 26,973,268 (GRCm39)	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,212,007 (GRCm39)		probably benign	Het
Alpk2	A	T	18: 65,414,075 (GRCm39)	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,639,340 (GRCm39)		probably null	Het
Apobec1	T	C	6: 122,558,356 (GRCm39)	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,283,366 (GRCm39)	I181N	probably damaging	Het
Cilp2	A	G	8: 70,335,060 (GRCm39)	V646A	probably damaging	Het
Clasrp	A	G	7: 19,318,389 (GRCm39)		probably null	Het
Cnot2	T	C	10: 116,330,751 (GRCm39)	T423A	probably benign	Het
Crtap	T	C	9: 114,213,874 (GRCm39)	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,658,990 (GRCm39)	F217S	probably damaging	Het
Ddx60	A	G	8: 62,440,455 (GRCm39)	M1036V	probably damaging	Het
Dnah11	A	T	12: 117,973,860 (GRCm39)	I2818N	probably benign	Het
Dok6	T	A	18: 89,492,071 (GRCm39)	I169F	possibly damaging	Het
Duox2	T	A	2: 122,112,207 (GRCm39)	R1326S	probably benign	Het
Epha10	A	G	4: 124,796,361 (GRCm39)	T357A	unknown	Het
Ephb2	A	C	4: 136,383,251 (GRCm39)	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,634 (GRCm39)		probably null	Het
Gabrb2	A	G	11: 42,484,744 (GRCm39)	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,282,001 (GRCm39)	Y452F	probably benign	Het
Gen1	A	G	12: 11,292,419 (GRCm39)	S457P	probably damaging	Het
Gm1993	C	T	X: 25,515,656 (GRCm39)	R77H	probably damaging	Het
Gm5592	G	A	7: 40,865,583 (GRCm39)		probably benign	Het
Hmbox1	A	G	14: 65,140,682 (GRCm39)		probably null	Het
Hus1	A	T	11: 8,957,617 (GRCm39)		probably null	Het
Ino80	G	A	2: 119,232,839 (GRCm39)	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,212,412 (GRCm39)	F27L	probably damaging	Het
Kri1	A	T	9: 21,191,680 (GRCm39)	F187L	probably damaging	Het
Lekr1	A	T	3: 65,691,336 (GRCm39)		noncoding transcript	Het
Mapk15	T	C	15: 75,870,599 (GRCm39)		probably benign	Het
Mrgpre	G	A	7: 143,334,841 (GRCm39)	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399 (GRCm39)	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Mup15	A	G	4: 61,356,454 (GRCm39)		probably null	Het
Ncapd3	A	G	9: 27,005,911 (GRCm39)	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 19,760,606 (GRCm39)		probably null	Het
Npy6r	A	T	18: 44,408,984 (GRCm39)	Y135F	probably benign	Het
Or7e170	A	C	9: 19,795,275 (GRCm39)	C109G	probably benign	Het
Phf14	G	A	6: 12,006,823 (GRCm39)	R825Q	probably damaging	Het
Pigg	A	G	5: 108,480,751 (GRCm39)	M379V	probably benign	Het
Plppr3	T	A	10: 79,701,897 (GRCm39)	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,932,717 (GRCm39)	C1921F	probably damaging	Het
Qrfprl	A	T	6: 65,431,975 (GRCm39)	M293L	probably benign	Het
Rab4a	A	T	8: 124,560,799 (GRCm39)	D196V	probably benign	Het
Rbck1	G	A	2: 152,160,653 (GRCm39)	Q428*	probably null	Het
Rgs14	A	T	13: 55,527,875 (GRCm39)	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,864,967 (GRCm39)		probably benign	Het
Sesn3	G	A	9: 14,232,516 (GRCm39)	R263H	probably benign	Het
Slfn1	A	T	11: 83,012,289 (GRCm39)	D135V	probably benign	Het
Spata17	T	C	1: 186,926,193 (GRCm39)	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,425,760 (GRCm39)	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,713,888 (GRCm39)	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,738,649 (GRCm39)	D179G	probably damaging	Het
Tll1	A	G	8: 64,509,343 (GRCm39)	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,224,461 (GRCm39)		probably null	Het
Trappc9	G	T	15: 72,808,916 (GRCm39)	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,060,395 (GRCm39)	C460*	probably null	Het
Trim35	T	C	14: 66,545,322 (GRCm39)	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,479 (GRCm39)	H209Q	probably benign	Het
Ulk4	T	C	9: 121,021,830 (GRCm39)	K627R	probably damaging	Het
Wnk1	T	C	6: 119,928,872 (GRCm39)	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,622,981 (GRCm39)	R141C	probably damaging	Het
Zfp735	A	G	11: 73,580,611 (GRCm39)	M37V	probably benign	Het
Zmym1	A	T	4: 126,944,628 (GRCm39)	N186K	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
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'- AGCCCACATACTAGAGTGTAAAAGG -3'
(R):5'- ACAGAACGGATCCAGACCTTG -3'

Sequencing Primer
(F):5'- ACTAGAGTGTAAAAGGTCGTCTC -3'
(R):5'- GTCACAGTTAATGAGTAGCTACCG -3'

Posted On

2015-09-24