Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Ptger4'

372452

Institutional Source

Beutler Lab

Gene Symbol

Ptger4

Ensembl Gene

ENSMUSG00000039942

Gene Name

prostaglandin E receptor 4 (subtype EP4)

Synonyms

EP4, Ptgerep4

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5206661-5244187 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5242606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 177 (N177K)

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: N202K

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

SMART Domains

Protein: ENSMUSP00000048736
Gene: ENSMUSG00000039942
AA Change: N202K

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: N177K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112858
Gene: ENSMUSG00000039942
AA Change: N177K

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

0.1079

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

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). 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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,423 (GRCm38)	S466P	possibly damaging	Het
1700061G19Rik	A	G	17: 56,888,655 (GRCm38)	N684S	probably benign	Het
4930435E12Rik	A	G	16: 38,828,145 (GRCm38)	S201P	probably damaging	Het
Ablim1	T	C	19: 57,079,866 (GRCm38)	T267A	probably damaging	Het
Acap2	A	T	16: 31,103,499 (GRCm38)	L724Q	possibly damaging	Het
Adcy4	T	C	14: 55,781,927 (GRCm38)	T89A	possibly damaging	Het
Agrp	T	C	8: 105,567,368 (GRCm38)	E41G	probably benign	Het
Akr1d1	G	A	6: 37,564,491 (GRCm38)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,309,674 (GRCm38)	R54Q	probably benign	Het
Arhgap45	T	A	10: 80,027,066 (GRCm38)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,243,095 (GRCm38)	N137K	probably damaging	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
BC048679	T	C	7: 81,495,720 (GRCm38)	N27D	probably benign	Het
Ccdc78	A	G	17: 25,788,700 (GRCm38)	N237S	probably benign	Het
Cd46	G	A	1: 195,062,396 (GRCm38)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm38)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,167 (GRCm38)	E731G	probably damaging	Het
Ctsh	A	G	9: 90,054,548 (GRCm38)	E26G	probably benign	Het
Cul1	G	T	6: 47,517,146 (GRCm38)	K464N	probably benign	Het
Cul1	T	A	6: 47,517,191 (GRCm38)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,340,232 (GRCm38)	D373E	probably benign	Het
Ddx58	G	T	4: 40,210,000 (GRCm38)	S644R	probably damaging	Het
Dhcr7	A	G	7: 143,840,500 (GRCm38)	Q126R	probably benign	Het
Dok2	T	C	14: 70,777,516 (GRCm38)	F228L	probably damaging	Het
Dpep3	T	G	8: 105,976,189 (GRCm38)	I314L	probably benign	Het
Eps8	A	G	6: 137,514,295 (GRCm38)	F362L	probably damaging	Het
Espn	G	T	4: 152,138,846 (GRCm38)	R250S	probably damaging	Het
Faf1	A	C	4: 109,742,896 (GRCm38)	N163H	probably damaging	Het
Fam198b	C	A	3: 79,936,674 (GRCm38)	S36*	probably null	Het
Fam71e2	C	T	7: 4,757,469 (GRCm38)		probably null	Het
Fcho1	C	T	8: 71,710,481 (GRCm38)	V635I	probably benign	Het
Gm7579	G	A	7: 142,211,908 (GRCm38)	C17Y	unknown	Het
Gm996	T	C	2: 25,578,753 (GRCm38)	Y382C	probably damaging	Het
Gpx8	G	T	13: 113,045,508 (GRCm38)	Y130*	probably null	Het
Gvin1	A	T	7: 106,163,436 (GRCm38)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,305,818 (GRCm38)	M30K	probably benign	Het
Iqub	T	C	6: 24,450,842 (GRCm38)	D586G	probably damaging	Het
Klhl25	T	C	7: 75,867,050 (GRCm38)	I568T	probably benign	Het
Larp6	A	G	9: 60,737,810 (GRCm38)	E411G	probably damaging	Het
Lepr	A	C	4: 101,789,337 (GRCm38)	I822L	probably benign	Het
Lrig3	C	A	10: 126,011,052 (GRCm38)	D896E	probably benign	Het
Lrp1	C	T	10: 127,553,824 (GRCm38)	G3114D	probably damaging	Het
Macf1	A	T	4: 123,486,750 (GRCm38)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 102,990,619 (GRCm38)	D180G	probably damaging	Het
Matr3	T	A	18: 35,581,640 (GRCm38)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,848,926 (GRCm38)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,082,280 (GRCm38)	R238W	probably benign	Het
Mcrip2	G	T	17: 25,864,647 (GRCm38)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,611,592 (GRCm38)	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616 (GRCm38)	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625 (GRCm38)	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,635,194 (GRCm38)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,196,547 (GRCm38)	Y205F	probably damaging	Het
Nubp2	A	G	17: 24,884,456 (GRCm38)	M149T	probably benign	Het
Olfr1062	T	C	2: 86,422,957 (GRCm38)	T240A	probably damaging	Het
Olfr462	T	A	11: 87,889,225 (GRCm38)	M224L	probably damaging	Het
Olfr974	G	T	9: 39,942,504 (GRCm38)	M81I	probably benign	Het
Pax3	A	G	1: 78,192,456 (GRCm38)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,643,710 (GRCm38)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 116,340,156 (GRCm38)	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,537,378 (GRCm38)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,988,993 (GRCm38)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,990,514 (GRCm38)	T91A	probably benign	Het
Reln	A	G	5: 21,901,751 (GRCm38)	F3207S	probably benign	Het
Ripk4	C	T	16: 97,751,536 (GRCm38)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,452,744 (GRCm38)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 158,074,935 (GRCm38)	Y278*	probably null	Het
Sel1l	A	G	12: 91,831,602 (GRCm38)	L140P	probably damaging	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,655,064 (GRCm38)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,751,883 (GRCm38)	T131A	probably damaging	Het
Slmap	A	T	14: 26,460,209 (GRCm38)	V323E	probably benign	Het
Smim6	T	C	11: 115,913,504 (GRCm38)	V39A	probably benign	Het
Sorbs1	T	C	19: 40,337,005 (GRCm38)	T382A	probably benign	Het
Sparc	G	A	11: 55,399,211 (GRCm38)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,736,589 (GRCm38)	F283I	probably damaging	Het
Stil	A	G	4: 115,038,474 (GRCm38)	T586A	probably benign	Het
Tbce	T	A	13: 14,019,795 (GRCm38)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,858,840 (GRCm38)	G504S	probably null	Het
Tle4	A	T	19: 14,464,345 (GRCm38)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm38)	F254S	probably damaging	Het
Tmem251	A	T	12: 102,744,055 (GRCm38)		probably benign	Het
Tubgcp3	T	C	8: 12,649,722 (GRCm38)	K377R	probably benign	Het
Ush2a	A	T	1: 188,553,275 (GRCm38)	T2003S	probably benign	Het
Usp53	A	G	3: 122,961,363 (GRCm38)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 12,152,756 (GRCm38)	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,401,803 (GRCm38)	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,275,601 (GRCm38)	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,385,843 (GRCm38)	D836V	probably damaging	Het
Vps13d	A	G	4: 145,087,161 (GRCm38)	F165L	probably benign	Het
Vstm4	A	G	14: 32,863,785 (GRCm38)	E103G	possibly damaging	Het
Zfp870	A	T	17: 32,883,340 (GRCm38)	C339*	probably null	Het

Other mutations in Ptger4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Ptger4	APN	15	5,243,133 (GRCm38)	missense	probably benign	0.00
IGL00848:Ptger4	APN	15	5,235,108 (GRCm38)	missense	probably benign	0.16
IGL01309:Ptger4	APN	15	5,242,758 (GRCm38)	missense	probably damaging	1.00
IGL02083:Ptger4	APN	15	5,243,174 (GRCm38)	missense	probably benign	0.00
IGL03245:Ptger4	APN	15	5,235,107 (GRCm38)	missense	probably damaging	1.00
R0369:Ptger4	UTSW	15	5,243,010 (GRCm38)	missense	probably benign	0.06
R0427:Ptger4	UTSW	15	5,242,901 (GRCm38)	missense	probably benign	0.25
R1399:Ptger4	UTSW	15	5,234,931 (GRCm38)	missense	possibly damaging	0.81
R1778:Ptger4	UTSW	15	5,235,095 (GRCm38)	missense	probably damaging	1.00
R1801:Ptger4	UTSW	15	5,242,800 (GRCm38)	missense	possibly damaging	0.95
R2089:Ptger4	UTSW	15	5,242,845 (GRCm38)	missense	possibly damaging	0.80
R2091:Ptger4	UTSW	15	5,242,845 (GRCm38)	missense	possibly damaging	0.80
R2091:Ptger4	UTSW	15	5,242,845 (GRCm38)	missense	possibly damaging	0.80
R2484:Ptger4	UTSW	15	5,235,173 (GRCm38)	missense	probably benign	0.06
R2873:Ptger4	UTSW	15	5,234,805 (GRCm38)	missense	probably benign	0.02
R4515:Ptger4	UTSW	15	5,242,379 (GRCm38)	missense	probably damaging	1.00
R4572:Ptger4	UTSW	15	5,243,133 (GRCm38)	missense	probably benign	0.00
R4655:Ptger4	UTSW	15	5,243,064 (GRCm38)	missense	probably benign	0.06
R4860:Ptger4	UTSW	15	5,242,606 (GRCm38)	missense	probably benign	0.02
R6429:Ptger4	UTSW	15	5,242,997 (GRCm38)	missense	possibly damaging	0.76
R6960:Ptger4	UTSW	15	5,234,715 (GRCm38)	missense	probably benign
R7992:Ptger4	UTSW	15	5,234,900 (GRCm38)	missense	probably damaging	0.99
R8471:Ptger4	UTSW	15	5,242,319 (GRCm38)	missense	probably damaging	1.00
R8768:Ptger4	UTSW	15	5,242,657 (GRCm38)	missense	probably benign	0.00
R9245:Ptger4	UTSW	15	5,243,712 (GRCm38)	start gained	probably benign
R9638:Ptger4	UTSW	15	5,235,212 (GRCm38)	missense	probably damaging	1.00
R9790:Ptger4	UTSW	15	5,243,697 (GRCm38)	start codon destroyed	probably null	0.00
R9791:Ptger4	UTSW	15	5,243,697 (GRCm38)	start codon destroyed	probably null	0.00

Predicted Primers

PCR Primer
(F):5'- GATGACCATCTGGATCTCCG -3'
(R):5'- AGCATCATCTGTGCCATGAGC -3'

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

Posted On

2016-03-01