Mutagenetix > Incidental Mutation

Incidental Mutation 'R7992:Ptger4'

651833

Institutional Source

Beutler Lab

Gene Symbol

Ptger4

Ensembl Gene

ENSMUSG00000039942

Gene Name

prostaglandin E receptor 4 (subtype EP4)

Synonyms

Ptgerep4, EP4

MMRRC Submission

046033-MU

Accession Numbers

Essential gene?

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

Stock #

R7992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5262880-5273668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5264381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 425 (Y425C)

Ref Sequence

ENSEMBL: ENSMUSP00000048736 (fasta)

Gene Model

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

AlphaFold

P32240

Predicted Effect

probably damaging
Transcript: ENSMUST00000047379
AA Change: Y425C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048736
Gene: ENSMUSG00000039942
AA Change: Y425C

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: Y400C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112858
Gene: ENSMUSG00000039942
AA Change: Y400C

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: 99.5%
20x: 98.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,310,904 (GRCm39)	T1054A	probably benign	Het
Ankfn1	A	C	11: 89,413,859 (GRCm39)	I172S	probably benign	Het
Ano3	T	C	2: 110,605,367 (GRCm39)	T280A	possibly damaging	Het
Arhgef37	T	A	18: 61,638,827 (GRCm39)	E307D	probably benign	Het
Bptf	C	T	11: 107,001,709 (GRCm39)	V468I	probably benign	Het
Ces1b	A	G	8: 93,786,987 (GRCm39)	V464A	probably benign	Het
Cmc2	A	T	8: 117,616,446 (GRCm39)	L93*	probably null	Het
Ddx60	A	G	8: 62,407,569 (GRCm39)	D360G	probably benign	Het
Dock6	C	T	9: 21,744,135 (GRCm39)		probably null	Het
Erp44	A	G	4: 48,218,136 (GRCm39)	F178L	possibly damaging	Het
Fam47e	T	C	5: 92,722,541 (GRCm39)	V79A	probably damaging	Het
Fancd2	T	C	6: 113,542,165 (GRCm39)	S770P	probably damaging	Het
Fcgr1	A	G	3: 96,191,897 (GRCm39)	F304L	probably benign	Het
Fkbp15	T	C	4: 62,230,538 (GRCm39)	E725G	probably damaging	Het
Fn1	T	C	1: 71,638,825 (GRCm39)	I1971V	probably benign	Het
Gdf6	A	G	4: 9,844,652 (GRCm39)	S59G	probably benign	Het
Gm5773	T	A	3: 93,680,373 (GRCm39)	I15N	possibly damaging	Het
Hesx1	T	C	14: 26,723,379 (GRCm39)	S70P	probably benign	Het
Htr5a	T	C	5: 28,055,995 (GRCm39)	S329P	probably damaging	Het
Htt	T	C	5: 34,987,225 (GRCm39)		probably null	Het
Iba57	T	A	11: 59,052,288 (GRCm39)	M118L	unknown	Het
Ifi35	C	T	11: 101,348,307 (GRCm39)	Q112*	probably null	Het
Il12rb1	G	T	8: 71,265,233 (GRCm39)	R183L	possibly damaging	Het
Il12rb2	A	T	6: 67,328,311 (GRCm39)	Y306*	probably null	Het
Ints1	C	G	5: 139,742,282 (GRCm39)	D1722H	probably damaging	Het
Ipp	T	G	4: 116,381,453 (GRCm39)	D317E	probably damaging	Het
Kif26a	A	G	12: 112,142,481 (GRCm39)	T912A	probably benign	Het
Klhdc7a	A	G	4: 139,693,045 (GRCm39)	V634A	probably damaging	Het
Klhl40	C	A	9: 121,607,748 (GRCm39)	P303T	probably damaging	Het
Krt13	T	C	11: 100,008,478 (GRCm39)	T420A	unknown	Het
Lpcat2	T	C	8: 93,582,186 (GRCm39)	F35S	probably damaging	Het
Macf1	A	G	4: 123,289,753 (GRCm39)	V5470A	probably damaging	Het
Mta2	T	C	19: 8,925,151 (GRCm39)		probably null	Het
Muc16	G	T	9: 18,567,725 (GRCm39)	T1598K	unknown	Het
Nckap5	A	T	1: 125,954,547 (GRCm39)	N668K	probably damaging	Het
Nlrp4a	A	T	7: 26,150,070 (GRCm39)	D559V	possibly damaging	Het
Npat	T	C	9: 53,474,167 (GRCm39)	L653P	probably benign	Het
Oog1	G	A	12: 87,655,252 (GRCm39)	V467I	possibly damaging	Het
Or4c15b	A	G	2: 89,113,082 (GRCm39)	S132P	probably benign	Het
Or4f56	C	T	2: 111,703,280 (GRCm39)	A307T	probably benign	Het
Pdzph1	T	A	17: 59,186,105 (GRCm39)	M1229L	possibly damaging	Het
Piwil4	T	A	9: 14,614,445 (GRCm39)	Q106L		Het
Plekha5	C	A	6: 140,472,267 (GRCm39)	R65S	probably damaging	Het
Pus7	A	G	5: 23,951,465 (GRCm39)	M534T	possibly damaging	Het
Rtkn2	C	T	10: 67,875,923 (GRCm39)	P411S	probably damaging	Het
Scand1	G	A	2: 156,154,232 (GRCm39)	P13S	unknown	Het
Scaper	T	C	9: 55,765,438 (GRCm39)	H550R	probably benign	Het
Senp5	T	A	16: 31,796,514 (GRCm39)	K617I	probably damaging	Het
Shq1	A	G	6: 100,613,972 (GRCm39)	L282P	probably damaging	Het
Slc12a6	T	A	2: 112,166,256 (GRCm39)	C227S	probably damaging	Het
Slc5a9	T	A	4: 111,747,729 (GRCm39)	T284S	probably benign	Het
Stat2	T	A	10: 128,120,831 (GRCm39)	F579L	probably damaging	Het
Tes	G	T	6: 17,096,242 (GRCm39)	A77S	possibly damaging	Het
Themis	A	T	10: 28,637,342 (GRCm39)	T149S	probably benign	Het
Tmprss6	C	T	15: 78,326,664 (GRCm39)	R653H	probably benign	Het
Trmt6	G	A	2: 132,652,959 (GRCm39)	L107F	probably damaging	Het
Trpm6	T	C	19: 18,792,714 (GRCm39)	C713R	probably damaging	Het
Trpm7	T	C	2: 126,667,454 (GRCm39)	I820V	probably benign	Het
Usp45	G	A	4: 21,824,543 (GRCm39)	A432T	probably benign	Het
Xab2	A	T	8: 3,668,622 (GRCm39)	V82E	possibly damaging	Het
Zfp938	T	A	10: 82,061,777 (GRCm39)	Y281F	possibly 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
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
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'- TTTCCTTTAGAGGCAGGCTCC -3'
(R):5'- TTCGGAAGACTGTGCTCAG -3'

Sequencing Primer
(F):5'- AGGCAGGCTCCTCTCTGTG -3'
(R):5'- CTGTGCTCAGTAAAGCCATAGAG -3'

Posted On

2020-09-15