Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01309:Ptger4'

73586

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptger4

Ensembl Gene

ENSMUSG00000039942

Gene Name

prostaglandin E receptor 4 (subtype EP4)

Synonyms

Ptgerep4, EP4

Accession Numbers

Essential gene?

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

Stock #

IGL01309

Quality Score

Status

Chromosome

Chromosomal Location

5262880-5273668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5272239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 127 (Y127N)

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: Y152N

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

SMART Domains

Protein: ENSMUSP00000048736
Gene: ENSMUSG00000039942
AA Change: Y152N

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: Y127N

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

SMART Domains

Protein: ENSMUSP00000112858
Gene: ENSMUSG00000039942
AA Change: Y127N

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

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 16,931,410 (GRCm39)	V275A	possibly damaging	Het
Adamts2	A	G	11: 50,694,528 (GRCm39)	D1105G	probably benign	Het
Adgrb3	T	A	1: 25,151,352 (GRCm39)	M195L	possibly damaging	Het
Adrm1	A	G	2: 179,817,756 (GRCm39)		probably benign	Het
Atg13	T	A	2: 91,509,176 (GRCm39)	I457F	possibly damaging	Het
BC034090	T	C	1: 155,102,130 (GRCm39)	N45D	probably damaging	Het
C3	C	T	17: 57,516,652 (GRCm39)		probably benign	Het
Cacna1a	G	A	8: 85,249,657 (GRCm39)	G221D	probably damaging	Het
Calr	A	G	8: 85,573,335 (GRCm39)		probably null	Het
Chd3	C	T	11: 69,248,557 (GRCm39)	V825I	probably damaging	Het
Chdh	T	G	14: 29,757,761 (GRCm39)		probably benign	Het
Ckap5	T	C	2: 91,400,529 (GRCm39)	V627A	probably damaging	Het
Commd3	A	G	2: 18,677,289 (GRCm39)	E5G	probably benign	Het
Ddi1	T	C	9: 6,265,773 (GRCm39)	R199G	probably damaging	Het
Dennd4c	A	G	4: 86,723,724 (GRCm39)		probably benign	Het
Dok7	G	A	5: 35,236,912 (GRCm39)	G293D	possibly damaging	Het
Epm2aip1	T	C	9: 111,102,596 (GRCm39)	V523A	probably benign	Het
Fam171b	C	T	2: 83,709,791 (GRCm39)	Q488*	probably null	Het
Gabbr1	G	A	17: 37,359,499 (GRCm39)		probably null	Het
Gm5965	T	G	16: 88,575,219 (GRCm39)	S131A	possibly damaging	Het
Gpcpd1	T	C	2: 132,392,244 (GRCm39)	D235G	probably damaging	Het
Grip1	A	T	10: 119,767,207 (GRCm39)	K111*	probably null	Het
Itih4	G	T	14: 30,613,706 (GRCm39)	D308Y	probably damaging	Het
Kcnj6	A	G	16: 94,633,314 (GRCm39)	Y266H	probably damaging	Het
Lrrc41	T	C	4: 115,953,663 (GRCm39)	L783P	probably damaging	Het
Map4k5	T	C	12: 69,888,737 (GRCm39)	D298G	probably benign	Het
Mapkbp1	T	C	2: 119,849,423 (GRCm39)	F712L	probably damaging	Het
Mcoln2	T	C	3: 145,869,282 (GRCm39)		probably benign	Het
Megf11	T	A	9: 64,588,698 (GRCm39)	S532R	probably benign	Het
Mkx	T	C	18: 6,937,192 (GRCm39)	D284G	probably benign	Het
Mmp16	A	G	4: 18,116,185 (GRCm39)	I596M	probably damaging	Het
Msto1	C	A	3: 88,820,993 (GRCm39)	R34L	probably benign	Het
Mtmr9	A	G	14: 63,764,254 (GRCm39)	L491P	probably damaging	Het
Or4a66	T	G	2: 88,531,310 (GRCm39)	Y121S	probably damaging	Het
Or8b52	T	A	9: 38,576,289 (GRCm39)	I284L	probably benign	Het
Or9s13	T	C	1: 92,548,057 (GRCm39)	M143T	probably damaging	Het
Otor	T	C	2: 142,920,532 (GRCm39)	V38A	possibly damaging	Het
Pcdhb12	G	T	18: 37,569,207 (GRCm39)	D118Y	probably damaging	Het
Prelp	T	C	1: 133,842,545 (GRCm39)	H200R	probably benign	Het
Prmt5	T	C	14: 54,747,334 (GRCm39)	Y481C	probably damaging	Het
Psg23	T	G	7: 18,348,465 (GRCm39)	D114A	probably damaging	Het
Rabgap1l	C	A	1: 160,528,368 (GRCm39)	V385L	probably benign	Het
Rergl	T	A	6: 139,470,256 (GRCm39)	K191*	probably null	Het
Sart3	A	G	5: 113,897,311 (GRCm39)	F252S	probably damaging	Het
Sbno1	A	T	5: 124,519,769 (GRCm39)	S1169T	probably benign	Het
Serpinb8	C	T	1: 107,532,448 (GRCm39)	T180M	probably damaging	Het
Sipa1l1	G	A	12: 82,434,470 (GRCm39)	E747K	probably benign	Het
Sptb	T	A	12: 76,634,237 (GRCm39)	D2158V	probably benign	Het
Sycp2	T	G	2: 177,999,904 (GRCm39)	D1024A	probably benign	Het
Tbr1	T	G	2: 61,636,411 (GRCm39)	N262K	possibly damaging	Het
Tnrc6a	A	T	7: 122,770,717 (GRCm39)	I836F	probably benign	Het
Ttn	T	C	2: 76,769,091 (GRCm39)	E2823G	probably damaging	Het
Uqcrc1	T	A	9: 108,778,026 (GRCm39)	L441Q	possibly damaging	Het
Vmn1r180	T	C	7: 23,652,424 (GRCm39)	F196L	probably damaging	Het
Vmn2r111	T	C	17: 22,787,997 (GRCm39)	I451M	possibly damaging	Het
Zcchc7	A	T	4: 44,926,060 (GRCm39)	H353L	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
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
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

Posted On

2013-10-07