Mutagenetix > Incidental Mutation

Incidental Mutation 'R7047:Ptgfr'

547361

Institutional Source

Beutler Lab

Gene Symbol

Ptgfr

Ensembl Gene

ENSMUSG00000028036

Gene Name

prostaglandin F receptor

Synonyms

FP, PGF

MMRRC Submission

045145-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151504247-151543165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 151541178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 110 (I110N)

Ref Sequence

ENSEMBL: ENSMUSP00000101732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029670] [ENSMUST00000106126]

AlphaFold

P43117

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029670
AA Change: I110N

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029670
Gene: ENSMUSG00000028036
AA Change: I110N

Domain	Start	End	E-Value	Type
Pfam:7tm_1	23	304	6.8e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106126
AA Change: I110N

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101732
Gene: ENSMUSG00000028036
AA Change: I110N

Domain	Start	End	E-Value	Type
Pfam:7tm_1	43	304	7.6e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

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 member of the G-protein coupled receptor family. This protein is a receptor for prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be involved in modulating intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice suggest that the interaction of PGF2-alpha with this receptor may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Pregnant females homozygous for a targeted null mutation are unable to deliver their offspring due to lack of induction of the oxytocin receptor and fail to show the normal decline of serum progesterone levels preceding parturition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,131 (GRCm39)	I1278N	possibly damaging	Het
Adcy5	T	A	16: 35,087,585 (GRCm39)	L482Q	probably damaging	Het
Adora2a	A	G	10: 75,162,145 (GRCm39)	I95V	probably damaging	Het
Anapc1	A	C	2: 128,457,350 (GRCm39)	C1887G	probably damaging	Het
Arfgef2	T	A	2: 166,693,865 (GRCm39)		probably null	Het
Capn11	G	T	17: 45,949,622 (GRCm39)	S448*	probably null	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Cep55	T	A	19: 38,048,539 (GRCm39)	V65D	possibly damaging	Het
Col5a1	A	G	2: 27,818,096 (GRCm39)	K107R	unknown	Het
Dbh	T	A	2: 27,055,622 (GRCm39)	I32N	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dzip3	A	T	16: 48,802,489 (GRCm39)	N13K	probably benign	Het
Emilin1	A	G	5: 31,074,422 (GRCm39)	N221S	probably benign	Het
Ext2	A	G	2: 93,570,002 (GRCm39)	F470L	probably damaging	Het
Filip1	T	A	9: 79,760,916 (GRCm39)	Q206L	probably damaging	Het
Garin1b	T	A	6: 29,323,809 (GRCm39)	L178H	probably damaging	Het
Gpr63	G	T	4: 25,007,320 (GRCm39)	A15S	probably benign	Het
Grhl3	T	C	4: 135,276,551 (GRCm39)		probably null	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Ift172	G	T	5: 31,433,238 (GRCm39)	Y193*	probably null	Het
Ints1	A	C	5: 139,744,226 (GRCm39)	L1512*	probably null	Het
Kat2b	A	G	17: 53,970,597 (GRCm39)	Q661R	probably benign	Het
Kat6a	A	G	8: 23,428,554 (GRCm39)	N1303S	possibly damaging	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Maml2	T	C	9: 13,532,177 (GRCm39)		probably benign	Het
Mixl1	A	G	1: 180,524,183 (GRCm39)		probably null	Het
Mocs1	T	C	17: 49,759,887 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,962,236 (GRCm39)	N36T	probably damaging	Het
Msr1	G	A	8: 40,095,657 (GRCm39)	T2I	possibly damaging	Het
Nlgn1	A	C	3: 25,490,199 (GRCm39)	Y509*	probably null	Het
Nsmce1	C	A	7: 125,090,606 (GRCm39)	G4C	probably benign	Het
Or4c113	A	T	2: 88,885,490 (GRCm39)	F93L	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,918 (GRCm39)	V83A	probably damaging	Het
Pan3	G	A	5: 147,483,175 (GRCm39)	G452D	probably damaging	Het
Pcyox1	G	T	6: 86,365,891 (GRCm39)	P441H	probably damaging	Het
Phf12	T	C	11: 77,904,099 (GRCm39)	V273A	probably damaging	Het
Plcd4	A	G	1: 74,591,148 (GRCm39)	E181G	possibly damaging	Het
Rab40c	A	C	17: 26,138,458 (GRCm39)	V8G	probably damaging	Het
Rasal3	T	A	17: 32,615,458 (GRCm39)	Y460F	probably damaging	Het
Rhbdf2	A	G	11: 116,494,477 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,839,286 (GRCm39)	N496Y	possibly damaging	Het
Sacs	A	T	14: 61,450,451 (GRCm39)	I4166F	probably damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Smarca2	C	T	19: 26,646,555 (GRCm39)	S651L	possibly damaging	Het
Sned1	A	T	1: 93,213,540 (GRCm39)	R1204S	possibly damaging	Het
Spata31d1b	T	C	13: 59,860,249 (GRCm39)	Y41H	probably damaging	Het
Stab2	C	T	10: 86,694,016 (GRCm39)	C2075Y	probably damaging	Het
Tcte1	A	T	17: 45,844,294 (GRCm39)	Q90L	possibly damaging	Het
Tll2	C	T	19: 41,074,679 (GRCm39)	G945S	probably damaging	Het
Tmbim7	A	T	5: 3,720,112 (GRCm39)	T116S	probably benign	Het
Tnfrsf19	A	T	14: 61,242,667 (GRCm39)	C72*	probably null	Het
Usp17le	T	A	7: 104,417,640 (GRCm39)	T501S	probably benign	Het
Wnt5b	T	A	6: 119,425,217 (GRCm39)		probably benign	Het

Other mutations in Ptgfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Ptgfr	APN	3	151,541,323 (GRCm39)	missense	probably benign	0.43
IGL02085:Ptgfr	APN	3	151,541,437 (GRCm39)	missense	probably benign	0.00
IGL02110:Ptgfr	APN	3	151,541,097 (GRCm39)	missense	probably damaging	0.97
IGL02971:Ptgfr	APN	3	151,540,963 (GRCm39)	missense	probably benign	0.00
IGL03263:Ptgfr	APN	3	151,541,500 (GRCm39)	missense	probably benign	0.00
R0048:Ptgfr	UTSW	3	151,540,728 (GRCm39)	missense	possibly damaging	0.51
R0048:Ptgfr	UTSW	3	151,540,728 (GRCm39)	missense	possibly damaging	0.51
R0602:Ptgfr	UTSW	3	151,540,839 (GRCm39)	missense	probably damaging	1.00
R0624:Ptgfr	UTSW	3	151,540,839 (GRCm39)	missense	probably damaging	1.00
R0633:Ptgfr	UTSW	3	151,507,400 (GRCm39)	missense	probably benign	0.00
R1614:Ptgfr	UTSW	3	151,507,416 (GRCm39)	missense	probably benign	0.44
R1930:Ptgfr	UTSW	3	151,540,831 (GRCm39)	missense	probably benign	0.16
R1931:Ptgfr	UTSW	3	151,540,831 (GRCm39)	missense	probably benign	0.16
R1989:Ptgfr	UTSW	3	151,540,976 (GRCm39)	nonsense	probably null
R4596:Ptgfr	UTSW	3	151,507,430 (GRCm39)	missense	probably damaging	1.00
R5899:Ptgfr	UTSW	3	151,540,738 (GRCm39)	missense	probably damaging	0.96
R6295:Ptgfr	UTSW	3	151,540,926 (GRCm39)	missense	probably benign	0.00
R6907:Ptgfr	UTSW	3	151,540,938 (GRCm39)	missense	possibly damaging	0.95
R7320:Ptgfr	UTSW	3	151,541,034 (GRCm39)	missense	probably benign	0.22
R8205:Ptgfr	UTSW	3	151,541,418 (GRCm39)	missense	probably benign	0.04
R8420:Ptgfr	UTSW	3	151,541,053 (GRCm39)	missense	possibly damaging	0.49
R9049:Ptgfr	UTSW	3	151,541,404 (GRCm39)	missense	probably benign	0.24
R9352:Ptgfr	UTSW	3	151,541,160 (GRCm39)	missense	probably damaging	1.00
R9537:Ptgfr	UTSW	3	151,541,445 (GRCm39)	missense	possibly damaging	0.91
Z1176:Ptgfr	UTSW	3	151,541,278 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACGCTTGGATTTGATAATCTCG -3'
(R):5'- GCCATTCTCATGAAGGCCTAC -3'

Sequencing Primer
(F):5'- ATAATCTCGGTGTCCAAGGATG -3'
(R):5'- CTCATGAAGGCCTACCAGAGATTTAG -3'

Posted On

2019-05-13