Incidental Mutation 'R0048:Ptgfr'
ID18516
Institutional Source Beutler Lab
Gene Symbol Ptgfr
Ensembl Gene ENSMUSG00000028036
Gene Nameprostaglandin F receptor
SynonymsFP, PGF
MMRRC Submission 038342-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #R0048 (G1)
Quality Score
Status Validated
Chromosome3
Chromosomal Location151796502-151837630 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 151835091 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 260 (V260A)
Ref Sequence ENSEMBL: ENSMUSP00000101732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029670] [ENSMUST00000106126]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029670
AA Change: V260A

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029670
Gene: ENSMUSG00000028036
AA Change: V260A

DomainStartEndE-ValueType
Pfam:7tm_1 23 304 6.8e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106126
AA Change: V260A

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101732
Gene: ENSMUSG00000028036
AA Change: V260A

DomainStartEndE-ValueType
Pfam:7tm_1 43 304 7.6e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197392
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.7%
  • 10x: 82.5%
  • 20x: 75.5%
Validation Efficiency 94% (92/98)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,101,482 I299T probably benign Het
Ankrd12 A G 17: 65,984,803 S1212P probably damaging Het
Ankrd50 A G 3: 38,483,049 S52P probably benign Het
Aox1 A G 1: 58,073,212 E715G probably damaging Het
Arid1b T C 17: 5,314,034 probably null Het
Brca1 A G 11: 101,524,977 V777A possibly damaging Het
Btaf1 G T 19: 37,003,524 A1582S probably benign Het
Ccdc184 G A 15: 98,168,460 A49T probably damaging Het
Cd109 A C 9: 78,680,021 Y657S possibly damaging Het
Cfap53 A T 18: 74,299,173 Y44F probably benign Het
Cped1 T A 6: 22,119,602 N353K probably benign Het
Dcaf10 T G 4: 45,374,262 Y562* probably null Het
Eno4 T C 19: 58,964,538 M328T possibly damaging Het
Etv3l T C 3: 87,554,968 noncoding transcript Het
Eya2 T A 2: 165,716,011 Y176N probably damaging Het
Fat2 G T 11: 55,310,039 H736Q probably benign Het
Fgfr2 A T 7: 130,180,488 probably benign Het
Gif G A 19: 11,749,756 V110M possibly damaging Het
Grhl1 A T 12: 24,612,151 probably benign Het
H60b T A 10: 22,287,231 M235K probably benign Het
Hal T A 10: 93,498,991 Y395N probably damaging Het
Hmcn2 T C 2: 31,428,237 S3865P possibly damaging Het
Inpp5j A G 11: 3,501,417 V463A probably damaging Het
Iqgap3 A T 3: 88,115,949 T516S probably benign Het
Itpr2 T C 6: 146,232,291 probably null Het
Jmjd4 C A 11: 59,453,952 H244N probably benign Het
Klkb1 G A 8: 45,289,196 probably benign Het
Loxhd1 A T 18: 77,408,778 Y1578F probably damaging Het
Lrp2 A T 2: 69,465,627 D3379E probably damaging Het
Lrrfip1 C T 1: 91,093,647 probably benign Het
Mblac1 A G 5: 138,194,465 Y23C probably damaging Het
Mfsd12 G A 10: 81,362,814 V380I possibly damaging Het
Mroh9 G A 1: 163,062,487 T227M probably damaging Het
Mtor C T 4: 148,538,881 Q2063* probably null Het
Ncstn A G 1: 172,069,961 probably benign Het
Nek9 T C 12: 85,301,899 T954A probably benign Het
Nlrc5 A T 8: 94,474,656 Y126F possibly damaging Het
Nr1d1 A G 11: 98,770,478 S321P probably benign Het
Olfr273 C A 4: 52,856,196 A106S probably damaging Het
Pkn2 T C 3: 142,810,827 I513V probably damaging Het
Pls1 T C 9: 95,787,063 E35G probably damaging Het
Polr3a A G 14: 24,469,255 probably benign Het
Rabgap1l A G 1: 160,627,369 probably benign Het
Raph1 T C 1: 60,500,605 K423E probably benign Het
Rbm27 A G 18: 42,298,464 D112G probably benign Het
Rbm46 A T 3: 82,864,230 S359R probably damaging Het
Rhobtb3 A T 13: 75,902,245 *100R probably null Het
Ryr2 T C 13: 11,595,784 E4052G probably damaging Het
Sart3 G T 5: 113,755,397 D346E possibly damaging Het
Sgsm1 A G 5: 113,268,750 F629S probably damaging Het
Siglec1 T C 2: 131,073,397 T1425A possibly damaging Het
Slc12a2 A T 18: 57,915,522 probably benign Het
Slc38a10 G T 11: 120,110,312 P561T probably benign Het
Slc45a4 A G 15: 73,605,436 probably benign Het
Snx25 A T 8: 46,105,109 probably benign Het
Son T A 16: 91,658,977 H1537Q possibly damaging Het
Synpo2l A T 14: 20,666,272 probably benign Het
Tarbp1 A G 8: 126,447,530 Y846H probably damaging Het
Tgfb1 T A 7: 25,694,354 probably benign Het
Tigd2 C A 6: 59,211,384 T412K possibly damaging Het
Umodl1 A T 17: 30,968,477 N172Y probably damaging Het
Urah C T 7: 140,836,752 T46I probably damaging Het
Usp8 C T 2: 126,737,889 P353L probably damaging Het
Vamp2 A G 11: 69,089,759 D51G possibly damaging Het
Vps13a A T 19: 16,676,140 V1959E probably damaging Het
Wdr76 C T 2: 121,535,419 probably benign Het
Zbtb38 C T 9: 96,687,676 V452M probably damaging Het
Zbtb41 A G 1: 139,441,834 K650E probably damaging Het
Zfp532 A G 18: 65,644,333 Y887C probably damaging Het
Other mutations in Ptgfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Ptgfr APN 3 151835686 missense probably benign 0.43
IGL02085:Ptgfr APN 3 151835800 missense probably benign 0.00
IGL02110:Ptgfr APN 3 151835460 missense probably damaging 0.97
IGL02971:Ptgfr APN 3 151835326 missense probably benign 0.00
IGL03263:Ptgfr APN 3 151835863 missense probably benign 0.00
R0048:Ptgfr UTSW 3 151835091 missense possibly damaging 0.51
R0602:Ptgfr UTSW 3 151835202 missense probably damaging 1.00
R0624:Ptgfr UTSW 3 151835202 missense probably damaging 1.00
R0633:Ptgfr UTSW 3 151801763 missense probably benign 0.00
R1614:Ptgfr UTSW 3 151801779 missense probably benign 0.44
R1930:Ptgfr UTSW 3 151835194 missense probably benign 0.16
R1931:Ptgfr UTSW 3 151835194 missense probably benign 0.16
R1989:Ptgfr UTSW 3 151835339 nonsense probably null
R4596:Ptgfr UTSW 3 151801793 missense probably damaging 1.00
R5899:Ptgfr UTSW 3 151835101 missense probably damaging 0.96
R6295:Ptgfr UTSW 3 151835289 missense probably benign 0.00
R6907:Ptgfr UTSW 3 151835301 missense possibly damaging 0.95
R7047:Ptgfr UTSW 3 151835541 missense possibly damaging 0.74
R7320:Ptgfr UTSW 3 151835397 missense probably benign 0.22
R8205:Ptgfr UTSW 3 151835781 missense probably benign 0.04
R8420:Ptgfr UTSW 3 151835416 missense possibly damaging 0.49
Z1176:Ptgfr UTSW 3 151835641 missense probably damaging 1.00
Posted On2013-03-25