Incidental Mutation 'IGL02085:Ptgfr'
ID283517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptgfr
Ensembl Gene ENSMUSG00000028036
Gene Nameprostaglandin F receptor
SynonymsFP, PGF
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL02085
Quality Score
Status
Chromosome3
Chromosomal Location151796502-151837630 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 151835800 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 24 (T24A)
Ref Sequence ENSEMBL: ENSMUSP00000101732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029670] [ENSMUST00000106126]
Predicted Effect probably benign
Transcript: ENSMUST00000029670
AA Change: T24A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029670
Gene: ENSMUSG00000028036
AA Change: T24A

DomainStartEndE-ValueType
Pfam:7tm_1 23 304 6.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106126
AA Change: T24A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101732
Gene: ENSMUSG00000028036
AA Change: T24A

DomainStartEndE-ValueType
Pfam:7tm_1 43 304 7.6e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197392
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,281,557 probably null Het
Akr1c14 T A 13: 4,078,035 C145* probably null Het
Arhgef26 A G 3: 62,459,724 probably benign Het
Asb9 A G X: 164,535,456 M215V probably benign Het
Atoh8 C A 6: 72,235,173 probably benign Het
Atp6v1b1 T A 6: 83,753,915 probably benign Het
Cep97 T C 16: 55,915,505 E310G probably damaging Het
Ctrc C T 4: 141,843,714 D72N possibly damaging Het
Dnah2 A G 11: 69,458,185 I2492T probably benign Het
Emilin2 A G 17: 71,275,149 V194A probably damaging Het
Epb41l5 T C 1: 119,572,856 T524A probably benign Het
Fam91a1 A G 15: 58,441,656 N497S possibly damaging Het
Gabpb1 A T 2: 126,639,271 C319* probably null Het
Galnt10 A G 11: 57,782,278 T487A probably benign Het
Hecw2 T A 1: 53,942,802 probably null Het
Hmg20a C T 9: 56,477,302 Q119* probably null Het
Ifi44l A G 3: 151,762,840 S18P unknown Het
Immt T A 6: 71,851,836 V125E probably benign Het
Ints13 T C 6: 146,549,939 probably benign Het
Lrp1b C T 2: 40,889,309 G2574S probably benign Het
Myoc T C 1: 162,639,774 C171R probably benign Het
Ncbp1 C T 4: 46,159,699 T404M probably damaging Het
Npy6r A G 18: 44,275,931 N140D probably damaging Het
Nrxn2 A T 19: 6,492,868 M1041L possibly damaging Het
Nsmaf G A 4: 6,398,551 P851L probably benign Het
Nutm2 T A 13: 50,473,793 probably null Het
Olfr117 A G 17: 37,659,688 V215A probably benign Het
Olfr1314 A C 2: 112,092,524 M59R probably damaging Het
Olfr1329 A G 4: 118,916,750 F239S probably damaging Het
Padi2 T G 4: 140,927,157 Y206* probably null Het
Pcdh19 A T X: 133,681,258 Y766* probably null Het
Pde12 A G 14: 26,666,464 probably benign Het
Ppl C T 16: 5,089,816 G872R probably benign Het
Prkag3 C T 1: 74,748,812 probably benign Het
Rpe65 T C 3: 159,615,646 V365A probably benign Het
Shank3 T C 15: 89,503,915 probably null Het
Slco1a6 T C 6: 142,086,474 T642A probably benign Het
Slco6d1 C A 1: 98,443,743 P275T probably damaging Het
Smarca1 G T X: 47,875,232 Q343K probably damaging Het
Smoc2 A G 17: 14,347,233 T180A possibly damaging Het
Tfrc G A 16: 32,621,186 V406I probably benign Het
Tigit C T 16: 43,649,110 G206D probably benign Het
Triobp G A 15: 78,974,297 probably benign Het
Trmo T C 4: 46,380,217 Y384C probably damaging Het
Vmn1r89 T A 7: 13,219,538 I67N probably damaging Het
Wdr17 C A 8: 54,687,736 E194* probably null Het
Other mutations in Ptgfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Ptgfr APN 3 151835686 missense probably benign 0.43
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
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 On2015-04-16