Incidental Mutation 'R6907:Ptgfr'
| ID |
538811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgfr
|
| Ensembl Gene |
ENSMUSG00000028036 |
| Gene Name |
prostaglandin F receptor |
| Synonyms |
FP, PGF |
| MMRRC Submission |
044999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R6907 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
151504247-151543165 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 151540938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 190
(T190K)
|
| 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: T190K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029670
Gene: ENSMUSG00000028036
AA Change: T190K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
23 |
304 |
6.8e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106126
AA Change: T190K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101732
Gene: ENSMUSG00000028036
AA Change: T190K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
43 |
304 |
7.6e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.2224 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
T |
C |
8: 112,698,793 (GRCm39) |
I344V |
probably benign |
Het |
| Bmper |
A |
T |
9: 23,310,868 (GRCm39) |
Q434L |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,969 (GRCm39) |
Y152C |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,159,278 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,599,505 (GRCm39) |
D238G |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,671,671 (GRCm39) |
T598A |
possibly damaging |
Het |
| Ctr9 |
C |
T |
7: 110,629,449 (GRCm39) |
P25L |
probably damaging |
Het |
| Entpd5 |
T |
C |
12: 84,424,127 (GRCm39) |
T409A |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,363,957 (GRCm39) |
V137A |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,443 (GRCm39) |
G168R |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,683,067 (GRCm39) |
N248S |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,939,888 (GRCm39) |
Y1561N |
probably damaging |
Het |
| Mef2c |
A |
G |
13: 83,802,730 (GRCm39) |
D227G |
probably benign |
Het |
| Myh2 |
C |
T |
11: 67,084,567 (GRCm39) |
T1702M |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,437 (GRCm39) |
N263K |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,636 (GRCm39) |
L373P |
probably damaging |
Het |
| Nob1 |
C |
T |
8: 108,142,860 (GRCm39) |
V274M |
possibly damaging |
Het |
| Ntng2 |
A |
G |
2: 29,118,218 (GRCm39) |
C77R |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or10ad1c |
T |
C |
15: 98,085,649 (GRCm39) |
N10D |
probably damaging |
Het |
| Or5p55 |
T |
C |
7: 107,567,459 (GRCm39) |
L285P |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,876,471 (GRCm39) |
W9R |
possibly damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,064,124 (GRCm39) |
T263A |
probably benign |
Het |
| Per3 |
C |
T |
4: 151,128,015 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
A |
G |
8: 125,107,021 (GRCm39) |
F265L |
probably damaging |
Het |
| Ppm1k |
T |
G |
6: 57,487,755 (GRCm39) |
E356A |
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,603,103 (GRCm39) |
Y782H |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,301,295 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,090,323 (GRCm39) |
T253I |
possibly damaging |
Het |
| Tcf4 |
C |
T |
18: 69,785,484 (GRCm39) |
T207M |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,700,897 (GRCm39) |
N1203S |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,304,917 (GRCm39) |
S5T |
probably damaging |
Het |
| Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,655,751 (GRCm39) |
S38P |
probably benign |
Het |
| Vrk1 |
G |
T |
12: 106,041,291 (GRCm39) |
Q395H |
possibly damaging |
Het |
| Vwa3a |
G |
T |
7: 120,391,804 (GRCm39) |
|
probably benign |
Het |
| Wdsub1 |
C |
T |
2: 59,692,028 (GRCm39) |
V335I |
possibly damaging |
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 |
|
R7047:Ptgfr
|
UTSW |
3 |
151,541,178 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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'- ACGCACATTATGGCCAGGAG -3'
(R):5'- TTTCTAGGCAGTGCGATGGC -3'
Sequencing Primer
(F):5'- AGCTGAATGATCATCTCCAGGTG -3'
(R):5'- CCATCGAGAGGTGTATAGGAGTCAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation