Incidental Mutation 'R5984:Ptgfrn'
| ID |
481551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgfrn
|
| Ensembl Gene |
ENSMUSG00000027864 |
| Gene Name |
prostaglandin F2 receptor negative regulator |
| Synonyms |
4833445A08Rik, CD9P-1 |
| MMRRC Submission |
043251-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
100947548-101017594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100957459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 705
(D705G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102694]
|
| AlphaFold |
Q9WV91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102694
AA Change: D705G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099755
Gene: ENSMUSG00000027864
AA Change: D705G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGv
|
38 |
121 |
3.01e-7 |
SMART |
|
IG
|
154 |
264 |
1.54e-4 |
SMART |
|
IG
|
284 |
390 |
1.11e-5 |
SMART |
|
IG
|
414 |
532 |
1.72e-2 |
SMART |
|
IG
|
556 |
676 |
9.71e-2 |
SMART |
|
IG
|
696 |
822 |
5.21e-2 |
SMART |
|
transmembrane domain
|
831 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
872 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice for a null gene trap mutation exhibit a decreased depressive-like response during tail suspension testing when compared with their wild-type littermates, [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,439,165 (GRCm39) |
L130F |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,137,881 (GRCm39) |
T420A |
possibly damaging |
Het |
| Ano5 |
T |
C |
7: 51,243,412 (GRCm39) |
I795T |
probably damaging |
Het |
| Atpsckmt |
C |
T |
15: 31,617,065 (GRCm39) |
R99* |
probably null |
Het |
| Crlf2 |
G |
A |
5: 109,703,469 (GRCm39) |
P92L |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,386,458 (GRCm39) |
Y492C |
probably damaging |
Het |
| Dna2 |
G |
C |
10: 62,798,285 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,211,344 (GRCm39) |
H982R |
probably benign |
Het |
| F13b |
A |
G |
1: 139,435,950 (GRCm39) |
D252G |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,887,049 (GRCm39) |
E151V |
probably damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,488,573 (GRCm39) |
T264A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,047,587 (GRCm39) |
E329G |
probably damaging |
Het |
| Git1 |
C |
T |
11: 77,397,309 (GRCm39) |
P721S |
possibly damaging |
Het |
| Hcn3 |
T |
C |
3: 89,055,570 (GRCm39) |
E559G |
probably benign |
Het |
| Invs |
G |
A |
4: 48,421,674 (GRCm39) |
A769T |
probably benign |
Het |
| Ism2 |
T |
A |
12: 87,333,809 (GRCm39) |
T79S |
possibly damaging |
Het |
| Lamb1 |
G |
A |
12: 31,377,773 (GRCm39) |
E1673K |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,111,656 (GRCm39) |
L792H |
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,543 (GRCm39) |
S380T |
probably benign |
Het |
| Mff |
A |
G |
1: 82,708,848 (GRCm39) |
I66V |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,623,284 (GRCm39) |
K2045E |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,364,120 (GRCm39) |
W4393L |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,690,407 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8k32 |
A |
T |
2: 86,368,512 (GRCm39) |
V249E |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,733 (GRCm39) |
D414G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,835,022 (GRCm39) |
E149G |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,666 (GRCm39) |
R240G |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,927 (GRCm39) |
F389Y |
possibly damaging |
Het |
| Prex1 |
T |
G |
2: 166,427,664 (GRCm39) |
D826A |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,454 (GRCm39) |
S253T |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,655,335 (GRCm39) |
N544I |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,618,685 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,770,595 (GRCm39) |
Y207H |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,613,082 (GRCm39) |
R836H |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,212 (GRCm39) |
T32A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,810,982 (GRCm39) |
M1L |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,759,561 (GRCm39) |
D190G |
possibly damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,068,464 (GRCm39) |
D1677N |
probably damaging |
Het |
| Tmem132e |
G |
A |
11: 82,335,923 (GRCm39) |
D1002N |
probably damaging |
Het |
| Usp8 |
C |
A |
2: 126,584,401 (GRCm39) |
Q526K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,597 (GRCm39) |
S488G |
probably benign |
Het |
| Zbtb43 |
A |
G |
2: 33,344,272 (GRCm39) |
S318P |
probably benign |
Het |
|
| Other mutations in Ptgfrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Ptgfrn
|
APN |
3 |
100,980,161 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01710:Ptgfrn
|
APN |
3 |
100,980,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02557:Ptgfrn
|
APN |
3 |
100,967,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02740:Ptgfrn
|
APN |
3 |
100,980,253 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02817:Ptgfrn
|
APN |
3 |
100,968,068 (GRCm39) |
missense |
probably benign |
|
|
IGL02948:Ptgfrn
|
APN |
3 |
100,980,135 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1540:Ptgfrn
|
UTSW |
3 |
100,967,970 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1563:Ptgfrn
|
UTSW |
3 |
100,967,967 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1730:Ptgfrn
|
UTSW |
3 |
100,963,758 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1766:Ptgfrn
|
UTSW |
3 |
100,957,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Ptgfrn
|
UTSW |
3 |
100,963,758 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1918:Ptgfrn
|
UTSW |
3 |
100,963,623 (GRCm39) |
missense |
probably benign |
|
|
R2113:Ptgfrn
|
UTSW |
3 |
100,984,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2290:Ptgfrn
|
UTSW |
3 |
100,984,677 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3522:Ptgfrn
|
UTSW |
3 |
100,950,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Ptgfrn
|
UTSW |
3 |
100,952,909 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5600:Ptgfrn
|
UTSW |
3 |
100,963,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5642:Ptgfrn
|
UTSW |
3 |
100,950,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5927:Ptgfrn
|
UTSW |
3 |
100,967,968 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6124:Ptgfrn
|
UTSW |
3 |
100,980,405 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6331:Ptgfrn
|
UTSW |
3 |
100,952,936 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6363:Ptgfrn
|
UTSW |
3 |
100,952,894 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6473:Ptgfrn
|
UTSW |
3 |
100,952,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Ptgfrn
|
UTSW |
3 |
100,952,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Ptgfrn
|
UTSW |
3 |
100,987,511 (GRCm39) |
nonsense |
probably null |
|
|
R7313:Ptgfrn
|
UTSW |
3 |
100,980,363 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7361:Ptgfrn
|
UTSW |
3 |
100,984,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7806:Ptgfrn
|
UTSW |
3 |
100,984,448 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7823:Ptgfrn
|
UTSW |
3 |
100,950,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Ptgfrn
|
UTSW |
3 |
100,968,126 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8093:Ptgfrn
|
UTSW |
3 |
100,980,257 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8093:Ptgfrn
|
UTSW |
3 |
100,963,753 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8490:Ptgfrn
|
UTSW |
3 |
100,963,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8856:Ptgfrn
|
UTSW |
3 |
100,963,927 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1088:Ptgfrn
|
UTSW |
3 |
100,963,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCCAGCAATGAGTCAGG -3'
(R):5'- TTTGTAGACCGATTCCCAGAAAAG -3'
Sequencing Primer
(F):5'- CCTGTTTATAGAACCCAGGATGGC -3'
(R):5'- AGAGAGCCACATTTAGATGCTCTTGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation