Incidental Mutation 'R6473:Ptgfrn'
| ID |
520328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgfrn
|
| Ensembl Gene |
ENSMUSG00000027864 |
| Gene Name |
prostaglandin F2 receptor negative regulator |
| Synonyms |
4833445A08Rik, CD9P-1 |
| MMRRC Submission |
044606-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6473 (G1)
|
| Quality Score |
176.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100947548-101017594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100952955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 760
(R760G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102694]
|
| AlphaFold |
Q9WV91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102694
AA Change: R760G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099755
Gene: ENSMUSG00000027864
AA Change: R760G
| 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 |
|
| Meta Mutation Damage Score |
0.6133 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.9%
|
| Validation Efficiency |
95% (36/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
T |
C |
16: 85,596,531 (GRCm39) |
D106G |
probably damaging |
Het |
| Adat3 |
A |
G |
10: 80,442,801 (GRCm39) |
D213G |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,628,694 (GRCm39) |
D32G |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,002,962 (GRCm39) |
R61* |
probably null |
Het |
| Ash2l |
T |
A |
8: 26,325,008 (GRCm39) |
T184S |
probably damaging |
Het |
| B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
| Chmp2b |
C |
T |
16: 65,343,758 (GRCm39) |
G96S |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,675,968 (GRCm39) |
N248S |
probably benign |
Het |
| Cyp46a1 |
G |
T |
12: 108,321,734 (GRCm39) |
R320L |
possibly damaging |
Het |
| Dact1 |
A |
G |
12: 71,364,472 (GRCm39) |
T418A |
probably benign |
Het |
| Ddx3y |
T |
C |
Y: 1,265,971 (GRCm39) |
Y342C |
possibly damaging |
Homo |
| Dnm3 |
T |
A |
1: 162,305,274 (GRCm39) |
Q40L |
probably damaging |
Het |
| Eif2s1 |
T |
C |
12: 78,927,999 (GRCm39) |
I225T |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,456,096 (GRCm39) |
I795N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,687 (GRCm39) |
|
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 34,025,672 (GRCm39) |
I551T |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,997,404 (GRCm39) |
T755A |
probably benign |
Het |
| Mrps31 |
A |
G |
8: 22,904,881 (GRCm39) |
D90G |
probably benign |
Het |
| Or14j4 |
T |
A |
17: 37,920,887 (GRCm39) |
T252S |
possibly damaging |
Het |
| Or5h23 |
A |
T |
16: 58,906,406 (GRCm39) |
L147M |
probably benign |
Het |
| P2ry12 |
T |
A |
3: 59,124,932 (GRCm39) |
I248F |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slpi |
T |
C |
2: 164,196,846 (GRCm39) |
Y116C |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Terb1 |
T |
A |
8: 105,199,669 (GRCm39) |
E425V |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,906,058 (GRCm39) |
S281P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,317,792 (GRCm39) |
M1V |
probably null |
Het |
| Usp16 |
G |
A |
16: 87,280,023 (GRCm39) |
S741N |
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,336,419 (GRCm39) |
|
probably null |
Het |
| Vipr1 |
T |
C |
9: 121,497,621 (GRCm39) |
S380P |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,820,583 (GRCm39) |
I287K |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,454,188 (GRCm39) |
C129R |
probably damaging |
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 |
|
R5984:Ptgfrn
|
UTSW |
3 |
100,957,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CACAGTTATAAAGATGGGCCTGG -3'
(R):5'- TACAGAACAGACCTGGCCAG -3'
Sequencing Primer
(F):5'- TTATAAAGATGGGCCTGGAGTGGATC -3'
(R):5'- CGTGTAAGGGTTGCACACAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation