Incidental Mutation 'R5600:Ptgfrn'
| ID |
438974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgfrn
|
| Ensembl Gene |
ENSMUSG00000027864 |
| Gene Name |
prostaglandin F2 receptor negative regulator |
| Synonyms |
4833445A08Rik, CD9P-1 |
| MMRRC Submission |
043152-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5600 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
100947548-101017594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100963566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 682
(D682G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102694]
|
| AlphaFold |
Q9WV91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102694
AA Change: D682G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099755
Gene: ENSMUSG00000027864
AA Change: D682G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198037
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol11b |
A |
C |
15: 77,519,288 (GRCm39) |
M264R |
probably damaging |
Het |
| Asprv1 |
G |
T |
6: 86,606,044 (GRCm39) |
E297* |
probably null |
Het |
| Atp6v1c1 |
T |
C |
15: 38,687,107 (GRCm39) |
V234A |
probably benign |
Het |
| Ccp110 |
G |
A |
7: 118,328,948 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
C |
5: 123,426,761 (GRCm39) |
V383A |
possibly damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,853,168 (GRCm39) |
C173R |
probably damaging |
Het |
| Gm5431 |
G |
A |
11: 48,785,583 (GRCm39) |
T264M |
possibly damaging |
Het |
| Golga1 |
T |
C |
2: 38,910,111 (GRCm39) |
E637G |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,832,046 (GRCm39) |
T1049A |
probably benign |
Het |
| Hcn4 |
T |
A |
9: 58,766,576 (GRCm39) |
|
probably null |
Het |
| Krt86 |
G |
A |
15: 101,374,386 (GRCm39) |
V260I |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,927,490 (GRCm39) |
Q548L |
probably damaging |
Het |
| Lingo4 |
A |
T |
3: 94,309,220 (GRCm39) |
I53F |
probably benign |
Het |
| Lrrk1 |
A |
C |
7: 65,956,963 (GRCm39) |
I336S |
probably benign |
Het |
| Magel2 |
G |
T |
7: 62,029,514 (GRCm39) |
G806V |
unknown |
Het |
| Mrc2 |
T |
A |
11: 105,224,492 (GRCm39) |
S501T |
probably damaging |
Het |
| Mrps18a |
T |
A |
17: 46,436,575 (GRCm39) |
L128* |
probably null |
Het |
| Mtor |
G |
T |
4: 148,575,927 (GRCm39) |
L1360F |
probably damaging |
Het |
| Mtpap |
A |
G |
18: 4,379,674 (GRCm39) |
E88G |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,436 (GRCm39) |
K1294R |
probably benign |
Het |
| Or10al2 |
G |
A |
17: 37,983,176 (GRCm39) |
M87I |
possibly damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,444,346 (GRCm39) |
V520M |
probably damaging |
Het |
| Pptc7 |
T |
A |
5: 122,458,918 (GRCm39) |
V305E |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,599,157 (GRCm39) |
Q538L |
probably damaging |
Het |
| Sbk1 |
G |
A |
7: 125,891,415 (GRCm39) |
R283H |
probably damaging |
Het |
| Sfswap |
T |
C |
5: 129,590,222 (GRCm39) |
F240L |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,927,503 (GRCm39) |
H101L |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,767,107 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,151,778 (GRCm39) |
T986A |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,188,101 (GRCm39) |
S496T |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,054,541 (GRCm39) |
|
probably null |
Het |
| Tiam1 |
G |
T |
16: 89,662,253 (GRCm39) |
R622S |
probably damaging |
Het |
| Vmn2r109 |
C |
A |
17: 20,761,189 (GRCm39) |
D723Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,212,935 (GRCm39) |
Q491K |
probably benign |
Het |
| Wnk1 |
A |
C |
6: 119,926,319 (GRCm39) |
S1297R |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,385,233 (GRCm39) |
V5067I |
unknown |
Het |
| Zfp108 |
A |
G |
7: 23,960,011 (GRCm39) |
S201G |
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 |
|
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 |
|
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'- TGTGCACATAAGCCACACTC -3'
(R):5'- AGTACATTATCTCCCTGGACCAG -3'
Sequencing Primer
(F):5'- TGTGCACATAAGCCACACTCATATAC -3'
(R):5'- AGGACTCCGTGGTGAAGCTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation