Incidental Mutation 'R6124:Ptgfrn'
| ID |
485860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgfrn
|
| Ensembl Gene |
ENSMUSG00000027864 |
| Gene Name |
prostaglandin F2 receptor negative regulator |
| Synonyms |
4833445A08Rik, CD9P-1 |
| MMRRC Submission |
044271-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6124 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
100947548-101017594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100980405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 312
(E312K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102694]
|
| AlphaFold |
Q9WV91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102694
AA Change: E312K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099755
Gene: ENSMUSG00000027864
AA Change: E312K
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200065
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| 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 |
|---|
| 2900026A02Rik |
T |
C |
5: 113,331,622 (GRCm39) |
N864S |
probably benign |
Het |
| Ank2 |
C |
T |
3: 127,041,800 (GRCm39) |
V35M |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,142,185 (GRCm39) |
M368T |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,365,515 (GRCm39) |
T413M |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,397 (GRCm39) |
L86P |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,547,691 (GRCm39) |
Y598C |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,073,260 (GRCm39) |
N2428D |
probably benign |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,125,396 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9913 |
T |
A |
2: 125,348,393 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,201,728 (GRCm39) |
N287S |
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,549,300 (GRCm39) |
N181K |
probably benign |
Het |
| Hormad1 |
A |
G |
3: 95,483,613 (GRCm39) |
T142A |
probably benign |
Het |
| Klrh1 |
A |
T |
6: 129,745,098 (GRCm39) |
F166Y |
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,365 (GRCm39) |
P106Q |
probably damaging |
Het |
| Lonrf1 |
T |
A |
8: 36,696,354 (GRCm39) |
N565I |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,651,936 (GRCm39) |
S349P |
probably benign |
Het |
| Mcee |
T |
A |
7: 64,050,023 (GRCm39) |
N51K |
probably damaging |
Het |
| Mfsd6 |
A |
C |
1: 52,747,411 (GRCm39) |
F485V |
probably damaging |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Nlrp6 |
T |
A |
7: 140,503,160 (GRCm39) |
V422E |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,374,458 (GRCm39) |
S23P |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,000,610 (GRCm39) |
H42Q |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,969,870 (GRCm39) |
S91T |
probably benign |
Het |
| Or10ak13 |
C |
A |
4: 118,639,392 (GRCm39) |
C130F |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,097,846 (GRCm39) |
Y35N |
probably damaging |
Het |
| Or13a20 |
A |
T |
7: 140,232,507 (GRCm39) |
D205V |
probably damaging |
Het |
| Or5p72 |
A |
T |
7: 108,022,725 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Or6d15 |
T |
C |
6: 116,559,446 (GRCm39) |
I154V |
probably benign |
Het |
| Papss2 |
T |
A |
19: 32,614,528 (GRCm39) |
N81K |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,309,696 (GRCm39) |
I147T |
possibly damaging |
Het |
| Serpinb1b |
T |
C |
13: 33,277,796 (GRCm39) |
V343A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,860,544 (GRCm39) |
N261S |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,133,116 (GRCm39) |
N310S |
probably damaging |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Snrnp48 |
T |
A |
13: 38,400,439 (GRCm39) |
I182N |
possibly damaging |
Het |
| Tppp2 |
A |
T |
14: 52,156,937 (GRCm39) |
T105S |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Vmn1r19 |
A |
C |
6: 57,381,602 (GRCm39) |
M52L |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,321 (GRCm39) |
R656S |
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 |
|
R5984:Ptgfrn
|
UTSW |
3 |
100,957,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GTAGCCCGAGTTTTCTTTGC -3'
(R):5'- GCACTTTCAACTGTACAAAGCC -3'
Sequencing Primer
(F):5'- TGCTAACATCTCGCACCAGTAGATG -3'
(R):5'- ATCAACCTAAAGGGGCGAC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation