Incidental Mutation 'IGL02054:Pth2r'
| ID |
185173 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pth2r
|
| Ensembl Gene |
ENSMUSG00000025946 |
| Gene Name |
parathyroid hormone 2 receptor |
| Synonyms |
Pthr2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02054
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
65321215-65428403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65375940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 66
(I66N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027083]
[ENSMUST00000140190]
|
| AlphaFold |
Q91V95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027083
AA Change: I71N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027083
Gene: ENSMUSG00000025946
AA Change: I71N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
HormR
|
59 |
134 |
8.15e-28 |
SMART |
|
Pfam:7tm_2
|
139 |
406 |
5.1e-81 |
PFAM |
|
low complexity region
|
447 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140190
AA Change: I66N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114594
Gene: ENSMUSG00000025946
AA Change: I66N
| Domain | Start | End | E-Value | Type |
|---|
|
HormR
|
54 |
129 |
8.15e-28 |
SMART |
|
Pfam:7tm_2
|
134 |
174 |
1.1e-13 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
T |
11: 110,182,949 (GRCm39) |
P1036Q |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,261,253 (GRCm39) |
S163G |
probably benign |
Het |
| Camkk1 |
G |
A |
11: 72,916,708 (GRCm39) |
R102Q |
probably damaging |
Het |
| Caprin1 |
A |
C |
2: 103,602,143 (GRCm39) |
|
probably null |
Het |
| Cct8 |
A |
T |
16: 87,287,364 (GRCm39) |
|
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,893,552 (GRCm39) |
M941V |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,861,646 (GRCm39) |
R1327Q |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,033,630 (GRCm39) |
S529P |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,230,673 (GRCm39) |
D417G |
probably benign |
Het |
| Gemin2 |
G |
A |
12: 59,068,523 (GRCm39) |
|
probably null |
Het |
| Grk6 |
G |
T |
13: 55,602,210 (GRCm39) |
A346S |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,849 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
A |
10: 120,012,164 (GRCm39) |
Q200L |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,416,947 (GRCm39) |
T448A |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,223,595 (GRCm39) |
|
probably null |
Het |
| Kcnk18 |
G |
A |
19: 59,224,045 (GRCm39) |
|
probably benign |
Het |
| Klk1b11 |
C |
A |
7: 43,648,251 (GRCm39) |
S86Y |
possibly damaging |
Het |
| Lgals7 |
T |
C |
7: 28,565,614 (GRCm39) |
F136S |
probably damaging |
Het |
| Luc7l |
T |
A |
17: 26,498,314 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
T |
A |
19: 8,928,276 (GRCm39) |
V525E |
probably benign |
Het |
| Mtnr1b |
G |
T |
9: 15,785,536 (GRCm39) |
A74E |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,551,962 (GRCm39) |
T354A |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,074 (GRCm39) |
F153S |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,035,867 (GRCm39) |
C48R |
probably damaging |
Het |
| Or4f60 |
T |
G |
2: 111,902,269 (GRCm39) |
I220L |
probably benign |
Het |
| Pkm |
C |
A |
9: 59,585,484 (GRCm39) |
R489S |
probably damaging |
Het |
| Slc25a18 |
T |
C |
6: 120,769,358 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
T |
C |
6: 65,567,595 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,926,158 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pth2r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Pth2r
|
APN |
1 |
65,427,884 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02429:Pth2r
|
APN |
1 |
65,385,998 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0277:Pth2r
|
UTSW |
1 |
65,427,775 (GRCm39) |
missense |
probably benign |
|
|
R0323:Pth2r
|
UTSW |
1 |
65,427,775 (GRCm39) |
missense |
probably benign |
|
|
R0415:Pth2r
|
UTSW |
1 |
65,427,598 (GRCm39) |
missense |
probably benign |
|
|
R1067:Pth2r
|
UTSW |
1 |
65,411,507 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1463:Pth2r
|
UTSW |
1 |
65,402,436 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1566:Pth2r
|
UTSW |
1 |
65,427,697 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1690:Pth2r
|
UTSW |
1 |
65,411,462 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1710:Pth2r
|
UTSW |
1 |
65,375,997 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1957:Pth2r
|
UTSW |
1 |
65,411,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2062:Pth2r
|
UTSW |
1 |
65,382,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Pth2r
|
UTSW |
1 |
65,375,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2942:Pth2r
|
UTSW |
1 |
65,427,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3011:Pth2r
|
UTSW |
1 |
65,376,147 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3857:Pth2r
|
UTSW |
1 |
65,361,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3858:Pth2r
|
UTSW |
1 |
65,361,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3859:Pth2r
|
UTSW |
1 |
65,361,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4540:Pth2r
|
UTSW |
1 |
65,321,360 (GRCm39) |
missense |
probably benign |
|
|
R4694:Pth2r
|
UTSW |
1 |
65,375,920 (GRCm39) |
missense |
probably benign |
|
|
R4777:Pth2r
|
UTSW |
1 |
65,427,676 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4926:Pth2r
|
UTSW |
1 |
65,361,143 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5209:Pth2r
|
UTSW |
1 |
65,427,856 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5871:Pth2r
|
UTSW |
1 |
65,427,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6868:Pth2r
|
UTSW |
1 |
65,427,638 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7132:Pth2r
|
UTSW |
1 |
65,361,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7242:Pth2r
|
UTSW |
1 |
65,427,779 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7677:Pth2r
|
UTSW |
1 |
65,427,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7836:Pth2r
|
UTSW |
1 |
65,390,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Pth2r
|
UTSW |
1 |
65,382,660 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Z1176:Pth2r
|
UTSW |
1 |
65,402,467 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2014-05-07 |
Incidental Mutation