Incidental Mutation 'R3011:Pth2r'
ID |
477392 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pth2r
|
Ensembl Gene |
ENSMUSG00000025946 |
Gene Name |
parathyroid hormone 2 receptor |
Synonyms |
Pthr2 |
MMRRC Submission |
040533-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3011 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
65321215-65428403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 65376147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 97
(H97Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114594
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027083]
[ENSMUST00000140190]
|
AlphaFold |
Q91V95 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027083
AA Change: H102Y
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000027083 Gene: ENSMUSG00000025946 AA Change: H102Y
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 benign
Transcript: ENSMUST00000140190
AA Change: H97Y
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000114594 Gene: ENSMUSG00000025946 AA Change: H97Y
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (29/29) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
probably damaging |
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 |
IGL02054:Pth2r
|
APN |
1 |
65,375,940 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-05-15 |