Incidental Mutation 'R4540:Pth2r'
ID |
333473 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pth2r
|
Ensembl Gene |
ENSMUSG00000025946 |
Gene Name |
parathyroid hormone 2 receptor |
Synonyms |
Pthr2 |
MMRRC Submission |
041776-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4540 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
65321215-65428403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65321360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 13
(N13S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114594
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081154]
[ENSMUST00000140190]
|
AlphaFold |
Q91V95 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081154
|
SMART Domains |
Protein: ENSMUSP00000079926 Gene: ENSMUSG00000025949
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
81 |
N/A |
INTRINSIC |
FYVE
|
161 |
230 |
5.95e-18 |
SMART |
DEP
|
376 |
451 |
9.05e-27 |
SMART |
Pfam:Cpn60_TCP1
|
547 |
822 |
2e-37 |
PFAM |
low complexity region
|
1177 |
1189 |
N/A |
INTRINSIC |
low complexity region
|
1516 |
1536 |
N/A |
INTRINSIC |
PIPKc
|
1745 |
2039 |
3.03e-162 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140190
AA Change: N13S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114594 Gene: ENSMUSG00000025946 AA Change: N13S
Domain | Start | End | E-Value | Type |
HormR
|
54 |
129 |
8.15e-28 |
SMART |
Pfam:7tm_2
|
134 |
174 |
1.1e-13 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (43/43) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6a |
A |
T |
12: 113,508,119 (GRCm39) |
H164L |
probably damaging |
Het |
Arrdc3 |
C |
A |
13: 81,038,790 (GRCm39) |
R31S |
possibly damaging |
Het |
Baiap3 |
C |
T |
17: 25,465,644 (GRCm39) |
V585M |
probably damaging |
Het |
Braf |
A |
G |
6: 39,621,267 (GRCm39) |
S391P |
probably damaging |
Het |
Ccdc51 |
T |
C |
9: 108,921,288 (GRCm39) |
F392L |
possibly damaging |
Het |
Cd1d1 |
A |
G |
3: 86,904,012 (GRCm39) |
I194T |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,094,992 (GRCm39) |
K806E |
probably damaging |
Het |
Cntn4 |
A |
G |
6: 106,652,709 (GRCm39) |
E726G |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,890,815 (GRCm39) |
Y384C |
unknown |
Het |
Cops3 |
A |
T |
11: 59,720,980 (GRCm39) |
L145H |
probably damaging |
Het |
Cul9 |
C |
T |
17: 46,814,015 (GRCm39) |
M2286I |
probably null |
Het |
Echdc1 |
G |
A |
10: 29,220,578 (GRCm39) |
V245I |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,782,009 (GRCm39) |
M261L |
probably benign |
Het |
Gm4353 |
A |
G |
7: 115,683,212 (GRCm39) |
L123P |
probably benign |
Het |
Hcfc2 |
G |
C |
10: 82,568,481 (GRCm39) |
E42Q |
probably benign |
Het |
Hfm1 |
A |
C |
5: 107,022,087 (GRCm39) |
Y199* |
probably null |
Het |
Iba57 |
G |
A |
11: 59,053,904 (GRCm39) |
|
probably benign |
Het |
Ihh |
T |
A |
1: 74,987,558 (GRCm39) |
N161I |
possibly damaging |
Het |
Kcnh7 |
A |
G |
2: 62,569,530 (GRCm39) |
S789P |
probably damaging |
Het |
Kndc1 |
C |
A |
7: 139,501,343 (GRCm39) |
C877* |
probably null |
Het |
Lhcgr |
A |
G |
17: 89,063,036 (GRCm39) |
I212T |
probably benign |
Het |
Lrrtm2 |
T |
A |
18: 35,346,199 (GRCm39) |
T368S |
probably benign |
Het |
Mag |
A |
C |
7: 30,600,154 (GRCm39) |
V500G |
probably damaging |
Het |
Nadsyn1 |
A |
G |
7: 143,356,960 (GRCm39) |
V512A |
probably damaging |
Het |
Nlrp3 |
G |
A |
11: 59,442,725 (GRCm39) |
C759Y |
possibly damaging |
Het |
Nup107 |
T |
C |
10: 117,597,925 (GRCm39) |
|
probably null |
Het |
Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
Or4f56 |
T |
C |
2: 111,703,546 (GRCm39) |
Y218C |
probably damaging |
Het |
Pcdha1 |
A |
C |
18: 37,064,680 (GRCm39) |
D448A |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,605,506 (GRCm39) |
|
probably null |
Het |
Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
Selenoi |
A |
G |
5: 30,461,085 (GRCm39) |
D107G |
probably damaging |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Spag17 |
C |
T |
3: 99,995,697 (GRCm39) |
P1779S |
probably damaging |
Het |
Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
Tbc1d30 |
T |
C |
10: 121,115,063 (GRCm39) |
E365G |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,922,309 (GRCm39) |
T2374I |
possibly damaging |
Het |
Trip12 |
A |
G |
1: 84,726,997 (GRCm39) |
I1T |
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 |
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 |
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 |
PCR Primer
(F):5'- AAGTATGATCAGGTTTGGAGTAAAC -3'
(R):5'- CAGTTTGCCCTGAATTTCATACTATG -3'
Sequencing Primer
(F):5'- TCCTGCGACTCATGATGGAAG -3'
(R):5'- GCCCTGAATTTCATACTATGTTTTTG -3'
|
Posted On |
2015-08-18 |