Incidental Mutation 'R5871:Pth2r'
| ID |
455170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pth2r
|
| Ensembl Gene |
ENSMUSG00000025946 |
| Gene Name |
parathyroid hormone 2 receptor |
| Synonyms |
Pthr2 |
| MMRRC Submission |
043234-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5871 (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 65427796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 490
(P490S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027083]
|
| AlphaFold |
Q91V95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027083
AA Change: P490S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027083
Gene: ENSMUSG00000025946
AA Change: P490S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
A |
T |
1: 173,159,640 (GRCm39) |
L293Q |
probably damaging |
Het |
| Ankrd13d |
A |
G |
19: 4,332,022 (GRCm39) |
V92A |
possibly damaging |
Het |
| Anxa5 |
T |
A |
3: 36,506,398 (GRCm39) |
Q218L |
possibly damaging |
Het |
| Bend6 |
T |
C |
1: 33,902,946 (GRCm39) |
M135V |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,558 (GRCm39) |
F54L |
probably benign |
Het |
| Chrng |
T |
C |
1: 87,134,451 (GRCm39) |
V164A |
possibly damaging |
Het |
| Clca3a1 |
T |
G |
3: 144,460,642 (GRCm39) |
S271R |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,752,112 (GRCm39) |
T1282I |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,519,057 (GRCm39) |
|
probably null |
Het |
| Esrrb |
A |
G |
12: 86,552,661 (GRCm39) |
Y196C |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,631,321 (GRCm39) |
D208G |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,533,243 (GRCm39) |
E520G |
probably benign |
Het |
| Fgf9 |
A |
T |
14: 58,320,656 (GRCm39) |
|
probably null |
Het |
| Gatb |
T |
A |
3: 85,561,083 (GRCm39) |
L533* |
probably null |
Het |
| Igsf10 |
G |
T |
3: 59,237,832 (GRCm39) |
A783D |
possibly damaging |
Het |
| Ldlrap1 |
A |
G |
4: 134,486,240 (GRCm39) |
I73T |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,507,280 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
G |
A |
8: 40,064,693 (GRCm39) |
P327L |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,723,306 (GRCm39) |
Y823H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,039 (GRCm39) |
E835G |
probably damaging |
Het |
| Nfam1 |
A |
G |
15: 82,900,623 (GRCm39) |
S120P |
probably damaging |
Het |
| Or4k44 |
A |
G |
2: 111,367,984 (GRCm39) |
S217P |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,511 (GRCm39) |
V196A |
possibly damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,628 (GRCm39) |
I37K |
possibly damaging |
Het |
| Or9m2 |
T |
C |
2: 87,821,355 (GRCm39) |
F300S |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
| Pik3r3 |
G |
T |
4: 116,143,355 (GRCm39) |
E283* |
probably null |
Het |
| Plcg2 |
T |
A |
8: 118,230,956 (GRCm39) |
Y13N |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,190,757 (GRCm39) |
M275K |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,948,014 (GRCm39) |
E1223G |
possibly damaging |
Het |
| Sec14l5 |
T |
A |
16: 4,986,717 (GRCm39) |
N168K |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,005,045 (GRCm39) |
V425A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,387,027 (GRCm39) |
V13A |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,103,669 (GRCm39) |
|
probably null |
Het |
| Tbrg1 |
A |
G |
9: 37,562,278 (GRCm39) |
I300T |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 154,736,007 (GRCm39) |
D112V |
probably benign |
Het |
| Ubxn1 |
A |
G |
19: 8,851,576 (GRCm39) |
Q203R |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,381 (GRCm39) |
D180G |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 9,996,234 (GRCm39) |
F449L |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,321,458 (GRCm39) |
L552P |
unknown |
Het |
| Zscan10 |
A |
G |
17: 23,826,241 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- GTGGACTCGATGGAATCTGTC -3'
(R):5'- TCTGCCAATCCACAGGAACG -3'
Sequencing Primer
(F):5'- GGAATCTGTCCATCGACTGG -3'
(R):5'- CCAATCCACAGGAACGGAAATGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation