Incidental Mutation 'R1690:Pth2r'
ID |
191698 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pth2r
|
Ensembl Gene |
ENSMUSG00000025946 |
Gene Name |
parathyroid hormone 2 receptor |
Synonyms |
Pthr2 |
MMRRC Submission |
039723-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1690 (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 65411462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 333
(T333I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027083]
|
AlphaFold |
Q91V95 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027083
AA Change: T333I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000027083 Gene: ENSMUSG00000025946 AA Change: T333I
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
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 |
Actn4 |
A |
G |
7: 28,610,950 (GRCm39) |
S263P |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,347,494 (GRCm39) |
E403G |
probably damaging |
Het |
Adgrg7 |
A |
T |
16: 56,615,993 (GRCm39) |
V11E |
probably damaging |
Het |
Arhgap35 |
A |
G |
7: 16,297,206 (GRCm39) |
C620R |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,739,505 (GRCm39) |
|
probably null |
Het |
Cfap54 |
A |
G |
10: 92,871,304 (GRCm39) |
S639P |
possibly damaging |
Het |
Csf2rb |
T |
C |
15: 78,232,844 (GRCm39) |
V717A |
probably benign |
Het |
D17H6S53E |
A |
G |
17: 35,346,188 (GRCm39) |
D33G |
possibly damaging |
Het |
Dpf2 |
C |
T |
19: 5,955,490 (GRCm39) |
R131Q |
probably damaging |
Het |
Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fgf15 |
A |
G |
7: 144,453,665 (GRCm39) |
S213G |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,355,827 (GRCm39) |
F756Y |
unknown |
Het |
Hnrnpk |
T |
A |
13: 58,548,168 (GRCm39) |
T13S |
probably benign |
Het |
Htr3b |
T |
A |
9: 48,848,394 (GRCm39) |
M284L |
possibly damaging |
Het |
Itgal |
T |
C |
7: 126,901,289 (GRCm39) |
M225T |
possibly damaging |
Het |
Lipi |
A |
G |
16: 75,338,013 (GRCm39) |
Y454H |
probably damaging |
Het |
Lrit3 |
T |
C |
3: 129,594,394 (GRCm39) |
K61R |
probably damaging |
Het |
Lta4h |
A |
G |
10: 93,320,554 (GRCm39) |
D583G |
probably benign |
Het |
Mettl17 |
T |
A |
14: 52,128,918 (GRCm39) |
V396D |
probably damaging |
Het |
Nlrc4 |
G |
A |
17: 74,744,518 (GRCm39) |
R788* |
probably null |
Het |
Or8k25 |
T |
A |
2: 86,244,298 (GRCm39) |
I33F |
probably benign |
Het |
Pepd |
G |
A |
7: 34,730,782 (GRCm39) |
G278D |
probably damaging |
Het |
Pramel23 |
T |
C |
4: 143,424,693 (GRCm39) |
E250G |
probably benign |
Het |
Prkcsh |
T |
A |
9: 21,921,871 (GRCm39) |
D245E |
probably damaging |
Het |
Prlr |
A |
T |
15: 10,317,676 (GRCm39) |
D84V |
probably damaging |
Het |
Ptk2 |
T |
A |
15: 73,134,459 (GRCm39) |
I547F |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,925,732 (GRCm39) |
S162T |
probably damaging |
Het |
Rnf41 |
C |
A |
10: 128,271,329 (GRCm39) |
Q80K |
possibly damaging |
Het |
Scn7a |
T |
G |
2: 66,506,287 (GRCm39) |
D1534A |
probably damaging |
Het |
Septin12 |
A |
G |
16: 4,806,378 (GRCm39) |
V261A |
probably damaging |
Het |
Sh2d4a |
T |
C |
8: 68,747,101 (GRCm39) |
S110P |
probably benign |
Het |
Soat1 |
A |
T |
1: 156,272,144 (GRCm39) |
S114T |
probably benign |
Het |
Taar8a |
A |
G |
10: 23,952,813 (GRCm39) |
Y139C |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,777,354 (GRCm39) |
|
probably null |
Het |
Tmem202 |
T |
A |
9: 59,426,391 (GRCm39) |
R258S |
possibly damaging |
Het |
Ttc39b |
A |
T |
4: 83,145,414 (GRCm39) |
I604N |
probably damaging |
Het |
Vit |
A |
G |
17: 78,932,294 (GRCm39) |
D467G |
probably damaging |
Het |
Zc3hc1 |
A |
G |
6: 30,390,940 (GRCm39) |
V21A |
probably damaging |
Het |
Zfp608 |
T |
A |
18: 55,120,706 (GRCm39) |
I294F |
possibly damaging |
Het |
Zfp825 |
T |
A |
13: 74,628,781 (GRCm39) |
H227L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAGAGGCAGAGCGAGGTTTTAATAT -3'
(R):5'- AGCTATCAATTCACCAAAGATTGGGTGT -3'
Sequencing Primer
(F):5'- GCCTTCCATAAGGCTATATCTGAAC -3'
(R):5'- ACTTGCTTCCAACAAATCGTG -3'
|
Posted On |
2014-05-14 |