Incidental Mutation 'R4638:Pth1r'
| ID |
350801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pth1r
|
| Ensembl Gene |
ENSMUSG00000032492 |
| Gene Name |
parathyroid hormone 1 receptor |
| Synonyms |
PTH/PTHrP receptor, PTH-related peptide receptor, PTH1R, PPR, Pthr1 |
| MMRRC Submission |
041900-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4638 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110551153-110576213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110556141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 244
(L244P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006005]
[ENSMUST00000166716]
[ENSMUST00000196057]
[ENSMUST00000198865]
[ENSMUST00000199791]
[ENSMUST00000199862]
|
| AlphaFold |
P41593 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006005
AA Change: L244P
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492
AA Change: L244P
| Domain | Start | End | E-Value | Type |
|---|
|
HormR
|
104 |
179 |
1.28e-25 |
SMART |
|
Pfam:7tm_2
|
184 |
455 |
3.5e-89 |
PFAM |
|
low complexity region
|
509 |
525 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166716
AA Change: L244P
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492
AA Change: L244P
| Domain | Start | End | E-Value | Type |
|---|
|
HormR
|
104 |
179 |
1.28e-25 |
SMART |
|
Pfam:7tm_2
|
184 |
455 |
9.2e-89 |
PFAM |
|
low complexity region
|
509 |
525 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196057
|
| SMART Domains |
Protein: ENSMUSP00000143470
Gene: ENSMUSG00000032492
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
HormR
|
104 |
179 |
7.8e-28 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198865
AA Change: L244P
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492
AA Change: L244P
| Domain | Start | End | E-Value | Type |
|---|
|
HormR
|
104 |
179 |
1.28e-25 |
SMART |
|
Pfam:7tm_2
|
184 |
455 |
3.5e-89 |
PFAM |
|
low complexity region
|
509 |
525 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199791
|
| SMART Domains |
Protein: ENSMUSP00000142957
Gene: ENSMUSG00000032492
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199862
|
| SMART Domains |
Protein: ENSMUSP00000142672
Gene: ENSMUSG00000032492
| Domain | Start | End | E-Value | Type |
|---|
|
HormR
|
98 |
173 |
7.8e-28 |
SMART |
|
| Meta Mutation Damage Score |
0.7150 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
91% (40/44) |
| 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 family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice die in mid-gestation or shortly after birth depending on genetic background, are small in size, have short limbs, and accelerated differentiation of chondrocytes resulting in accelerated bone mineralization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
| Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
| Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
| Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
| Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
| Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
| Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
| Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
| Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
probably damaging |
Het |
|
| Other mutations in Pth1r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Pth1r
|
APN |
9 |
110,556,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01682:Pth1r
|
APN |
9 |
110,552,774 (GRCm39) |
splice site |
probably null |
|
|
IGL02004:Pth1r
|
APN |
9 |
110,571,376 (GRCm39) |
intron |
probably benign |
|
|
IGL02169:Pth1r
|
APN |
9 |
110,553,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02548:Pth1r
|
APN |
9 |
110,556,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03201:Pth1r
|
APN |
9 |
110,551,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Pth1r
|
UTSW |
9 |
110,556,618 (GRCm39) |
splice site |
probably null |
|
|
R0881:Pth1r
|
UTSW |
9 |
110,560,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1022:Pth1r
|
UTSW |
9 |
110,571,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1022:Pth1r
|
UTSW |
9 |
110,558,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1024:Pth1r
|
UTSW |
9 |
110,571,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1024:Pth1r
|
UTSW |
9 |
110,558,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2071:Pth1r
|
UTSW |
9 |
110,556,081 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2197:Pth1r
|
UTSW |
9 |
110,556,058 (GRCm39) |
unclassified |
probably benign |
|
|
R2206:Pth1r
|
UTSW |
9 |
110,552,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4184:Pth1r
|
UTSW |
9 |
110,571,300 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4590:Pth1r
|
UTSW |
9 |
110,551,339 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4693:Pth1r
|
UTSW |
9 |
110,560,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Pth1r
|
UTSW |
9 |
110,555,522 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6235:Pth1r
|
UTSW |
9 |
110,551,384 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6682:Pth1r
|
UTSW |
9 |
110,556,319 (GRCm39) |
splice site |
probably null |
|
|
R6683:Pth1r
|
UTSW |
9 |
110,556,319 (GRCm39) |
splice site |
probably null |
|
|
R6914:Pth1r
|
UTSW |
9 |
110,557,084 (GRCm39) |
splice site |
probably null |
|
|
R6942:Pth1r
|
UTSW |
9 |
110,557,084 (GRCm39) |
splice site |
probably null |
|
|
R7164:Pth1r
|
UTSW |
9 |
110,552,815 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7638:Pth1r
|
UTSW |
9 |
110,551,461 (GRCm39) |
missense |
probably benign |
|
|
R7883:Pth1r
|
UTSW |
9 |
110,560,626 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8966:Pth1r
|
UTSW |
9 |
110,554,229 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9168:Pth1r
|
UTSW |
9 |
110,556,204 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9585:Pth1r
|
UTSW |
9 |
110,573,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9773:Pth1r
|
UTSW |
9 |
110,556,233 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGCTGGCCTAAAGCTG -3'
(R):5'- TGCGTGATGTCCCCACTTAC -3'
Sequencing Primer
(F):5'- CTGGCCTAAAGCTGGAGGAG -3'
(R):5'- ATGTCCCCACTTACGGCGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation