Incidental Mutation 'R9687:Tshr'
| ID |
728928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshr
|
| Ensembl Gene |
ENSMUSG00000020963 |
| Gene Name |
thyroid stimulating hormone receptor |
| Synonyms |
hypothroid, pet, hyt |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R9687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 91504439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 459
(A459E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021346]
[ENSMUST00000186437]
[ENSMUST00000221216]
|
| AlphaFold |
P47750 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021346
AA Change: A459E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: A459E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:LRR_5
|
53 |
153 |
9.5e-7 |
PFAM |
|
Pfam:LRR_5
|
148 |
244 |
5.1e-5 |
PFAM |
|
Pfam:7tm_1
|
431 |
678 |
2.6e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186437
|
| SMART Domains |
Protein: ENSMUSP00000139632
Gene: ENSMUSG00000020963
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
1 |
86 |
6.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221216
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mutations in this gene exhibit profound hypothyroidism, developmental and growth retardation, impaired hearing with cochlear defects, and infertility. One mutation results in high postweaning mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,249 (GRCm39) |
L446P |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,578,889 (GRCm39) |
T927A |
probably benign |
Het |
| Abraxas2 |
A |
G |
7: 132,482,577 (GRCm39) |
T258A |
probably benign |
Het |
| Akna |
A |
T |
4: 63,292,674 (GRCm39) |
C1078* |
probably null |
Het |
| Arhgap24 |
T |
A |
5: 102,994,022 (GRCm39) |
F34L |
probably benign |
Het |
| Cpa5 |
C |
T |
6: 30,614,041 (GRCm39) |
T61I |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,982,601 (GRCm39) |
*654W |
probably null |
Het |
| Dchs1 |
C |
A |
7: 105,407,191 (GRCm39) |
R2134L |
probably damaging |
Het |
| Dcps |
T |
C |
9: 35,035,978 (GRCm39) |
N303D |
probably damaging |
Het |
| Ddhd1 |
C |
T |
14: 45,848,190 (GRCm39) |
E527K |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,425,978 (GRCm39) |
M174K |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Entrep1 |
A |
G |
19: 23,957,029 (GRCm39) |
I327T |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,911,361 (GRCm39) |
Y396H |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,316,494 (GRCm39) |
I293T |
|
Het |
| Gcfc2 |
T |
A |
6: 81,918,323 (GRCm39) |
S338T |
probably damaging |
Het |
| Gm10272 |
T |
C |
10: 77,542,764 (GRCm39) |
V102A |
possibly damaging |
Het |
| Gm11110 |
T |
C |
17: 57,410,439 (GRCm39) |
T20A |
unknown |
Het |
| Gna14 |
G |
A |
19: 16,582,350 (GRCm39) |
R206Q |
|
Het |
| Gpm6a |
T |
C |
8: 55,503,209 (GRCm39) |
Y153H |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| H2-M10.6 |
G |
A |
17: 37,125,147 (GRCm39) |
V313I |
probably benign |
Het |
| Igkv8-19 |
T |
C |
6: 70,318,005 (GRCm39) |
I74V |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,428,546 (GRCm39) |
L138P |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,143,625 (GRCm39) |
E1293G |
probably damaging |
Het |
| Lrp1 |
A |
C |
10: 127,402,562 (GRCm39) |
L2203R |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,806 (GRCm39) |
D35G |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,458,769 (GRCm39) |
D184V |
|
Het |
| Ncdn |
G |
A |
4: 126,642,467 (GRCm39) |
R397W |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,260,193 (GRCm39) |
I519N |
possibly damaging |
Het |
| Obsl1 |
A |
G |
1: 75,479,670 (GRCm39) |
V575A |
probably damaging |
Het |
| Or2y15 |
T |
C |
11: 49,350,518 (GRCm39) |
F4S |
probably benign |
Het |
| Or5m8 |
G |
T |
2: 85,822,220 (GRCm39) |
V20L |
probably benign |
Het |
| Or7a35 |
T |
A |
10: 78,853,843 (GRCm39) |
I229N |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,247,598 (GRCm39) |
Y747H |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,711,036 (GRCm39) |
D93V |
probably damaging |
Het |
| Ppef2 |
T |
A |
5: 92,386,746 (GRCm39) |
D397V |
probably benign |
Het |
| Ppfia4 |
G |
A |
1: 134,245,694 (GRCm39) |
T620I |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 4,905,978 (GRCm39) |
S178P |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
| Pxk |
A |
G |
14: 8,151,567 (GRCm38) |
I461V |
possibly damaging |
Het |
| Rab18 |
T |
A |
18: 6,784,622 (GRCm39) |
N104K |
probably benign |
Het |
| Sars1 |
A |
G |
3: 108,343,221 (GRCm39) |
L90P |
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,221,410 (GRCm39) |
I299N |
unknown |
Het |
| Sh3bp2 |
C |
T |
5: 34,716,977 (GRCm39) |
P463S |
probably benign |
Het |
| Slc12a3 |
A |
G |
8: 95,075,208 (GRCm39) |
N734S |
possibly damaging |
Het |
| Slc12a7 |
G |
T |
13: 73,938,796 (GRCm39) |
R191L |
probably damaging |
Het |
| Slc7a12 |
A |
G |
3: 14,545,960 (GRCm39) |
Y35C |
possibly damaging |
Het |
| Spmip2 |
G |
A |
3: 79,337,299 (GRCm39) |
D36N |
possibly damaging |
Het |
| Susd4 |
A |
G |
1: 182,722,762 (GRCm39) |
|
probably null |
Het |
| Taar7f |
G |
A |
10: 23,925,727 (GRCm39) |
R107K |
probably benign |
Het |
| Tarm1 |
T |
C |
7: 3,544,457 (GRCm39) |
T237A |
probably benign |
Het |
| Tubgcp5 |
G |
T |
7: 55,475,327 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
C |
4: 43,174,920 (GRCm39) |
V1916A |
unknown |
Het |
| Unc45b |
A |
G |
11: 82,810,562 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,604 (GRCm39) |
Y264* |
probably null |
Het |
| Vmn2r109 |
G |
T |
17: 20,775,332 (GRCm39) |
Q132K |
|
Het |
| Zbtb20 |
A |
G |
16: 43,430,160 (GRCm39) |
S151G |
possibly damaging |
Het |
| Zbtb22 |
A |
C |
17: 34,136,850 (GRCm39) |
T332P |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,281 (GRCm39) |
D1104G |
probably damaging |
Het |
| Zfp748 |
A |
G |
13: 67,690,471 (GRCm39) |
V263A |
probably benign |
Het |
| Zhx3 |
A |
C |
2: 160,623,678 (GRCm39) |
V163G |
probably benign |
Het |
|
| Other mutations in Tshr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00647:Tshr
|
APN |
12 |
91,504,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01503:Tshr
|
APN |
12 |
91,478,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Tshr
|
APN |
12 |
91,486,077 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02109:Tshr
|
APN |
12 |
91,504,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02199:Tshr
|
APN |
12 |
91,505,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02439:Tshr
|
APN |
12 |
91,504,321 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02696:Tshr
|
APN |
12 |
91,460,103 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03170:Tshr
|
APN |
12 |
91,504,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03208:Tshr
|
APN |
12 |
91,500,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
freckle
|
UTSW |
12 |
91,505,000 (GRCm39) |
nonsense |
probably null |
|
|
R0067_Tshr_655
|
UTSW |
12 |
91,472,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0017:Tshr
|
UTSW |
12 |
91,504,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0017:Tshr
|
UTSW |
12 |
91,504,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0067:Tshr
|
UTSW |
12 |
91,472,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0419:Tshr
|
UTSW |
12 |
91,504,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0658:Tshr
|
UTSW |
12 |
91,505,000 (GRCm39) |
nonsense |
probably null |
|
|
R0724:Tshr
|
UTSW |
12 |
91,505,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Tshr
|
UTSW |
12 |
91,504,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1188:Tshr
|
UTSW |
12 |
91,468,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1548:Tshr
|
UTSW |
12 |
91,500,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Tshr
|
UTSW |
12 |
91,504,115 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1808:Tshr
|
UTSW |
12 |
91,504,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1934:Tshr
|
UTSW |
12 |
91,503,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3980:Tshr
|
UTSW |
12 |
91,504,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4008:Tshr
|
UTSW |
12 |
91,504,268 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4828:Tshr
|
UTSW |
12 |
91,504,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Tshr
|
UTSW |
12 |
91,367,962 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4958:Tshr
|
UTSW |
12 |
91,504,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:Tshr
|
UTSW |
12 |
91,503,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5949:Tshr
|
UTSW |
12 |
91,503,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Tshr
|
UTSW |
12 |
91,505,008 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6147:Tshr
|
UTSW |
12 |
91,505,009 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6454:Tshr
|
UTSW |
12 |
91,505,323 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6572:Tshr
|
UTSW |
12 |
91,505,134 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6884:Tshr
|
UTSW |
12 |
91,504,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Tshr
|
UTSW |
12 |
91,500,731 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7403:Tshr
|
UTSW |
12 |
91,464,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7691:Tshr
|
UTSW |
12 |
91,464,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7741:Tshr
|
UTSW |
12 |
91,500,743 (GRCm39) |
nonsense |
probably null |
|
|
R7769:Tshr
|
UTSW |
12 |
91,505,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Tshr
|
UTSW |
12 |
91,472,079 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7934:Tshr
|
UTSW |
12 |
91,478,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8060:Tshr
|
UTSW |
12 |
91,505,134 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8168:Tshr
|
UTSW |
12 |
91,478,739 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8552:Tshr
|
UTSW |
12 |
91,504,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8762:Tshr
|
UTSW |
12 |
91,504,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8917:Tshr
|
UTSW |
12 |
91,468,829 (GRCm39) |
intron |
probably benign |
|
|
R8918:Tshr
|
UTSW |
12 |
91,504,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8945:Tshr
|
UTSW |
12 |
91,504,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Tshr
|
UTSW |
12 |
91,504,548 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9056:Tshr
|
UTSW |
12 |
91,474,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Tshr
|
UTSW |
12 |
91,478,737 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9126:Tshr
|
UTSW |
12 |
91,503,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9282:Tshr
|
UTSW |
12 |
91,474,518 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9488:Tshr
|
UTSW |
12 |
91,504,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Tshr
|
UTSW |
12 |
91,504,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Tshr
|
UTSW |
12 |
91,504,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tshr
|
UTSW |
12 |
91,505,265 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACGAGTTTAACCCCTGTGAAG -3'
(R):5'- TGAGGCGGATCTTCCTATCC -3'
Sequencing Primer
(F):5'- CCCTGTGAAGATATCATGGGCTAC -3'
(R):5'- TTCCTATCCAGGCGCATGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation