Incidental Mutation 'R6147:Tshr'
| ID |
488970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshr
|
| Ensembl Gene |
ENSMUSG00000020963 |
| Gene Name |
thyroid stimulating hormone receptor |
| Synonyms |
hypothroid, pet, hyt |
| MMRRC Submission |
044294-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R6147 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91505009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 649
(M649K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021346]
[ENSMUST00000186437]
[ENSMUST00000221216]
|
| AlphaFold |
P47750 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021346
AA Change: M649K
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: M649K
| 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
AA Change: M57K
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139632
Gene: ENSMUSG00000020963
AA Change: M57K
| 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: 99.8%
- 3x: 99.3%
- 10x: 97.1%
- 20x: 92.3%
|
| 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 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
C |
T |
1: 127,657,157 (GRCm39) |
|
probably benign |
Het |
| Acsf3 |
T |
A |
8: 123,508,213 (GRCm39) |
D236E |
probably damaging |
Het |
| Aqp1 |
G |
T |
6: 55,313,595 (GRCm39) |
E40D |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
| Arfip1 |
A |
G |
3: 84,436,485 (GRCm39) |
V97A |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,555,134 (GRCm39) |
Y165* |
probably null |
Het |
| Bclaf1 |
T |
A |
10: 20,199,171 (GRCm39) |
D189E |
possibly damaging |
Het |
| Camsap2 |
G |
A |
1: 136,273,138 (GRCm39) |
T13M |
probably damaging |
Het |
| Cblif |
G |
A |
19: 11,724,936 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
A |
9: 10,012,894 (GRCm39) |
Y297F |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 99,978,506 (GRCm39) |
C174Y |
probably damaging |
Het |
| Cntrl |
A |
C |
2: 35,055,745 (GRCm39) |
D1213A |
possibly damaging |
Het |
| Comtd1 |
C |
A |
14: 21,898,883 (GRCm39) |
A20S |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,796,056 (GRCm39) |
R1264W |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,777,294 (GRCm39) |
C180S |
probably benign |
Het |
| Ednra |
C |
T |
8: 78,393,951 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,858,566 (GRCm39) |
V3875A |
unknown |
Het |
| Ephb6 |
A |
T |
6: 41,593,715 (GRCm39) |
S533C |
probably damaging |
Het |
| Fndc1 |
A |
T |
17: 7,972,594 (GRCm39) |
|
probably null |
Het |
| Gm12185 |
A |
G |
11: 48,806,717 (GRCm39) |
I158T |
probably benign |
Het |
| Gm14325 |
A |
T |
2: 177,474,600 (GRCm39) |
C161S |
probably damaging |
Het |
| Ighv9-1 |
T |
A |
12: 114,057,840 (GRCm39) |
Q20L |
probably damaging |
Het |
| Khnyn |
G |
C |
14: 56,125,060 (GRCm39) |
S438T |
probably damaging |
Het |
| Krt9 |
T |
C |
11: 100,079,665 (GRCm39) |
S576G |
unknown |
Het |
| Lrriq4 |
A |
T |
3: 30,713,228 (GRCm39) |
N443I |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,268,374 (GRCm39) |
Y199C |
probably damaging |
Het |
| Map2k3 |
T |
A |
11: 60,840,776 (GRCm39) |
Y268* |
probably null |
Het |
| Men1 |
T |
A |
19: 6,387,272 (GRCm39) |
D248E |
probably damaging |
Het |
| Mfsd4b2 |
A |
T |
10: 39,797,573 (GRCm39) |
C261S |
probably benign |
Het |
| Mpeg1 |
T |
G |
19: 12,440,258 (GRCm39) |
I572S |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,113 (GRCm39) |
V204A |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,392,945 (GRCm39) |
C805* |
probably null |
Het |
| Nphs2 |
A |
T |
1: 156,146,296 (GRCm39) |
K91* |
probably null |
Het |
| Obox3 |
A |
G |
7: 15,359,926 (GRCm39) |
S248P |
probably damaging |
Het |
| Or12d17 |
T |
C |
17: 37,777,430 (GRCm39) |
I111T |
probably benign |
Het |
| Or5w19 |
C |
T |
2: 87,699,061 (GRCm39) |
T242I |
probably benign |
Het |
| Or8k22 |
A |
T |
2: 86,162,844 (GRCm39) |
N285K |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pan3 |
T |
C |
5: 147,485,093 (GRCm39) |
|
probably benign |
Het |
| Pate10 |
A |
G |
9: 35,653,528 (GRCm39) |
T111A |
possibly damaging |
Het |
| Pate10 |
A |
T |
9: 35,653,406 (GRCm39) |
Y70F |
possibly damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,453,779 (GRCm39) |
L53Q |
probably damaging |
Het |
| Pcdhb9 |
G |
T |
18: 37,535,494 (GRCm39) |
R496L |
possibly damaging |
Het |
| Peg10 |
C |
T |
6: 4,754,499 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,690,481 (GRCm39) |
K722E |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,630,302 (GRCm39) |
S489P |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,611,985 (GRCm39) |
V362A |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,426,093 (GRCm39) |
Y168C |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,483,695 (GRCm39) |
H264Y |
probably benign |
Het |
| Ranbp2 |
C |
A |
10: 58,315,250 (GRCm39) |
T1990K |
probably damaging |
Het |
| Rnf207 |
T |
C |
4: 152,400,112 (GRCm39) |
D192G |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,785,339 (GRCm39) |
F1784Y |
possibly damaging |
Het |
| Set |
T |
A |
2: 29,956,836 (GRCm39) |
S2T |
probably benign |
Het |
| Slc26a2 |
T |
A |
18: 61,334,757 (GRCm39) |
Y232F |
probably damaging |
Het |
| Sntb1 |
T |
A |
15: 55,511,406 (GRCm39) |
M393L |
probably benign |
Het |
| Stx16 |
A |
G |
2: 173,932,480 (GRCm39) |
T18A |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,684,216 (GRCm39) |
S585T |
possibly damaging |
Het |
| Sult2a7 |
T |
C |
7: 14,199,088 (GRCm39) |
E313G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,400,207 (GRCm39) |
K86R |
probably benign |
Het |
| Tom1 |
A |
T |
8: 75,781,320 (GRCm39) |
Q255L |
possibly damaging |
Het |
| Trbv4 |
A |
G |
6: 41,036,637 (GRCm39) |
Y54C |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,398 (GRCm39) |
Q400L |
probably damaging |
Het |
| Trim42 |
G |
T |
9: 97,245,382 (GRCm39) |
H473N |
probably benign |
Het |
| Tsbp1 |
T |
C |
17: 34,637,897 (GRCm39) |
S31P |
possibly damaging |
Het |
| Vmn2r11 |
C |
T |
5: 109,202,700 (GRCm39) |
V126M |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,930,177 (GRCm39) |
H3971Q |
probably benign |
Het |
| Wdr75 |
T |
A |
1: 45,858,698 (GRCm39) |
N622K |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,408,245 (GRCm39) |
Q242L |
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 |
|
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 |
|
R9687:Tshr
|
UTSW |
12 |
91,504,439 (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'- TGCTGCTCAATGTTGTTGCC -3'
(R):5'- CTGAATACCAGTGCTATTGTTGG -3'
Sequencing Primer
(F):5'- CTCAATGTTGTTGCCTTTGTTGTC -3'
(R):5'- AGACTCTCTGACCCTGATAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation