Incidental Mutation 'R7784:Tshr'
ID |
599458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tshr
|
Ensembl Gene |
ENSMUSG00000020963 |
Gene Name |
thyroid stimulating hormone receptor |
Synonyms |
hypothroid, pet, hyt |
MMRRC Submission |
045840-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.238)
|
Stock # |
R7784 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91472079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 143
(D143G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021343]
[ENSMUST00000021346]
[ENSMUST00000221216]
|
AlphaFold |
P47750 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021343
AA Change: D143G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000021343 Gene: ENSMUSG00000020963 AA Change: D143G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:LRR_5
|
53 |
143 |
1e-6 |
PFAM |
Pfam:LRR_5
|
137 |
228 |
3.8e-5 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021346
AA Change: D143G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000021346 Gene: ENSMUSG00000020963 AA Change: D143G
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: ENSMUST00000221216
AA Change: D41G
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
Meta Mutation Damage Score |
0.6573 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (66/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
A |
T |
5: 146,119,638 (GRCm39) |
|
probably null |
Het |
3425401B19Rik |
A |
T |
14: 32,381,797 (GRCm39) |
S1389R |
probably benign |
Het |
Abca9 |
A |
T |
11: 110,045,243 (GRCm39) |
C363* |
probably null |
Het |
Actbl2 |
T |
A |
13: 111,391,945 (GRCm39) |
N93K |
probably damaging |
Het |
Adamtsl3 |
T |
C |
7: 82,223,197 (GRCm39) |
Y993H |
probably damaging |
Het |
Adgrg1 |
G |
A |
8: 95,739,510 (GRCm39) |
W653* |
probably null |
Het |
Akap13 |
T |
A |
7: 75,260,076 (GRCm39) |
V97D |
probably benign |
Het |
Cacna1d |
T |
A |
14: 29,845,396 (GRCm39) |
D613V |
probably damaging |
Het |
Col10a1 |
C |
A |
10: 34,270,214 (GRCm39) |
P62H |
unknown |
Het |
Cpb2 |
A |
T |
14: 75,512,480 (GRCm39) |
N298Y |
probably damaging |
Het |
Ddc |
A |
G |
11: 11,789,396 (GRCm39) |
|
probably null |
Het |
Ddx6 |
T |
C |
9: 44,541,439 (GRCm39) |
|
probably null |
Het |
Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
Eps8 |
T |
A |
6: 137,476,585 (GRCm39) |
I605L |
probably benign |
Het |
Eps8l1 |
T |
C |
7: 4,475,121 (GRCm39) |
L304P |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,114,658 (GRCm39) |
I929F |
probably damaging |
Het |
Erc2 |
A |
T |
14: 27,620,551 (GRCm39) |
N393I |
probably damaging |
Het |
Fbxw25 |
C |
T |
9: 109,479,187 (GRCm39) |
D355N |
|
Het |
Ffar2 |
T |
C |
7: 30,518,683 (GRCm39) |
K286E |
probably benign |
Het |
Gabrd |
A |
G |
4: 155,473,389 (GRCm39) |
|
probably null |
Het |
Ganc |
G |
A |
2: 120,267,149 (GRCm39) |
W488* |
probably null |
Het |
Ifi207 |
T |
A |
1: 173,557,698 (GRCm39) |
M347L |
unknown |
Het |
Kat6b |
A |
T |
14: 21,710,909 (GRCm39) |
I619F |
probably damaging |
Het |
Kif26a |
A |
G |
12: 112,144,581 (GRCm39) |
R1612G |
possibly damaging |
Het |
Kifc3 |
A |
G |
8: 95,837,320 (GRCm39) |
|
probably null |
Het |
Krt39 |
A |
T |
11: 99,411,857 (GRCm39) |
C76* |
probably null |
Het |
Lcmt1 |
G |
T |
7: 123,000,718 (GRCm39) |
R84L |
probably benign |
Het |
Lrit1 |
A |
G |
14: 36,783,737 (GRCm39) |
Y355C |
probably benign |
Het |
Mad2l1 |
C |
A |
6: 66,512,397 (GRCm39) |
|
probably null |
Het |
Med23 |
C |
T |
10: 24,778,346 (GRCm39) |
T870M |
probably damaging |
Het |
Mrpl2 |
A |
G |
17: 46,959,517 (GRCm39) |
|
probably null |
Het |
Mtmr6 |
A |
G |
14: 60,537,894 (GRCm39) |
D593G |
probably benign |
Het |
Myo15b |
G |
A |
11: 115,752,166 (GRCm39) |
V683M |
|
Het |
Neb |
T |
A |
2: 52,125,500 (GRCm39) |
M506L |
|
Het |
Or12d13 |
T |
C |
17: 37,647,469 (GRCm39) |
Y218C |
probably benign |
Het |
Or12d13 |
A |
G |
17: 37,647,946 (GRCm39) |
F59S |
probably damaging |
Het |
Or2a20 |
T |
A |
6: 43,194,322 (GRCm39) |
H158Q |
possibly damaging |
Het |
Or9m1 |
G |
A |
2: 87,733,537 (GRCm39) |
T161I |
probably benign |
Het |
Pdzd8 |
A |
G |
19: 59,316,295 (GRCm39) |
F294L |
probably damaging |
Het |
Rabgap1 |
G |
A |
2: 37,377,544 (GRCm39) |
S347N |
possibly damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,044,201 (GRCm39) |
T350A |
|
Het |
Rbp3 |
A |
T |
14: 33,676,115 (GRCm39) |
H21L |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,212,881 (GRCm39) |
V1069F |
unknown |
Het |
Rtn4 |
T |
A |
11: 29,691,048 (GRCm39) |
L1113* |
probably null |
Het |
Ryr3 |
A |
G |
2: 112,606,040 (GRCm39) |
F2407L |
probably damaging |
Het |
Septin2 |
T |
A |
1: 93,425,166 (GRCm39) |
D107E |
probably damaging |
Het |
Septin4 |
A |
G |
11: 87,469,834 (GRCm39) |
T7A |
probably benign |
Het |
Slc34a3 |
T |
A |
2: 25,122,237 (GRCm39) |
I123F |
probably damaging |
Het |
Slc9a4 |
T |
C |
1: 40,639,936 (GRCm39) |
Y243H |
probably damaging |
Het |
Slco1a1 |
T |
A |
6: 141,889,114 (GRCm39) |
E66V |
probably damaging |
Het |
Slco1a7 |
C |
T |
6: 141,658,919 (GRCm39) |
|
probably null |
Het |
Sp140l2 |
T |
A |
1: 85,190,195 (GRCm39) |
|
probably null |
Het |
Spata33 |
A |
G |
8: 123,939,991 (GRCm39) |
R68G |
unknown |
Het |
Spta1 |
G |
A |
1: 174,030,017 (GRCm39) |
D928N |
probably damaging |
Het |
St8sia5 |
A |
G |
18: 77,342,246 (GRCm39) |
S319G |
probably benign |
Het |
Tmem208 |
A |
G |
8: 106,055,465 (GRCm39) |
D149G |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,193,171 (GRCm39) |
I583F |
probably damaging |
Het |
Trio |
C |
T |
15: 27,764,080 (GRCm39) |
V2015M |
probably damaging |
Het |
Tsc22d1 |
C |
T |
14: 76,654,141 (GRCm39) |
Q207* |
probably null |
Het |
Txlna |
C |
T |
4: 129,525,950 (GRCm39) |
R299H |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,176,789 (GRCm39) |
T1318S |
possibly damaging |
Het |
Utp14b |
A |
G |
1: 78,642,660 (GRCm39) |
K186R |
probably damaging |
Het |
Vars2 |
C |
T |
17: 35,969,050 (GRCm39) |
A884T |
possibly damaging |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp775 |
A |
G |
6: 48,596,183 (GRCm39) |
Q19R |
possibly damaging |
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 |
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'- GTACTGGTGTTAGCACTCGC -3'
(R):5'- ACAGGCCATCATTTCACTCATC -3'
Sequencing Primer
(F):5'- CCACAGTCATGACATTGAGTGG -3'
(R):5'- ATCCTTCAGCACAATTACCCTG -3'
|
Posted On |
2019-11-26 |