Incidental Mutation 'R9488:Tshr'
ID |
716766 |
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 # |
R9488 (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 C
at 91504589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 509
(V509A)
|
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: V509A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021346 Gene: ENSMUSG00000020963 AA Change: V509A
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: 99.6%
- 20x: 98.9%
|
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 |
4930433I11Rik |
A |
T |
7: 40,643,212 (GRCm39) |
I294L |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,589,343 (GRCm39) |
K187N |
probably damaging |
Het |
Arhgap40 |
C |
T |
2: 158,391,571 (GRCm39) |
T631M |
possibly damaging |
Het |
Arpin |
T |
C |
7: 79,584,979 (GRCm39) |
Y5C |
probably damaging |
Het |
B020011L13Rik |
A |
G |
1: 117,728,724 (GRCm39) |
Y77C |
|
Het |
Cdk17 |
A |
G |
10: 93,044,066 (GRCm39) |
K2E |
probably damaging |
Het |
Cdk18 |
A |
G |
1: 132,049,260 (GRCm39) |
F86L |
probably benign |
Het |
Cfap418 |
A |
G |
4: 10,893,271 (GRCm39) |
D130G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,659,532 (GRCm39) |
T775A |
probably damaging |
Het |
Clvs2 |
T |
A |
10: 33,389,301 (GRCm39) |
D313V |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,741,788 (GRCm39) |
Y2377C |
probably damaging |
Het |
Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,377,218 (GRCm39) |
R1668G |
probably benign |
Het |
Eif2d |
T |
A |
1: 131,082,962 (GRCm39) |
V102E |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,631,337 (GRCm39) |
V210A |
probably damaging |
Het |
Galntl5 |
A |
G |
5: 25,415,437 (GRCm39) |
R323G |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,904,533 (GRCm39) |
T129A |
probably benign |
Het |
Gm572 |
A |
G |
4: 148,752,913 (GRCm39) |
H264R |
possibly damaging |
Het |
Hnrnpll |
T |
C |
17: 80,369,385 (GRCm39) |
T13A |
unknown |
Het |
Ighv7-4 |
T |
C |
12: 114,186,619 (GRCm39) |
Y51C |
probably damaging |
Het |
Irag2 |
G |
A |
6: 145,113,753 (GRCm39) |
R307Q |
probably damaging |
Het |
Jam2 |
A |
G |
16: 84,619,676 (GRCm39) |
D289G |
probably damaging |
Het |
Krt27 |
A |
G |
11: 99,239,535 (GRCm39) |
|
probably null |
Het |
Lama5 |
T |
C |
2: 179,823,234 (GRCm39) |
N2704S |
possibly damaging |
Het |
Lhx8 |
A |
T |
3: 154,033,764 (GRCm39) |
S70T |
possibly damaging |
Het |
Lmo7 |
C |
A |
14: 102,122,783 (GRCm39) |
T324N |
possibly damaging |
Het |
Man2a1 |
A |
G |
17: 65,040,734 (GRCm39) |
T907A |
possibly damaging |
Het |
Map3k4 |
C |
T |
17: 12,489,860 (GRCm39) |
A524T |
probably damaging |
Het |
Mga |
C |
T |
2: 119,795,304 (GRCm39) |
A2996V |
possibly damaging |
Het |
Mybpc1 |
A |
T |
10: 88,379,624 (GRCm39) |
M625K |
possibly damaging |
Het |
Ncald |
T |
A |
15: 37,372,369 (GRCm39) |
N159Y |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,527,866 (GRCm39) |
T832A |
possibly damaging |
Het |
P2rx5 |
T |
A |
11: 73,056,427 (GRCm39) |
I117N |
|
Het |
Pcdhb3 |
C |
A |
18: 37,435,416 (GRCm39) |
R461S |
possibly damaging |
Het |
Polr1b |
T |
C |
2: 128,967,417 (GRCm39) |
S937P |
probably damaging |
Het |
Prep |
C |
A |
10: 44,996,807 (GRCm39) |
Q362K |
|
Het |
Prg4 |
T |
C |
1: 150,327,024 (GRCm39) |
M342V |
probably benign |
Het |
Prr14 |
A |
T |
7: 127,073,687 (GRCm39) |
T184S |
possibly damaging |
Het |
Prss58 |
A |
G |
6: 40,874,382 (GRCm39) |
I98T |
probably benign |
Het |
Pum3 |
T |
C |
19: 27,394,188 (GRCm39) |
T361A |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
Sema4c |
A |
G |
1: 36,591,067 (GRCm39) |
V424A |
probably benign |
Het |
Sema6a |
A |
T |
18: 47,437,216 (GRCm39) |
I58N |
probably damaging |
Het |
Slc13a3 |
T |
A |
2: 165,250,851 (GRCm39) |
Y506F |
probably damaging |
Het |
Slc15a2 |
A |
G |
16: 36,579,651 (GRCm39) |
V365A |
probably benign |
Het |
Slc39a5 |
G |
A |
10: 128,233,628 (GRCm39) |
L290F |
probably damaging |
Het |
Spata31f1a |
A |
G |
4: 42,850,560 (GRCm39) |
V532A |
probably benign |
Het |
Taf6l |
T |
C |
19: 8,759,436 (GRCm39) |
T161A |
probably benign |
Het |
Tbl2 |
T |
A |
5: 135,187,471 (GRCm39) |
C243S |
probably benign |
Het |
Tet2 |
A |
T |
3: 133,193,103 (GRCm39) |
S444T |
probably benign |
Het |
Thoc1 |
C |
T |
18: 9,992,168 (GRCm39) |
L499F |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,913,942 (GRCm39) |
V1290A |
probably damaging |
Het |
Tnpo1 |
T |
C |
13: 98,990,003 (GRCm39) |
D716G |
probably damaging |
Het |
Tpp2 |
A |
T |
1: 44,041,272 (GRCm39) |
K1236N |
probably benign |
Het |
U2surp |
T |
C |
9: 95,356,535 (GRCm39) |
T775A |
|
Het |
Ubap2l |
T |
C |
3: 89,928,656 (GRCm39) |
T486A |
probably benign |
Het |
Usp28 |
C |
A |
9: 48,935,288 (GRCm39) |
P457T |
probably damaging |
Het |
Usp44 |
A |
G |
10: 93,682,851 (GRCm39) |
I387V |
possibly damaging |
Het |
Vmn1r225 |
A |
G |
17: 20,722,793 (GRCm39) |
D78G |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,447,880 (GRCm39) |
M537T |
possibly damaging |
Het |
Wdr6 |
G |
A |
9: 108,453,182 (GRCm39) |
R234C |
probably damaging |
Het |
Zfp1005 |
G |
A |
2: 150,110,477 (GRCm39) |
G389D |
unknown |
Het |
Zfp949 |
C |
A |
9: 88,452,182 (GRCm39) |
T584N |
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 |
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'- GGTTCCTCATGTGCAACTTG -3'
(R):5'- AGGACAATGTATGCGAGTGC -3'
Sequencing Primer
(F):5'- GCAACTTGGCCTTTGCAG -3'
(R):5'- TCCATTGGCAGGCAGATG -3'
|
Posted On |
2022-07-18 |