Incidental Mutation 'R6884:Tshr'
ID |
536859 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tshr
|
Ensembl Gene |
ENSMUSG00000020963 |
Gene Name |
thyroid stimulating hormone receptor |
Synonyms |
hypothroid, pet, hyt |
MMRRC Submission |
044979-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R6884 (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 91504876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 13
(Y13H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021346]
[ENSMUST00000186437]
[ENSMUST00000221216]
|
AlphaFold |
P47750 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021346
AA Change: Y605H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021346 Gene: ENSMUSG00000020963 AA Change: Y605H
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 damaging
Transcript: ENSMUST00000186437
AA Change: Y13H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139632 Gene: ENSMUSG00000020963 AA Change: Y13H
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: 99.5%
- 20x: 98.3%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
G |
1: 74,323,407 (GRCm39) |
|
probably benign |
Het |
Abca5 |
C |
T |
11: 110,220,043 (GRCm39) |
V8M |
probably damaging |
Het |
Ahnak2 |
A |
T |
12: 112,741,863 (GRCm39) |
D736E |
possibly damaging |
Het |
Brpf3 |
A |
G |
17: 29,050,324 (GRCm39) |
D1072G |
probably benign |
Het |
Cacna1i |
C |
T |
15: 80,259,010 (GRCm39) |
R1240C |
probably damaging |
Het |
Ccdc40 |
A |
T |
11: 119,133,565 (GRCm39) |
E568D |
possibly damaging |
Het |
Col12a1 |
C |
T |
9: 79,547,091 (GRCm39) |
G2247E |
possibly damaging |
Het |
Dapk3 |
T |
A |
10: 81,027,588 (GRCm39) |
|
probably null |
Het |
Dcaf13 |
T |
C |
15: 38,986,635 (GRCm39) |
W136R |
probably damaging |
Het |
Dip2a |
C |
A |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
Eif3c |
T |
C |
7: 126,156,051 (GRCm39) |
D473G |
probably benign |
Het |
Erich2 |
G |
A |
2: 70,339,505 (GRCm39) |
R20H |
possibly damaging |
Het |
Gcnt7 |
T |
C |
2: 172,296,125 (GRCm39) |
N233S |
probably damaging |
Het |
Gdpd4 |
G |
T |
7: 97,621,382 (GRCm39) |
L208F |
probably damaging |
Het |
Gm10269 |
T |
A |
18: 20,815,932 (GRCm39) |
Q30L |
possibly damaging |
Het |
Gm7298 |
A |
T |
6: 121,737,480 (GRCm39) |
I295F |
possibly damaging |
Het |
Htr7 |
A |
G |
19: 35,941,779 (GRCm39) |
|
probably null |
Het |
Ing1 |
A |
G |
8: 11,611,916 (GRCm39) |
Y118C |
probably damaging |
Het |
Krtap16-1 |
C |
T |
11: 99,877,284 (GRCm39) |
W40* |
probably null |
Het |
Krtap26-1 |
A |
T |
16: 88,444,467 (GRCm39) |
D51E |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lrp1 |
T |
A |
10: 127,394,986 (GRCm39) |
Q2513L |
probably benign |
Het |
Morf4l1 |
A |
T |
9: 89,976,532 (GRCm39) |
N265K |
probably damaging |
Het |
Mpp2 |
T |
C |
11: 101,952,904 (GRCm39) |
D299G |
probably benign |
Het |
Mtcl1 |
C |
T |
17: 66,745,197 (GRCm39) |
G55R |
probably damaging |
Het |
Myb |
T |
A |
10: 21,028,431 (GRCm39) |
K144I |
probably damaging |
Het |
Myo18a |
T |
C |
11: 77,709,875 (GRCm39) |
I587T |
possibly damaging |
Het |
Nr2c2 |
A |
G |
6: 92,135,374 (GRCm39) |
S288G |
probably benign |
Het |
Obscn |
A |
G |
11: 58,969,128 (GRCm39) |
Y2700H |
probably damaging |
Het |
Or2z9 |
T |
C |
8: 72,854,345 (GRCm39) |
V247A |
probably benign |
Het |
Or6c3 |
T |
A |
10: 129,309,023 (GRCm39) |
F154Y |
probably damaging |
Het |
Pde6b |
A |
G |
5: 108,536,574 (GRCm39) |
D90G |
probably damaging |
Het |
Pigo |
A |
G |
4: 43,022,627 (GRCm39) |
F315L |
possibly damaging |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Ret |
T |
C |
6: 118,132,362 (GRCm39) |
D1026G |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,303,096 (GRCm39) |
Q143L |
probably benign |
Het |
Rubcnl |
A |
G |
14: 75,272,910 (GRCm39) |
E210G |
probably benign |
Het |
Serpina1b |
T |
A |
12: 103,698,712 (GRCm39) |
T46S |
probably benign |
Het |
Serpinb9e |
A |
T |
13: 33,435,609 (GRCm39) |
H14L |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,059,652 (GRCm39) |
S1003P |
possibly damaging |
Het |
Slc25a25 |
A |
C |
2: 32,310,674 (GRCm39) |
V168G |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,238,726 (GRCm39) |
T261A |
possibly damaging |
Het |
Spocd1 |
T |
C |
4: 129,849,197 (GRCm39) |
|
probably benign |
Het |
Tmem222 |
A |
T |
4: 132,995,514 (GRCm39) |
Y178N |
probably damaging |
Het |
Top1mt |
C |
T |
15: 75,535,893 (GRCm39) |
E470K |
probably benign |
Het |
Traj42 |
T |
C |
14: 54,413,290 (GRCm39) |
|
probably benign |
Het |
Uvssa |
A |
G |
5: 33,566,461 (GRCm39) |
|
probably null |
Het |
Vmn1r28 |
G |
A |
6: 58,242,633 (GRCm39) |
V159I |
probably benign |
Het |
Vmn2r73 |
T |
A |
7: 85,507,213 (GRCm39) |
T700S |
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 |
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'- ATAGGAAGATCCGCCTCAGG -3'
(R):5'- ACGGATTGGCACAGGAGTTG -3'
Sequencing Primer
(F):5'- TACACCATCATGGCTGGGG -3'
(R):5'- AGAACCAACAAGATTTTGGAGTTAG -3'
|
Posted On |
2018-10-18 |