Incidental Mutation 'R1548:Tshr'
ID |
172350 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tshr
|
Ensembl Gene |
ENSMUSG00000020963 |
Gene Name |
thyroid stimulating hormone receptor |
Synonyms |
hypothroid, pet, hyt |
MMRRC Submission |
039587-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R1548 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91500805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 279
(Y279H)
|
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: Y279H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021346 Gene: ENSMUSG00000020963 AA Change: Y279H
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 damaging
Transcript: ENSMUST00000221216
AA Change: Y177H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.8143 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
Validation Efficiency |
99% (69/70) |
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 |
A830018L16Rik |
A |
T |
1: 11,588,818 (GRCm39) |
R78S |
probably damaging |
Het |
Acad10 |
G |
C |
5: 121,764,104 (GRCm39) |
|
probably benign |
Het |
Acad10 |
G |
T |
5: 121,764,103 (GRCm39) |
|
probably benign |
Het |
Ang2 |
C |
A |
14: 51,432,990 (GRCm39) |
E131* |
probably null |
Het |
Ankfn1 |
T |
C |
11: 89,417,367 (GRCm39) |
N82D |
probably damaging |
Het |
Anks1b |
T |
C |
10: 89,885,847 (GRCm39) |
I181T |
possibly damaging |
Het |
Bcl2l12 |
C |
G |
7: 44,642,242 (GRCm39) |
G215R |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,194,194 (GRCm39) |
Y1044H |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,038,675 (GRCm39) |
F1172S |
probably damaging |
Het |
Cct8 |
A |
G |
16: 87,282,472 (GRCm39) |
I482T |
probably damaging |
Het |
Cfap74 |
C |
T |
4: 155,518,502 (GRCm39) |
T580I |
probably benign |
Het |
Cib1 |
A |
T |
7: 79,878,162 (GRCm39) |
Y105* |
probably null |
Het |
Cpa1 |
G |
A |
6: 30,642,334 (GRCm39) |
G245D |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,845,371 (GRCm39) |
V801A |
possibly damaging |
Het |
Ddx10 |
T |
C |
9: 53,060,861 (GRCm39) |
|
probably null |
Het |
Ddx4 |
T |
C |
13: 112,736,531 (GRCm39) |
N613S |
probably damaging |
Het |
Drd3 |
A |
G |
16: 43,641,704 (GRCm39) |
D340G |
probably benign |
Het |
E2f4 |
A |
G |
8: 106,031,320 (GRCm39) |
*411W |
probably null |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Foxp1 |
A |
T |
6: 98,922,381 (GRCm39) |
I450N |
probably damaging |
Het |
Ftdc1 |
A |
T |
16: 58,436,202 (GRCm39) |
D40E |
probably benign |
Het |
Gpr19 |
A |
G |
6: 134,847,047 (GRCm39) |
F175S |
possibly damaging |
Het |
Gpr21 |
C |
T |
2: 37,408,084 (GRCm39) |
T210M |
probably damaging |
Het |
Grhl2 |
C |
T |
15: 37,336,567 (GRCm39) |
A488V |
probably benign |
Het |
Hif3a |
T |
C |
7: 16,778,328 (GRCm39) |
T435A |
probably benign |
Het |
Hoxb4 |
C |
T |
11: 96,209,725 (GRCm39) |
R44* |
probably null |
Het |
Ifi47 |
A |
G |
11: 48,986,698 (GRCm39) |
D155G |
probably damaging |
Het |
Igdcc4 |
T |
C |
9: 65,042,509 (GRCm39) |
L142P |
probably benign |
Het |
Ints6 |
G |
A |
14: 62,951,141 (GRCm39) |
P296L |
probably damaging |
Het |
Itga3 |
A |
G |
11: 94,937,745 (GRCm39) |
|
probably null |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Krtap20-1 |
G |
A |
16: 88,812,277 (GRCm39) |
|
probably benign |
Het |
Lgals12 |
A |
T |
19: 7,581,677 (GRCm39) |
H50Q |
probably benign |
Het |
Lrp12 |
A |
G |
15: 39,735,902 (GRCm39) |
S696P |
probably damaging |
Het |
Lrp6 |
G |
A |
6: 134,436,392 (GRCm39) |
T1258I |
possibly damaging |
Het |
Meis2 |
C |
T |
2: 115,889,183 (GRCm39) |
D190N |
probably damaging |
Het |
Mir100hg |
T |
C |
9: 41,492,672 (GRCm39) |
L116P |
probably damaging |
Het |
Mon2 |
C |
T |
10: 122,871,912 (GRCm39) |
|
probably benign |
Het |
Muc6 |
A |
G |
7: 141,238,368 (GRCm39) |
|
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,379,064 (GRCm39) |
H1394R |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,079,028 (GRCm39) |
I929F |
probably damaging |
Het |
Nek6 |
T |
A |
2: 38,458,907 (GRCm39) |
Y141N |
probably damaging |
Het |
Notch4 |
T |
A |
17: 34,787,396 (GRCm39) |
C319S |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,957,525 (GRCm39) |
D285V |
probably benign |
Het |
Olfml1 |
T |
C |
7: 107,189,582 (GRCm39) |
S216P |
possibly damaging |
Het |
Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
Pfkfb2 |
G |
T |
1: 130,625,820 (GRCm39) |
H453Q |
probably benign |
Het |
Pigt |
C |
T |
2: 164,343,439 (GRCm39) |
T305I |
probably benign |
Het |
Plxnb1 |
C |
T |
9: 108,929,968 (GRCm39) |
L275F |
possibly damaging |
Het |
Ppm1d |
C |
T |
11: 85,230,431 (GRCm39) |
R350C |
probably damaging |
Het |
Prss1l |
G |
T |
6: 41,372,945 (GRCm39) |
L72F |
probably damaging |
Het |
Rassf1 |
C |
A |
9: 107,429,045 (GRCm39) |
P84T |
probably benign |
Het |
Rgl3 |
G |
T |
9: 21,892,002 (GRCm39) |
R361S |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,333,533 (GRCm39) |
R2914H |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,569,435 (GRCm39) |
C4956* |
probably null |
Het |
Scaper |
C |
T |
9: 55,723,954 (GRCm39) |
R668H |
probably damaging |
Het |
Spata6 |
T |
C |
4: 111,636,203 (GRCm39) |
F165L |
probably benign |
Het |
Tcirg1 |
A |
T |
19: 3,946,845 (GRCm39) |
W694R |
probably benign |
Het |
Tmem245 |
A |
T |
4: 56,906,233 (GRCm39) |
Y160* |
probably null |
Het |
Ttf1 |
A |
C |
2: 28,955,150 (GRCm39) |
K171N |
probably damaging |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Xdh |
A |
G |
17: 74,220,896 (GRCm39) |
V611A |
probably damaging |
Het |
Zfp142 |
G |
T |
1: 74,609,263 (GRCm39) |
H1408N |
probably 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 |
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 |
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'- GCAGAAAGGAACTTGTCACCTCCC -3'
(R):5'- TGCTCATGTGGATGCTTGCAGC -3'
Sequencing Primer
(F):5'- ATCTCAGAACCGTTTGACTGGAG -3'
(R):5'- GGATGCTTGCAGCTCTTTC -3'
|
Posted On |
2014-04-13 |