Incidental Mutation 'R8917:Tshr'
| ID |
695751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshr
|
| Ensembl Gene |
ENSMUSG00000020963 |
| Gene Name |
thyroid stimulating hormone receptor |
| Synonyms |
hypothroid, pet, hyt |
| MMRRC Submission |
068704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R8917 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 91468829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021343]
[ENSMUST00000021346]
[ENSMUST00000221216]
|
| AlphaFold |
P47750 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021343
|
| SMART Domains |
Protein: ENSMUSP00000021343
Gene: ENSMUSG00000020963
| 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
|
| SMART Domains |
Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610528J11Rik |
A |
G |
4: 118,386,490 (GRCm39) |
M1V |
probably null |
Het |
| Acss3 |
T |
C |
10: 106,773,124 (GRCm39) |
S621G |
probably benign |
Het |
| Adam1a |
C |
T |
5: 121,657,145 (GRCm39) |
R716Q |
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,535,902 (GRCm39) |
N177K |
probably damaging |
Het |
| Ankrd31 |
G |
A |
13: 96,969,212 (GRCm39) |
V950I |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,788,160 (GRCm39) |
Y922H |
probably damaging |
Het |
| Axin2 |
A |
T |
11: 108,822,341 (GRCm39) |
N298Y |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,303,882 (GRCm39) |
M2392K |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,974,202 (GRCm39) |
S123G |
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,676,993 (GRCm39) |
V63A |
probably damaging |
Het |
| Ctla2a |
A |
T |
13: 61,083,854 (GRCm39) |
M26K |
probably benign |
Het |
| Cts8 |
A |
T |
13: 61,396,882 (GRCm39) |
|
probably benign |
Het |
| Cyp4a30b |
C |
A |
4: 115,311,662 (GRCm39) |
S110* |
probably null |
Het |
| Eif2ak4 |
A |
G |
2: 118,287,617 (GRCm39) |
Y1195C |
probably damaging |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,578,360 (GRCm39) |
D401G |
probably benign |
Het |
| Fmo1 |
A |
G |
1: 162,663,773 (GRCm39) |
V252A |
probably benign |
Het |
| Furin |
T |
C |
7: 80,048,437 (GRCm39) |
K28E |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,270,428 (GRCm39) |
F713I |
probably damaging |
Het |
| Hyal6 |
T |
C |
6: 24,734,103 (GRCm39) |
L12P |
possibly damaging |
Het |
| Ido1 |
T |
C |
8: 25,081,523 (GRCm39) |
N144D |
probably benign |
Het |
| Igsf10 |
T |
A |
3: 59,226,888 (GRCm39) |
T2262S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,718,276 (GRCm39) |
F923S |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,386,928 (GRCm39) |
M200I |
probably damaging |
Het |
| Kctd15 |
A |
G |
7: 34,341,508 (GRCm39) |
Y140H |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,416,690 (GRCm39) |
I237N |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,905,455 (GRCm39) |
S152G |
possibly damaging |
Het |
| Lce1k |
C |
A |
3: 92,714,097 (GRCm39) |
C29F |
unknown |
Het |
| Map1a |
A |
G |
2: 121,131,791 (GRCm39) |
E869G |
possibly damaging |
Het |
| Mcmbp |
T |
C |
7: 128,300,281 (GRCm39) |
E576G |
probably benign |
Het |
| Mrps22 |
A |
G |
9: 98,476,163 (GRCm39) |
V231A |
probably benign |
Het |
| Myo1a |
C |
T |
10: 127,551,534 (GRCm39) |
L697F |
possibly damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,999,297 (GRCm39) |
V1291A |
probably benign |
Het |
| Nherf4 |
T |
A |
9: 44,160,141 (GRCm39) |
|
probably benign |
Het |
| Or9m1 |
A |
T |
2: 87,733,307 (GRCm39) |
S238T |
possibly damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,431 (GRCm39) |
T451A |
possibly damaging |
Het |
| Pi4ka |
C |
A |
16: 17,130,310 (GRCm39) |
W1032L |
|
Het |
| Pkhd1l1 |
T |
A |
15: 44,396,403 (GRCm39) |
I1975N |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,567,637 (GRCm39) |
M115T |
possibly damaging |
Het |
| Poldip2 |
G |
A |
11: 78,412,667 (GRCm39) |
R347Q |
probably damaging |
Het |
| Pramel18 |
G |
A |
4: 101,768,935 (GRCm39) |
V429M |
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,582,392 (GRCm39) |
Q1440* |
probably null |
Het |
| Rtn3 |
A |
T |
19: 7,434,105 (GRCm39) |
I629K |
possibly damaging |
Het |
| Selenov |
A |
G |
7: 27,987,728 (GRCm39) |
F278L |
probably damaging |
Het |
| Skor2 |
G |
A |
18: 76,948,504 (GRCm39) |
G742D |
probably damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,429 (GRCm39) |
P324S |
probably benign |
Het |
| Tbc1d14 |
A |
T |
5: 36,676,682 (GRCm39) |
I403N |
probably damaging |
Het |
| Tekt3 |
A |
T |
11: 62,978,052 (GRCm39) |
Q374L |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,645,332 (GRCm39) |
|
probably null |
Het |
| Thnsl2 |
T |
C |
6: 71,116,927 (GRCm39) |
D75G |
probably benign |
Het |
| Tnr |
A |
T |
1: 159,701,692 (GRCm39) |
K598* |
probably null |
Het |
| Uggt1 |
A |
G |
1: 36,185,735 (GRCm39) |
S1483P |
|
Het |
| Usp42 |
T |
C |
5: 143,701,695 (GRCm39) |
E776G |
|
Het |
| Vmn2r118 |
T |
C |
17: 55,917,216 (GRCm39) |
E432G |
possibly damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,697,433 (GRCm39) |
I830T |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,159 (GRCm39) |
E1464G |
probably damaging |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,305 (GRCm39) |
T646A |
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 |
|
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'- GCCAAACCACTGGAGGGTTT -3'
(R):5'- TACAGACACAGACACAGACACAG -3'
Sequencing Primer
(F):5'- AAACCACTGGAGGGTTTTTCTTTC -3'
(R):5'- ACACACACCCATAATAAAGAAGGAG -3'
|
| Posted On |
2022-01-31 |
Incidental Mutation