Incidental Mutation 'R1808:Tshr'
| ID |
203626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshr
|
| Ensembl Gene |
ENSMUSG00000020963 |
| Gene Name |
thyroid stimulating hormone receptor |
| Synonyms |
hypothroid, pet, hyt |
| MMRRC Submission |
039837-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R1808 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
91367767-91507283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91504090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 343
(F343L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021346]
[ENSMUST00000186437]
[ENSMUST00000221216]
|
| AlphaFold |
P47750 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021346
AA Change: F343L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021346
Gene: ENSMUSG00000020963
AA Change: F343L
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
G |
T |
5: 146,121,691 (GRCm39) |
Y69* |
probably null |
Het |
| 2310011J03Rik |
A |
G |
10: 80,156,015 (GRCm39) |
|
probably null |
Het |
| A2ml1 |
A |
C |
6: 128,520,262 (GRCm39) |
D1367E |
probably damaging |
Het |
| Adam6a |
C |
G |
12: 113,508,334 (GRCm39) |
L236V |
probably benign |
Het |
| Arf3 |
T |
C |
15: 98,638,954 (GRCm39) |
N101S |
probably benign |
Het |
| Arhgap42 |
T |
C |
9: 9,180,051 (GRCm39) |
E76G |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,052,573 (GRCm39) |
F382S |
probably damaging |
Het |
| Bud13 |
T |
A |
9: 46,199,705 (GRCm39) |
F355L |
probably benign |
Het |
| C2 |
G |
A |
17: 35,083,508 (GRCm39) |
P349S |
probably damaging |
Het |
| Cbl |
C |
A |
9: 44,075,526 (GRCm39) |
G373V |
probably damaging |
Het |
| Ccdc3 |
T |
A |
2: 5,142,896 (GRCm39) |
L51Q |
probably damaging |
Het |
| Ccdc34 |
T |
A |
2: 109,874,601 (GRCm39) |
M320K |
probably benign |
Het |
| Cntln |
A |
G |
4: 85,015,000 (GRCm39) |
E1097G |
probably damaging |
Het |
| Ctsc |
A |
C |
7: 87,948,750 (GRCm39) |
K195Q |
possibly damaging |
Het |
| Ctsf |
C |
T |
19: 4,906,562 (GRCm39) |
P163L |
probably benign |
Het |
| Dcxr |
A |
T |
11: 120,616,438 (GRCm39) |
|
probably null |
Het |
| Dgki |
T |
C |
6: 37,126,509 (GRCm39) |
E157G |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,903,160 (GRCm39) |
L933P |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,702,697 (GRCm39) |
L76P |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,515 (GRCm39) |
C192S |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,916,137 (GRCm39) |
D683E |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,143 (GRCm39) |
A1297T |
probably benign |
Het |
| Grik4 |
T |
C |
9: 42,540,322 (GRCm39) |
N286S |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,986,202 (GRCm39) |
E451V |
probably damaging |
Het |
| Hrh3 |
G |
A |
2: 179,741,577 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,455,695 (GRCm39) |
I152T |
probably damaging |
Het |
| Irgm1 |
A |
T |
11: 48,757,259 (GRCm39) |
V184D |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,258,826 (GRCm39) |
A791T |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,505,654 (GRCm39) |
T73A |
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,053,008 (GRCm39) |
T433A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,764,567 (GRCm39) |
D12G |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,954,698 (GRCm39) |
S74P |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,102,300 (GRCm39) |
E864* |
probably null |
Het |
| Nek1 |
A |
G |
8: 61,469,264 (GRCm39) |
D107G |
probably damaging |
Het |
| Npc1 |
T |
C |
18: 12,327,149 (GRCm39) |
N1149D |
probably damaging |
Het |
| Or14j6 |
T |
A |
17: 38,214,661 (GRCm39) |
S75T |
probably damaging |
Het |
| Or3a1b |
C |
A |
11: 74,012,257 (GRCm39) |
S47R |
probably damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,343 (GRCm39) |
V173A |
probably benign |
Het |
| Or5p79 |
A |
C |
7: 108,221,817 (GRCm39) |
K266T |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,948,142 (GRCm39) |
S150P |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,096,247 (GRCm39) |
Y287H |
probably damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,201,174 (GRCm39) |
V420A |
probably benign |
Het |
| Pdss1 |
G |
T |
2: 22,796,846 (GRCm39) |
E120* |
probably null |
Het |
| Pink1 |
A |
T |
4: 138,044,630 (GRCm39) |
V339E |
probably damaging |
Het |
| Pkn3 |
C |
T |
2: 29,969,663 (GRCm39) |
R58C |
probably damaging |
Het |
| Pm20d1 |
G |
A |
1: 131,730,165 (GRCm39) |
V235I |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,412 (GRCm39) |
I31T |
probably damaging |
Het |
| Rbms3 |
T |
C |
9: 116,651,894 (GRCm39) |
E152G |
probably damaging |
Het |
| Rfx1 |
A |
C |
8: 84,821,677 (GRCm39) |
Q804H |
probably damaging |
Het |
| Rpe |
G |
T |
1: 66,754,356 (GRCm39) |
V143L |
probably benign |
Het |
| Sap30l |
G |
T |
11: 57,700,771 (GRCm39) |
V142L |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,863,268 (GRCm39) |
Q973R |
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,154,856 (GRCm39) |
T110A |
probably damaging |
Het |
| Snrnp200 |
A |
T |
2: 127,060,947 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,060,948 (GRCm39) |
|
probably null |
Het |
| Spaca3 |
T |
A |
11: 80,758,511 (GRCm39) |
V158E |
probably damaging |
Het |
| Sprtn |
C |
A |
8: 125,629,770 (GRCm39) |
N354K |
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,863,101 (GRCm39) |
Y2166F |
possibly damaging |
Het |
| Tmem106c |
G |
A |
15: 97,866,548 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
G |
4: 63,918,168 (GRCm39) |
S1248P |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,555,698 (GRCm39) |
A30436S |
probably damaging |
Het |
| Ubxn2a |
A |
T |
12: 4,935,839 (GRCm39) |
M68K |
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,148,021 (GRCm39) |
V238A |
probably damaging |
Het |
| Urgcp |
C |
A |
11: 5,667,242 (GRCm39) |
L365F |
probably damaging |
Het |
| Vezt |
A |
T |
10: 93,826,026 (GRCm39) |
D328E |
probably damaging |
Het |
| Vmn1r168 |
G |
T |
7: 23,240,184 (GRCm39) |
V14L |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,792,205 (GRCm39) |
F2158L |
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 |
|
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'- TAAGCAATCGGTGACTCGTCTC -3'
(R):5'- TCAGGAACCTGTAGCCCATG -3'
Sequencing Primer
(F):5'- AATCGGTGACTCGTCTCTGCTAC -3'
(R):5'- TCACAGGGGTTAAACTCGTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation