|Institutional Source||Beutler Lab|
|Gene Name||thyroid stimulating hormone receptor|
|Synonyms||pet, hyt, hypothroid|
|Essential gene?||Probably non essential (E-score: 0.242)|
|Stock #||R9687 (G1)|
|Chromosomal Location||91384563-91549808 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 91537665 bp (GRCm38)|
|Amino Acid Change||Alanine to Glutamic Acid at position 459 (A459E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021346 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021346] [ENSMUST00000186437] [ENSMUST00000221216]|
AA Change: A459E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A459E
|Coding Region Coverage||
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||
|Other mutations in Tshr||
(F):5'- GACGAGTTTAACCCCTGTGAAG -3'
(R):5'- TGAGGCGGATCTTCCTATCC -3'
(F):5'- CCCTGTGAAGATATCATGGGCTAC -3'
(R):5'- TTCCTATCCAGGCGCATGG -3'