|Institutional Source||Beutler Lab|
|Gene Name||thyroid stimulating hormone receptor|
|Synonyms||pet, hyt, hypothroid|
|Is this an essential gene?||Possibly non essential (E-score: 0.286)|
|Stock #||R6986 (G1)|
|Chromosomal Location||91384563-91549808 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 91533957 bp|
|Amino Acid Change||Alanine to Valine at position 152 (A152V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152158 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021346] [ENSMUST00000186437] [ENSMUST00000221216]|
|Predicted Effect||possibly damaging
AA Change: A254V
PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: A254V
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: A152V
PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|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'- CCATTAATCTCAGAACCGTTTGAC -3'
(R):5'- GGATGCTTGCAGCTCTTTCC -3'
(F):5'- ATCTCAGAACCGTTTGACTGGAG -3'
(R):5'- ATGAATGACTCCATCTCCCATCATGG -3'