|Institutional Source||Beutler Lab|
|Gene Name||deiodinase, iodothyronine, type II|
|Is this an essential gene?||Probably non essential (E-score: 0.109)|
|Stock #||R0908 (G1)|
|Chromosomal Location||90724552-90738438 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 90729648 bp|
|Amino Acid Change||Cysteine to Serine at position 189 (C189S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081013 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000082432]|
|Predicted Effect||probably damaging
AA Change: C189S
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: C189S
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is highly expressed in brain, placenta and mammary gland. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. Knockout studies in mice suggest that this gene may play an important role in brown adipose tissue lipogenesis, auditory function, and bone formation. This protein is a selenoprotein containing the rare selenocysteine (Sec) amino acid at its active site, and may contain additional Sec residues. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display elevated thyroxine (T4) and thyroid-stimulating hormone levels, changes in the metabolism and excretion of iodothyronines, and impaired adaptive thermogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dio2||
(F):5'- AATTCTTCTCCAGCCAACTTCGGAC -3'
(R):5'- TCTTGACTTTGCCAGTGCAGAGC -3'
(F):5'- AGCCAACTTCGGACTTCTTGTAG -3'
(R):5'- GGTCAACTTTGGTTCAGCCAC -3'
|Posted On||Nov 08, 2013|