|Institutional Source||Beutler Lab|
|Gene Name||dual oxidase 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0378 (G1)|
|Chromosomal Location||122279247-122298165 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 122284583 bp|
|Amino Acid Change||Valine to Leucine at position 1138 (V1138L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050314 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053734]|
|Predicted Effect||probably benign
AA Change: V1138L
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V1138L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0660|
|Coding Region Coverage||
|Validation Efficiency||95% (40/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation fail to breed and are congenitally hypothyroid (low T4, high TSH), dwarf, and hearing impaired. Anterior pituitaries are dysplastic. Cochlear defects include delayed formation of the inner sulcus and tunnel of Corti and a thickened tectorial membrane. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Duox2||
(F):5'- ACCTTACAGCTTCTCCATGAGGGAC -3'
(R):5'- CAGACTATGGCTTTGCCTCACCAC -3'
(F):5'- TTCTCCATGAGGGACAGAGC -3'
(R):5'- ATGCCGCTGTGGACTTC -3'