|Institutional Source||Beutler Lab|
|Gene Name||NADPH oxidase 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.402)|
|Stock #||R6912 (G1)|
|Chromosomal Location||3635240-3696261 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 3685923 bp|
|Amino Acid Change||Serine to Proline at position 143 (S143P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000111466 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000115800]|
|Predicted Effect||probably damaging
AA Change: S143P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S143P
|Meta Mutation Damage Score||0.4403|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: This gene encodes a member of the NOX family of NADPH oxidases. These enzymes catalyze the transfer of electrons from NADPH to molecular oxygen to produce superoxide and other reactive oxygen species (ROS). The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia, which are crystalline structures of the inner ear involved in the perception of gravity and linear acceleration. In mouse mutations of this gene lead to the absence of otoconia and vestibular dysfunction. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous mutants bilaterally lack otoliths in otherwise normal ears and display impaired swimming ability, motor capabilities, and vestibular responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nox3||
(F):5'- TTGGCAGAAACCTCTTTTATCCAG -3'
(R):5'- TTCAAGACACTGGGAGAGATGC -3'
(F):5'- TTATCCAGCTCTTTTATGTGAAGC -3'
(R):5'- AATTCCTTGTAGACTGCCAGAGC -3'