|Institutional Source||Beutler Lab|
|Gene Name||ATPase, Na+/K+ transporting, beta 3 polypeptide|
|Is this an essential gene?||Probably essential (E-score: 0.860)|
|Stock #||R0164 (G1)|
|Chromosomal Location||96332655-96364442 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 96338709 bp|
|Amino Acid Change||Isoleucine to Valine at position 178 (I178V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034983 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034983]|
|Predicted Effect||possibly damaging
AA Change: I178V
PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: I178V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1876|
|Coding Region Coverage||
|Validation Efficiency||98% (85/87)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp1b3||
(F):5'- ACGACACCTGGGGTTGTAATGC -3'
(R):5'- GCTTTGTTACCACCAGAAGACCACG -3'
(F):5'- GATCACCCTAGAAAGCCTAGTG -3'
(R):5'- gggagtggtgatgcacag -3'