|Institutional Source||Beutler Lab|
|Gene Name||ATPase, H+ transporting, lysosomal V1 subunit B1|
|Synonyms||Atp6b1, Vpp-3, D630039P21Rik, lysosomal 56/58kDa, Vpp3, D630030L16Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0391 (G1)|
|Chromosomal Location||83742990-83758855 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 83756921 bp (GRCm38)|
|Amino Acid Change||Histidine to Arginine at position 378 (H378R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006431 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000205763]|
AA Change: H378R
PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: H378R
|Meta Mutation Damage Score||0.4888|
|Coding Region Coverage||
|Validation Efficiency||97% (97/100)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation show impaired urinary acidification with a more severe metabolic acidosis and inappropriately alkaline urine after oral acid challenge. However, contrary to expectation, neither hearing nor inner ear morphology areimpaired. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp6v1b1||
(F):5'- CCATGCCTAATGATGGTAGCCCC -3'
(R):5'- CTAGCTGTGAAGCACAGGCTCC -3'
(F):5'- TGATGGTAGCCCCCCACC -3'
(R):5'- TTTAACTTTGGGCTGGCCTC -3'