|Institutional Source||Beutler Lab|
|Gene Name||ATPase, H+ transporting, lysosomal V1 subunit B2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8168 (G1)|
|Chromosomal Location||69088646-69113711 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 69108331 bp|
|Amino Acid Change||Serine to Proline at position 404 (S404P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006435 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006435]|
|Predicted Effect||possibly damaging
AA Change: S404P
PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: S404P
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
|MGI Phenotype||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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp6v1b2||
(F):5'- TTCCTAGAAGATAAGGTCCCAGGC -3'
(R):5'- GGCTGCTTTGTTCCAGAGAG -3'
(F):5'- GCCTCACCTAGGGAAACAGTG -3'
(R):5'- TGTTCCAGAGAGTTATTCCAACC -3'