|Institutional Source||Beutler Lab|
|Gene Name||ATPase, H+/K+ exchanging, beta polypeptide|
|Synonyms||H+,K+-ATPase, H,K-ATPase-Beta, H+/K+-ATPase beta|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7971 (G1)|
|Chromosomal Location||13386205-13396825 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 13389811 bp|
|Amino Acid Change||Phenylalanine to Serine at position 137 (F137S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033826 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033826]|
|Predicted Effect||probably damaging
AA Change: F137S
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: F137S
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are superficially normal but have hypertrophied stomach mucosa, neutral luminal pH in the stomach, and hypergastrinemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp4b||
(F):5'- CAGAGCAGGACCCTTGTAAC -3'
(R):5'- TGAAAACAGTTCCTGGGCTG -3'
(F):5'- GAGCAGGACCCTTGTAACTCACTC -3'
(R):5'- CTTCTTAGCAGGTGAGTGACC -3'