|Institutional Source||Beutler Lab|
|Gene Name||ATPase, Cu++ transporting, beta polypeptide|
|Synonyms||Atp7a, WND, Wilson protein|
|Is this an essential gene?||Possibly essential (E-score: 0.663)|
|Stock #||R5009 (G1)|
|Chromosomal Location||21992785-22060305 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 22027698 bp|
|Amino Acid Change||Serine to Proline at position 375 (S375P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006742 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000110738]|
|Predicted Effect||possibly damaging
AA Change: S375P
PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: S375P
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (91/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp7b||
(F):5'- CTACGCAAATCCTGTCATGAGAC -3'
(R):5'- ATGTTCCTGCAGACAGCCATC -3'
(F):5'- AGAGATGACCCCGACATATTTC -3'
(R):5'- ATCGAGGCACTACCACCTGG -3'