|Institutional Source||Beutler Lab|
|Gene Name||alpha glucosidase 2 alpha neutral subunit|
|Is this an essential gene?||Probably essential (E-score: 0.891)|
|Stock #||R6911 (G1)|
|Chromosomal Location||8898090-8916663 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 8907788 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000093965 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000096246]|
|Predicted Effect||probably null
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ganab||
(F):5'- TGAGCTATACACTAGGCACCTCC -3'
(R):5'- AAGAAGGTCCGGGCAAGTTC -3'
(F):5'- ATACACTAGGCACCTCCTCTGGG -3'
(R):5'- CGGGCAAGTTCCCCAGAG -3'