|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 2 (facilitated glucose transporter), member 2|
|Synonyms||Glut2, liver-type glucose transporter, Glut-2|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7178 (G1)|
|Chromosomal Location||28697903-28731359 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 28719482 bp (GRCm38)|
|Amino Acid Change||Alanine to Valine at position 312 (A312V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029240 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029240] [ENSMUST00000163536]|
AA Change: A312V
PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: A312V
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice are hyperglycemic with hypoinsulinemia and die within 2-3 weeks of life displaying increased plasma levels of glucagon, free fatty acids and beta-hydroxybutyrate, abnormal glucose tolerance, and altered postnatal development of pancreatic islets. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc2a2||
(F):5'- TTTTGGGGAAACAGGCTTGAAG -3'
(R):5'- GGACCTAAAGTGCTATTGTTGAC -3'
(F):5'- GCTTGAAGAGACTAAGAGGAACTG -3'
(R):5'- GAGCTAAATTTCGAGAGCCATTG -3'