|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 2 (facilitated glucose transporter), member 5|
|Is this an essential gene?||Probably non essential (E-score: 0.082)|
|Stock #||R7507 (G1)|
|Chromosomal Location||150119283-150144169 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 150125650 bp|
|Amino Acid Change||Tyrosine to Histidine at position 31 (Y31H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030826 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030826]|
|Predicted Effect||probably damaging
AA Change: Y31H
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: Y31H
|Coding Region Coverage||
|Validation Efficiency||100% (43/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cochlear morphology and physiology with no detectable alterations in outer hair cell morphology, electromotility or nonlinear capacitance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc2a5||
(F):5'- TGAGAGCCTGTTGTCACCTC -3'
(R):5'- GCACGTCCATGAGAAGCTGAAG -3'
(F):5'- AGAGCCTGTTGTCACCTCAATGG -3'
(R):5'- AGGACTTGGTCATTCACATGGC -3'