|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 23 (nucleobase transporters), member 2|
|Synonyms||Slc23a1, SVCT2, YSPL3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6960 (G1)|
|Chromosomal Location||132052496-132145108 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 132091253 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 95 (D95G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028815 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028815] [ENSMUST00000128899]|
|Predicted Effect||probably damaging
AA Change: D95G
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: D95G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.7669|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within minutes of birth from respiratory distress. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc23a2||
(F):5'- TTTCCCTGCTGTTCGGAAATTAATG -3'
(R):5'- AAGGACAGAATGGCTACACC -3'
(F):5'- TGGAGTTCAGTTCCCAGAAC -3'
(R):5'- AGTGACTAGCCCCTCTTT -3'