|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 29 (nucleoside transporters), member 2|
|Synonyms||HNP36, ENT2, Der12|
|Is this an essential gene?||Probably non essential (E-score: 0.242)|
|Stock #||R5450 (G1)|
|Chromosomal Location||5024006-5031971 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 5029275 bp|
|Amino Acid Change||Isoleucine to Valine at position 309 (I309V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025826 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025826]|
|Predicted Effect||probably benign
AA Change: I309V
PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: I309V
|Meta Mutation Damage Score||0.1516|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit normal adenosine uptake in erythrocytes and protection from acute lung injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc29a2||
(F):5'- TTAGACCTTAGTGCGTATTCCC -3'
(R):5'- CCAGCCAATCCATGACGTTG -3'
(F):5'- TCACTGGCTCATGGTGGC -3'
(R):5'- GCCAATCCATGACGTTGAAGAGC -3'