|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 29 (nucleoside transporters), member 2|
|Synonyms||HNP36, ENT2, Der12|
|Is this an essential gene?||Possibly non essential (E-score: 0.357)|
|Stock #||R7671 (G1)|
|Chromosomal Location||5024006-5031971 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 5024262 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 5 (N5I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025826 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025826]|
|Predicted Effect||probably benign
AA Change: N5I
PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: N5I
|Coding Region Coverage||
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'- AACGTGGTCCGCAGTGTAAC -3'
(R):5'- GGATCAATCAGAAGGTCACCCC -3'
(F):5'- TGGTCCGCAGTGTAACCCAAC -3'
(R):5'- GCCCCTCAGTAGAACGGAC -3'