Incidental Mutation 'IGL01727:Slc29a2'
ID 105315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc29a2
Ensembl Gene ENSMUSG00000024891
Gene Name solute carrier family 29 (nucleoside transporters), member 2
Synonyms HNP36, ENT2, Der12
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # IGL01727
Quality Score
Status
Chromosome 19
Chromosomal Location 5073888-5082000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5076486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 125 (F125I)
Ref Sequence ENSEMBL: ENSMUSP00000025826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025826]
AlphaFold Q61672
Predicted Effect probably damaging
Transcript: ENSMUST00000025826
AA Change: F125I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025826
Gene: ENSMUSG00000024891
AA Change: F125I

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 67 89 N/A INTRINSIC
transmembrane domain 96 115 N/A INTRINSIC
Pfam:Nucleoside_tran 130 454 3.7e-117 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,012,380 (GRCm39) A292V probably benign Het
Ankrd26 A G 6: 118,488,597 (GRCm39) L1354P probably damaging Het
Aox1 T A 1: 58,112,387 (GRCm39) C720* probably null Het
Aqp5 T C 15: 99,489,502 (GRCm39) L117P probably damaging Het
Ccn3 G A 15: 54,609,634 (GRCm39) A45T probably benign Het
Col9a3 T C 2: 180,258,358 (GRCm39) probably null Het
Ctrc T C 4: 141,571,072 (GRCm39) Y56C probably damaging Het
Dsc2 T A 18: 20,171,257 (GRCm39) T581S probably benign Het
Grap2 T C 15: 80,518,610 (GRCm39) I51T probably damaging Het
Herc2 A G 7: 55,787,554 (GRCm39) Y1737C probably damaging Het
Hook3 A G 8: 26,560,187 (GRCm39) M346T probably benign Het
Lancl1 C T 1: 67,060,101 (GRCm39) C108Y probably damaging Het
Lpin2 T C 17: 71,553,447 (GRCm39) C824R probably damaging Het
Mlip T C 9: 77,147,030 (GRCm39) S88G probably damaging Het
Mtdh T G 15: 34,083,255 (GRCm39) L25R probably damaging Het
Musk A G 4: 58,303,887 (GRCm39) I177V probably benign Het
Obi1 G A 14: 104,716,823 (GRCm39) R517* probably null Het
Or12e13 T C 2: 87,663,844 (GRCm39) S154P probably damaging Het
Or4c100 A G 2: 88,356,271 (GRCm39) M115V probably benign Het
Or9i16 A G 19: 13,865,242 (GRCm39) C111R probably damaging Het
Pabpc4l C A 3: 46,401,100 (GRCm39) E181D probably damaging Het
Pcdh18 A G 3: 49,710,149 (GRCm39) S389P probably damaging Het
Ptk7 A G 17: 46,883,474 (GRCm39) Y864H probably damaging Het
Rbp4 A G 19: 38,112,500 (GRCm39) V155A probably benign Het
Rilpl1 C T 5: 124,669,007 (GRCm39) A14T possibly damaging Het
Rnf148 T A 6: 23,655,001 (GRCm39) probably benign Het
Ska2 T A 11: 87,006,973 (GRCm39) L26Q probably damaging Het
Smap2 A G 4: 120,839,405 (GRCm39) probably benign Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Supt7l A G 5: 31,677,686 (GRCm39) V160A possibly damaging Het
Susd1 A G 4: 59,412,329 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,842 (GRCm39) D375G probably damaging Het
Thoc2l A G 5: 104,667,379 (GRCm39) T634A probably benign Het
Tpst2 G A 5: 112,457,724 (GRCm39) D351N probably damaging Het
Trcg1 T C 9: 57,149,556 (GRCm39) I376T probably benign Het
Trcg1 T A 9: 57,149,877 (GRCm39) I483N probably damaging Het
Tsga10 T C 1: 37,874,355 (GRCm39) E148G probably damaging Het
Zranb1 G T 7: 132,568,349 (GRCm39) D336Y probably damaging Het
Other mutations in Slc29a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Slc29a2 APN 19 5,077,467 (GRCm39) missense possibly damaging 0.72
IGL03268:Slc29a2 APN 19 5,074,531 (GRCm39) splice site probably benign
R4050:Slc29a2 UTSW 19 5,079,481 (GRCm39) missense possibly damaging 0.92
R4615:Slc29a2 UTSW 19 5,079,292 (GRCm39) missense probably damaging 0.98
R5186:Slc29a2 UTSW 19 5,078,995 (GRCm39) missense probably benign 0.00
R5450:Slc29a2 UTSW 19 5,079,303 (GRCm39) missense probably benign 0.24
R5512:Slc29a2 UTSW 19 5,076,426 (GRCm39) missense probably benign 0.03
R6461:Slc29a2 UTSW 19 5,077,768 (GRCm39) missense probably benign 0.03
R6809:Slc29a2 UTSW 19 5,079,271 (GRCm39) missense probably damaging 1.00
R7447:Slc29a2 UTSW 19 5,076,445 (GRCm39) missense probably damaging 1.00
R7671:Slc29a2 UTSW 19 5,074,290 (GRCm39) missense probably benign 0.15
R8427:Slc29a2 UTSW 19 5,080,448 (GRCm39) missense probably benign 0.22
R9366:Slc29a2 UTSW 19 5,074,609 (GRCm39) missense probably damaging 0.96
Posted On 2014-01-21