Incidental Mutation 'IGL01727:Slc29a2'
ID105315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc29a2
Ensembl Gene ENSMUSG00000024891
Gene Namesolute carrier family 29 (nucleoside transporters), member 2
SynonymsHNP36, ENT2, Der12
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.343) question?
Stock #IGL01727
Quality Score
Status
Chromosome19
Chromosomal Location5024006-5031971 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 5026458 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 125 (F125I)
Ref Sequence ENSEMBL: ENSMUSP00000025826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025826]
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: 46,121,553 A292V probably benign Het
Ankrd26 A G 6: 118,511,636 L1354P probably damaging Het
Aox1 T A 1: 58,073,228 C720* probably null Het
Aqp5 T C 15: 99,591,621 L117P probably damaging Het
BC005561 A G 5: 104,519,513 T634A probably benign Het
Col9a3 T C 2: 180,616,565 probably null Het
Ctrc T C 4: 141,843,761 Y56C probably damaging Het
Dsc2 T A 18: 20,038,200 T581S probably benign Het
Grap2 T C 15: 80,634,409 I51T probably damaging Het
Herc2 A G 7: 56,137,806 Y1737C probably damaging Het
Hook3 A G 8: 26,070,159 M346T probably benign Het
Lancl1 C T 1: 67,020,942 C108Y probably damaging Het
Lpin2 T C 17: 71,246,452 C824R probably damaging Het
Mlip T C 9: 77,239,748 S88G probably damaging Het
Mtdh T G 15: 34,083,109 L25R probably damaging Het
Musk A G 4: 58,303,887 I177V probably benign Het
Nov G A 15: 54,746,238 A45T probably benign Het
Olfr1148 T C 2: 87,833,500 S154P probably damaging Het
Olfr1186 A G 2: 88,525,927 M115V probably benign Het
Olfr1504 A G 19: 13,887,878 C111R probably damaging Het
Pabpc4l C A 3: 46,446,665 E181D probably damaging Het
Pcdh18 A G 3: 49,755,700 S389P probably damaging Het
Ptk7 A G 17: 46,572,548 Y864H probably damaging Het
Rbp4 A G 19: 38,124,052 V155A probably benign Het
Rilpl1 C T 5: 124,530,944 A14T possibly damaging Het
Rnf148 T A 6: 23,655,002 probably benign Het
Rnf219 G A 14: 104,479,387 R517* probably null Het
Ska2 T A 11: 87,116,147 L26Q probably damaging Het
Smap2 A G 4: 120,982,208 probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Supt7l A G 5: 31,520,342 V160A possibly damaging Het
Susd1 A G 4: 59,412,329 probably benign Het
Syne1 T C 10: 5,047,842 D375G probably damaging Het
Tpst2 G A 5: 112,309,858 D351N probably damaging Het
Trcg1 T A 9: 57,242,594 I483N probably damaging Het
Trcg1 T C 9: 57,242,273 I376T probably benign Het
Tsga10 T C 1: 37,835,274 E148G probably damaging Het
Zranb1 G T 7: 132,966,620 D336Y probably damaging Het
Other mutations in Slc29a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Slc29a2 APN 19 5027439 missense possibly damaging 0.72
IGL03268:Slc29a2 APN 19 5024503 splice site probably benign
R4050:Slc29a2 UTSW 19 5029453 missense possibly damaging 0.92
R4615:Slc29a2 UTSW 19 5029264 missense probably damaging 0.98
R5186:Slc29a2 UTSW 19 5028967 missense probably benign 0.00
R5450:Slc29a2 UTSW 19 5029275 missense probably benign 0.24
R5512:Slc29a2 UTSW 19 5026398 missense probably benign 0.03
R6461:Slc29a2 UTSW 19 5027740 missense probably benign 0.03
R6809:Slc29a2 UTSW 19 5029243 missense probably damaging 1.00
R7447:Slc29a2 UTSW 19 5026417 missense probably damaging 1.00
R7671:Slc29a2 UTSW 19 5024262 missense probably benign 0.15
R8427:Slc29a2 UTSW 19 5030420 missense probably benign 0.22
Posted On2014-01-21