Incidental Mutation 'IGL03268:Slc29a2'
ID415181
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? Probably non essential (E-score: 0.212) question?
Stock #IGL03268
Quality Score
Status
Chromosome19
Chromosomal Location5024006-5031971 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 5024503 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025826]
Predicted Effect probably benign
Transcript: ENSMUST00000025826
SMART Domains Protein: ENSMUSP00000025826
Gene: ENSMUSG00000024891

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Anxa5 T C 3: 36,450,679 I245V probably benign Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dcn A G 10: 97,483,378 I6V probably benign Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mbnl2 G T 14: 120,379,157 C61F probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr594 T G 7: 103,220,641 F308V probably benign Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Prl8a2 A G 13: 27,353,955 K204R probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Rsrc2 T A 5: 123,740,727 K56* probably null Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Spsb2 A G 6: 124,809,487 E61G probably damaging Het
Srr A G 11: 74,913,117 Y5H probably benign Het
Suclg2 T C 6: 95,569,592 D301G probably damaging Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Tpst2 T C 5: 112,308,225 V210A probably damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign Het
Other mutations in Slc29a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Slc29a2 APN 19 5027439 missense possibly damaging 0.72
IGL01727:Slc29a2 APN 19 5026458 missense probably damaging 0.98
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 On2016-08-02