Incidental Mutation 'IGL01606:Slc29a2'
ID 93414
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 # IGL01606
Quality Score
Status
Chromosome 19
Chromosomal Location 5073888-5082000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5077467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 215 (L215Q)
Ref Sequence ENSEMBL: ENSMUSP00000025826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025826]
AlphaFold Q61672
Predicted Effect possibly damaging
Transcript: ENSMUST00000025826
AA Change: L215Q

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025826
Gene: ENSMUSG00000024891
AA Change: L215Q

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A G 17: 15,164,125 (GRCm39) D84G probably damaging Het
Adat3 A T 10: 80,443,172 (GRCm39) I337F probably damaging Het
Carmil3 T A 14: 55,731,306 (GRCm39) N128K possibly damaging Het
Ceacam2 T C 7: 25,230,132 (GRCm39) E158G possibly damaging Het
Cel T C 2: 28,450,576 (GRCm39) I150V probably benign Het
Chd5 A G 4: 152,445,432 (GRCm39) H441R probably damaging Het
Clic5 G T 17: 44,559,633 (GRCm39) R109L probably benign Het
Cpd T C 11: 76,703,466 (GRCm39) M466V probably benign Het
Cyp39a1 T A 17: 44,057,509 (GRCm39) probably benign Het
Dnah11 C A 12: 117,946,767 (GRCm39) A3106S probably benign Het
Fasn A C 11: 120,699,849 (GRCm39) probably null Het
Fat1 G A 8: 45,476,086 (GRCm39) V1688I probably benign Het
Fibcd1 A G 2: 31,723,865 (GRCm39) I258T probably benign Het
Frem2 C A 3: 53,561,012 (GRCm39) R1165I possibly damaging Het
Gm5627 C T 9: 102,626,685 (GRCm39) noncoding transcript Het
Gm5862 T A 5: 26,224,514 (GRCm39) T152S probably benign Het
Gnb3 T A 6: 124,814,218 (GRCm39) D154V probably damaging Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Klrb1 C A 6: 128,699,968 (GRCm39) E14D probably benign Het
Osbpl1a A T 18: 12,889,271 (GRCm39) D556E possibly damaging Het
Pkd1 T C 17: 24,795,497 (GRCm39) V2330A probably damaging Het
Pkdrej T C 15: 85,701,901 (GRCm39) K1345R possibly damaging Het
Plxna4 A G 6: 32,134,936 (GRCm39) F1756L probably damaging Het
Psg28 A C 7: 18,164,296 (GRCm39) S139A probably benign Het
Ptpru A T 4: 131,535,792 (GRCm39) I395N possibly damaging Het
Reps1 A G 10: 17,983,435 (GRCm39) E426G probably damaging Het
Rtp4 T A 16: 23,432,004 (GRCm39) S179T probably benign Het
Sh3pxd2a C A 19: 47,257,035 (GRCm39) R561L probably benign Het
Slc44a4 T C 17: 35,147,994 (GRCm39) F653L probably damaging Het
Sulf1 G T 1: 12,906,428 (GRCm39) R490L possibly damaging Het
Ttll4 T C 1: 74,725,052 (GRCm39) L602P probably damaging Het
Ttn A G 2: 76,607,134 (GRCm39) V17963A probably damaging Het
Urb1 A G 16: 90,557,347 (GRCm39) S1760P probably damaging Het
Zmynd11 G A 13: 9,747,724 (GRCm39) R149W probably damaging Het
Other mutations in Slc29a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Slc29a2 APN 19 5,076,486 (GRCm39) missense probably damaging 0.98
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 2013-12-09