Incidental Mutation 'IGL01152:Slc36a2'
ID 52404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc36a2
Ensembl Gene ENSMUSG00000020264
Gene Name solute carrier family 36 (proton/amino acid symporter), member 2
Synonyms PAT2, Tramd1, A530067G19Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.352) question?
Stock # IGL01152
Quality Score
Status
Chromosome 11
Chromosomal Location 55049296-55075903 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 55060673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039305]
AlphaFold Q8BHK3
Predicted Effect probably benign
Transcript: ENSMUST00000039305
SMART Domains Protein: ENSMUSP00000045613
Gene: ENSMUSG00000020264

DomainStartEndE-ValueType
Pfam:Aa_trans 47 458 3.6e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125560
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T G 1: 192,515,947 (GRCm39) noncoding transcript Het
Abcb4 G A 5: 9,000,678 (GRCm39) V1031M probably benign Het
Abcc4 A G 14: 118,836,797 (GRCm39) S655P probably damaging Het
Actn1 T C 12: 80,245,820 (GRCm39) K121R probably damaging Het
Aldh1l2 T A 10: 83,358,750 (GRCm39) R82* probably null Het
Arhgap31 T A 16: 38,422,601 (GRCm39) H1155L possibly damaging Het
Atp8a1 G T 5: 68,004,549 (GRCm39) P2Q probably damaging Het
Bcs1l A G 1: 74,631,174 (GRCm39) M401V possibly damaging Het
Brca2 A T 5: 150,465,855 (GRCm39) N1873I probably damaging Het
Cenpj T C 14: 56,789,757 (GRCm39) N764S probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Clk1 A T 1: 58,452,611 (GRCm39) C359S possibly damaging Het
Clk2 T A 3: 89,083,818 (GRCm39) F479I probably damaging Het
Cul4b T C X: 37,632,247 (GRCm39) M709V probably damaging Het
D130052B06Rik G T 11: 33,573,620 (GRCm39) probably null Het
Dgkb T A 12: 38,134,233 (GRCm39) N46K probably damaging Het
Dnah9 C T 11: 65,962,882 (GRCm39) R1811H probably damaging Het
Dnajc18 T C 18: 35,813,926 (GRCm39) N281S probably benign Het
Galnt5 A T 2: 57,915,405 (GRCm39) I654L probably benign Het
Gm9989 T G 3: 81,829,518 (GRCm39) noncoding transcript Het
Gpr179 T C 11: 97,228,237 (GRCm39) E1306G probably benign Het
Gsc C A 12: 104,437,864 (GRCm39) K219N probably damaging Het
Gsx2 A T 5: 75,236,452 (GRCm39) I11F probably damaging Het
Igdcc4 A C 9: 65,042,446 (GRCm39) E121A probably damaging Het
Lama2 C T 10: 27,084,425 (GRCm39) R915H probably benign Het
Large2 A G 2: 92,200,984 (GRCm39) L64P probably damaging Het
Lztr1 C A 16: 17,340,317 (GRCm39) Q136K probably damaging Het
Mageb18 A G X: 91,163,430 (GRCm39) W271R possibly damaging Het
Magoh A C 4: 107,742,203 (GRCm39) probably benign Het
Matcap2 A T 9: 22,346,460 (GRCm39) H356L probably benign Het
Mrgprx1 T C 7: 47,671,234 (GRCm39) H171R probably benign Het
Muc1 C A 3: 89,138,061 (GRCm39) T301K probably benign Het
Nbas C T 12: 13,410,959 (GRCm39) L868F probably damaging Het
Nwd2 A G 5: 63,963,872 (GRCm39) D1152G possibly damaging Het
Or5p68 C T 7: 107,946,156 (GRCm39) A11T probably benign Het
Or7d10 G A 9: 19,832,245 (GRCm39) V247M possibly damaging Het
Ovgp1 T A 3: 105,893,488 (GRCm39) D420E possibly damaging Het
Pacsin3 A G 2: 91,094,121 (GRCm39) D350G probably benign Het
Pcolce2 A T 9: 95,574,976 (GRCm39) N309Y probably damaging Het
Pim2 C A X: 7,744,661 (GRCm39) probably benign Het
Plcb1 A G 2: 134,655,579 (GRCm39) Y53C probably damaging Het
Pogk T C 1: 166,236,047 (GRCm39) E18G probably damaging Het
Pxdn T A 12: 30,051,936 (GRCm39) D704E probably damaging Het
Rb1 C A 14: 73,443,310 (GRCm39) S781I probably damaging Het
Rnpepl1 A G 1: 92,843,621 (GRCm39) H247R possibly damaging Het
Scube1 A T 15: 83,497,771 (GRCm39) F697I probably damaging Het
Sel1l3 G T 5: 53,273,675 (GRCm39) H1064N probably damaging Het
Serinc3 A G 2: 163,478,831 (GRCm39) Y99H probably damaging Het
Smarcc1 A C 9: 109,968,693 (GRCm39) E130A possibly damaging Het
Strc A G 2: 121,201,276 (GRCm39) M1273T probably benign Het
Tmem116 A G 5: 121,601,862 (GRCm39) I21V probably benign Het
Tmem190 T C 7: 4,787,025 (GRCm39) probably benign Het
Trim63 C T 4: 134,052,987 (GRCm39) A316V probably benign Het
Ugt2b34 T C 5: 87,049,062 (GRCm39) E321G probably damaging Het
Zfat T A 15: 67,982,353 (GRCm39) R1053S probably damaging Het
Other mutations in Slc36a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Slc36a2 APN 11 55,053,614 (GRCm39) nonsense probably null
IGL01545:Slc36a2 APN 11 55,075,633 (GRCm39) splice site probably null
IGL01835:Slc36a2 APN 11 55,053,559 (GRCm39) missense probably benign 0.01
IGL02935:Slc36a2 APN 11 55,060,854 (GRCm39) missense possibly damaging 0.67
R0025:Slc36a2 UTSW 11 55,053,621 (GRCm39) missense probably damaging 1.00
R0025:Slc36a2 UTSW 11 55,053,621 (GRCm39) missense probably damaging 1.00
R0067:Slc36a2 UTSW 11 55,053,466 (GRCm39) splice site probably benign
R0417:Slc36a2 UTSW 11 55,072,370 (GRCm39) critical splice donor site probably null
R0747:Slc36a2 UTSW 11 55,060,685 (GRCm39) missense probably benign 0.00
R0927:Slc36a2 UTSW 11 55,072,411 (GRCm39) missense probably damaging 0.98
R1186:Slc36a2 UTSW 11 55,055,057 (GRCm39) critical splice donor site probably null
R1673:Slc36a2 UTSW 11 55,075,739 (GRCm39) missense possibly damaging 0.86
R1677:Slc36a2 UTSW 11 55,075,735 (GRCm39) missense probably benign
R2109:Slc36a2 UTSW 11 55,072,381 (GRCm39) missense probably damaging 1.00
R4037:Slc36a2 UTSW 11 55,055,101 (GRCm39) missense probably benign 0.10
R4945:Slc36a2 UTSW 11 55,065,520 (GRCm39) missense probably benign 0.10
R5108:Slc36a2 UTSW 11 55,050,214 (GRCm39) missense probably damaging 0.96
R6534:Slc36a2 UTSW 11 55,075,693 (GRCm39) missense probably benign 0.00
R7188:Slc36a2 UTSW 11 55,053,483 (GRCm39) missense possibly damaging 0.95
R7219:Slc36a2 UTSW 11 55,059,744 (GRCm39) missense probably benign 0.14
R7564:Slc36a2 UTSW 11 55,053,498 (GRCm39) missense probably benign 0.00
R8017:Slc36a2 UTSW 11 55,055,095 (GRCm39) missense probably benign 0.01
R8019:Slc36a2 UTSW 11 55,055,095 (GRCm39) missense probably benign 0.01
R8310:Slc36a2 UTSW 11 55,070,158 (GRCm39) missense possibly damaging 0.69
R9282:Slc36a2 UTSW 11 55,060,837 (GRCm39) missense probably benign 0.02
R9334:Slc36a2 UTSW 11 55,075,865 (GRCm39) start gained probably benign
R9711:Slc36a2 UTSW 11 55,070,169 (GRCm39) missense probably benign
X0063:Slc36a2 UTSW 11 55,059,654 (GRCm39) critical splice donor site probably null
Z1176:Slc36a2 UTSW 11 55,070,228 (GRCm39) missense probably benign 0.00
Z1177:Slc36a2 UTSW 11 55,060,880 (GRCm39) missense probably benign 0.01
Posted On 2013-06-21