Incidental Mutation 'IGL01545:Slc36a2'
ID 90325
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 # IGL01545
Quality Score
Status
Chromosome 11
Chromosomal Location 55049296-55075903 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 55075633 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 null
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,376,228 (GRCm39) S213L probably benign Het
Adgrv1 A G 13: 81,614,303 (GRCm39) I4030T possibly damaging Het
Ap4b1 G A 3: 103,720,143 (GRCm39) R55H probably benign Het
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Atp6v1h T A 1: 5,159,282 (GRCm39) M55K probably benign Het
B3galt4 A C 17: 34,170,187 (GRCm39) V17G probably benign Het
Cd79a A T 7: 24,600,691 (GRCm39) M172L probably benign Het
Cry1 A T 10: 85,020,226 (GRCm39) L37H possibly damaging Het
D5Ertd615e A T 5: 45,326,755 (GRCm39) noncoding transcript Het
Dnah17 A T 11: 118,010,394 (GRCm39) L308Q probably damaging Het
Dnah7a C T 1: 53,557,941 (GRCm39) A2158T probably benign Het
Dusp2 A G 2: 127,179,695 (GRCm39) T313A probably benign Het
Fam110c T C 12: 31,124,982 (GRCm39) S315P probably damaging Het
Fcer2a G A 8: 3,733,598 (GRCm39) R198* probably null Het
Fryl G A 5: 73,211,940 (GRCm39) T2359M probably damaging Het
Gm14221 G A 2: 160,410,303 (GRCm39) noncoding transcript Het
Gpc6 T G 14: 118,202,242 (GRCm39) L484R probably damaging Het
Igdcc3 G A 9: 65,087,355 (GRCm39) V298M probably damaging Het
Impg2 T A 16: 56,046,080 (GRCm39) probably benign Het
Iqca1 T A 1: 89,973,364 (GRCm39) M803L probably benign Het
Itga4 T C 2: 79,146,314 (GRCm39) probably benign Het
Katnip A G 7: 125,352,143 (GRCm39) probably null Het
Kidins220 T C 12: 25,090,459 (GRCm39) F1141S possibly damaging Het
Kif7 A G 7: 79,352,026 (GRCm39) I912T probably damaging Het
Klhl38 G A 15: 58,185,854 (GRCm39) R292W probably damaging Het
Lama3 A G 18: 12,574,188 (GRCm39) D590G probably benign Het
Map4k4 T C 1: 40,053,389 (GRCm39) probably benign Het
Mbd4 A T 6: 115,827,758 (GRCm39) D39E probably damaging Het
Mrm2 A G 5: 140,317,010 (GRCm39) V8A probably benign Het
Myod1 A T 7: 46,026,539 (GRCm39) E148V probably damaging Het
Or5d47 A C 2: 87,804,895 (GRCm39) I38S probably benign Het
Pdcd10 A T 3: 75,448,475 (GRCm39) F30I possibly damaging Het
Ptcd1 T A 5: 145,096,346 (GRCm39) H249L probably damaging Het
Ptcd3 A T 6: 71,865,561 (GRCm39) D451E probably benign Het
Rab44 C A 17: 29,366,351 (GRCm39) S680R unknown Het
Rad21l A T 2: 151,497,084 (GRCm39) D340E probably benign Het
Ranbp2 T C 10: 58,314,703 (GRCm39) F1808L possibly damaging Het
Rnf122 T C 8: 31,618,630 (GRCm39) V126A probably damaging Het
Slc25a47 G T 12: 108,820,142 (GRCm39) V49L probably benign Het
Sorl1 G A 9: 41,955,252 (GRCm39) R668W probably damaging Het
Tbx19 T A 1: 164,966,725 (GRCm39) N383I possibly damaging Het
Tenm4 A G 7: 96,523,510 (GRCm39) H1676R probably benign Het
Tgm5 G T 2: 120,883,289 (GRCm39) R351S probably damaging Het
Tmem106b A G 6: 13,071,842 (GRCm39) S34G probably benign Het
Trmo C T 4: 46,386,169 (GRCm39) G119R probably damaging Het
Ubr4 G A 4: 139,170,140 (GRCm39) probably benign Het
Wfdc11 A G 2: 164,507,365 (GRCm39) probably null Het
Xrn2 T A 2: 146,880,099 (GRCm39) I474K probably benign Het
Zfp827 A G 8: 79,797,063 (GRCm39) K383R probably damaging Het
Other mutations in Slc36a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Slc36a2 APN 11 55,053,614 (GRCm39) nonsense probably null
IGL01152:Slc36a2 APN 11 55,060,673 (GRCm39) splice site probably benign
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 2013-12-03