Incidental Mutation 'IGL00484:Slc36a2'
ID 4597
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 # IGL00484
Quality Score
Status
Chromosome 11
Chromosomal Location 55049296-55075903 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 55053614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 341 (Y341*)
Ref Sequence ENSEMBL: ENSMUSP00000045613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039305]
AlphaFold Q8BHK3
Predicted Effect probably null
Transcript: ENSMUST00000039305
AA Change: Y341*
SMART Domains Protein: ENSMUSP00000045613
Gene: ENSMUSG00000020264
AA Change: Y341*

DomainStartEndE-ValueType
Pfam:Aa_trans 47 458 3.6e-75 PFAM
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 A G 7: 139,455,860 (GRCm39) Q496R probably benign Het
Ankrd17 A T 5: 90,416,220 (GRCm39) S1151T probably damaging Het
Ankrd55 A G 13: 112,504,328 (GRCm39) K330R probably benign Het
Anln A T 9: 22,272,120 (GRCm39) Y666* probably null Het
Atp1a2 A G 1: 172,103,569 (GRCm39) W984R probably damaging Het
Atp8b3 G T 10: 80,361,998 (GRCm39) probably benign Het
Casc3 A G 11: 98,714,028 (GRCm39) E420G possibly damaging Het
Cep250 G A 2: 155,833,249 (GRCm39) D1724N probably benign Het
Dhx15 T G 5: 52,324,154 (GRCm39) E379D probably benign Het
Dock1 T A 7: 134,748,260 (GRCm39) probably benign Het
Exph5 C T 9: 53,288,006 (GRCm39) Q1696* probably null Het
Fkbp6 C A 5: 135,368,802 (GRCm39) A213S possibly damaging Het
Fndc4 A G 5: 31,450,840 (GRCm39) probably benign Het
Gli3 A T 13: 15,818,977 (GRCm39) T260S possibly damaging Het
Glmp T A 3: 88,233,169 (GRCm39) probably null Het
H2ac22 G T 13: 21,971,091 (GRCm39) R100S probably benign Het
Hapstr1 T C 16: 8,649,175 (GRCm39) probably benign Het
Ighv1-19 G A 12: 114,672,329 (GRCm39) T97I probably benign Het
Kdm6b T C 11: 69,297,132 (GRCm39) S407G possibly damaging Het
Lrp1b T C 2: 41,000,873 (GRCm39) Y2231C probably damaging Het
Lyst T A 13: 13,884,188 (GRCm39) S2999T probably benign Het
Lztr1 T C 16: 17,335,314 (GRCm39) probably benign Het
N4bp2 T C 5: 65,964,867 (GRCm39) V972A probably damaging Het
Ncoa6 A T 2: 155,248,128 (GRCm39) S1725R probably damaging Het
Nfkbiz A G 16: 55,638,272 (GRCm39) V396A probably benign Het
Nup205 A G 6: 35,191,737 (GRCm39) Q1074R probably damaging Het
Pard3 T C 8: 128,098,327 (GRCm39) V456A probably benign Het
Peli1 T A 11: 21,096,952 (GRCm39) V114E probably damaging Het
Phf20l1 T G 15: 66,487,482 (GRCm39) probably benign Het
Pik3r1 A C 13: 101,838,255 (GRCm39) I267S probably benign Het
Polh C T 17: 46,483,169 (GRCm39) probably benign Het
Ppl A G 16: 4,905,816 (GRCm39) I1493T probably benign Het
Pramel19 T C 4: 101,798,898 (GRCm39) F290L probably benign Het
Pramel28 G A 4: 143,693,184 (GRCm39) probably benign Het
Prg3 A G 2: 84,819,091 (GRCm39) I6V probably benign Het
Ptprg T C 14: 12,215,220 (GRCm38) V1069A probably damaging Het
Rasal2 A T 1: 157,001,745 (GRCm39) probably null Het
Snapc3 A G 4: 83,354,633 (GRCm39) I215V probably damaging Het
Srrm2 T A 17: 24,037,492 (GRCm39) S1475T probably benign Het
Sycp2 A T 2: 178,024,141 (GRCm39) D414E probably damaging Het
Tanc1 A G 2: 59,623,520 (GRCm39) T468A probably benign Het
Tfap2d A G 1: 19,213,105 (GRCm39) T310A probably benign Het
Tgfbr2 T A 9: 115,987,357 (GRCm39) I51F probably benign Het
Trip11 A T 12: 101,851,570 (GRCm39) C546* probably null Het
Ttbk2 C T 2: 120,604,367 (GRCm39) W210* probably null Het
Upk1b T G 16: 38,600,378 (GRCm39) N201H possibly damaging Het
Uqcc5 T A 14: 30,810,879 (GRCm39) probably benign Het
Ush2a A T 1: 188,514,710 (GRCm39) T3180S probably benign Het
Vps13d T G 4: 144,853,145 (GRCm39) Q2323P probably benign Het
Zfp810 A T 9: 22,189,605 (GRCm39) Y434* probably null Het
Other mutations in Slc36a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Slc36a2 APN 11 55,060,673 (GRCm39) splice site probably benign
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 2012-04-20