Incidental Mutation 'IGL00484:Slc36a2'
ID4597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc36a2
Ensembl Gene ENSMUSG00000020264
Gene Namesolute carrier family 36 (proton/amino acid symporter), member 2
SynonymsPAT2, A530067G19Rik, Tramd1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.390) question?
Stock #IGL00484
Quality Score
Status
Chromosome11
Chromosomal Location55158470-55185077 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 55162788 bp
ZygosityHeterozygous
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]
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
1810013L24Rik T C 16: 8,831,311 probably benign Het
Adgra1 A G 7: 139,875,944 Q496R probably benign Het
Ankrd17 A T 5: 90,268,361 S1151T probably damaging Het
Ankrd55 A G 13: 112,367,794 K330R probably benign Het
Anln A T 9: 22,360,824 Y666* probably null Het
Atp1a2 A G 1: 172,276,002 W984R probably damaging Het
Atp8b3 G T 10: 80,526,164 probably benign Het
Casc3 A G 11: 98,823,202 E420G possibly damaging Het
Cep250 G A 2: 155,991,329 D1724N probably benign Het
Dhx15 T G 5: 52,166,812 E379D probably benign Het
Dock1 T A 7: 135,146,531 probably benign Het
Exph5 C T 9: 53,376,706 Q1696* probably null Het
Fkbp6 C A 5: 135,339,948 A213S possibly damaging Het
Fndc4 A G 5: 31,293,496 probably benign Het
Gli3 A T 13: 15,644,392 T260S possibly damaging Het
Glmp T A 3: 88,325,862 probably null Het
Gm12794 T C 4: 101,941,701 F290L probably benign Het
Gm13101 G A 4: 143,966,614 probably benign Het
Hist1h2an G T 13: 21,786,921 R100S probably benign Het
Ighv1-19 G A 12: 114,708,709 T97I probably benign Het
Kdm6b T C 11: 69,406,306 S407G possibly damaging Het
Lrp1b T C 2: 41,110,861 Y2231C probably damaging Het
Lyst T A 13: 13,709,603 S2999T probably benign Het
Lztr1 T C 16: 17,517,450 probably benign Het
N4bp2 T C 5: 65,807,524 V972A probably damaging Het
Ncoa6 A T 2: 155,406,208 S1725R probably damaging Het
Nfkbiz A G 16: 55,817,909 V396A probably benign Het
Nup205 A G 6: 35,214,802 Q1074R probably damaging Het
Pard3 T C 8: 127,371,846 V456A probably benign Het
Peli1 T A 11: 21,146,952 V114E probably damaging Het
Phf20l1 T G 15: 66,615,633 probably benign Het
Pik3r1 A C 13: 101,701,747 I267S probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppl A G 16: 5,087,952 I1493T probably benign Het
Prg3 A G 2: 84,988,747 I6V probably benign Het
Ptprg T C 14: 12,215,220 V1069A probably damaging Het
Rasal2 A T 1: 157,174,175 probably null Het
Smim4 T A 14: 31,088,922 probably benign Het
Snapc3 A G 4: 83,436,396 I215V probably damaging Het
Srrm2 T A 17: 23,818,518 S1475T probably benign Het
Sycp2 A T 2: 178,382,348 D414E probably damaging Het
Tanc1 A G 2: 59,793,176 T468A probably benign Het
Tfap2d A G 1: 19,142,881 T310A probably benign Het
Tgfbr2 T A 9: 116,158,289 I51F probably benign Het
Trip11 A T 12: 101,885,311 C546* probably null Het
Ttbk2 C T 2: 120,773,886 W210* probably null Het
Upk1b T G 16: 38,780,016 N201H possibly damaging Het
Ush2a A T 1: 188,782,513 T3180S probably benign Het
Vps13d T G 4: 145,126,575 Q2323P probably benign Het
Zfp810 A T 9: 22,278,309 Y434* probably null Het
Other mutations in Slc36a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Slc36a2 APN 11 55169847 splice site probably benign
IGL01545:Slc36a2 APN 11 55184807 splice site probably null
IGL01835:Slc36a2 APN 11 55162733 missense probably benign 0.01
IGL02935:Slc36a2 APN 11 55170028 missense possibly damaging 0.67
R0025:Slc36a2 UTSW 11 55162795 missense probably damaging 1.00
R0025:Slc36a2 UTSW 11 55162795 missense probably damaging 1.00
R0067:Slc36a2 UTSW 11 55162640 splice site probably benign
R0417:Slc36a2 UTSW 11 55181544 critical splice donor site probably null
R0747:Slc36a2 UTSW 11 55169859 missense probably benign 0.00
R0927:Slc36a2 UTSW 11 55181585 missense probably damaging 0.98
R1186:Slc36a2 UTSW 11 55164231 critical splice donor site probably null
R1673:Slc36a2 UTSW 11 55184913 missense possibly damaging 0.86
R1677:Slc36a2 UTSW 11 55184909 missense probably benign
R2109:Slc36a2 UTSW 11 55181555 missense probably damaging 1.00
R4037:Slc36a2 UTSW 11 55164275 missense probably benign 0.10
R4945:Slc36a2 UTSW 11 55174694 missense probably benign 0.10
R5108:Slc36a2 UTSW 11 55159388 missense probably damaging 0.96
R6534:Slc36a2 UTSW 11 55184867 missense probably benign 0.00
R7188:Slc36a2 UTSW 11 55162657 missense possibly damaging 0.95
R7219:Slc36a2 UTSW 11 55168918 missense probably benign 0.14
R7564:Slc36a2 UTSW 11 55162672 missense probably benign 0.00
R8019:Slc36a2 UTSW 11 55164269
X0063:Slc36a2 UTSW 11 55168828 critical splice donor site probably null
Z1176:Slc36a2 UTSW 11 55179402
Z1177:Slc36a2 UTSW 11 55170054
Posted On2012-04-20