Incidental Mutation 'IGL01835:Slc36a2'
ID154939
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: 0.308) question?
Stock #IGL01835
Quality Score
Status
Chromosome11
Chromosomal Location55158470-55185077 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55162733 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 360 (I360V)
Ref Sequence ENSEMBL: ENSMUSP00000045613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039305]
Predicted Effect probably benign
Transcript: ENSMUST00000039305
AA Change: I360V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000045613
Gene: ENSMUSG00000020264
AA Change: I360V

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,167,181 Y727* probably null Het
2700049A03Rik T A 12: 71,167,183 M728K probably benign Het
Adam23 T C 1: 63,543,119 Y309H probably damaging Het
Ash2l C T 8: 25,839,840 V97M probably damaging Het
Cyp4f13 A G 17: 32,930,614 F83L probably benign Het
Dnah6 A T 6: 73,135,801 S1607T probably damaging Het
Dock2 T A 11: 34,310,435 M969L possibly damaging Het
Dse T A 10: 34,160,217 probably benign Het
Dusp22 C T 13: 30,708,683 probably null Het
F5 G A 1: 164,194,368 V1471I probably benign Het
Gm14403 A T 2: 177,507,256 E48D probably damaging Het
Gm6309 G A 5: 146,168,275 A276V probably damaging Het
Icam4 A T 9: 21,029,790 T113S probably damaging Het
Ipo5 T C 14: 120,926,238 V236A probably benign Het
Mrc2 T G 11: 105,336,677 F579V probably damaging Het
Myl4 T A 11: 104,577,453 M1K probably null Het
Oas3 A T 5: 120,766,128 C560* probably null Het
Olfr225 T C 11: 59,613,339 V125A probably damaging Het
Olfr670 T C 7: 104,960,462 N90S probably benign Het
Prlr G A 15: 10,329,043 V535I probably damaging Het
Ptprd T C 4: 76,246,821 T48A probably benign Het
Rasa4 A G 5: 136,102,607 H485R possibly damaging Het
Rnf13 A T 3: 57,820,586 H229L probably damaging Het
Rpap3 T C 15: 97,703,239 D39G possibly damaging Het
Sec23ip T A 7: 128,755,311 probably null Het
Sirpa T A 2: 129,615,564 F186Y possibly damaging Het
Slc26a11 T C 11: 119,377,214 Y473H probably benign Het
Spg11 G A 2: 122,088,224 R975C probably benign Het
Sppl2b T A 10: 80,865,341 I350N probably damaging Het
Tas2r139 A T 6: 42,141,432 N166I probably benign Het
Trav14n-3 A G 14: 53,370,329 T39A possibly damaging Het
Vmn2r61 A G 7: 42,300,591 M812V probably benign Het
Vmn2r87 A C 10: 130,479,109 F203V probably damaging Het
Vwde A C 6: 13,186,824 V888G probably benign Het
Zbtb17 T C 4: 141,465,438 probably null Het
Other mutations in Slc36a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Slc36a2 APN 11 55162788 nonsense probably null
IGL01152:Slc36a2 APN 11 55169847 splice site probably benign
IGL01545:Slc36a2 APN 11 55184807 splice site probably null
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
X0063:Slc36a2 UTSW 11 55168828 critical splice donor site probably null
Posted On2014-02-04