Incidental Mutation 'R0025:Slc36a2'
ID 18685
Institutional Source Beutler Lab
Gene Symbol Slc36a2
Ensembl Gene ENSMUSG00000020264
Gene Name solute carrier family 36 (proton/amino acid symporter), member 2
Synonyms PAT2, A530067G19Rik, Tramd1
MMRRC Submission 038320-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R0025 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 55158470-55185077 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55162795 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 339 (L339P)
Ref Sequence ENSEMBL: ENSMUSP00000045613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039305]
AlphaFold Q8BHK3
Predicted Effect probably damaging
Transcript: ENSMUST00000039305
AA Change: L339P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000045613
Gene: ENSMUSG00000020264
AA Change: L339P

DomainStartEndE-ValueType
Pfam:Aa_trans 47 458 3.6e-75 PFAM
Meta Mutation Damage Score 0.8632 question?
Coding Region Coverage
  • 1x: 75.6%
  • 3x: 62.5%
  • 10x: 33.3%
  • 20x: 15.9%
Validation Efficiency 95% (69/73)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A T 7: 119,658,315 T435S probably damaging Het
Agtpbp1 G A 13: 59,500,200 T602I probably benign Het
Ahnak2 T A 12: 112,785,534 D231V probably damaging Het
Ampd3 G A 7: 110,793,669 D215N probably benign Het
Ate1 A G 7: 130,503,793 S332P probably damaging Het
Ces1f T C 8: 93,271,885 E161G probably benign Het
Ces2g A G 8: 104,965,996 probably benign Het
Cntnap4 T G 8: 112,803,164 L668R probably damaging Het
Col1a2 G A 6: 4,518,822 probably benign Het
Csf1 A G 3: 107,748,644 V245A probably benign Het
Ctss A G 3: 95,550,137 Y302C probably damaging Het
Dbt C T 3: 116,534,783 H158Y probably benign Het
Dennd6b T C 15: 89,186,183 I428V probably benign Het
Dnah9 G A 11: 65,969,955 probably benign Het
Dock3 G T 9: 106,913,268 Q1419K possibly damaging Het
Enpp6 A G 8: 47,066,000 K268E probably damaging Het
Eps15l1 T G 8: 72,381,497 probably benign Het
Gm10800 C A 2: 98,666,580 M209I probably benign Het
Herc3 C T 6: 58,874,308 P514L probably damaging Het
Mark2 T C 19: 7,285,922 D160G probably damaging Het
Mbd4 A G 6: 115,844,568 probably null Het
Mink1 T C 11: 70,613,042 W1263R probably damaging Het
Nlrp14 A T 7: 107,181,258 probably benign Het
Osbp T C 19: 11,983,958 Y454H probably damaging Het
Pak7 T C 2: 136,100,784 K479E possibly damaging Het
Pard3 C A 8: 127,161,308 D73E probably damaging Het
Pmp22 A T 11: 63,158,250 probably null Het
Scn4a C T 11: 106,324,560 V1197I probably benign Het
Smg1 G A 7: 118,212,443 T104I possibly damaging Het
Stx18 T A 5: 38,092,564 Y74N probably damaging Het
Stxbp5 A T 10: 9,762,748 H1102Q probably damaging Het
Tom1l2 T C 11: 60,230,134 K450E probably damaging Het
Tpo T C 12: 30,100,390 Q497R probably benign Het
Tsc2 A G 17: 24,631,004 probably benign Het
Vit G A 17: 78,599,835 G229R probably benign Het
Vwf T A 6: 125,682,812 I2658N probably benign Het
Wdr36 T A 18: 32,859,307 D632E probably damaging Het
Zcchc6 A T 13: 59,805,328 D99E probably benign Het
Zfp654 A G 16: 64,784,818 V466A probably benign Het
Zfp941 T C 7: 140,813,272 D58G probably benign 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
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
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
R8017:Slc36a2 UTSW 11 55164269 missense probably benign 0.01
R8019:Slc36a2 UTSW 11 55164269 missense probably benign 0.01
R8310:Slc36a2 UTSW 11 55179332 missense possibly damaging 0.69
R9282:Slc36a2 UTSW 11 55170011 missense probably benign 0.02
R9334:Slc36a2 UTSW 11 55185039 start gained probably benign
R9711:Slc36a2 UTSW 11 55179343 missense probably benign
X0063:Slc36a2 UTSW 11 55168828 critical splice donor site probably null
Z1176:Slc36a2 UTSW 11 55179402 missense probably benign 0.00
Z1177:Slc36a2 UTSW 11 55170054 missense probably benign 0.01
Posted On 2013-03-25