Incidental Mutation 'IGL02173:Slc1a2'
ID282983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc1a2
Ensembl Gene ENSMUSG00000005089
Gene Namesolute carrier family 1 (glial high affinity glutamate transporter), member 2
Synonyms2900019G14Rik, 1700091C19Rik, MGLT1, GLT1, Eaat2, GLT-1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.582) question?
Stock #IGL02173
Quality Score
Status
Chromosome2
Chromosomal Location102658659-102790784 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102743861 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 205 (N205K)
Ref Sequence ENSEMBL: ENSMUSP00000079100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005220] [ENSMUST00000080210] [ENSMUST00000111212] [ENSMUST00000111213] [ENSMUST00000123759]
Predicted Effect probably benign
Transcript: ENSMUST00000005220
AA Change: N202K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000005220
Gene: ENSMUSG00000005089
AA Change: N202K

DomainStartEndE-ValueType
Pfam:SDF 43 492 8.9e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080210
AA Change: N205K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000079100
Gene: ENSMUSG00000005089
AA Change: N205K

DomainStartEndE-ValueType
Pfam:SDF 46 495 3e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111212
AA Change: N202K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106843
Gene: ENSMUSG00000005089
AA Change: N202K

DomainStartEndE-ValueType
Pfam:SDF 43 492 9.5e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111213
AA Change: N205K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000106844
Gene: ENSMUSG00000005089
AA Change: N205K

DomainStartEndE-ValueType
Pfam:SDF 46 495 2e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123759
SMART Domains Protein: ENSMUSP00000115129
Gene: ENSMUSG00000005089

DomainStartEndE-ValueType
Pfam:SDF 37 157 4.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147082
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 member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display spontaneous seizures often leading to death as well as a succeptibility to neuronal degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,225,892 H68L possibly damaging Het
4930533K18Rik A G 10: 70,872,230 noncoding transcript Het
4933409G03Rik A G 2: 68,613,057 T182A unknown Het
Abca2 T A 2: 25,441,897 D1340E probably benign Het
Abcc12 G A 8: 86,566,442 A39V probably damaging Het
Acap2 T C 16: 31,108,147 R510G possibly damaging Het
Ace G T 11: 105,988,991 R719L probably benign Het
Adarb1 A C 10: 77,321,825 F263V probably damaging Het
Ambra1 T C 2: 91,917,668 S1130P probably benign Het
Aqp7 A T 4: 41,034,379 L260* probably null Het
Cntn5 G T 9: 9,748,396 S493R probably damaging Het
Crhr2 A G 6: 55,103,180 F138S probably damaging Het
D2hgdh T A 1: 93,829,889 D175E probably benign Het
Dtx4 G T 19: 12,473,257 Y530* probably null Het
Elp4 T A 2: 105,702,743 H419L probably damaging Het
Etv6 A G 6: 134,248,727 D218G possibly damaging Het
Exoc5 A G 14: 49,034,801 probably benign Het
Fyb C T 15: 6,580,695 P250S probably benign Het
Gaa A G 11: 119,274,913 Y84C probably damaging Het
Galns A T 8: 122,598,626 S262R probably damaging Het
Gm4737 T C 16: 46,154,078 N312S probably benign Het
Kctd16 T C 18: 40,530,853 I345T probably benign Het
Lats2 A G 14: 57,697,260 V671A probably damaging Het
Maml3 C A 3: 51,690,787 L179F probably damaging Het
Myo1f T C 17: 33,607,344 L1089P probably damaging Het
Nadsyn1 A T 7: 143,804,006 probably benign Het
Olfr1502 A G 19: 13,862,014 T74A probably benign Het
Olfr39 T C 9: 20,286,395 V240A probably benign Het
Olfr394 A G 11: 73,888,123 M83T possibly damaging Het
Olfr639 G A 7: 104,011,830 P291S probably damaging Het
Otog T C 7: 46,276,741 probably benign Het
Pcbd1 A G 10: 61,092,204 probably benign Het
Pced1a A G 2: 130,422,328 V164A possibly damaging Het
Pgd A G 4: 149,156,753 I233T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sec24d A T 3: 123,353,681 H733L probably damaging Het
Sstr2 G T 11: 113,625,016 V254L probably damaging Het
Tm9sf2 G T 14: 122,143,423 V308F probably benign Het
Tor3a T C 1: 156,674,206 K34E probably benign Het
Tsta3 A G 15: 75,926,185 S233P probably damaging Het
Ubr4 T A 4: 139,437,070 probably null Het
Vmn1r56 A G 7: 5,196,118 S167P probably damaging Het
Zswim3 T A 2: 164,820,839 I413N probably damaging Het
Other mutations in Slc1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Slc1a2 APN 2 102777576 missense possibly damaging 0.55
IGL00588:Slc1a2 APN 2 102756001 missense probably benign
IGL00931:Slc1a2 APN 2 102756112 missense probably damaging 1.00
IGL00942:Slc1a2 APN 2 102739814 missense probably damaging 1.00
IGL02100:Slc1a2 APN 2 102756089 missense probably damaging 1.00
IGL02184:Slc1a2 APN 2 102748544 missense probably damaging 1.00
IGL02480:Slc1a2 APN 2 102736066 missense probably damaging 1.00
IGL02643:Slc1a2 APN 2 102739880 missense probably benign 0.30
IGL03332:Slc1a2 APN 2 102748534 missense possibly damaging 0.96
R0335:Slc1a2 UTSW 2 102743863 missense probably benign
R0544:Slc1a2 UTSW 2 102756072 missense probably damaging 0.99
R0570:Slc1a2 UTSW 2 102756007 missense probably damaging 1.00
R1472:Slc1a2 UTSW 2 102737909 missense probably damaging 1.00
R1536:Slc1a2 UTSW 2 102777510 missense probably benign 0.37
R1856:Slc1a2 UTSW 2 102777567 missense probably damaging 0.97
R1936:Slc1a2 UTSW 2 102777605 missense probably benign 0.04
R1965:Slc1a2 UTSW 2 102739900 missense probably damaging 1.00
R2270:Slc1a2 UTSW 2 102735994 missense probably damaging 1.00
R2365:Slc1a2 UTSW 2 102748453 intron probably null
R2567:Slc1a2 UTSW 2 102767010 missense probably damaging 1.00
R2878:Slc1a2 UTSW 2 102761167 missense probably damaging 1.00
R3080:Slc1a2 UTSW 2 102748556 missense probably damaging 1.00
R4716:Slc1a2 UTSW 2 102748538 missense probably damaging 0.96
R4744:Slc1a2 UTSW 2 102737869 missense probably benign 0.41
R5197:Slc1a2 UTSW 2 102756115 missense probably benign 0.02
R5835:Slc1a2 UTSW 2 102777450 missense probably damaging 1.00
R7077:Slc1a2 UTSW 2 102777510 missense probably benign 0.37
R7155:Slc1a2 UTSW 2 102766995 missense probably damaging 1.00
R7179:Slc1a2 UTSW 2 102755945 missense probably damaging 1.00
R7455:Slc1a2 UTSW 2 102735954 missense probably benign 0.16
R7492:Slc1a2 UTSW 2 102739930 nonsense probably null
R7818:Slc1a2 UTSW 2 102743956 missense probably benign 0.06
R7868:Slc1a2 UTSW 2 102761185 missense probably benign 0.06
R7951:Slc1a2 UTSW 2 102761185 missense probably benign 0.06
X0065:Slc1a2 UTSW 2 102737831 missense probably benign 0.12
Z1177:Slc1a2 UTSW 2 102761125 missense not run
Posted On2015-04-16