Incidental Mutation 'R1472:Slc1a2'
ID 164967
Institutional Source Beutler Lab
Gene Symbol Slc1a2
Ensembl Gene ENSMUSG00000005089
Gene Name solute carrier family 1 (glial high affinity glutamate transporter), member 2
Synonyms GLT-1, Eaat2, GLT1, 2900019G14Rik, MGLT1, 1700091C19Rik
MMRRC Submission 039525-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R1472 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 102489004-102621129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102568254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 88 (I88N)
Ref Sequence ENSEMBL: ENSMUSP00000115129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005220] [ENSMUST00000080210] [ENSMUST00000111212] [ENSMUST00000111213] [ENSMUST00000123759]
AlphaFold P43006
Predicted Effect probably damaging
Transcript: ENSMUST00000005220
AA Change: I94N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005220
Gene: ENSMUSG00000005089
AA Change: I94N

DomainStartEndE-ValueType
Pfam:SDF 43 492 8.9e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080210
AA Change: I97N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079100
Gene: ENSMUSG00000005089
AA Change: I97N

DomainStartEndE-ValueType
Pfam:SDF 46 495 3e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111212
AA Change: I94N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106843
Gene: ENSMUSG00000005089
AA Change: I94N

DomainStartEndE-ValueType
Pfam:SDF 43 492 9.5e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111213
AA Change: I97N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106844
Gene: ENSMUSG00000005089
AA Change: I97N

DomainStartEndE-ValueType
Pfam:SDF 46 495 2e-134 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123759
AA Change: I88N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115129
Gene: ENSMUSG00000005089
AA Change: I88N

DomainStartEndE-ValueType
Pfam:SDF 37 157 4.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145921
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,773,313 (GRCm39) T834M possibly damaging Het
Ak1 T C 2: 32,520,313 (GRCm39) L32P probably damaging Het
Ankrd24 A G 10: 81,470,754 (GRCm39) D61G probably damaging Het
Atp13a2 T C 4: 140,721,113 (GRCm39) S99P probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Bmp10 A G 6: 87,410,779 (GRCm39) I191V probably benign Het
C2cd6 A T 1: 59,106,944 (GRCm39) S294T possibly damaging Het
C4b T A 17: 34,962,743 (GRCm39) K20* probably null Het
Caps2 C T 10: 112,015,377 (GRCm39) T139I probably benign Het
Cdc25a T C 9: 109,705,157 (GRCm39) S34P probably benign Het
Cenpv T C 11: 62,427,121 (GRCm39) I146V probably benign Het
Cep57 A T 9: 13,732,850 (GRCm39) F32I probably benign Het
Cep85 A G 4: 133,894,711 (GRCm39) W32R probably damaging Het
Cntrl T C 2: 35,059,329 (GRCm39) probably null Het
Cpd A G 11: 76,675,224 (GRCm39) V1299A probably damaging Het
Cpne6 T C 14: 55,752,092 (GRCm39) V283A probably benign Het
Crot A G 5: 9,016,941 (GRCm39) C584R probably damaging Het
Ctsc A C 7: 87,930,670 (GRCm39) H83P possibly damaging Het
Dido1 T C 2: 180,302,513 (GRCm39) N1797S probably benign Het
Dlgap4 C T 2: 156,602,821 (GRCm39) Q148* probably null Het
Dnah3 T C 7: 119,670,181 (GRCm39) D688G probably benign Het
Dnmt1 T C 9: 20,843,472 (GRCm39) E138G probably benign Het
Edc4 T A 8: 106,619,460 (GRCm39) M1396K probably damaging Het
Haao T A 17: 84,146,267 (GRCm39) Q69L probably benign Het
Hsd3b6 A T 3: 98,715,255 (GRCm39) probably null Het
Itpr3 T A 17: 27,333,199 (GRCm39) I1937N probably benign Het
Kcnk15 C A 2: 163,700,127 (GRCm39) T103K probably damaging Het
Kifc3 A G 8: 95,864,541 (GRCm39) probably null Het
Lama3 T A 18: 12,615,102 (GRCm39) F1342Y probably benign Het
Lilra6 A T 7: 3,915,718 (GRCm39) M98K probably damaging Het
Map3k21 T C 8: 126,668,417 (GRCm39) S668P probably benign Het
Mcpt8 T C 14: 56,319,791 (GRCm39) T220A probably benign Het
Mettl13 C T 1: 162,364,736 (GRCm39) V548I possibly damaging Het
Mfsd4b4 A G 10: 39,767,860 (GRCm39) M411T probably benign Het
Mrfap1 A G 5: 36,953,817 (GRCm39) S41P possibly damaging Het
Mroh2b A G 15: 4,978,137 (GRCm39) I1302V probably benign Het
Mrpl45 C T 11: 97,214,681 (GRCm39) R123* probably null Het
Mstn T A 1: 53,101,157 (GRCm39) I78K probably damaging Het
Mtdh T C 15: 34,114,191 (GRCm39) S168P possibly damaging Het
Muc15 G T 2: 110,561,905 (GRCm39) V114F probably damaging Het
Muc6 T C 7: 141,238,144 (GRCm39) E112G probably benign Het
Myocd G T 11: 65,078,330 (GRCm39) H360Q probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nav3 T C 10: 109,563,802 (GRCm39) E1627G probably damaging Het
Nlrp14 T C 7: 106,781,910 (GRCm39) L369P probably benign Het
Nlrp6 A G 7: 140,503,408 (GRCm39) T505A probably damaging Het
Npbwr1 T C 1: 5,986,900 (GRCm39) S205G probably damaging Het
Nsmaf G A 4: 6,423,448 (GRCm39) R307* probably null Het
Or5h19 A T 16: 58,856,920 (GRCm39) L60Q probably damaging Het
Or9i1b T C 19: 13,897,208 (GRCm39) S275P probably damaging Het
Parp9 T G 16: 35,774,050 (GRCm39) S341A possibly damaging Het
Pdss2 A G 10: 43,289,533 (GRCm39) N346S probably benign Het
Pikfyve T A 1: 65,263,360 (GRCm39) F503Y probably damaging Het
Polr1e G T 4: 45,028,026 (GRCm39) A290S probably damaging Het
Ppp1r21 A T 17: 88,866,033 (GRCm39) H305L probably damaging Het
Prss47 A G 13: 65,197,103 (GRCm39) L117P probably damaging Het
Psmb2 A G 4: 126,580,825 (GRCm39) Y73C probably damaging Het
Rcn2 C T 9: 55,963,537 (GRCm39) P222L probably benign Het
Rnf144b T C 13: 47,396,361 (GRCm39) Y233H probably damaging Het
Rnf17 T C 14: 56,665,436 (GRCm39) L196P probably damaging Het
Sik2 A G 9: 50,920,111 (GRCm39) I22T probably damaging Het
Sis A G 3: 72,796,360 (GRCm39) V1807A probably benign Het
Slc22a22 A G 15: 57,110,916 (GRCm39) F437S probably benign Het
Slc39a13 A T 2: 90,899,050 (GRCm39) C20* probably null Het
Sos2 C T 12: 69,632,090 (GRCm39) probably null Het
Sst A G 16: 23,709,448 (GRCm39) V16A probably benign Het
Stab1 C T 14: 30,863,543 (GRCm39) G2073D probably benign Het
Stxbp1 A T 2: 32,684,648 (GRCm39) S594T probably benign Het
Sugct A T 13: 17,627,131 (GRCm39) C241S probably benign Het
Svil T A 18: 5,048,950 (GRCm39) C76S probably benign Het
Tcaf1 A G 6: 42,663,382 (GRCm39) V166A possibly damaging Het
Tmem131 A T 1: 36,855,322 (GRCm39) N801K possibly damaging Het
Tox3 T C 8: 90,980,973 (GRCm39) N277S probably damaging Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Trpm2 C A 10: 77,801,841 (GRCm39) V75L probably damaging Het
Tshz1 A C 18: 84,031,930 (GRCm39) L826R possibly damaging Het
Ttn C T 2: 76,597,196 (GRCm39) V19906I probably damaging Het
Wnt5a C T 14: 28,240,461 (GRCm39) R184* probably null Het
Wnt5b G A 6: 119,410,442 (GRCm39) R333C probably damaging Het
Zbtb6 T C 2: 37,319,356 (GRCm39) T191A probably benign Het
Zc3h4 A G 7: 16,168,695 (GRCm39) N935D unknown Het
Zc3h7a C T 16: 10,978,890 (GRCm39) R95H probably damaging Het
Zfp110 T C 7: 12,582,468 (GRCm39) V372A possibly damaging Het
Zmym2 C T 14: 57,148,640 (GRCm39) S318L probably benign Het
Other mutations in Slc1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Slc1a2 APN 2 102,607,921 (GRCm39) missense possibly damaging 0.55
IGL00588:Slc1a2 APN 2 102,586,346 (GRCm39) missense probably benign
IGL00931:Slc1a2 APN 2 102,586,457 (GRCm39) missense probably damaging 1.00
IGL00942:Slc1a2 APN 2 102,570,159 (GRCm39) missense probably damaging 1.00
IGL02100:Slc1a2 APN 2 102,586,434 (GRCm39) missense probably damaging 1.00
IGL02173:Slc1a2 APN 2 102,574,206 (GRCm39) missense probably benign 0.05
IGL02184:Slc1a2 APN 2 102,578,889 (GRCm39) missense probably damaging 1.00
IGL02480:Slc1a2 APN 2 102,566,411 (GRCm39) missense probably damaging 1.00
IGL02643:Slc1a2 APN 2 102,570,225 (GRCm39) missense probably benign 0.30
IGL03332:Slc1a2 APN 2 102,578,879 (GRCm39) missense possibly damaging 0.96
R0335:Slc1a2 UTSW 2 102,574,208 (GRCm39) missense probably benign
R0544:Slc1a2 UTSW 2 102,586,417 (GRCm39) missense probably damaging 0.99
R0570:Slc1a2 UTSW 2 102,586,352 (GRCm39) missense probably damaging 1.00
R1536:Slc1a2 UTSW 2 102,607,855 (GRCm39) missense probably benign 0.37
R1856:Slc1a2 UTSW 2 102,607,912 (GRCm39) missense probably damaging 0.97
R1936:Slc1a2 UTSW 2 102,607,950 (GRCm39) missense probably benign 0.04
R1965:Slc1a2 UTSW 2 102,570,245 (GRCm39) missense probably damaging 1.00
R2270:Slc1a2 UTSW 2 102,566,339 (GRCm39) missense probably damaging 1.00
R2365:Slc1a2 UTSW 2 102,578,798 (GRCm39) splice site probably null
R2567:Slc1a2 UTSW 2 102,597,355 (GRCm39) missense probably damaging 1.00
R2878:Slc1a2 UTSW 2 102,591,512 (GRCm39) missense probably damaging 1.00
R3080:Slc1a2 UTSW 2 102,578,901 (GRCm39) missense probably damaging 1.00
R4716:Slc1a2 UTSW 2 102,578,883 (GRCm39) missense probably damaging 0.96
R4744:Slc1a2 UTSW 2 102,568,214 (GRCm39) missense probably benign 0.41
R5197:Slc1a2 UTSW 2 102,586,460 (GRCm39) missense probably benign 0.02
R5835:Slc1a2 UTSW 2 102,607,795 (GRCm39) missense probably damaging 1.00
R7077:Slc1a2 UTSW 2 102,607,855 (GRCm39) missense probably benign 0.37
R7155:Slc1a2 UTSW 2 102,597,340 (GRCm39) missense probably damaging 1.00
R7179:Slc1a2 UTSW 2 102,586,290 (GRCm39) missense probably damaging 1.00
R7455:Slc1a2 UTSW 2 102,566,299 (GRCm39) missense probably benign 0.16
R7492:Slc1a2 UTSW 2 102,570,275 (GRCm39) nonsense probably null
R7818:Slc1a2 UTSW 2 102,574,301 (GRCm39) missense probably benign 0.06
R7868:Slc1a2 UTSW 2 102,591,530 (GRCm39) missense probably benign 0.06
R8143:Slc1a2 UTSW 2 102,568,230 (GRCm39) missense probably damaging 1.00
R8184:Slc1a2 UTSW 2 102,568,197 (GRCm39) missense probably damaging 1.00
R8436:Slc1a2 UTSW 2 102,586,298 (GRCm39) missense possibly damaging 0.65
R8508:Slc1a2 UTSW 2 102,566,430 (GRCm39) critical splice donor site probably null
R8830:Slc1a2 UTSW 2 102,566,360 (GRCm39) missense probably benign
R8951:Slc1a2 UTSW 2 102,586,353 (GRCm39) missense probably damaging 1.00
R9424:Slc1a2 UTSW 2 102,591,394 (GRCm39) missense probably damaging 1.00
X0065:Slc1a2 UTSW 2 102,568,176 (GRCm39) missense probably benign 0.12
Z1177:Slc1a2 UTSW 2 102,591,470 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGATGCTATGTGCAATCAATACCTCG -3'
(R):5'- CCTATTTCAGAGACAGGAAAGCCATCAG -3'

Sequencing Primer
(F):5'- TTGTAGTCCATTAGCCAGACAC -3'
(R):5'- GCCATCAGAGATGCAATGATATAG -3'
Posted On 2014-03-28