Incidental Mutation 'R3080:Slc1a2'
ID 265365
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 040570-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R3080 (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 G at 102578901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 272 (L272R)
Ref Sequence ENSEMBL: ENSMUSP00000106844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005220] [ENSMUST00000080210] [ENSMUST00000111212] [ENSMUST00000111213]
AlphaFold P43006
Predicted Effect probably damaging
Transcript: ENSMUST00000005220
AA Change: L269R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005220
Gene: ENSMUSG00000005089
AA Change: L269R

DomainStartEndE-ValueType
Pfam:SDF 43 492 8.9e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080210
AA Change: L272R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079100
Gene: ENSMUSG00000005089
AA Change: L272R

DomainStartEndE-ValueType
Pfam:SDF 46 495 3e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111212
AA Change: L269R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106843
Gene: ENSMUSG00000005089
AA Change: L269R

DomainStartEndE-ValueType
Pfam:SDF 43 492 9.5e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111213
AA Change: L272R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106844
Gene: ENSMUSG00000005089
AA Change: L272R

DomainStartEndE-ValueType
Pfam:SDF 46 495 2e-134 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147082
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amer3 T G 1: 34,627,503 (GRCm39) L581V probably benign Het
Anks4b A T 7: 119,781,146 (GRCm39) D59V probably damaging Het
Cdc42bpb A G 12: 111,262,252 (GRCm39) I75T probably damaging Het
Ces1c A C 8: 93,846,975 (GRCm39) L93R probably damaging Het
Ciao2b G C 8: 105,368,259 (GRCm39) R22G possibly damaging Het
Clca4a T A 3: 144,669,551 (GRCm39) K333N probably damaging Het
Copa G T 1: 171,940,716 (GRCm39) D710Y probably damaging Het
Cyp3a25 T A 5: 145,935,341 (GRCm39) I92F probably benign Het
Dcx T A X: 142,706,266 (GRCm39) D175V probably damaging Het
Fam76b G A 9: 13,744,458 (GRCm39) G185D probably benign Het
Fastkd5 T C 2: 130,457,373 (GRCm39) M406V possibly damaging Het
Fbn2 G A 18: 58,282,122 (GRCm39) S298L probably damaging Het
Gak T C 5: 108,761,468 (GRCm39) K188E possibly damaging Het
Gemin2 G A 12: 59,071,877 (GRCm39) C230Y probably damaging Het
Gm5150 A C 3: 16,045,085 (GRCm39) S47A possibly damaging Het
H3c2 A G 13: 23,936,481 (GRCm39) H40R possibly damaging Het
Herc3 A T 6: 58,833,631 (GRCm39) probably null Het
Ighv5-6 T A 12: 113,589,237 (GRCm39) D81V probably damaging Het
Igkv13-54-1 A G 6: 69,594,454 (GRCm39) probably null Het
Itgad T C 7: 127,784,959 (GRCm39) I288T possibly damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Ltbp3 GTA GTATA 19: 5,806,916 (GRCm39) probably null Het
Map4k2 G A 19: 6,403,218 (GRCm39) E774K probably damaging Het
Mbtps1 A G 8: 120,257,944 (GRCm39) V431A probably benign Het
Mbtps1 T C 8: 120,265,602 (GRCm39) D315G probably damaging Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or14j4 T C 17: 37,921,169 (GRCm39) T158A probably benign Het
Or6d14 T G 6: 116,534,178 (GRCm39) V264G probably damaging Het
Pcdhb3 T G 18: 37,434,535 (GRCm39) L167R probably damaging Het
Pcdhb8 A T 18: 37,489,219 (GRCm39) E299V probably damaging Het
Shcbp1l A G 1: 153,311,783 (GRCm39) E312G possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc35a5 A T 16: 44,964,758 (GRCm39) S152T probably benign Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tbr1 C T 2: 61,637,635 (GRCm39) Q65* probably null Het
Tro G A X: 149,438,198 (GRCm39) T153I probably benign Het
Vmn1r222 A G 13: 23,416,631 (GRCm39) M194T possibly damaging Het
Vmn2r1 A G 3: 63,997,205 (GRCm39) D287G probably damaging Het
Vmn2r91 T G 17: 18,355,973 (GRCm39) probably null Het
Zfp35 T A 18: 24,136,367 (GRCm39) I237N probably damaging 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
R1472:Slc1a2 UTSW 2 102,568,254 (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
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'- ATTGGCCCTGTACATCAATCATGC -3'
(R):5'- TTGGCCCAATGAGCACTATTG -3'

Sequencing Primer
(F):5'- CCCTGTACATCAATCATGCTAAAGTG -3'
(R):5'- GGGAGAAGAGTTTTACACCCCTTTC -3'
Posted On 2015-02-05