Incidental Mutation 'R0544:Slc1a2'
ID 44651
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 038736-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R0544 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 102489004-102621129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102586417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 340 (R340S)
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: R337S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005220
Gene: ENSMUSG00000005089
AA Change: R337S

DomainStartEndE-ValueType
Pfam:SDF 43 492 8.9e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080210
AA Change: R340S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079100
Gene: ENSMUSG00000005089
AA Change: R340S

DomainStartEndE-ValueType
Pfam:SDF 46 495 3e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111212
AA Change: R337S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106843
Gene: ENSMUSG00000005089
AA Change: R337S

DomainStartEndE-ValueType
Pfam:SDF 43 492 9.5e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111213
AA Change: R340S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106844
Gene: ENSMUSG00000005089
AA Change: R340S

DomainStartEndE-ValueType
Pfam:SDF 46 495 2e-134 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000136488
AA Change: R55S
SMART Domains Protein: ENSMUSP00000122094
Gene: ENSMUSG00000005089
AA Change: R55S

DomainStartEndE-ValueType
Pfam:SDF 1 144 2.6e-53 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (97/99)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,394,763 (GRCm39) F130L probably benign Het
Aatf C T 11: 84,313,831 (GRCm39) R511Q probably benign Het
Acot12 A T 13: 91,932,775 (GRCm39) D516V probably benign Het
Adgrb2 T C 4: 129,911,335 (GRCm39) V1207A probably damaging Het
Akap9 A G 5: 4,119,185 (GRCm39) D3564G probably benign Het
Arl8b C T 6: 108,760,189 (GRCm39) probably benign Het
Atf6b T C 17: 34,867,273 (GRCm39) probably null Het
Atrn G A 2: 130,828,746 (GRCm39) G1097D probably damaging Het
Btbd6 A G 12: 112,940,702 (GRCm39) E61G probably damaging Het
Car15 A G 16: 17,653,680 (GRCm39) probably benign Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Carmil2 C T 8: 106,417,867 (GRCm39) A654V probably damaging Het
Ccdc88b A G 19: 6,834,634 (GRCm39) L124P probably damaging Het
Ccnd1 A G 7: 144,491,023 (GRCm39) probably benign Het
Cenph A G 13: 100,909,249 (GRCm39) S53P probably damaging Het
Chrm3 T A 13: 9,927,615 (GRCm39) I474F probably damaging Het
Cln8 T A 8: 14,946,769 (GRCm39) V261E probably benign Het
Coa6 A G 8: 127,149,499 (GRCm39) D25G probably benign Het
Col4a1 T G 8: 11,276,487 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,235,055 (GRCm39) H588R probably damaging Het
Cul7 T C 17: 46,974,470 (GRCm39) L1516P possibly damaging Het
Dcdc5 A G 2: 106,181,909 (GRCm39) noncoding transcript Het
Ddx5 T C 11: 106,673,288 (GRCm39) probably benign Het
Dhx16 C A 17: 36,192,551 (GRCm39) P161Q probably benign Het
Dpy19l1 A T 9: 24,396,406 (GRCm39) probably benign Het
Fastkd5 A G 2: 130,457,216 (GRCm39) V458A probably damaging Het
Fhit A G 14: 9,870,172 (GRCm38) V99A probably damaging Het
Fndc3a A T 14: 72,795,062 (GRCm39) probably benign Het
Foxd4 A T 19: 24,877,182 (GRCm39) S339R possibly damaging Het
Gm10842 T A 11: 105,037,880 (GRCm39) D54E unknown Het
Gns T A 10: 121,212,172 (GRCm39) Y94* probably null Het
Gp2 A G 7: 119,053,719 (GRCm39) W81R probably benign Het
Hdac5 T G 11: 102,086,922 (GRCm39) Q46P probably damaging Het
Homer2 A C 7: 81,299,426 (GRCm39) V13G probably damaging Het
Irs3 A G 5: 137,642,101 (GRCm39) S446P probably benign Het
Ism2 G T 12: 87,332,113 (GRCm39) D141E probably damaging Het
Jak1 T A 4: 101,048,822 (GRCm39) M19L probably benign Het
Kcnd3 C A 3: 105,566,075 (GRCm39) R419S probably damaging Het
Lamb1 T C 12: 31,332,694 (GRCm39) F272S probably damaging Het
Ldlrad2 T G 4: 137,299,579 (GRCm39) T82P possibly damaging Het
Lrp2 T C 2: 69,322,275 (GRCm39) K1885E probably benign Het
Mbd5 T C 2: 49,147,221 (GRCm39) V477A possibly damaging Het
Mrps33 A T 6: 39,782,488 (GRCm39) M11K possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myom2 T A 8: 15,119,796 (GRCm39) V184E probably damaging Het
Ncor1 C A 11: 62,224,602 (GRCm39) G1210V probably damaging Het
Ncor1 C T 11: 62,224,603 (GRCm39) G1210R probably damaging Het
Nlrp4a A G 7: 26,156,555 (GRCm39) D760G probably benign Het
Noc4l A G 5: 110,798,989 (GRCm39) V231A possibly damaging Het
Or2at1 T C 7: 99,416,867 (GRCm39) I166T probably benign Het
Or4c112 T C 2: 88,854,170 (GRCm39) Y59C probably damaging Het
Or4f14 A T 2: 111,742,905 (GRCm39) Y123* probably null Het
Or4n4b A T 14: 50,536,139 (GRCm39) V209E probably benign Het
Or52ab7 T A 7: 102,977,858 (GRCm39) I55N probably damaging Het
Or5b98 A G 19: 12,931,066 (GRCm39) T38A possibly damaging Het
Or5h25 T A 16: 58,930,588 (GRCm39) K128N probably benign Het
Or8k23 T C 2: 86,186,007 (GRCm39) T240A probably damaging Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Patj T A 4: 98,457,347 (GRCm39) M1283K probably damaging Het
Pkd1 C T 17: 24,804,657 (GRCm39) T790I probably damaging Het
Plod3 C A 5: 137,020,465 (GRCm39) T526K probably benign Het
Plxnb2 C A 15: 89,042,816 (GRCm39) probably benign Het
Polr1g G T 7: 19,093,066 (GRCm39) P38Q probably damaging Het
Pramel1 T A 4: 143,124,175 (GRCm39) D283E possibly damaging Het
Prpf40a T C 2: 53,031,663 (GRCm39) probably benign Het
Psg23 A T 7: 18,348,607 (GRCm39) Y67N probably damaging Het
Rftn1 T A 17: 50,301,289 (GRCm39) Q242L possibly damaging Het
Rp1l1 A T 14: 64,269,515 (GRCm39) E1700D probably benign Het
Scube3 T C 17: 28,383,127 (GRCm39) F435S probably damaging Het
Sdk2 T C 11: 113,671,836 (GRCm39) Y2104C probably damaging Het
Septin11 A G 5: 93,313,227 (GRCm39) E358G possibly damaging Het
Sh3bp1 T C 15: 78,789,975 (GRCm39) L246P probably damaging Het
Sis T C 3: 72,858,975 (GRCm39) Y352C probably damaging Het
Skint1 T C 4: 111,878,562 (GRCm39) S165P probably damaging Het
Skint10 C T 4: 112,586,008 (GRCm39) probably benign Het
Slc26a3 C A 12: 31,497,739 (GRCm39) Q48K probably benign Het
Slc5a2 A T 7: 127,869,171 (GRCm39) Y317F probably damaging Het
Sorbs3 T A 14: 70,431,375 (GRCm39) T262S probably benign Het
Tas2r118 G T 6: 23,969,400 (GRCm39) S220R probably damaging Het
Terf2ip C A 8: 112,741,974 (GRCm39) Q223K possibly damaging Het
Tespa1 A G 10: 130,196,680 (GRCm39) Q206R probably damaging Het
Tex10 T C 4: 48,462,766 (GRCm39) probably null Het
Tle1 T A 4: 72,043,227 (GRCm39) K547N probably damaging Het
Tmem131l T A 3: 83,805,853 (GRCm39) Q1530L probably damaging Het
Tomm20l A G 12: 71,169,851 (GRCm39) E145G possibly damaging Het
Tra2a C T 6: 49,227,885 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim37 T A 11: 87,036,328 (GRCm39) Y121* probably null Het
Tube1 C T 10: 39,016,941 (GRCm39) probably null Het
Usp6nl T A 2: 6,425,820 (GRCm39) V187D probably damaging Het
Vmn1r13 T C 6: 57,187,248 (GRCm39) F136L probably benign Het
Vmn1r201 A T 13: 22,659,316 (GRCm39) I177F probably benign Het
Vmn1r203 A T 13: 22,708,443 (GRCm39) T75S possibly damaging Het
Vmn1r225 C T 17: 20,722,718 (GRCm39) S53L probably benign Het
Xab2 A T 8: 3,660,994 (GRCm39) W707R probably damaging Het
Zfp808 T C 13: 62,317,248 (GRCm39) probably benign Het
Zng1 A G 19: 24,926,575 (GRCm39) Y159H possibly 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
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
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'- TGCCTTTGGACTTAATCGCCAGAAC -3'
(R):5'- TTCAGCAGTGTGCAGGAGAAGC -3'

Sequencing Primer
(F):5'- AGCAAAACAGAgtgtgtgtg -3'
(R):5'- TTCCCATATGTTGTGAAAAGGTG -3'
Posted On 2013-06-11