Incidental Mutation 'R1936:Slc1a2'
ID 215765
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 039954-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R1936 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 102489004-102621129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102607950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 530 (N530D)
Ref Sequence ENSEMBL: ENSMUSP00000106843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005220] [ENSMUST00000080210] [ENSMUST00000111212] [ENSMUST00000111213]
AlphaFold P43006
Predicted Effect probably benign
Transcript: ENSMUST00000005220
AA Change: N530D

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000005220
Gene: ENSMUSG00000005089
AA Change: N530D

DomainStartEndE-ValueType
Pfam:SDF 43 492 8.9e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080210
AA Change: N533D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000079100
Gene: ENSMUSG00000005089
AA Change: N533D

DomainStartEndE-ValueType
Pfam:SDF 46 495 3e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111212
AA Change: N530D

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106843
Gene: ENSMUSG00000005089
AA Change: N530D

DomainStartEndE-ValueType
Pfam:SDF 43 492 9.5e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111213
AA Change: N533D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106844
Gene: ENSMUSG00000005089
AA Change: N533D

DomainStartEndE-ValueType
Pfam:SDF 46 495 2e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136488
SMART Domains Protein: ENSMUSP00000122094
Gene: ENSMUSG00000005089

DomainStartEndE-ValueType
Pfam:SDF 1 144 2.6e-53 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000154446
AA Change: N117D
SMART Domains Protein: ENSMUSP00000117549
Gene: ENSMUSG00000005089
AA Change: N117D

DomainStartEndE-ValueType
Pfam:SDF 1 80 5.5e-28 PFAM
Meta Mutation Damage Score 0.0918 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.5%
Validation Efficiency 99% (98/99)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,894,061 (GRCm39) Q226R possibly damaging Het
Abca13 G A 11: 9,243,595 (GRCm39) M1819I probably benign Het
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Cacna2d4 A G 6: 119,247,722 (GRCm39) D341G possibly damaging Het
Cdc42bpg A G 19: 6,360,339 (GRCm39) Y175C probably damaging Het
Cep170b G T 12: 112,702,172 (GRCm39) D322Y probably damaging Het
Cflar T A 1: 58,791,784 (GRCm39) Y362* probably null Het
Chml A T 1: 175,514,825 (GRCm39) C365* probably null Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dennd1c G A 17: 57,380,889 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,323 (GRCm39) M761K possibly damaging Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Epha8 T C 4: 136,667,554 (GRCm39) D309G probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gimap3 A T 6: 48,742,683 (GRCm39) F82L probably damaging Het
Gm4862 T C 3: 138,834,253 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr152 A G 19: 4,192,531 (GRCm39) D24G probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
Hip1r T A 5: 124,134,134 (GRCm39) M270K probably damaging Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Itprid1 G T 6: 55,874,666 (GRCm39) L205F probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Mark3 A G 12: 111,584,799 (GRCm39) M132V probably damaging Het
Mast3 A G 8: 71,237,444 (GRCm39) Y577H probably damaging Het
Med24 A T 11: 98,609,642 (GRCm39) probably null Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or10ad1c T A 15: 98,085,462 (GRCm39) H72L probably benign Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or5t15 A G 2: 86,681,745 (GRCm39) M99T probably benign Het
Or8b12i A G 9: 20,082,477 (GRCm39) L130P probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pphln1 A G 15: 93,386,868 (GRCm39) D234G possibly damaging Het
Prdm2 T C 4: 142,861,032 (GRCm39) S753G probably benign Het
Prss32 A G 17: 24,075,024 (GRCm39) R125G possibly damaging Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Psmd11 T C 11: 80,319,570 (GRCm39) L20P probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Sdr9c7 A G 10: 127,739,503 (GRCm39) K206R probably benign Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Smchd1 T C 17: 71,770,786 (GRCm39) Y132C probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Speg C T 1: 75,408,052 (GRCm39) T3249I possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tdrd6 A G 17: 43,937,358 (GRCm39) L1230P probably damaging Het
Tesk2 A G 4: 116,599,021 (GRCm39) Y43C probably benign Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmprss11f T A 5: 86,692,723 (GRCm39) Q67L probably benign Het
Tnfrsf23 A G 7: 143,222,291 (GRCm39) F174L probably benign Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trim25 A T 11: 88,895,576 (GRCm39) T206S probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trpc4 T A 3: 54,187,311 (GRCm39) M421K probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vmn2r94 G A 17: 18,464,554 (GRCm39) R579* probably null Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp26 A G 9: 20,348,849 (GRCm39) Y572H probably benign Het
Zfp292 A G 4: 34,807,452 (GRCm39) V1864A probably benign Het
Zfp952 A T 17: 33,222,643 (GRCm39) H374L possibly damaging Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I 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
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
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'- TAGAAAGGGCAATTTCTAACGCAAC -3'
(R):5'- GAGCTTGGGTGACATGATTCC -3'

Sequencing Primer
(F):5'- GGGCAATTTCTAACGCAACCTTTG -3'
(R):5'- GGGTGACATGATTCCTTACAAAGC -3'
Posted On 2014-07-14