Incidental Mutation 'R4744:Slc1a2'
ID 356553
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 042027-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R4744 (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 102568214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 84 (I84V)
Ref Sequence ENSEMBL: ENSMUSP00000106844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005220] [ENSMUST00000080210] [ENSMUST00000111212] [ENSMUST00000111213] [ENSMUST00000123759]
AlphaFold P43006
Predicted Effect probably benign
Transcript: ENSMUST00000005220
AA Change: I81V

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000005220
Gene: ENSMUSG00000005089
AA Change: I81V

DomainStartEndE-ValueType
Pfam:SDF 43 492 8.9e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080210
AA Change: I84V

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079100
Gene: ENSMUSG00000005089
AA Change: I84V

DomainStartEndE-ValueType
Pfam:SDF 46 495 3e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111212
AA Change: I81V

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106843
Gene: ENSMUSG00000005089
AA Change: I81V

DomainStartEndE-ValueType
Pfam:SDF 43 492 9.5e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111213
AA Change: I84V

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106844
Gene: ENSMUSG00000005089
AA Change: I84V

DomainStartEndE-ValueType
Pfam:SDF 46 495 2e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123759
AA Change: I75V

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115129
Gene: ENSMUSG00000005089
AA Change: I75V

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: ENSMUST00000136221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145921
Meta Mutation Damage Score 0.4103 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (82/83)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,017,617 (GRCm39) S143P possibly damaging Het
4933427D14Rik T C 11: 72,066,365 (GRCm39) K614E probably damaging Het
Aatk A G 11: 119,906,948 (GRCm39) M155T possibly damaging Het
Acvr2b T C 9: 119,260,328 (GRCm39) L333P probably damaging Het
Adam22 T C 5: 8,128,699 (GRCm39) E865G probably damaging Het
Add2 A G 6: 86,087,870 (GRCm39) S358G probably damaging Het
Agap2 T C 10: 126,926,072 (GRCm39) probably null Het
Alkbh8 G A 9: 3,344,604 (GRCm39) W49* probably null Het
AU015228 A T 2: 129,942,549 (GRCm39) noncoding transcript Het
Bank1 G T 3: 135,953,450 (GRCm39) R102S probably benign Het
Brap T A 5: 121,800,193 (GRCm39) D27E probably damaging Het
Cyb5r2 G T 7: 107,349,484 (GRCm39) H276N possibly damaging Het
Dhh A G 15: 98,792,139 (GRCm39) F290L possibly damaging Het
Dhrs7 T A 12: 72,699,025 (GRCm39) N319I possibly damaging Het
Ebpl A G 14: 61,597,682 (GRCm39) V53A probably damaging Het
Eif3j2 TGCCGCCGCCGCCGCCGCCGCCGCCGCC TGCCGCCGCCGCCGCCGCCGCCGCC 18: 43,610,782 (GRCm39) probably benign Het
Etnk1 A C 6: 143,132,319 (GRCm39) N220T probably damaging Het
F11r T A 1: 171,288,166 (GRCm39) V64D probably benign Het
Fam171a1 T C 2: 3,225,946 (GRCm39) S360P probably damaging Het
Fignl1 A G 11: 11,751,585 (GRCm39) M490T probably damaging Het
Fpr-rs7 A T 17: 20,334,265 (GRCm39) M75K probably benign Het
Fzd7 T A 1: 59,523,595 (GRCm39) F493I possibly damaging Het
Galnt14 G T 17: 73,814,828 (GRCm39) P412T probably damaging Het
Gcg T A 2: 62,308,975 (GRCm39) S60C probably damaging Het
Ggt1 A G 10: 75,421,733 (GRCm39) K527E probably benign Het
Gm16551 T A 9: 74,758,153 (GRCm39) noncoding transcript Het
Gm9972 A G 11: 42,927,517 (GRCm39) K55E unknown Het
Gpr141 T A 13: 19,935,884 (GRCm39) D297V probably benign Het
Grin2b G A 6: 135,755,697 (GRCm39) S539L probably damaging Het
Hhipl1 A T 12: 108,286,238 (GRCm39) N515I possibly damaging Het
Hmcn1 T G 1: 150,453,363 (GRCm39) E5317D probably damaging Het
Hsf5 T A 11: 87,513,617 (GRCm39) N227K probably benign Het
Igfn1 A T 1: 135,910,196 (GRCm39) D129E probably benign Het
Invs T C 4: 48,397,609 (GRCm39) F339L probably damaging Het
Jak2 T A 19: 29,239,656 (GRCm39) S17T probably benign Het
Mdga2 T A 12: 66,844,501 (GRCm39) I166F probably benign Het
Nck1 T C 9: 100,388,797 (GRCm39) I6V probably benign Het
Neb T C 2: 52,040,589 (GRCm39) D6624G probably benign Het
Nmur2 A G 11: 55,931,661 (GRCm39) Y17H probably benign Het
Nwd2 T C 5: 63,964,310 (GRCm39) L1298P probably damaging Het
Ocel1 A G 8: 71,825,397 (GRCm39) E161G probably damaging Het
Or1j16 A T 2: 36,530,991 (GRCm39) probably null Het
Pabpc2 A G 18: 39,907,881 (GRCm39) Y382C probably benign Het
Panx1 A G 9: 14,921,594 (GRCm39) probably benign Het
Pdhx A T 2: 102,872,641 (GRCm39) V147D probably benign Het
Pigz A T 16: 31,764,151 (GRCm39) H403L probably damaging Het
Pilra T C 5: 137,833,769 (GRCm39) probably null Het
Rbm47 T C 5: 66,184,036 (GRCm39) D189G probably damaging Het
Rhobtb2 A G 14: 70,031,451 (GRCm39) L558P probably damaging Het
Scarf2 G A 16: 17,621,380 (GRCm39) R322H probably damaging Het
Septin3 T C 15: 82,174,658 (GRCm39) probably null Het
Sirt2 T C 7: 28,476,438 (GRCm39) F26L probably damaging Het
Slc1a1 A T 19: 28,871,925 (GRCm39) T133S probably benign Het
Slc28a2b A T 2: 122,353,286 (GRCm39) K489* probably null Het
Slc6a9 A T 4: 117,725,092 (GRCm39) Q562L probably benign Het
Snx29 C T 16: 11,167,773 (GRCm39) Q25* probably null Het
St6galnac6 A G 2: 32,508,555 (GRCm39) I231V probably damaging Het
Stard9 A G 2: 120,526,604 (GRCm39) T954A probably benign Het
Sufu A G 19: 46,472,069 (GRCm39) M443V possibly damaging Het
Sv2b T C 7: 74,856,266 (GRCm39) D8G probably benign Het
Tapbpl G A 6: 125,205,248 (GRCm39) R233W probably damaging Het
Tex10 A G 4: 48,469,990 (GRCm39) L25S probably benign Het
Trp53bp1 A T 2: 121,041,794 (GRCm39) V1254D probably damaging Het
Ugt3a1 T A 15: 9,310,639 (GRCm39) I307N probably benign Het
Unc13c T C 9: 73,839,126 (GRCm39) D575G probably damaging Het
Usf2 A T 7: 30,654,197 (GRCm39) D166E probably damaging Het
Usp25 T A 16: 76,911,877 (GRCm39) L969M probably damaging Het
Usp32 G A 11: 84,885,219 (GRCm39) P1276L probably damaging Het
Vmn2r8 T A 5: 108,956,447 (GRCm39) E58D probably benign Het
Zfp462 G T 4: 55,011,598 (GRCm39) C40F 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
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
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'- TAGTCCATTAGCCAGACACATG -3'
(R):5'- TTTCAGAGACAGGAAAGCCATCAG -3'

Sequencing Primer
(F):5'- TCACAACCACTGGAAGGAATCTTTAG -3'
(R):5'- GCCATCAGAGATGCAATGATATAG -3'
Posted On 2015-11-11