Incidental Mutation 'IGL02532:Gria2'
ID 297349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gria2
Ensembl Gene ENSMUSG00000033981
Gene Name glutamate receptor, ionotropic, AMPA2 (alpha 2)
Synonyms Glur-2, GluA2, GluR2, GluR-B, Glur2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.259) question?
Stock # IGL02532
Quality Score
Status
Chromosome 3
Chromosomal Location 80588757-80710142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80614306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 578 (E578V)
Ref Sequence ENSEMBL: ENSMUSP00000141447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075316] [ENSMUST00000107745] [ENSMUST00000192463]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000075316
AA Change: E578V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: E578V

DomainStartEndE-ValueType
Pfam:ANF_receptor 49 379 2.7e-58 PFAM
PBPe 415 790 3.75e-132 SMART
Lig_chan-Glu_bd 425 490 2.96e-31 SMART
low complexity region 820 832 N/A INTRINSIC
low complexity region 853 865 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107745
AA Change: E578V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: E578V

DomainStartEndE-ValueType
Pfam:ANF_receptor 47 379 4.8e-53 PFAM
PBPe 415 790 8.16e-133 SMART
Lig_chan-Glu_bd 425 490 2.96e-31 SMART
low complexity region 820 832 N/A INTRINSIC
low complexity region 853 865 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000192463
AA Change: E578V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: E578V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:ANF_receptor 47 379 1.7e-51 PFAM
PBPe 415 770 1.2e-105 SMART
Lig_chan-Glu_bd 425 490 2.2e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195062
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, Gria1-4. The subunit encoded by this gene (Gria2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit epilepsy, deficient dendritic architecture, altered exploratory behavior, impaired motor and learning performance, and increased mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik T C 7: 28,947,645 (GRCm39) K15E possibly damaging Het
Abca2 A G 2: 25,325,148 (GRCm39) T381A probably benign Het
Adcy1 T A 11: 7,094,737 (GRCm39) N554K probably benign Het
Adcy5 A G 16: 35,092,453 (GRCm39) I605V possibly damaging Het
Arhgap11a G T 2: 113,664,021 (GRCm39) S754* probably null Het
Arhgef28 T A 13: 98,166,391 (GRCm39) D319V probably damaging Het
Brca2 A G 5: 150,474,327 (GRCm39) D2410G probably damaging Het
Carmil2 T A 8: 106,419,063 (GRCm39) probably null Het
Catip A G 1: 74,403,775 (GRCm39) N189S probably damaging Het
Cd177 T C 7: 24,444,674 (GRCm39) K636E probably benign Het
Cep290 A G 10: 100,380,927 (GRCm39) T145A probably benign Het
Cthrc1 T C 15: 38,940,560 (GRCm39) probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fas C A 19: 34,293,999 (GRCm39) T118N probably damaging Het
Fgd3 G A 13: 49,439,237 (GRCm39) A253V probably damaging Het
Fig4 A G 10: 41,161,277 (GRCm39) probably benign Het
Fubp3 T C 2: 31,490,571 (GRCm39) probably benign Het
Gtpbp1 T A 15: 79,604,278 (GRCm39) V662E probably benign Het
Hbb-bt T C 7: 103,463,081 (GRCm39) probably benign Het
Ighv6-5 T A 12: 114,380,424 (GRCm39) D50V probably benign Het
Inpp5k T C 11: 75,524,010 (GRCm39) probably benign Het
Kalrn T C 16: 34,181,216 (GRCm39) N141D probably damaging Het
Kbtbd8 A G 6: 95,103,517 (GRCm39) T389A probably benign Het
Klhl6 C A 16: 19,775,832 (GRCm39) R242L possibly damaging Het
Kmt2b T C 7: 30,286,314 (GRCm39) probably benign Het
Krt13 A T 11: 100,010,195 (GRCm39) L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 (GRCm39) K270E possibly damaging Het
Mroh7 A G 4: 106,577,788 (GRCm39) S297P probably benign Het
Ndufs1 G A 1: 63,209,298 (GRCm39) R22C probably damaging Het
Nlrp5 T A 7: 23,109,398 (GRCm39) S115T possibly damaging Het
Nup50l A C 6: 96,141,771 (GRCm39) S424R probably damaging Het
Pfpl A T 19: 12,406,209 (GRCm39) R153S probably damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Psme1 T A 14: 55,818,595 (GRCm39) Y223* probably null Het
R3hdm1 T C 1: 128,124,836 (GRCm39) probably null Het
Rnf103 A G 6: 71,486,809 (GRCm39) D480G probably benign Het
Rnf103 T G 6: 71,486,636 (GRCm39) S422R probably damaging Het
Rps6ka2 T C 17: 7,523,365 (GRCm39) V213A probably damaging Het
Sort1 G T 3: 108,233,036 (GRCm39) K203N probably benign Het
Sugp1 A T 8: 70,512,469 (GRCm39) K239N possibly damaging Het
Sult2a8 C T 7: 14,150,183 (GRCm39) R176K probably benign Het
Usp34 T A 11: 23,320,291 (GRCm39) N888K probably damaging Het
Vmn1r4 A C 6: 56,934,135 (GRCm39) H213P possibly damaging Het
Wdr45b G T 11: 121,219,639 (GRCm39) T303K probably benign Het
Other mutations in Gria2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Gria2 APN 3 80,618,097 (GRCm39) missense probably benign 0.12
IGL00832:Gria2 APN 3 80,614,558 (GRCm39) missense probably damaging 1.00
IGL01086:Gria2 APN 3 80,599,688 (GRCm39) missense probably damaging 1.00
IGL01409:Gria2 APN 3 80,615,004 (GRCm39) critical splice donor site probably null
IGL01924:Gria2 APN 3 80,617,638 (GRCm39) missense probably benign 0.13
IGL01999:Gria2 APN 3 80,639,398 (GRCm39) missense probably damaging 1.00
IGL02355:Gria2 APN 3 80,614,244 (GRCm39) missense probably damaging 1.00
IGL02362:Gria2 APN 3 80,614,244 (GRCm39) missense probably damaging 1.00
IGL02389:Gria2 APN 3 80,616,729 (GRCm39) missense probably benign 0.14
IGL02444:Gria2 APN 3 80,609,860 (GRCm39) missense possibly damaging 0.65
IGL02991:Gria2 UTSW 3 80,615,116 (GRCm39) nonsense probably null
R0015:Gria2 UTSW 3 80,615,074 (GRCm39) missense probably damaging 1.00
R0148:Gria2 UTSW 3 80,615,038 (GRCm39) missense probably damaging 1.00
R0201:Gria2 UTSW 3 80,615,145 (GRCm39) missense probably damaging 1.00
R0411:Gria2 UTSW 3 80,618,165 (GRCm39) splice site probably benign
R0551:Gria2 UTSW 3 80,639,333 (GRCm39) splice site probably benign
R0655:Gria2 UTSW 3 80,639,377 (GRCm39) nonsense probably null
R0866:Gria2 UTSW 3 80,629,331 (GRCm39) splice site probably benign
R1393:Gria2 UTSW 3 80,614,405 (GRCm39) missense probably damaging 1.00
R1458:Gria2 UTSW 3 80,639,352 (GRCm39) missense possibly damaging 0.71
R1563:Gria2 UTSW 3 80,598,704 (GRCm39) missense probably damaging 0.96
R1771:Gria2 UTSW 3 80,599,608 (GRCm39) nonsense probably null
R1775:Gria2 UTSW 3 80,598,645 (GRCm39) missense probably benign 0.09
R1902:Gria2 UTSW 3 80,629,415 (GRCm39) missense probably damaging 0.98
R1993:Gria2 UTSW 3 80,709,664 (GRCm39) missense probably benign
R1994:Gria2 UTSW 3 80,709,664 (GRCm39) missense probably benign
R1995:Gria2 UTSW 3 80,709,664 (GRCm39) missense probably benign
R2001:Gria2 UTSW 3 80,618,112 (GRCm39) missense probably benign 0.28
R2389:Gria2 UTSW 3 80,609,932 (GRCm39) missense probably damaging 1.00
R2520:Gria2 UTSW 3 80,614,269 (GRCm39) missense probably damaging 1.00
R2679:Gria2 UTSW 3 80,648,260 (GRCm39) splice site probably benign
R2865:Gria2 UTSW 3 80,639,392 (GRCm39) missense probably benign 0.00
R2869:Gria2 UTSW 3 80,609,799 (GRCm39) missense probably damaging 1.00
R2869:Gria2 UTSW 3 80,609,799 (GRCm39) missense probably damaging 1.00
R2870:Gria2 UTSW 3 80,609,799 (GRCm39) missense probably damaging 1.00
R2870:Gria2 UTSW 3 80,609,799 (GRCm39) missense probably damaging 1.00
R2871:Gria2 UTSW 3 80,609,799 (GRCm39) missense probably damaging 1.00
R2871:Gria2 UTSW 3 80,609,799 (GRCm39) missense probably damaging 1.00
R2872:Gria2 UTSW 3 80,609,799 (GRCm39) missense probably damaging 1.00
R2872:Gria2 UTSW 3 80,609,799 (GRCm39) missense probably damaging 1.00
R3716:Gria2 UTSW 3 80,648,311 (GRCm39) missense possibly damaging 0.77
R3967:Gria2 UTSW 3 80,618,084 (GRCm39) missense possibly damaging 0.95
R4285:Gria2 UTSW 3 80,614,969 (GRCm39) intron probably benign
R4611:Gria2 UTSW 3 80,599,799 (GRCm39) missense probably damaging 0.99
R4612:Gria2 UTSW 3 80,639,358 (GRCm39) missense probably damaging 1.00
R4616:Gria2 UTSW 3 80,614,204 (GRCm39) missense probably damaging 1.00
R4706:Gria2 UTSW 3 80,648,297 (GRCm39) missense probably benign
R4996:Gria2 UTSW 3 80,614,448 (GRCm39) missense probably damaging 0.99
R5502:Gria2 UTSW 3 80,614,252 (GRCm39) missense probably damaging 1.00
R5930:Gria2 UTSW 3 80,614,556 (GRCm39) missense possibly damaging 0.91
R6142:Gria2 UTSW 3 80,709,024 (GRCm39) missense probably benign 0.13
R6233:Gria2 UTSW 3 80,614,510 (GRCm39) missense probably damaging 0.99
R6317:Gria2 UTSW 3 80,648,311 (GRCm39) missense possibly damaging 0.79
R6453:Gria2 UTSW 3 80,648,281 (GRCm39) missense possibly damaging 0.93
R6526:Gria2 UTSW 3 80,599,776 (GRCm39) missense probably damaging 1.00
R6545:Gria2 UTSW 3 80,648,451 (GRCm39) missense probably damaging 0.99
R6574:Gria2 UTSW 3 80,596,603 (GRCm39) missense probably damaging 0.99
R6720:Gria2 UTSW 3 80,709,611 (GRCm39) missense probably benign 0.37
R7009:Gria2 UTSW 3 80,614,279 (GRCm39) missense probably damaging 1.00
R7049:Gria2 UTSW 3 80,596,634 (GRCm39) missense probably damaging 0.99
R7191:Gria2 UTSW 3 80,639,392 (GRCm39) missense probably benign 0.24
R7225:Gria2 UTSW 3 80,709,938 (GRCm39) unclassified probably benign
R7374:Gria2 UTSW 3 80,648,383 (GRCm39) missense probably benign
R7837:Gria2 UTSW 3 80,618,095 (GRCm39) missense probably benign 0.18
R8034:Gria2 UTSW 3 80,709,006 (GRCm39) missense probably damaging 1.00
R8125:Gria2 UTSW 3 80,614,550 (GRCm39) missense possibly damaging 0.88
R8189:Gria2 UTSW 3 80,629,489 (GRCm39) missense probably damaging 1.00
R8209:Gria2 UTSW 3 80,616,764 (GRCm39) missense probably benign 0.01
R8362:Gria2 UTSW 3 80,615,197 (GRCm39) missense possibly damaging 0.82
R8481:Gria2 UTSW 3 80,708,998 (GRCm39) missense possibly damaging 0.95
R8500:Gria2 UTSW 3 80,599,774 (GRCm39) missense probably damaging 0.99
R8516:Gria2 UTSW 3 80,614,294 (GRCm39) missense probably benign 0.27
R8918:Gria2 UTSW 3 80,599,706 (GRCm39) missense probably damaging 1.00
R8939:Gria2 UTSW 3 80,618,170 (GRCm39) intron probably benign
R8971:Gria2 UTSW 3 80,615,200 (GRCm39) missense probably damaging 0.98
R9229:Gria2 UTSW 3 80,709,689 (GRCm39) start codon destroyed probably null 0.60
Posted On 2015-04-16