Incidental Mutation 'R2872:Gria2'
ID 266648
Institutional Source Beutler Lab
Gene Symbol Gria2
Ensembl Gene ENSMUSG00000033981
Gene Name glutamate receptor, ionotropic, AMPA2 (alpha 2)
Synonyms Glur-2, GluA2, GluR2, GluR-B, Glur2
MMRRC Submission 040460-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R2872 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 80588757-80710142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80609799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 670 (T670I)
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: T670I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: T670I

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: T670I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: T670I

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: T670I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: T670I

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
Meta Mutation Damage Score 0.5743 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (72/73)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,201,530 (GRCm39) probably benign Het
Abca8b A G 11: 109,846,002 (GRCm39) C811R possibly damaging Het
Ak8 T C 2: 28,632,732 (GRCm39) I317T possibly damaging Het
Akr1e1 G A 13: 4,652,683 (GRCm39) silent Het
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Arhgef10 T C 8: 15,025,093 (GRCm39) probably null Het
Arhgef10 A G 8: 15,025,666 (GRCm39) I459V probably benign Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp12a A G 14: 56,624,407 (GRCm39) R952G possibly damaging Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
Carmil1 G A 13: 24,229,051 (GRCm39) silent Het
Cilk1 A T 9: 78,047,382 (GRCm39) probably null Het
Col12a1 A T 9: 79,606,831 (GRCm39) F531I probably damaging Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Ctnnd1 C T 2: 84,451,232 (GRCm39) V123I possibly damaging Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Homo
Gm21759 T A 5: 8,230,863 (GRCm39) probably benign Het
Gm37340 G A 2: 6,955,739 (GRCm39) probably benign Het
Gpr156 T A 16: 37,812,585 (GRCm39) V307D probably damaging Het
Gpr35 G A 1: 92,910,848 (GRCm39) V187I probably benign Het
Hdac10 G T 15: 89,010,059 (GRCm39) Q300K possibly damaging Het
Hdhd2 T C 18: 77,042,702 (GRCm39) F44L probably damaging Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Ift172 C T 5: 31,415,205 (GRCm39) V1335I probably benign Het
Igsf9b A G 9: 27,233,519 (GRCm39) I340V probably benign Het
Kif1c A G 11: 70,614,907 (GRCm39) E567G probably damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Homo
Knop1 T C 7: 118,455,186 (GRCm39) probably null Het
Mapk7 C A 11: 61,381,038 (GRCm39) probably benign Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Myo9b T C 8: 71,743,610 (GRCm39) Y224H probably benign Het
Nav1 A G 1: 135,388,495 (GRCm39) silent Het
Ndufs1 A G 1: 63,203,882 (GRCm39) probably benign Het
Nlrc3 T C 16: 3,775,190 (GRCm39) D774G possibly damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Nox3 T C 17: 3,733,191 (GRCm39) H240R probably damaging Het
Nsun2 A G 13: 69,777,801 (GRCm39) T425A probably damaging Het
Or10g1 T G 14: 52,648,318 (GRCm39) T4P probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or1o4 A G 17: 37,590,867 (GRCm39) V148A possibly damaging Het
Or52u1 T C 7: 104,237,700 (GRCm39) S230P possibly damaging Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Otud4 T A 8: 80,387,702 (GRCm39) N300K possibly damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Paqr5 A T 9: 61,876,061 (GRCm39) probably null Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pkd1l2 C T 8: 117,764,903 (GRCm39) V1332I probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Plekhg1 T G 10: 3,913,982 (GRCm39) S1235A probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Plxna3 T A X: 73,383,002 (GRCm39) probably benign Homo
Polg2 A G 11: 106,666,251 (GRCm39) probably null Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Homo
Prps1 C T X: 139,372,743 (GRCm39) probably benign Homo
Rapgef6 T A 11: 54,552,001 (GRCm39) F956L probably damaging Het
Rasl12 A G 9: 65,315,605 (GRCm39) N83S probably benign Het
Rel T C 11: 23,711,129 (GRCm39) I13V probably benign Het
Reln C T 5: 22,254,789 (GRCm39) V527I possibly damaging Het
Sel1l3 C T 5: 53,295,225 (GRCm39) W792* probably null Het
Shoc1 A C 4: 59,093,850 (GRCm39) L226R probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Slc6a9 T A 4: 117,706,578 (GRCm39) M1K probably null Het
Smpdl3a T A 10: 57,678,626 (GRCm39) F143Y possibly damaging Het
Son A G 16: 91,461,205 (GRCm39) probably null Het
Spsb4 G T 9: 96,878,071 (GRCm39) T84K probably damaging Het
Tbc1d8 A G 1: 39,444,398 (GRCm39) F187S probably damaging Het
Tdpoz3 T A 3: 93,733,735 (GRCm39) F137I probably benign Het
Tgm7 G A 2: 120,940,174 (GRCm39) probably benign Het
Tmem161a C T 8: 70,631,565 (GRCm39) probably benign Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Tpd52 A T 3: 9,068,466 (GRCm39) Y16* probably null Het
Trpa1 A G 1: 14,957,844 (GRCm39) C705R probably damaging Het
Ttn A G 2: 76,581,195 (GRCm39) S23233P probably damaging Het
Uevld T C 7: 46,597,693 (GRCm39) D154G probably null Het
Zfp292 G A 4: 34,808,595 (GRCm39) T1483M probably damaging Het
Zzz3 T A 3: 152,152,481 (GRCm39) silent 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
IGL02532:Gria2 APN 3 80,614,306 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCACGGTTATAGTTGGAGATCAG -3'
(R):5'- AGAGCATTCATTTCGCTTTACG -3'

Sequencing Primer
(F):5'- CGGTTATAGTTGGAGATCAGAAGGC -3'
(R):5'- ATCCATTTCGTACTTGTTATCAGATC -3'
Posted On 2015-02-18