Incidental Mutation 'R1993:Gria2'
ID 223831
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 040004-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R1993 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 80588757-80710142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80709664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 10 (L10F)
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 benign
Transcript: ENSMUST00000075316
AA Change: L10F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: L10F

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 benign
Transcript: ENSMUST00000107745
AA Change: L10F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: L10F

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 benign
Transcript: ENSMUST00000192463
AA Change: L10F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: L10F

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: ENSMUST00000194164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195062
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T G 5: 8,871,322 (GRCm39) I292S possibly damaging Het
Abcc4 T C 14: 118,763,694 (GRCm39) N1047S probably benign Het
Abcc8 G T 7: 45,766,847 (GRCm39) probably null Het
Akap9 T A 5: 4,088,520 (GRCm39) probably null Het
Alox5 T A 6: 116,392,424 (GRCm39) I366F probably damaging Het
Amn A G 12: 111,242,526 (GRCm39) N447S probably damaging Het
Ankrd22 A T 19: 34,143,174 (GRCm39) M1K probably null Het
Asic1 G T 15: 99,569,765 (GRCm39) G29C probably damaging Het
Atxn7l1 A G 12: 33,395,976 (GRCm39) N235S probably benign Het
AY358078 T A 14: 52,063,519 (GRCm39) D388E probably damaging Het
Bod1l A G 5: 41,974,679 (GRCm39) S2212P probably damaging Het
Cacna1e T A 1: 154,353,563 (GRCm39) Q423L probably damaging Het
Calu T C 6: 29,366,974 (GRCm39) I62T possibly damaging Het
Cars2 A G 8: 11,564,515 (GRCm39) V75A probably benign Het
Catsperb T A 12: 101,569,026 (GRCm39) N899K possibly damaging Het
Ccdc50 T A 16: 27,228,089 (GRCm39) C86* probably null Het
Cdh5 G T 8: 104,864,447 (GRCm39) L469F probably damaging Het
Clrn3 A T 7: 135,115,848 (GRCm39) D167E probably benign Het
Csmd1 A T 8: 16,396,698 (GRCm39) C411S probably damaging Het
Dchs1 A T 7: 105,411,755 (GRCm39) S1454T probably benign Het
Ddx20 G A 3: 105,586,660 (GRCm39) Q562* probably null Het
Dgkg T G 16: 22,419,344 (GRCm39) Y52S probably damaging Het
Dhx58 T C 11: 100,594,316 (GRCm39) probably null Het
Dpp6 A T 5: 27,604,004 (GRCm39) I145L probably benign Het
Efna2 A T 10: 80,022,711 (GRCm39) Y85F possibly damaging Het
Eif3a C T 19: 60,769,954 (GRCm39) V127I probably benign Het
Exph5 A T 9: 53,284,935 (GRCm39) H672L possibly damaging Het
Fam131b T C 6: 42,297,818 (GRCm39) T112A possibly damaging Het
Fcgr1 A T 3: 96,193,184 (GRCm39) V271E probably damaging Het
Fgfr4 A G 13: 55,313,715 (GRCm39) D508G probably damaging Het
Fndc3b A G 3: 27,473,549 (GRCm39) M1172T probably benign Het
Fryl G T 5: 73,265,836 (GRCm39) T495K probably damaging Het
Garin5b A T 7: 4,761,017 (GRCm39) V565E probably damaging Het
Gm5134 A T 10: 75,802,227 (GRCm39) I93F probably damaging Het
Gpbar1 G A 1: 74,318,603 (GRCm39) G282D possibly damaging Het
Grm7 T C 6: 111,184,769 (GRCm39) Y367H probably benign Het
H1f9 T A 11: 94,858,858 (GRCm39) V51E probably damaging Het
Hivep1 G A 13: 42,310,969 (GRCm39) A1070T probably benign Het
Il33 A G 19: 29,934,304 (GRCm39) D155G possibly damaging Het
Kdm6b T C 11: 69,297,129 (GRCm39) S408G probably null Het
Kntc1 A G 5: 123,948,874 (GRCm39) probably null Het
Kntc1 G A 5: 123,897,162 (GRCm39) probably null Het
Ltbp2 T G 12: 84,855,220 (GRCm39) probably null Het
Mapk8ip3 G T 17: 25,133,562 (GRCm39) L83I probably damaging Het
Meltf C A 16: 31,711,440 (GRCm39) Y554* probably null Het
Mov10 A C 3: 104,706,735 (GRCm39) F725C probably damaging Het
Ms4a6d A C 19: 11,567,523 (GRCm39) L18R probably damaging Het
Naip2 T C 13: 100,298,515 (GRCm39) N507S probably benign Het
Nodal A G 10: 61,254,113 (GRCm39) Q12R probably benign Het
Npy6r T C 18: 44,409,575 (GRCm39) L332P probably damaging Het
Nrxn3 A G 12: 89,227,181 (GRCm39) K272R possibly damaging Het
Obox2 G T 7: 15,131,174 (GRCm39) K93N probably benign Het
Or10j27 C T 1: 172,958,418 (GRCm39) R122H possibly damaging Het
Or51a6 G T 7: 102,603,953 (GRCm39) P285Q probably damaging Het
Or5b112 A G 19: 13,319,178 (GRCm39) T19A possibly damaging Het
Or5w13 C T 2: 87,523,777 (GRCm39) V150M probably benign Het
Pcdh12 T A 18: 38,415,196 (GRCm39) D643V possibly damaging Het
Pcsk2 A G 2: 143,529,539 (GRCm39) D112G probably benign Het
Pms1 A G 1: 53,234,174 (GRCm39) S781P probably benign Het
Prtg A G 9: 72,752,178 (GRCm39) D188G probably benign Het
Psg21 A T 7: 18,388,695 (GRCm39) N132K probably benign Het
Psip1 A G 4: 83,400,769 (GRCm39) V25A probably damaging Het
Psmd13 T A 7: 140,478,107 (GRCm39) I319N probably damaging Het
Ptges2 A G 2: 32,290,104 (GRCm39) T173A probably benign Het
Ptprm G A 17: 67,054,155 (GRCm39) R975W probably damaging Het
Rdh1 A G 10: 127,601,214 (GRCm39) D254G probably benign Het
Rnf138 T G 18: 21,157,540 (GRCm39) N212K probably damaging Het
Serpine2 A G 1: 79,799,159 (GRCm39) S32P probably damaging Het
Serpini1 G T 3: 75,521,971 (GRCm39) W154L probably damaging Het
Sf3a1 C A 11: 4,129,177 (GRCm39) Q713K possibly damaging Het
Sgo2b A T 8: 64,379,867 (GRCm39) H988Q probably benign Het
Sin3a T C 9: 57,008,483 (GRCm39) F468L probably damaging Het
Slamf6 A T 1: 171,761,776 (GRCm39) I66F possibly damaging Het
Slc22a28 A T 19: 8,094,488 (GRCm39) C178S possibly damaging Het
Slc35a1 A C 4: 34,675,181 (GRCm39) V119G probably damaging Het
Slc39a12 A T 2: 14,439,030 (GRCm39) H428L probably damaging Het
Speer2 A G 16: 69,654,965 (GRCm39) S167P probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Spsb2 T C 6: 124,786,329 (GRCm39) probably null Het
Stam2 A T 2: 52,593,168 (GRCm39) Y341* probably null Het
Sv2b G A 7: 74,856,089 (GRCm39) A67V probably benign Het
Svep1 A G 4: 58,064,170 (GRCm39) probably null Het
Syt15 A T 14: 33,944,969 (GRCm39) Q172L probably benign Het
T G A 17: 8,660,634 (GRCm39) S415N probably benign Het
Tep1 A G 14: 51,061,641 (GRCm39) F2625S possibly damaging Het
Tex14 T C 11: 87,427,581 (GRCm39) V11A possibly damaging Het
Tiam2 A T 17: 3,465,401 (GRCm39) R377* probably null Het
Tirap A G 9: 35,102,312 (GRCm39) probably null Het
Tm4sf20 T C 1: 82,737,938 (GRCm39) T118A probably benign Het
Trank1 A T 9: 111,207,900 (GRCm39) Q1715L probably benign Het
Trpm2 C T 10: 77,783,823 (GRCm39) V217M probably damaging Het
Ubap1l G A 9: 65,279,078 (GRCm39) E126K possibly damaging Het
Urgcp G T 11: 5,666,526 (GRCm39) P604Q probably damaging Het
Vmn1r63 A G 7: 5,806,254 (GRCm39) V126A probably benign Het
Vmn2r90 T C 17: 17,933,525 (GRCm39) C362R probably damaging Het
Vmn2r96 A G 17: 18,804,138 (GRCm39) I271V probably damaging Het
Vps13a A T 19: 16,699,822 (GRCm39) I740K probably benign Het
Vps13c A G 9: 67,883,138 (GRCm39) T3562A probably damaging Het
Wdr91 T A 6: 34,869,297 (GRCm39) H409L probably damaging Het
Wnt7a T A 6: 91,342,938 (GRCm39) T315S possibly damaging Het
Zfp616 A G 11: 73,975,795 (GRCm39) H688R probably benign Het
Zfp763 A T 17: 33,237,413 (GRCm39) H577Q probably damaging Het
Zfp808 G A 13: 62,320,721 (GRCm39) S650N probably benign Het
Zfp977 A T 7: 42,229,409 (GRCm39) M372K 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
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
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
Predicted Primers PCR Primer
(F):5'- CCCCTCTATTGTGTCAAAAGGC -3'
(R):5'- CACTTCGTGGTTTTAGCAGCTC -3'

Sequencing Primer
(F):5'- GTTTCAATCTGGAATGCAGTCAAGG -3'
(R):5'- CCTTGCTAAATTTCGACCTCAAAATG -3'
Posted On 2014-08-25