Incidental Mutation 'R0148:Gria2'
ID 22648
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 038432-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.259) question?
Stock # R0148 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 3
Chromosomal Location 80588757-80710142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 80615038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 481 (W481G)
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: W481G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: W481G

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: W481G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: W481G

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: W481G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: W481G

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
Meta Mutation Damage Score 0.9655 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 86% (30/35)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Agtr1a T C 13: 30,565,927 (GRCm39) S331P probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Bahcc1 A T 11: 120,159,230 (GRCm39) Q152H probably damaging Het
Bend3 T A 10: 43,387,946 (GRCm39) Y780N probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Efl1 T C 7: 82,320,878 (GRCm39) S104P probably damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fbln1 G A 15: 85,115,027 (GRCm39) R193H probably damaging Het
Fbxw21 A G 9: 108,977,085 (GRCm39) probably null Het
Fgf17 C T 14: 70,876,313 (GRCm39) R49Q probably damaging Het
Flnb T C 14: 7,939,077 (GRCm38) S2307P probably benign Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Git1 A G 11: 77,396,554 (GRCm39) T601A probably benign Het
Gm10722 T "C,A" 9: 3,001,405 (GRCm39) probably null Het
Gm5142 C T 14: 59,416,119 (GRCm39) R13H possibly damaging Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Il4ra T A 7: 125,174,709 (GRCm39) C306S probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Lama3 G A 18: 12,581,329 (GRCm39) C596Y probably damaging Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Marchf6 C T 15: 31,490,758 (GRCm39) V293M probably damaging Het
Med12l A G 3: 58,945,075 (GRCm39) D100G probably damaging Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mrpl53 T C 6: 83,086,518 (GRCm39) L74P probably damaging Het
Mvp C T 7: 126,589,037 (GRCm39) V577M probably damaging Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nipsnap3b C T 4: 53,017,088 (GRCm39) A104V possibly damaging Het
Nlrp14 A G 7: 106,781,928 (GRCm39) Y375C probably benign Het
Nod1 A G 6: 54,915,202 (GRCm39) Y764H probably damaging Het
Or13d1 A T 4: 52,971,232 (GRCm39) I204F probably benign Het
Or2w25 G A 11: 59,504,320 (GRCm39) V177M probably damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Peg10 C A 6: 4,755,711 (GRCm39) R96S possibly damaging Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rilp A T 11: 75,401,059 (GRCm39) H29L probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Ryr1 C A 7: 28,751,460 (GRCm39) R3706L probably damaging Het
Ryr2 T C 13: 11,729,434 (GRCm39) D2396G probably damaging Het
Slc45a2 T C 15: 11,025,954 (GRCm39) S435P probably damaging Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tep1 A T 14: 51,062,246 (GRCm39) D2535E possibly damaging Het
Tkt T A 14: 30,294,177 (GRCm39) I529N probably damaging Het
Trp53i11 T G 2: 93,028,080 (GRCm39) V39G probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Usp3 A G 9: 66,447,449 (GRCm39) V219A possibly damaging Het
Usp4 T A 9: 108,268,870 (GRCm39) probably null Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Xkr6 T C 14: 64,056,998 (GRCm39) V303A unknown Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfhx2 A G 14: 55,310,354 (GRCm39) Y731H possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCCCTTGAAGTCTGGGGATACTGTG -3'
(R):5'- TGAGGAGTCATGCTAACAGCTTTTGG -3'

Sequencing Primer
(F):5'- GACAAGTGAAATGCATGTTTCTG -3'
(R):5'- GCTAACAGCTTTTGGGTATCTTAC -3'
Posted On 2013-04-16