Incidental Mutation 'R2001:Gria2'
ID 225906
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 040011-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R2001 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 80588757-80710142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80618112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 308 (T308A)
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: T308A

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: T308A

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: T308A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: T308A

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: T308A

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: T308A

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,571,800 (GRCm39) S559P probably benign Het
A430005L14Rik T A 4: 154,044,314 (GRCm39) C42S probably damaging Het
Abca13 A T 11: 9,223,967 (GRCm39) T449S probably benign Het
Acvr1c T A 2: 58,205,987 (GRCm39) Q41L probably benign Het
Adamts13 C T 2: 26,864,002 (GRCm39) P60L probably benign Het
Adamts20 T C 15: 94,245,599 (GRCm39) T568A possibly damaging Het
Ago1 T C 4: 126,348,187 (GRCm39) I44V probably null Het
Agtpbp1 TGAAGATGCATCTTGAGAAGA TGAAGA 13: 59,623,617 (GRCm39) probably null Het
Ankrd28 A T 14: 31,467,293 (GRCm39) V39E possibly damaging Het
Apaf1 A G 10: 90,897,676 (GRCm39) V269A possibly damaging Het
Astn1 A G 1: 158,348,091 (GRCm39) N506D probably damaging Het
BC051019 G A 7: 109,319,758 (GRCm39) Q102* probably null Het
Bpifb5 A G 2: 154,075,199 (GRCm39) T376A possibly damaging Het
Ccdc121rt1 G T 1: 181,338,551 (GRCm39) Q134K probably benign Het
Ccl20 ATT ATTT 1: 83,095,576 (GRCm39) probably null Het
Ccl6 G T 11: 83,480,163 (GRCm39) P68T possibly damaging Het
Cd300ld A T 11: 114,878,156 (GRCm39) F119I probably benign Het
Cdk2ap2 A G 19: 4,147,903 (GRCm39) M57V possibly damaging Het
Cemip2 A G 19: 21,779,351 (GRCm39) D387G probably benign Het
Chkb C T 15: 89,312,969 (GRCm39) G36E probably damaging Het
Col11a1 A G 3: 113,958,942 (GRCm39) probably null Het
Ctla2b T C 13: 61,043,881 (GRCm39) Y120C probably damaging Het
Ctnnd1 T C 2: 84,450,704 (GRCm39) N172S probably benign Het
Cyp2a22 G A 7: 26,634,197 (GRCm39) P319L probably damaging Het
Dcaf12 A C 4: 41,302,804 (GRCm39) V117G probably damaging Het
Ddx6 A G 9: 44,518,831 (GRCm39) T48A probably benign Het
Dgki T C 6: 36,842,736 (GRCm39) D923G possibly damaging Het
Dhx37 G T 5: 125,504,528 (GRCm39) T345K probably damaging Het
Dhx9 A T 1: 153,331,857 (GRCm39) Y1370* probably null Het
Dnah7b T C 1: 46,181,247 (GRCm39) S1045P possibly damaging Het
Dnmbp G C 19: 43,838,612 (GRCm39) T1071S possibly damaging Het
Dspp T A 5: 104,326,425 (GRCm39) S929R unknown Het
Dst A T 1: 34,223,144 (GRCm39) E1625D probably damaging Het
Egflam T A 15: 7,272,048 (GRCm39) H630L probably benign Het
Elane T C 10: 79,723,593 (GRCm39) V186A possibly damaging Het
Fam209 C A 2: 172,314,689 (GRCm39) N59K probably benign Het
Gbe1 A G 16: 70,325,814 (GRCm39) E617G probably damaging Het
Get3 T C 8: 85,751,789 (GRCm39) S36G probably damaging Het
Gfra1 A G 19: 58,288,707 (GRCm39) L246P probably damaging Het
Grip2 A T 6: 91,756,831 (GRCm39) V540D probably benign Het
Hhipl1 A T 12: 108,288,118 (GRCm39) I575F possibly damaging Het
Hmcn1 T A 1: 150,614,364 (GRCm39) E1347D possibly damaging Het
Itga2b C A 11: 102,358,165 (GRCm39) A187S probably benign Het
Kalrn C A 16: 33,848,415 (GRCm39) R469M probably damaging Het
Kif23 A T 9: 61,834,666 (GRCm39) C426* probably null Het
Lck T C 4: 129,442,730 (GRCm39) N475S probably benign Het
Leng8 A G 7: 4,148,073 (GRCm39) N642S probably damaging Het
Lingo4 T A 3: 94,310,382 (GRCm39) I440N probably damaging Het
Lrrc4 A G 6: 28,830,904 (GRCm39) F237S probably damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Naip2 A T 13: 100,281,096 (GRCm39) I1316N probably damaging Het
Naip6 C T 13: 100,437,237 (GRCm39) G429S probably benign Het
Noct C T 3: 51,155,465 (GRCm39) R78C probably damaging Het
Npbwr1 A G 1: 5,987,394 (GRCm39) V40A possibly damaging Het
Nsd2 A G 5: 34,000,746 (GRCm39) N88D probably damaging Het
Or1e29 T A 11: 73,667,539 (GRCm39) I205F probably benign Het
Or5ap2 T A 2: 85,680,744 (GRCm39) V316E probably benign Het
Or6c210 T A 10: 129,496,290 (GRCm39) I205N probably benign Het
Or8k28 T C 2: 86,285,817 (GRCm39) H266R probably benign Het
Pak5 T A 2: 135,958,557 (GRCm39) H177L probably benign Het
Pard3 C T 8: 127,791,097 (GRCm39) probably null Het
Pde4c A G 8: 71,200,007 (GRCm39) probably null Het
Pde6h T A 6: 136,940,203 (GRCm39) I63N probably damaging Het
Phldb2 T C 16: 45,594,558 (GRCm39) K916E possibly damaging Het
Ppig T C 2: 69,571,988 (GRCm39) S236P unknown Het
Ptprd T C 4: 75,872,359 (GRCm39) Y1370C probably damaging Het
Pzp T C 6: 128,493,083 (GRCm39) T352A probably benign Het
Rab3gap1 A G 1: 127,831,456 (GRCm39) Y177C possibly damaging Het
Rasgef1a G A 6: 118,066,157 (GRCm39) V457M probably benign Het
Scel A T 14: 103,848,226 (GRCm39) T616S possibly damaging Het
Sel1l A T 12: 91,793,324 (GRCm39) Y228* probably null Het
Sgms1 A G 19: 32,137,083 (GRCm39) V161A possibly damaging Het
Slfnl1 T C 4: 120,390,424 (GRCm39) L25P probably benign Het
Smad5 A G 13: 56,885,187 (GRCm39) T432A probably damaging Het
Sohlh2 T C 3: 55,099,762 (GRCm39) probably null Het
Sphkap A T 1: 83,254,383 (GRCm39) M835K probably damaging Het
Sqor A C 2: 122,640,018 (GRCm39) T174P probably damaging Het
Stkld1 T C 2: 26,842,759 (GRCm39) V577A probably damaging Het
Sulf2 T A 2: 165,922,773 (GRCm39) E652D probably benign Het
Sycp2 T A 2: 178,019,848 (GRCm39) Q556L probably benign Het
Syk A G 13: 52,765,274 (GRCm39) T134A probably benign Het
Tas2r122 T A 6: 132,688,585 (GRCm39) I103F possibly damaging Het
Tex10 A G 4: 48,451,940 (GRCm39) W729R probably damaging Het
Tex261 G T 6: 83,750,713 (GRCm39) P95T probably damaging Het
Tm2d2 T C 8: 25,507,523 (GRCm39) S47P probably benign Het
Tmem95 A G 11: 69,767,817 (GRCm39) S128P probably damaging Het
Tnxb G A 17: 34,911,553 (GRCm39) A1619T possibly damaging Het
Trappc9 A G 15: 72,929,885 (GRCm39) I157T probably damaging Het
Unc13c T A 9: 73,390,897 (GRCm39) probably null Het
Upb1 A T 10: 75,265,803 (GRCm39) Y210F probably damaging Het
Urb1 T C 16: 90,559,232 (GRCm39) M1684V probably benign Het
Wnk2 G A 13: 49,232,158 (GRCm39) P727S possibly damaging Het
Zfp1004 T A 2: 150,034,867 (GRCm39) M396K probably benign Het
Zfp551 A T 7: 12,150,276 (GRCm39) S378T probably damaging Het
Zfp598 T C 17: 24,888,898 (GRCm39) V56A possibly damaging Het
Zfp945 C T 17: 23,076,223 (GRCm39) probably null 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
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'- CTGTGTGAAGTCGCATCAGC -3'
(R):5'- GCATAGTCTCATTGTCCACATAC -3'

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