Incidental Mutation 'IGL00807:Gria1'
ID 11138
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gria1
Ensembl Gene ENSMUSG00000020524
Gene Name glutamate receptor, ionotropic, AMPA1 (alpha 1)
Synonyms Glur-1, Glr-1, Glur1, GluR1, 2900051M01Rik, Glr1, HIPA1, GluR-A, GluA1, GluRA
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00807
Quality Score
Status
Chromosome 11
Chromosomal Location 56902342-57221070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56902866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 3 (Y3H)
Ref Sequence ENSEMBL: ENSMUSP00000091731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036315] [ENSMUST00000094179] [ENSMUST00000125292] [ENSMUST00000151045]
AlphaFold P23818
Predicted Effect probably benign
Transcript: ENSMUST00000036315
AA Change: Y3H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: Y3H

DomainStartEndE-ValueType
Pfam:ANF_receptor 37 372 9.3e-63 PFAM
PBPe 408 783 3.65e-121 SMART
Lig_chan-Glu_bd 418 483 1.65e-29 SMART
low complexity region 863 874 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094179
AA Change: Y3H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: Y3H

DomainStartEndE-ValueType
Pfam:ANF_receptor 37 372 3.7e-69 PFAM
PBPe 408 783 2.09e-121 SMART
Lig_chan-Glu_bd 418 483 1.65e-29 SMART
low complexity region 863 874 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125292
Predicted Effect probably benign
Transcript: ENSMUST00000151045
SMART Domains Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524

DomainStartEndE-ValueType
Pfam:ANF_receptor 1 303 4.7e-58 PFAM
PBPe 339 714 3.65e-121 SMART
Lig_chan-Glu_bd 349 414 1.65e-29 SMART
transmembrane domain 739 761 N/A INTRINSIC
low complexity region 794 805 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice with mutations in phosphorylation sites have LTD and LTP deficits and spatial learning memory defects. Null homozygotes also show stimulus-reward learning deficits and increases locomotor activity and context-dependent sensitization to amphetamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,328,285 (GRCm39) T3453S probably benign Het
Ahnak T A 19: 8,985,886 (GRCm39) V2390E possibly damaging Het
Aldh8a1 A T 10: 21,271,329 (GRCm39) I352F probably damaging Het
Ccnt2 T C 1: 127,725,628 (GRCm39) probably benign Het
Ccr1l1 A T 9: 123,777,506 (GRCm39) W314R probably benign Het
Cdc42bpa A G 1: 179,969,018 (GRCm39) I1218V possibly damaging Het
Dlc1 G A 8: 37,040,002 (GRCm39) T1386I probably benign Het
Frs2 A C 10: 116,910,791 (GRCm39) probably benign Het
Iigp1c C T 18: 60,378,483 (GRCm39) S6F probably damaging Het
Ints2 T C 11: 86,123,961 (GRCm39) N609S probably damaging Het
Lyst T A 13: 13,825,008 (GRCm39) M1541K possibly damaging Het
Mmachc A T 4: 116,563,118 (GRCm39) V79E probably damaging Het
Nfe2l2 T C 2: 75,509,757 (GRCm39) D21G probably damaging Het
Pde2a G A 7: 101,153,619 (GRCm39) V436M probably damaging Het
Polr1has G T 17: 37,275,813 (GRCm39) A132S probably damaging Het
Rhot1 C T 11: 80,116,928 (GRCm39) H101Y probably benign Het
Sh2d4a T C 8: 68,782,018 (GRCm39) probably null Het
Taar2 A G 10: 23,816,573 (GRCm39) M38V probably benign Het
Tek A T 4: 94,686,956 (GRCm39) N158I probably damaging Het
Other mutations in Gria1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Gria1 APN 11 57,133,767 (GRCm39) nonsense probably null
IGL00816:Gria1 APN 11 57,208,568 (GRCm39) missense possibly damaging 0.93
IGL01110:Gria1 APN 11 57,180,207 (GRCm39) missense probably damaging 1.00
IGL01116:Gria1 APN 11 57,127,801 (GRCm39) missense probably damaging 1.00
IGL01120:Gria1 APN 11 57,208,495 (GRCm39) missense probably damaging 0.99
IGL01843:Gria1 APN 11 57,208,600 (GRCm39) missense probably damaging 1.00
IGL02135:Gria1 APN 11 57,076,679 (GRCm39) missense probably damaging 1.00
IGL02308:Gria1 APN 11 57,127,750 (GRCm39) missense probably benign 0.00
IGL02554:Gria1 APN 11 57,180,314 (GRCm39) missense possibly damaging 0.72
IGL02813:Gria1 APN 11 57,174,410 (GRCm39) missense probably damaging 1.00
IGL03071:Gria1 APN 11 56,902,936 (GRCm39) splice site probably null
IGL03326:Gria1 APN 11 57,208,599 (GRCm39) missense probably damaging 1.00
PIT4445001:Gria1 UTSW 11 57,076,664 (GRCm39) missense probably damaging 1.00
R0087:Gria1 UTSW 11 57,208,538 (GRCm39) missense probably damaging 1.00
R0387:Gria1 UTSW 11 57,200,710 (GRCm39) critical splice donor site probably null
R0399:Gria1 UTSW 11 57,076,853 (GRCm39) missense probably damaging 0.97
R0502:Gria1 UTSW 11 57,080,542 (GRCm39) missense probably damaging 1.00
R0503:Gria1 UTSW 11 57,080,542 (GRCm39) missense probably damaging 1.00
R0549:Gria1 UTSW 11 57,119,799 (GRCm39) missense probably damaging 1.00
R0590:Gria1 UTSW 11 57,180,235 (GRCm39) missense probably damaging 1.00
R1377:Gria1 UTSW 11 57,092,002 (GRCm39) missense probably damaging 1.00
R1395:Gria1 UTSW 11 57,174,392 (GRCm39) missense probably damaging 1.00
R1422:Gria1 UTSW 11 57,080,614 (GRCm39) missense probably benign 0.00
R1581:Gria1 UTSW 11 57,127,836 (GRCm39) splice site probably null
R2002:Gria1 UTSW 11 56,902,930 (GRCm39) missense possibly damaging 0.93
R2064:Gria1 UTSW 11 57,208,534 (GRCm39) missense probably damaging 0.98
R2255:Gria1 UTSW 11 57,076,775 (GRCm39) missense probably damaging 1.00
R2507:Gria1 UTSW 11 57,180,146 (GRCm39) missense probably null 0.30
R2965:Gria1 UTSW 11 57,076,627 (GRCm39) nonsense probably null
R3012:Gria1 UTSW 11 57,180,260 (GRCm39) missense probably damaging 1.00
R3151:Gria1 UTSW 11 57,174,388 (GRCm39) missense probably damaging 1.00
R3807:Gria1 UTSW 11 57,201,504 (GRCm39) missense probably damaging 1.00
R5026:Gria1 UTSW 11 57,201,522 (GRCm39) missense probably damaging 1.00
R5132:Gria1 UTSW 11 57,180,225 (GRCm39) missense probably damaging 1.00
R5222:Gria1 UTSW 11 57,080,623 (GRCm39) missense probably benign 0.22
R5303:Gria1 UTSW 11 57,133,851 (GRCm39) missense probably benign 0.01
R5332:Gria1 UTSW 11 57,218,447 (GRCm39) missense possibly damaging 0.93
R5413:Gria1 UTSW 11 57,108,620 (GRCm39) missense probably benign 0.00
R5748:Gria1 UTSW 11 57,200,702 (GRCm39) missense probably benign 0.00
R5878:Gria1 UTSW 11 57,208,628 (GRCm39) critical splice donor site probably null
R5937:Gria1 UTSW 11 57,080,559 (GRCm39) missense probably benign 0.00
R5995:Gria1 UTSW 11 57,180,111 (GRCm39) missense probably damaging 1.00
R6031:Gria1 UTSW 11 57,108,608 (GRCm39) missense probably damaging 1.00
R6031:Gria1 UTSW 11 57,108,608 (GRCm39) missense probably damaging 1.00
R6180:Gria1 UTSW 11 57,133,618 (GRCm39) missense probably damaging 1.00
R6187:Gria1 UTSW 11 57,128,936 (GRCm39) missense possibly damaging 0.84
R6262:Gria1 UTSW 11 57,133,680 (GRCm39) missense probably damaging 1.00
R6828:Gria1 UTSW 11 57,180,288 (GRCm39) missense probably damaging 1.00
R7374:Gria1 UTSW 11 57,080,634 (GRCm39) missense probably benign
R7507:Gria1 UTSW 11 57,119,765 (GRCm39) missense probably benign 0.14
R7511:Gria1 UTSW 11 57,174,451 (GRCm39) missense probably damaging 1.00
R7691:Gria1 UTSW 11 57,127,813 (GRCm39) missense possibly damaging 0.94
R7898:Gria1 UTSW 11 57,133,591 (GRCm39) missense probably damaging 1.00
R7931:Gria1 UTSW 11 57,201,351 (GRCm39) intron probably benign
R7956:Gria1 UTSW 11 57,080,626 (GRCm39) missense possibly damaging 0.93
R8189:Gria1 UTSW 11 57,108,625 (GRCm39) missense probably benign 0.00
R8353:Gria1 UTSW 11 57,133,877 (GRCm39) missense probably damaging 1.00
R8453:Gria1 UTSW 11 57,133,877 (GRCm39) missense probably damaging 1.00
R8472:Gria1 UTSW 11 57,218,410 (GRCm39) missense probably benign 0.11
R8478:Gria1 UTSW 11 57,200,668 (GRCm39) missense probably damaging 1.00
R9165:Gria1 UTSW 11 57,076,759 (GRCm39) missense possibly damaging 0.96
R9243:Gria1 UTSW 11 57,128,888 (GRCm39) missense probably benign 0.06
R9450:Gria1 UTSW 11 57,200,615 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06