Incidental Mutation 'IGL00475:Gria1'
ID 4595
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 # IGL00475
Quality Score
Status
Chromosome 11
Chromosomal Location 56902342-57221070 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 57133767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 480 (G480*)
Ref Sequence ENSEMBL: ENSMUSP00000117746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036315] [ENSMUST00000094179] [ENSMUST00000151045]
AlphaFold P23818
Predicted Effect probably null
Transcript: ENSMUST00000036315
AA Change: G549*
SMART Domains Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: G549*

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 null
Transcript: ENSMUST00000094179
AA Change: G549*
SMART Domains Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: G549*

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 null
Transcript: ENSMUST00000151045
AA Change: G480*
SMART Domains Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: G480*

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G A 16: 14,254,437 (GRCm39) A583T probably damaging Het
Cdh10 A T 15: 19,013,349 (GRCm39) I650F probably damaging Het
Ces1a A G 8: 93,747,095 (GRCm39) L548P probably damaging Het
Commd9 C T 2: 101,725,501 (GRCm39) R25* probably null Het
Depdc1b T A 13: 108,493,974 (GRCm39) Y121N probably benign Het
Epha6 A T 16: 59,736,325 (GRCm39) F736L probably damaging Het
Fancd2 A G 6: 113,545,571 (GRCm39) K868R probably benign Het
Fgd1 C T X: 149,855,440 (GRCm39) A502V probably benign Het
Gm5111 A T 6: 48,566,620 (GRCm39) probably benign Het
Krt5 T C 15: 101,621,076 (GRCm39) Y57C unknown Het
Metap1d C T 2: 71,346,090 (GRCm39) A217V probably damaging Het
Mrpl1 A G 5: 96,374,144 (GRCm39) K140E probably damaging Het
Mta3 C T 17: 84,015,861 (GRCm39) P21L probably damaging Het
Nanog A T 6: 122,688,495 (GRCm39) probably null Het
Ogn A G 13: 49,776,391 (GRCm39) I277V probably benign Het
Pole T A 5: 110,438,962 (GRCm39) Y187* probably null Het
Psme4 A T 11: 30,795,252 (GRCm39) K1254I probably benign Het
Rac1 G A 5: 143,493,093 (GRCm39) A165V possibly damaging Het
Srcap T A 7: 127,152,093 (GRCm39) M2185K possibly damaging Het
Svep1 T A 4: 58,176,077 (GRCm39) D274V probably damaging Het
Taf2 A T 15: 54,919,246 (GRCm39) Y376* probably null Het
Tead1 C A 7: 112,438,662 (GRCm39) T66K probably damaging Het
Vps53 C T 11: 75,967,861 (GRCm39) probably null Het
Zfp658 A G 7: 43,223,500 (GRCm39) R592G possibly damaging Het
Zfyve1 T A 12: 83,602,485 (GRCm39) probably null Het
Other mutations in Gria1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Gria1 APN 11 56,902,866 (GRCm39) missense probably benign
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 2012-04-20