Incidental Mutation 'IGL01120:Gria1'
ID 52331
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 # IGL01120
Quality Score
Status
Chromosome 11
Chromosomal Location 56902342-57221070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57208495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 797 (K797E)
Ref Sequence ENSEMBL: ENSMUSP00000091731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036315] [ENSMUST00000094179] [ENSMUST00000151045]
AlphaFold P23818
Predicted Effect probably damaging
Transcript: ENSMUST00000036315
AA Change: K797E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: K797E

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 damaging
Transcript: ENSMUST00000094179
AA Change: K797E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: K797E

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 possibly damaging
Transcript: ENSMUST00000151045
AA Change: K728E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: K728E

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 T A 5: 135,040,329 (GRCm39) probably null Het
Armcx5 T C X: 134,647,112 (GRCm39) I396T probably damaging Het
Atm T C 9: 53,372,422 (GRCm39) probably null Het
Atp6v1c2 C T 12: 17,358,294 (GRCm39) E88K probably damaging Het
Caskin1 A G 17: 24,724,343 (GRCm39) T1044A possibly damaging Het
Cyp3a59 T A 5: 146,039,671 (GRCm39) S315T probably damaging Het
Dnaja1 T A 4: 40,730,248 (GRCm39) I240N probably damaging Het
Dnttip2 C T 3: 122,072,386 (GRCm39) probably benign Het
Elavl2 A T 4: 91,152,309 (GRCm39) M136K probably damaging Het
Eml5 C T 12: 98,810,278 (GRCm39) V893I probably benign Het
Fbxw4 G T 19: 45,628,955 (GRCm39) A2E probably benign Het
Flg2 T G 3: 93,108,475 (GRCm39) S168A probably damaging Het
Fndc3a G A 14: 72,794,102 (GRCm39) T857I probably benign Het
Herc1 T C 9: 66,336,162 (GRCm39) F1569S probably benign Het
Kash5 G T 7: 44,833,622 (GRCm39) S560Y probably damaging Het
Lrrc45 T C 11: 120,610,836 (GRCm39) V524A probably benign Het
Myo19 T C 11: 84,798,104 (GRCm39) L708P probably damaging Het
Nup107 A G 10: 117,606,146 (GRCm39) probably benign Het
Or10ab4 T G 7: 107,654,774 (GRCm39) M195R probably damaging Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Palm A G 10: 79,652,621 (GRCm39) probably benign Het
Phf14 T C 6: 11,962,739 (GRCm39) V462A probably damaging Het
Pkhd1l1 G A 15: 44,368,708 (GRCm39) probably null Het
Pkp3 T A 7: 140,664,095 (GRCm39) L424* probably null Het
Prss29 A G 17: 25,541,107 (GRCm39) K184E probably benign Het
Prss3b A T 6: 41,008,607 (GRCm39) Y236N probably damaging Het
Ptcd1 C T 5: 145,089,053 (GRCm39) probably benign Het
Pth1r T C 9: 110,556,198 (GRCm39) H225R probably damaging Het
Rffl C T 11: 82,696,848 (GRCm39) V332I probably damaging Het
Rsl1 T C 13: 67,325,230 (GRCm39) probably benign Het
Scart2 T C 7: 139,876,472 (GRCm39) L648P probably benign Het
Scn9a T C 2: 66,357,316 (GRCm39) K986R probably benign Het
Slc22a15 A G 3: 101,804,482 (GRCm39) L181P probably damaging Het
Slc34a1 T A 13: 55,556,884 (GRCm39) L241H probably damaging Het
Slc4a4 C A 5: 89,280,238 (GRCm39) H354Q probably damaging Het
Sorcs2 T C 5: 36,178,596 (GRCm39) E1131G probably damaging Het
Ssc4d C A 5: 135,996,817 (GRCm39) D95Y probably damaging Het
Tcte1 A T 17: 45,850,594 (GRCm39) D290V probably damaging Het
Thyn1 T A 9: 26,915,070 (GRCm39) M74K probably benign Het
Tlr4 C T 4: 66,758,662 (GRCm39) T485I probably benign Het
Trem1 A G 17: 48,544,277 (GRCm39) T101A probably benign Het
Ttc17 T C 2: 94,202,141 (GRCm39) E387G probably damaging Het
Vmn2r103 A T 17: 20,013,259 (GRCm39) T127S probably benign Het
Other mutations in Gria1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Gria1 APN 11 57,133,767 (GRCm39) nonsense probably null
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
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 2013-06-21