Incidental Mutation 'PIT4445001:Gria1'
ID 555420
Institutional Source Beutler Lab
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 # PIT4445001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 56902342-57221070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57076664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 89 (Y89F)
Ref Sequence ENSEMBL: ENSMUSP00000044494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036315] [ENSMUST00000094179] [ENSMUST00000151045]
AlphaFold P23818
Predicted Effect probably damaging
Transcript: ENSMUST00000036315
AA Change: Y89F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: Y89F

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: Y89F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: Y89F

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 damaging
Transcript: ENSMUST00000151045
AA Change: Y20F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: Y20F

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
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 70.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,966,377 (GRCm39) K419E probably damaging Het
Adam7 T A 14: 68,747,197 (GRCm39) K587N possibly damaging Het
Agl T C 3: 116,565,109 (GRCm39) M382V Het
Agpat3 A T 10: 78,109,927 (GRCm39) F341I possibly damaging Het
Ampd2 A T 3: 107,982,328 (GRCm39) L767Q probably damaging Het
Arhgap28 A T 17: 68,203,230 (GRCm39) D124E possibly damaging Het
Arhgap32 T C 9: 32,172,152 (GRCm39) L1644P probably damaging Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Asns T A 6: 7,689,277 (GRCm39) N75I probably damaging Het
Atp10a A G 7: 58,453,215 (GRCm39) D798G probably damaging Het
Atp8a1 A G 5: 67,780,003 (GRCm39) V1145A Het
Ccdc171 A G 4: 83,579,984 (GRCm39) Q577R probably damaging Het
Cd247 T A 1: 165,688,605 (GRCm39) D154E probably damaging Het
Ceacam1 A T 7: 25,175,881 (GRCm39) N104K probably damaging Het
Chfr A G 5: 110,299,543 (GRCm39) D312G possibly damaging Het
Ddb1 C A 19: 10,603,334 (GRCm39) L881I probably damaging Het
Dgkh A T 14: 78,813,382 (GRCm39) I1032N possibly damaging Het
Efcab6 A T 15: 83,788,468 (GRCm39) V942D probably benign Het
Fmo5 A G 3: 97,558,844 (GRCm39) T435A probably benign Het
Fpr1 T C 17: 18,097,155 (GRCm39) Q278R probably benign Het
Fzr1 C T 10: 81,205,228 (GRCm39) W256* probably null Het
Gabrb1 T C 5: 72,266,125 (GRCm39) S261P probably damaging Het
Galr2 G T 11: 116,172,474 (GRCm39) A55S probably benign Het
Gbp2 A T 3: 142,343,227 (GRCm39) K581N probably benign Het
Ibsp T A 5: 104,450,170 (GRCm39) I26N possibly damaging Het
Igf1r T C 7: 67,857,211 (GRCm39) F1058L probably damaging Het
Ighv1-16 A C 12: 114,629,680 (GRCm39) C36G probably benign Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Ilkap T C 1: 91,313,067 (GRCm39) T143A probably benign Het
Kdm3b A T 18: 34,926,168 (GRCm39) K103* probably null Het
Mphosph9 A G 5: 124,436,853 (GRCm39) I497T possibly damaging Het
Mrgpra3 G A 7: 47,239,908 (GRCm39) T6I possibly damaging Het
Mrpl38 T C 11: 116,023,384 (GRCm39) probably null Het
Myo3a A T 2: 22,434,457 (GRCm39) E813V possibly damaging Het
Myo7b G T 18: 32,092,519 (GRCm39) Q2093K possibly damaging Het
Myo7b T C 18: 32,095,405 (GRCm39) K1851R probably damaging Het
P3h2 T A 16: 25,803,749 (GRCm39) D339V probably benign Het
Pcdhb6 C A 18: 37,468,300 (GRCm39) P407Q possibly damaging Het
Plch2 C A 4: 155,093,483 (GRCm39) R153L probably damaging Het
Plppr4 G A 3: 117,153,957 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,717,776 (GRCm39) F1046S probably damaging Het
Pramel41 T G 5: 94,596,366 (GRCm39) W468G probably benign Het
Prkacb A T 3: 146,461,446 (GRCm39) L107M probably benign Het
Ranbp17 A G 11: 33,431,020 (GRCm39) probably null Het
Rasl11b C A 5: 74,357,994 (GRCm39) P88Q probably damaging Het
Rcc2 A G 4: 140,448,460 (GRCm39) E503G possibly damaging Het
Rnf216 T A 5: 143,071,758 (GRCm39) K407N probably damaging Het
Rusf1 A G 7: 127,875,706 (GRCm39) V243A probably benign Het
Scrn3 G A 2: 73,148,673 (GRCm39) M81I possibly damaging Het
Scube2 T C 7: 109,408,387 (GRCm39) T687A probably benign Het
Serpinb10 T A 1: 107,463,728 (GRCm39) F3L probably benign Het
Sgcb C T 5: 73,797,155 (GRCm39) V202I probably damaging Het
Sgce A G 6: 4,689,654 (GRCm39) V429A possibly damaging Het
Sh3rf2 T C 18: 42,286,229 (GRCm39) V574A probably benign Het
Sncaip T C 18: 53,002,016 (GRCm39) L179S probably damaging Het
Sntg2 A T 12: 30,362,571 (GRCm39) D58E probably damaging Het
Taar3 T C 10: 23,825,586 (GRCm39) I44T possibly damaging Het
Tmem87b G A 2: 128,673,391 (GRCm39) V227I probably benign Het
Tnfsf9 T C 17: 57,412,517 (GRCm39) L29P possibly damaging Het
Tnip2 T C 5: 34,654,215 (GRCm39) H391R probably benign Het
Traf5 A G 1: 191,729,768 (GRCm39) Y125H Het
Ttc23 T G 7: 67,316,961 (GRCm39) I77M probably damaging Het
Ube2l3 T C 16: 16,978,036 (GRCm39) N43S probably benign Het
Vars2 A T 17: 35,977,103 (GRCm39) C142* probably null Het
Vmn2r15 A C 5: 109,435,008 (GRCm39) D565E probably damaging Het
Vmn2r56 C T 7: 12,449,153 (GRCm39) probably null Het
Vmn2r79 A T 7: 86,651,408 (GRCm39) D269V possibly damaging Het
Vmn2r85 A T 10: 130,261,572 (GRCm39) M255K probably benign Het
Wfdc6a T A 2: 164,421,746 (GRCm39) *137C probably null Het
Wipi2 T C 5: 142,652,639 (GRCm39) V417A probably benign Het
Xirp2 G T 2: 67,340,116 (GRCm39) V786L possibly damaging Het
Zdhhc13 G A 7: 48,445,697 (GRCm39) G26S probably benign Het
Zscan25 T A 5: 145,227,422 (GRCm39) V362D probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGGCCATTTGTTTAGAGCATTTC -3'
(R):5'- AAAAGTCTGCCACTTGTAATGG -3'

Sequencing Primer
(F):5'- TGTGCACATGTTCAGAGACC -3'
(R):5'- GGTCGATAATGCTAATGAGAGCTTCC -3'
Posted On 2019-06-07