Incidental Mutation 'IGL01077:Gria3'
ID 53323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gria3
Ensembl Gene ENSMUSG00000001986
Gene Name glutamate receptor, ionotropic, AMPA3 (alpha 3)
Synonyms GluR3, 2900064I19Rik, Glur-3, Glur3, Gluralpha3
Accession Numbers
Essential gene? Not available question?
Stock # IGL01077
Quality Score
Status
Chromosome X
Chromosomal Location 40489731-40767478 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40677369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 254 (V254A)
Ref Sequence ENSEMBL: ENSMUSP00000131523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076349] [ENSMUST00000115103] [ENSMUST00000139965] [ENSMUST00000165288]
AlphaFold Q9Z2W9
Predicted Effect possibly damaging
Transcript: ENSMUST00000076349
AA Change: V254A

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075687
Gene: ENSMUSG00000001986
AA Change: V254A

DomainStartEndE-ValueType
low complexity region 9 24 N/A INTRINSIC
Pfam:ANF_receptor 40 383 9.5e-58 PFAM
low complexity region 403 414 N/A INTRINSIC
PBPe 418 795 2.26e-126 SMART
Lig_chan-Glu_bd 428 493 4.8e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115103
AA Change: V254A

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110755
Gene: ENSMUSG00000001986
AA Change: V254A

DomainStartEndE-ValueType
low complexity region 9 24 N/A INTRINSIC
Pfam:ANF_receptor 40 383 2.9e-64 PFAM
low complexity region 403 414 N/A INTRINSIC
PBPe 418 795 6.85e-126 SMART
Lig_chan-Glu_bd 428 493 4.8e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128197
Predicted Effect possibly damaging
Transcript: ENSMUST00000139965
AA Change: V254A

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116381
Gene: ENSMUSG00000001986
AA Change: V254A

DomainStartEndE-ValueType
low complexity region 9 24 N/A INTRINSIC
Pfam:ANF_receptor 40 383 2.4e-64 PFAM
low complexity region 403 414 N/A INTRINSIC
PBPe 418 795 6.85e-126 SMART
Lig_chan-Glu_bd 428 493 4.8e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156721
Predicted Effect possibly damaging
Transcript: ENSMUST00000165288
AA Change: V254A

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131523
Gene: ENSMUSG00000001986
AA Change: V254A

DomainStartEndE-ValueType
low complexity region 9 24 N/A INTRINSIC
Pfam:ANF_receptor 40 383 1.6e-57 PFAM
low complexity region 403 414 N/A INTRINSIC
PBPe 418 795 6.85e-126 SMART
Lig_chan-Glu_bd 428 493 4.8e-31 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a multi-pass transmembrane protein that forms a homotetramer or heterotetramer in neuronal cells. The encoded protein is a ligand-gated ion channel that responds to the neurotransmitter L-glutamate to promote synaptic transmission. Deficiency of this gene leads to behavioral phenotypes. The transcript is subject to RNA editing at codon 769 (AGA->GGA; R->G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Male mice hemizygous for one allele display reduced fertility and enhanced long term potentiation. Male mice hemizygous for a second allele display decreased thermal nociception, resistance to drug induced seizures and a decreased startle reflex; and homozygous female mice have decreased body weight [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A T 1: 58,096,569 (GRCm39) probably benign Het
Arhgap4 A G X: 72,943,699 (GRCm39) probably benign Het
Ascc3 T G 10: 50,525,413 (GRCm39) probably benign Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Car10 T C 11: 93,487,969 (GRCm39) I222T possibly damaging Het
Cep250 G A 2: 155,804,054 (GRCm39) V55M probably damaging Het
Chst4 T A 8: 110,756,597 (GRCm39) Y422F probably benign Het
Dnajc13 T C 9: 104,108,220 (GRCm39) E185G probably benign Het
Dtx2 T A 5: 136,058,057 (GRCm39) M454K possibly damaging Het
Flg2 T A 3: 93,127,513 (GRCm39) S2142T unknown Het
Ganc C T 2: 120,276,996 (GRCm39) T686M possibly damaging Het
Gm53 C T 11: 96,142,594 (GRCm39) noncoding transcript Het
H2-DMb2 G T 17: 34,367,587 (GRCm39) A3S probably damaging Het
H2-DMb2 A G 17: 34,366,694 (GRCm39) Y42C probably damaging Het
Mtrex A T 13: 113,051,023 (GRCm39) I184K probably damaging Het
Myzap T C 9: 71,454,042 (GRCm39) E343G probably damaging Het
Nap1l2 T C X: 102,228,922 (GRCm39) D332G probably benign Het
Npr1 T G 3: 90,365,669 (GRCm39) D628A probably damaging Het
Raet1e T C 10: 22,057,219 (GRCm39) L181S probably damaging Het
Rnf43 G T 11: 87,622,718 (GRCm39) M606I probably benign Het
Serpinb6b G A 13: 33,162,049 (GRCm39) D283N possibly damaging Het
Slit2 A G 5: 48,374,785 (GRCm39) probably null Het
Supt5 C T 7: 28,023,213 (GRCm39) W323* probably null Het
Svep1 T A 4: 58,068,760 (GRCm39) I3009F possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tll1 T C 8: 64,523,266 (GRCm39) Y482C probably benign Het
Trappc8 G A 18: 20,970,035 (GRCm39) T985I probably benign Het
Zfp945 T C 17: 23,071,359 (GRCm39) K180R probably damaging Het
Other mutations in Gria3
AlleleSourceChrCoordTypePredicted EffectPPH Score
Z1176:Gria3 UTSW X 40,567,524 (GRCm39) missense probably benign 0.09
Posted On 2013-06-21