Incidental Mutation 'IGL03307:Grik3'
ID416423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grik3
Ensembl Gene ENSMUSG00000001985
Gene Nameglutamate receptor, ionotropic, kainate 3
SynonymsGlur7, Glur-7
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.260) question?
Stock #IGL03307
Quality Score
Status
Chromosome4
Chromosomal Location125490700-125714173 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 125641554 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 248 (M248T)
Ref Sequence ENSEMBL: ENSMUSP00000030676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030676]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030676
AA Change: M248T

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: M248T

DomainStartEndE-ValueType
Pfam:ANF_receptor 55 398 7.8e-72 PFAM
PBPe 435 802 4.38e-133 SMART
Lig_chan-Glu_bd 445 509 5.77e-34 SMART
transmembrane domain 823 845 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. Transcript variants encoding different isoforms have been described for this gene, however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significantly reduced short- and long-term synaptic potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T C 12: 88,459,053 I417T possibly damaging Het
Arrdc1 A T 2: 24,926,342 I205N probably damaging Het
Atp6v1a A G 16: 44,111,559 V122A possibly damaging Het
Atp8a2 A G 14: 60,015,872 probably null Het
Cdh18 A G 15: 23,226,786 H111R probably damaging Het
Cpsf3 T A 12: 21,296,714 I196N possibly damaging Het
Cyp2b9 C T 7: 26,199,051 S277L probably benign Het
Gusb T C 5: 130,000,031 *145W probably null Het
Il18rap T C 1: 40,543,067 Y383H probably benign Het
Lama4 T C 10: 39,017,383 V162A probably benign Het
Macc1 A T 12: 119,446,420 M308L probably benign Het
Olfr591 C T 7: 103,173,416 V74I probably benign Het
Olfr944 A T 9: 39,218,013 I219F probably benign Het
Postn A G 3: 54,375,127 D503G probably benign Het
Robo3 A T 9: 37,422,564 V658D probably damaging Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Setd1b C A 5: 123,148,671 D593E unknown Het
Slc2a13 C T 15: 91,276,114 V546M probably damaging Het
Spock1 T C 13: 57,429,347 D423G probably null Het
Stox2 T C 8: 47,194,030 T132A probably damaging Het
Tcrg-C1 A G 13: 19,214,358 probably benign Het
Tle2 T C 10: 81,590,240 S703P probably damaging Het
Ttc41 T C 10: 86,744,440 I750T possibly damaging Het
Vmn2r107 A T 17: 20,356,776 K345N probably benign Het
Vmn2r60 T C 7: 42,116,547 V26A probably benign Het
Vmn2r98 G A 17: 19,065,980 V247I possibly damaging Het
Zan A G 5: 137,474,025 V153A probably damaging Het
Other mutations in Grik3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Grik3 APN 4 125632415 missense probably benign
IGL01534:Grik3 APN 4 125686190 missense probably damaging 1.00
IGL01538:Grik3 APN 4 125694036 missense possibly damaging 0.90
IGL02276:Grik3 APN 4 125623502 missense possibly damaging 0.86
IGL02323:Grik3 APN 4 125685990 splice site probably benign
IGL02475:Grik3 APN 4 125650517 missense probably benign
IGL03198:Grik3 APN 4 125659762 missense probably benign 0.25
R0054:Grik3 UTSW 4 125623575 missense probably damaging 1.00
R0054:Grik3 UTSW 4 125623575 missense probably damaging 1.00
R0116:Grik3 UTSW 4 125670556 missense probably benign 0.01
R0208:Grik3 UTSW 4 125686165 missense probably damaging 1.00
R0497:Grik3 UTSW 4 125623510 missense possibly damaging 0.82
R1295:Grik3 UTSW 4 125704564 splice site probably benign
R1296:Grik3 UTSW 4 125704564 splice site probably benign
R1515:Grik3 UTSW 4 125670728 missense probably benign 0.37
R1559:Grik3 UTSW 4 125707997 missense probably benign 0.16
R1617:Grik3 UTSW 4 125691192 missense probably benign
R1848:Grik3 UTSW 4 125694138 missense probably damaging 1.00
R2903:Grik3 UTSW 4 125670644 missense probably damaging 1.00
R3440:Grik3 UTSW 4 125693970 missense probably damaging 1.00
R3440:Grik3 UTSW 4 125693971 missense probably damaging 1.00
R3442:Grik3 UTSW 4 125693970 missense probably damaging 1.00
R3442:Grik3 UTSW 4 125693971 missense probably damaging 1.00
R3842:Grik3 UTSW 4 125693954 splice site probably benign
R4649:Grik3 UTSW 4 125650485 missense probably damaging 1.00
R4841:Grik3 UTSW 4 125691176 missense probably damaging 1.00
R4842:Grik3 UTSW 4 125691176 missense probably damaging 1.00
R5093:Grik3 UTSW 4 125670589 missense probably benign
R5318:Grik3 UTSW 4 125694136 missense probably damaging 0.96
R5549:Grik3 UTSW 4 125686045 missense possibly damaging 0.95
R6221:Grik3 UTSW 4 125705123 missense probably damaging 0.99
R6226:Grik3 UTSW 4 125659789 missense probably benign 0.04
R6306:Grik3 UTSW 4 125632412 missense probably benign 0.01
R6672:Grik3 UTSW 4 125623516 missense probably benign 0.08
R6682:Grik3 UTSW 4 125650466 missense probably damaging 1.00
R6783:Grik3 UTSW 4 125632300 missense probably benign 0.01
R7390:Grik3 UTSW 4 125649739 missense probably damaging 1.00
Posted On2016-08-02