Incidental Mutation 'IGL03100:Grik4'
ID418703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grik4
Ensembl Gene ENSMUSG00000032017
Gene Nameglutamate receptor, ionotropic, kainate 4
Synonyms6330551K01Rik, GluRgamma1, KA-1, KA1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL03100
Quality Score
Status
Chromosome9
Chromosomal Location42518135-42944493 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42550455 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 551 (M551T)
Ref Sequence ENSEMBL: ENSMUSP00000110515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034515] [ENSMUST00000114865]
Predicted Effect probably damaging
Transcript: ENSMUST00000034515
AA Change: M551T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017
AA Change: M551T

DomainStartEndE-ValueType
Pfam:ANF_receptor 41 382 2.7e-60 PFAM
PBPe 417 786 1.88e-132 SMART
Lig_chan-Glu_bd 427 491 5.91e-31 SMART
transmembrane domain 805 827 N/A INTRINSIC
low complexity region 900 913 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114865
AA Change: M551T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110515
Gene: ENSMUSG00000032017
AA Change: M551T

DomainStartEndE-ValueType
Pfam:ANF_receptor 41 382 5.1e-66 PFAM
PBPe 417 786 1.88e-132 SMART
Lig_chan-Glu_bd 427 491 5.91e-31 SMART
transmembrane domain 805 827 N/A INTRINSIC
low complexity region 900 913 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.] This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced GYKI-resistant excitatory postsynaptic current. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,258,527 R233S probably benign Het
Abcc9 A T 6: 142,694,544 W73R probably damaging Het
Ago1 A G 4: 126,443,171 V247A probably benign Het
Anpep T A 7: 79,836,361 T538S probably benign Het
Asb14 A G 14: 26,903,372 K228R probably benign Het
Atp6v0d2 C T 4: 19,910,586 probably null Het
B3gat2 A T 1: 23,763,191 D186V probably damaging Het
Bmpr1a A T 14: 34,441,207 probably benign Het
Carmil3 A G 14: 55,494,718 D224G probably damaging Het
Cd6 T C 19: 10,792,939 M463V probably benign Het
Clasp1 T C 1: 118,467,896 I188T possibly damaging Het
Cldn17 G T 16: 88,506,601 A80E probably damaging Het
Clptm1l A G 13: 73,612,390 probably benign Het
Col6a5 A T 9: 105,937,313 V500E unknown Het
Ctdspl2 C T 2: 121,978,913 T115I probably benign Het
Dbh G T 2: 27,165,522 A3S probably benign Het
Fgd4 A G 16: 16,477,519 probably benign Het
Gm4952 T A 19: 12,624,719 probably null Het
Hecw2 T C 1: 53,831,656 I1389V probably damaging Het
Hkdc1 T C 10: 62,417,829 T58A probably benign Het
Kcnh2 T C 5: 24,322,684 K890R probably damaging Het
Kif24 T C 4: 41,394,446 H809R possibly damaging Het
Knl1 A G 2: 119,100,770 E1989G probably damaging Het
Muc15 A G 2: 110,731,594 D125G probably damaging Het
Ogdhl A T 14: 32,342,072 M632L probably benign Het
Prkdc T C 16: 15,713,635 I1374T probably benign Het
Psmd1 T A 1: 86,118,521 N670K possibly damaging Het
Ryr1 T C 7: 29,104,593 H590R probably damaging Het
Scara3 A C 14: 65,931,273 H298Q probably damaging Het
Sirt3 T C 7: 140,865,117 D256G probably damaging Het
Slc13a2 T C 11: 78,404,473 Q158R probably damaging Het
Slco5a1 T A 1: 12,879,280 T629S possibly damaging Het
Speer4f2 A G 5: 17,376,530 K157E probably damaging Het
Srsf1 T A 11: 88,049,128 D155E probably damaging Het
Tln2 C T 9: 67,295,737 R534H probably damaging Het
Ttn A G 2: 76,761,648 probably benign Het
Ube2m A G 7: 13,037,635 L32P probably benign Het
Wdr24 T A 17: 25,825,707 F179I possibly damaging Het
Zfp961 T C 8: 71,967,910 *69Q probably null Het
Other mutations in Grik4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Grik4 APN 9 42521176 missense probably damaging 0.99
IGL01929:Grik4 APN 9 42566298 critical splice donor site probably null
IGL02049:Grik4 APN 9 42543753 splice site probably benign
IGL02331:Grik4 APN 9 42541988 missense probably damaging 1.00
IGL02652:Grik4 APN 9 42675277 missense possibly damaging 0.94
IGL02817:Grik4 APN 9 42622939 missense probably benign 0.00
IGL02945:Grik4 APN 9 42597879 missense possibly damaging 0.92
IGL03168:Grik4 APN 9 42671243 missense probably damaging 1.00
R0420:Grik4 UTSW 9 42622096 nonsense probably null
R0894:Grik4 UTSW 9 42688109 splice site probably benign
R1458:Grik4 UTSW 9 42521122 missense probably benign 0.21
R1502:Grik4 UTSW 9 42520873 missense probably damaging 0.97
R1502:Grik4 UTSW 9 42591447 missense probably benign 0.03
R1808:Grik4 UTSW 9 42629026 missense probably benign 0.19
R1945:Grik4 UTSW 9 42521004 missense possibly damaging 0.79
R2180:Grik4 UTSW 9 42542005 missense probably benign 0.45
R2203:Grik4 UTSW 9 42547655 missense probably damaging 1.00
R2336:Grik4 UTSW 9 42566355 missense probably damaging 1.00
R2508:Grik4 UTSW 9 42622142 missense probably damaging 1.00
R2890:Grik4 UTSW 9 42671219 missense probably damaging 1.00
R3702:Grik4 UTSW 9 42675218 missense probably damaging 0.97
R3834:Grik4 UTSW 9 42629123 missense probably benign 0.04
R4082:Grik4 UTSW 9 42597884 missense probably benign 0.00
R4604:Grik4 UTSW 9 42524586 missense probably damaging 1.00
R4711:Grik4 UTSW 9 42629093 missense probably damaging 1.00
R5417:Grik4 UTSW 9 42671248 missense probably benign 0.45
R5540:Grik4 UTSW 9 42520947 missense probably damaging 0.99
R5680:Grik4 UTSW 9 42629119 missense probably benign
R5740:Grik4 UTSW 9 42808567 missense possibly damaging 0.88
R5876:Grik4 UTSW 9 42688023 missense probably damaging 1.00
R5911:Grik4 UTSW 9 42591424 missense probably damaging 1.00
R6319:Grik4 UTSW 9 42566336 missense probably damaging 1.00
R6475:Grik4 UTSW 9 42629008 missense probably benign 0.01
R6544:Grik4 UTSW 9 42547728 nonsense probably null
R7065:Grik4 UTSW 9 42543831 missense probably damaging 1.00
R7278:Grik4 UTSW 9 42622060 missense probably benign 0.25
X0028:Grik4 UTSW 9 42675227 missense probably damaging 1.00
Posted On2016-08-02