Incidental Mutation 'IGL01929:Grik4'
ID180393
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: 0.090) question?
Stock #IGL01929
Quality Score
Status
Chromosome9
Chromosomal Location42518135-42944493 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 42566298 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034515] [ENSMUST00000034515] [ENSMUST00000114865]
Predicted Effect probably null
Transcript: ENSMUST00000034515
SMART Domains Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017

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 null
Transcript: ENSMUST00000034515
SMART Domains Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017

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 null
Transcript: ENSMUST00000114865
SMART Domains Protein: ENSMUSP00000110515
Gene: ENSMUSG00000032017

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,344,138 P467S probably benign Het
Areg T C 5: 91,144,453 I204T probably benign Het
Dnah3 A T 7: 119,951,651 Y3137* probably null Het
Dnajc10 T G 2: 80,328,076 C270W probably damaging Het
Epc1 A G 18: 6,449,217 F427L possibly damaging Het
Fcgbp A T 7: 28,103,963 D1664V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm4951 A G 18: 60,246,482 E363G probably benign Het
Gm6686 G A 17: 15,566,315 probably benign Het
H2-Oa G A 17: 34,094,082 probably null Het
Il20ra T G 10: 19,759,271 L420R probably benign Het
Kcnk2 A G 1: 189,340,030 S34P probably damaging Het
Klc4 A G 17: 46,644,247 probably null Het
Large1 T C 8: 72,859,275 Y401C probably damaging Het
Lrrc59 T C 11: 94,643,516 V300A possibly damaging Het
Myom2 T A 8: 15,117,698 D1094E probably damaging Het
Nfrkb T A 9: 31,419,873 I1230N possibly damaging Het
Olfr543 A G 7: 102,477,166 S235P possibly damaging Het
Prr14l T C 5: 32,828,243 T146A probably benign Het
Psmd5 A G 2: 34,863,466 V221A probably damaging Het
Ptchd4 A T 17: 42,503,322 T705S probably benign Het
Ptprm G A 17: 66,690,549 A1184V probably damaging Het
Rb1cc1 G T 1: 6,240,159 K260N possibly damaging Het
Rbm28 T A 6: 29,128,585 D46V possibly damaging Het
Sdk1 T C 5: 141,953,030 Y403H probably damaging Het
Slco3a1 A G 7: 74,318,605 probably benign Het
Slfn8 T A 11: 83,003,405 K803* probably null Het
Vmn2r82 A T 10: 79,378,711 D176V probably damaging Het
Vmn2r-ps130 A T 17: 23,076,877 I674F possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr70 A T 15: 7,920,634 probably null Het
Xdh A T 17: 73,934,855 C150S probably damaging Het
Xpo5 G T 17: 46,202,929 M3I probably benign Het
Other mutations in Grik4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Grik4 APN 9 42521176 missense probably damaging 0.99
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
IGL03100:Grik4 APN 9 42550455 missense probably damaging 0.99
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 On2014-05-07