Incidental Mutation 'IGL02652:Grik4'
ID302194
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 #IGL02652
Quality Score
Status
Chromosome9
Chromosomal Location42518135-42944493 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42675277 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 94 (V94A)
Ref Sequence ENSEMBL: ENSMUSP00000110515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034515] [ENSMUST00000114865]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034515
AA Change: V94A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017
AA Change: V94A

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 possibly damaging
Transcript: ENSMUST00000114865
AA Change: V94A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110515
Gene: ENSMUSG00000032017
AA Change: V94A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 67,884,800 D139E probably benign Het
Asph C T 4: 9,529,984 V347I probably benign Het
Ccdc138 A T 10: 58,513,079 D149V probably benign Het
Cep192 A G 18: 67,858,850 probably benign Het
Cnnm2 G A 19: 46,763,211 R480Q probably damaging Het
Col24a1 C A 3: 145,492,301 S1321* probably null Het
Cops6 T G 5: 138,161,438 probably null Het
Crim1 G A 17: 78,315,677 A435T probably damaging Het
Cttn G T 7: 144,441,731 Q382K probably benign Het
Dhx38 A G 8: 109,556,129 L635P probably damaging Het
Dmtf1 T A 5: 9,121,853 T458S probably benign Het
Dnah5 T C 15: 28,366,187 F2682S probably damaging Het
Dnah6 T A 6: 73,095,104 Q2413L probably damaging Het
Dock10 T C 1: 80,592,844 probably null Het
Engase C T 11: 118,478,950 P63S probably damaging Het
Heatr6 T C 11: 83,769,732 V566A probably damaging Het
Hydin A C 8: 110,589,522 T4349P possibly damaging Het
Inpp4b G A 8: 81,770,800 probably benign Het
Mertk A G 2: 128,801,270 E863G probably benign Het
Muc19 T A 15: 91,877,815 noncoding transcript Het
Myo9a T A 9: 59,863,928 F928I probably damaging Het
Nyap2 T C 1: 81,241,720 Y486H probably damaging Het
Oas1e T C 5: 120,795,405 R32G probably damaging Het
Olfr113 A T 17: 37,574,945 Y159* probably null Het
Olfr1298 A G 2: 111,645,494 F168L probably benign Het
Osbpl6 G A 2: 76,593,454 R848Q probably damaging Het
Piezo2 G A 18: 63,024,475 T2388I probably damaging Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Ptpn12 T C 5: 21,002,437 K308E probably benign Het
Rgsl1 A G 1: 153,825,490 L441P probably damaging Het
Rictor T C 15: 6,776,187 probably null Het
Scn2a T A 2: 65,702,038 S665T possibly damaging Het
Scn8a A G 15: 101,013,476 I926V probably damaging Het
Snrpg T C 6: 86,376,528 I30T probably damaging Het
Spryd3 A T 15: 102,118,990 probably null Het
Svil A G 18: 5,114,531 D2036G probably damaging Het
Synj2 A T 17: 6,017,593 I551F probably damaging Het
Tiam2 A T 17: 3,439,696 probably benign Het
Tmem132b T C 5: 125,787,575 F915S probably damaging Het
Try5 C A 6: 41,311,408 V204L probably benign Het
Vmn2r6 T C 3: 64,556,328 T362A probably benign 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
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 On2015-04-16