Incidental Mutation 'IGL02652:Grik4'
ID 302194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grik4
Ensembl Gene ENSMUSG00000032017
Gene Name glutamate receptor, ionotropic, kainate 4
Synonyms KA1, 6330551K01Rik, GluRgamma1, KA-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02652
Quality Score
Status
Chromosome 9
Chromosomal Location 42431708-42856296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42586573 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BMF5
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: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Grik4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Grik4 APN 9 42,432,472 (GRCm39) missense probably damaging 0.99
IGL01929:Grik4 APN 9 42,477,594 (GRCm39) critical splice donor site probably null
IGL02049:Grik4 APN 9 42,455,049 (GRCm39) splice site probably benign
IGL02331:Grik4 APN 9 42,453,284 (GRCm39) missense probably damaging 1.00
IGL02817:Grik4 APN 9 42,534,235 (GRCm39) missense probably benign 0.00
IGL02945:Grik4 APN 9 42,509,175 (GRCm39) missense possibly damaging 0.92
IGL03100:Grik4 APN 9 42,461,751 (GRCm39) missense probably damaging 0.99
IGL03168:Grik4 APN 9 42,582,539 (GRCm39) missense probably damaging 1.00
R0420:Grik4 UTSW 9 42,533,392 (GRCm39) nonsense probably null
R0894:Grik4 UTSW 9 42,599,405 (GRCm39) splice site probably benign
R1458:Grik4 UTSW 9 42,432,418 (GRCm39) missense probably benign 0.21
R1502:Grik4 UTSW 9 42,502,743 (GRCm39) missense probably benign 0.03
R1502:Grik4 UTSW 9 42,432,169 (GRCm39) missense probably damaging 0.97
R1808:Grik4 UTSW 9 42,540,322 (GRCm39) missense probably benign 0.19
R1945:Grik4 UTSW 9 42,432,300 (GRCm39) missense possibly damaging 0.79
R2180:Grik4 UTSW 9 42,453,301 (GRCm39) missense probably benign 0.45
R2203:Grik4 UTSW 9 42,458,951 (GRCm39) missense probably damaging 1.00
R2336:Grik4 UTSW 9 42,477,651 (GRCm39) missense probably damaging 1.00
R2508:Grik4 UTSW 9 42,533,438 (GRCm39) missense probably damaging 1.00
R2890:Grik4 UTSW 9 42,582,515 (GRCm39) missense probably damaging 1.00
R3702:Grik4 UTSW 9 42,586,514 (GRCm39) missense probably damaging 0.97
R3834:Grik4 UTSW 9 42,540,419 (GRCm39) missense probably benign 0.04
R4082:Grik4 UTSW 9 42,509,180 (GRCm39) missense probably benign 0.00
R4604:Grik4 UTSW 9 42,435,882 (GRCm39) missense probably damaging 1.00
R4711:Grik4 UTSW 9 42,540,389 (GRCm39) missense probably damaging 1.00
R5417:Grik4 UTSW 9 42,582,544 (GRCm39) missense probably benign 0.45
R5540:Grik4 UTSW 9 42,432,243 (GRCm39) missense probably damaging 0.99
R5680:Grik4 UTSW 9 42,540,415 (GRCm39) missense probably benign
R5740:Grik4 UTSW 9 42,719,863 (GRCm39) missense possibly damaging 0.88
R5876:Grik4 UTSW 9 42,599,319 (GRCm39) missense probably damaging 1.00
R5911:Grik4 UTSW 9 42,502,720 (GRCm39) missense probably damaging 1.00
R6319:Grik4 UTSW 9 42,477,632 (GRCm39) missense probably damaging 1.00
R6475:Grik4 UTSW 9 42,540,304 (GRCm39) missense probably benign 0.01
R6544:Grik4 UTSW 9 42,459,024 (GRCm39) nonsense probably null
R7065:Grik4 UTSW 9 42,455,127 (GRCm39) missense probably damaging 1.00
R7278:Grik4 UTSW 9 42,533,356 (GRCm39) missense probably benign 0.25
R7605:Grik4 UTSW 9 42,599,367 (GRCm39) missense probably damaging 1.00
R7984:Grik4 UTSW 9 42,582,557 (GRCm39) nonsense probably null
R8786:Grik4 UTSW 9 42,453,130 (GRCm39) missense probably damaging 1.00
R9104:Grik4 UTSW 9 42,571,168 (GRCm39) missense probably damaging 1.00
R9443:Grik4 UTSW 9 42,571,037 (GRCm39) missense probably benign 0.02
R9615:Grik4 UTSW 9 42,502,765 (GRCm39) nonsense probably null
X0028:Grik4 UTSW 9 42,586,523 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16