Incidental Mutation 'IGL00974:Grik5'
ID 27925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grik5
Ensembl Gene ENSMUSG00000003378
Gene Name glutamate receptor, ionotropic, kainate 5 (gamma 2)
Synonyms GluRgamma2, KA2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # IGL00974
Quality Score
Status
Chromosome 7
Chromosomal Location 25009849-25072346 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25013885 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 766 (I766N)
Ref Sequence ENSEMBL: ENSMUSP00000003468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003468] [ENSMUST00000205328] [ENSMUST00000206134]
AlphaFold Q61626
Predicted Effect probably damaging
Transcript: ENSMUST00000003468
AA Change: I766N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: I766N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ANF_receptor 40 381 3.4e-64 PFAM
PBPe 416 785 3.7e-122 SMART
Lig_chan-Glu_bd 426 490 1.65e-29 SMART
transmembrane domain 804 823 N/A INTRINSIC
low complexity region 859 872 N/A INTRINSIC
low complexity region 893 921 N/A INTRINSIC
low complexity region 962 973 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205328
Predicted Effect probably benign
Transcript: ENSMUST00000206134
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one allele display abnormal hippocampal synapse function. Mice homozygous for a second allele display decreased thermal nociception, increased startle response and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brwd1 T A 16: 96,043,026 K776M probably damaging Het
Crisp4 T C 1: 18,128,647 T188A probably damaging Het
E130311K13Rik T A 3: 63,920,363 probably null Het
Fyb A G 15: 6,642,585 probably benign Het
Gcn1l1 G A 5: 115,613,793 V2076M possibly damaging Het
Grk3 A G 5: 112,985,819 Y46H probably damaging Het
Gtf2a1l A G 17: 88,714,949 D456G probably damaging Het
Kcna10 A G 3: 107,195,331 D426G probably damaging Het
Luzp2 A T 7: 55,075,026 I112F probably damaging Het
Med12l G T 3: 59,083,014 R519M probably damaging Het
Mrpl39 G A 16: 84,723,852 P300S probably damaging Het
Polr3a A T 14: 24,479,424 I328N probably benign Het
Slc22a8 A G 19: 8,609,926 N450S probably damaging Het
Slc38a4 T C 15: 96,999,516 T473A probably benign Het
Slc4a7 C T 14: 14,760,292 P576S probably benign Het
Tecta A G 9: 42,331,374 I2057T probably benign Het
Tnks1bp1 C T 2: 85,062,882 T389I possibly damaging Het
Tnxb T C 17: 34,718,733 probably null Het
Tsc22d1 A G 14: 76,506,442 Y10C probably damaging Het
Vmn1r34 T C 6: 66,637,655 H33R possibly damaging Het
Vmn2r102 G T 17: 19,677,509 W262L possibly damaging Het
Other mutations in Grik5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Grik5 APN 7 25065393 missense probably damaging 1.00
IGL01941:Grik5 APN 7 25065182 missense probably damaging 1.00
IGL02642:Grik5 APN 7 25058983 missense possibly damaging 0.51
IGL03177:Grik5 APN 7 25015454 missense probably damaging 1.00
IGL03402:Grik5 APN 7 25015469 missense probably damaging 1.00
Griffin UTSW 7 25059077 missense possibly damaging 0.78
G1citation:Grik5 UTSW 7 25046355 missense possibly damaging 0.46
PIT4453001:Grik5 UTSW 7 25010694 missense probably damaging 0.99
R0077:Grik5 UTSW 7 25023380 missense probably damaging 1.00
R0412:Grik5 UTSW 7 25013674 missense possibly damaging 0.59
R0427:Grik5 UTSW 7 25058498 missense probably benign 0.34
R1191:Grik5 UTSW 7 25058325 nonsense probably null
R1830:Grik5 UTSW 7 25046301 missense possibly damaging 0.94
R2072:Grik5 UTSW 7 25015313 missense possibly damaging 0.92
R2369:Grik5 UTSW 7 25058537 missense probably damaging 1.00
R3410:Grik5 UTSW 7 25062972 missense probably benign 0.04
R3411:Grik5 UTSW 7 25062972 missense probably benign 0.04
R3615:Grik5 UTSW 7 25022571 missense probably benign 0.37
R3616:Grik5 UTSW 7 25022571 missense probably benign 0.37
R4600:Grik5 UTSW 7 25068064 missense probably damaging 0.99
R4658:Grik5 UTSW 7 25060727 splice site probably benign
R4735:Grik5 UTSW 7 25058288 missense probably damaging 1.00
R4810:Grik5 UTSW 7 25015497 missense probably damaging 0.98
R5113:Grik5 UTSW 7 25015527 missense probably damaging 1.00
R5120:Grik5 UTSW 7 25010640 missense probably damaging 1.00
R5132:Grik5 UTSW 7 25065204 missense probably benign 0.02
R5173:Grik5 UTSW 7 25062894 missense possibly damaging 0.76
R5186:Grik5 UTSW 7 25015819 missense probably damaging 1.00
R5239:Grik5 UTSW 7 25065470 missense probably damaging 1.00
R5935:Grik5 UTSW 7 25059077 missense possibly damaging 0.78
R6335:Grik5 UTSW 7 25013594 missense probably benign
R6609:Grik5 UTSW 7 25015526 nonsense probably null
R6760:Grik5 UTSW 7 25058939 critical splice donor site probably null
R6820:Grik5 UTSW 7 25046355 missense possibly damaging 0.46
R6821:Grik5 UTSW 7 25046355 missense possibly damaging 0.46
R6822:Grik5 UTSW 7 25046355 missense possibly damaging 0.46
R6824:Grik5 UTSW 7 25046355 missense possibly damaging 0.46
R7173:Grik5 UTSW 7 25068162 missense probably damaging 1.00
R7230:Grik5 UTSW 7 25023070 missense probably damaging 1.00
R7555:Grik5 UTSW 7 25060597 missense probably benign
R7560:Grik5 UTSW 7 25058526 missense probably damaging 0.99
R7571:Grik5 UTSW 7 25013885 missense possibly damaging 0.87
R8228:Grik5 UTSW 7 25010508 missense probably damaging 1.00
R8228:Grik5 UTSW 7 25046310 missense possibly damaging 0.93
R8681:Grik5 UTSW 7 25010472 missense probably benign 0.06
R8879:Grik5 UTSW 7 25023064 missense possibly damaging 0.95
R8933:Grik5 UTSW 7 25023318 missense probably benign 0.11
R9129:Grik5 UTSW 7 25068004 splice site probably benign
R9130:Grik5 UTSW 7 25068004 splice site probably benign
R9154:Grik5 UTSW 7 25058978 missense probably damaging 1.00
R9317:Grik5 UTSW 7 25046235 missense probably damaging 0.99
R9355:Grik5 UTSW 7 25068172 missense possibly damaging 0.82
R9406:Grik5 UTSW 7 25058544 missense probably benign 0.00
X0017:Grik5 UTSW 7 25060588 missense probably damaging 1.00
Z1176:Grik5 UTSW 7 25013804 missense probably damaging 0.98
Z1177:Grik5 UTSW 7 25015825 missense probably damaging 1.00
Posted On 2013-04-17