Incidental Mutation 'IGL01941:Grik5'
ID 181157
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grik5
Ensembl Gene ENSMUSG00000003378
Gene Name glutamate receptor, ionotropic, kainate 5 (gamma 2)
Synonyms KA2, GluRgamma2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # IGL01941
Quality Score
Status
Chromosome 7
Chromosomal Location 24709274-24771771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24764607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 152 (I152N)
Ref Sequence ENSEMBL: ENSMUSP00000146227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003468] [ENSMUST00000205328] [ENSMUST00000206134]
AlphaFold Q61626
Predicted Effect probably damaging
Transcript: ENSMUST00000003468
AA Change: I152N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: I152N

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 noncoding transcript
Transcript: ENSMUST00000205661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206095
Predicted Effect probably damaging
Transcript: ENSMUST00000206134
AA Change: I152N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,094,802 (GRCm39) L123Q probably benign Het
Abca2 C T 2: 25,333,107 (GRCm39) S1602F probably benign Het
Abcc9 C A 6: 142,551,630 (GRCm39) C1191F probably damaging Het
Adam3 G T 8: 25,171,462 (GRCm39) probably benign Het
Aldh1l1 G T 6: 90,539,677 (GRCm39) G202V probably damaging Het
Ankrd46 T C 15: 36,486,083 (GRCm39) N57D possibly damaging Het
Asic1 A T 15: 99,596,982 (GRCm39) H548L possibly damaging Het
Atpaf2 A G 11: 60,294,724 (GRCm39) I233T probably benign Het
Ccdc185 G T 1: 182,575,769 (GRCm39) Q307K probably benign Het
Cep120 T C 18: 53,856,220 (GRCm39) D399G probably benign Het
Cnn2 G A 10: 79,828,388 (GRCm39) V122M probably benign Het
Dgkd T C 1: 87,852,281 (GRCm39) S472P probably damaging Het
Dock5 A C 14: 68,049,681 (GRCm39) I701S probably damaging Het
Efl1 A G 7: 82,347,184 (GRCm39) E570G probably benign Het
Eln G A 5: 134,747,024 (GRCm39) probably benign Het
Fat2 A G 11: 55,202,831 (GRCm39) V81A probably benign Het
Fbxw21 T G 9: 108,977,224 (GRCm39) I162L probably benign Het
Fhl2 G A 1: 43,170,832 (GRCm39) Q161* probably null Het
Gabrg2 A G 11: 41,862,548 (GRCm39) Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
H2-Ab1 A T 17: 34,486,408 (GRCm39) K156* probably null Het
Hecw1 T C 13: 14,490,895 (GRCm39) Y699C probably benign Het
Ipo9 A C 1: 135,335,811 (GRCm39) V202G possibly damaging Het
Itprid1 A G 6: 55,945,030 (GRCm39) R584G probably benign Het
Jmjd6 A T 11: 116,732,184 (GRCm39) probably null Het
Lama5 A G 2: 179,834,185 (GRCm39) I1416T possibly damaging Het
Matn1 T C 4: 130,679,572 (GRCm39) probably benign Het
Mavs T C 2: 131,088,525 (GRCm39) V443A probably damaging Het
Mpdz A T 4: 81,204,624 (GRCm39) S1798R possibly damaging Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Or4a78 A T 2: 89,497,812 (GRCm39) C139* probably null Het
Otud7b G T 3: 96,062,776 (GRCm39) G672C probably benign Het
Palld T A 8: 61,988,734 (GRCm39) T572S probably benign Het
Pde6b T A 5: 108,570,902 (GRCm39) V379E probably benign Het
Peak1 A G 9: 56,166,059 (GRCm39) V623A probably damaging Het
Prr12 C T 7: 44,698,083 (GRCm39) probably benign Het
Rxra T C 2: 27,644,253 (GRCm39) I315T probably damaging Het
Slc11a1 C T 1: 74,416,338 (GRCm39) A55V probably damaging Het
Slitrk3 T C 3: 72,958,404 (GRCm39) N123D possibly damaging Het
Smr2l A G 5: 88,430,301 (GRCm39) S66G probably benign Het
Spcs1 A G 14: 30,722,829 (GRCm39) M82T probably damaging Het
Sspo A G 6: 48,472,116 (GRCm39) E113G probably benign Het
Syne2 A G 12: 76,013,994 (GRCm39) K3062E probably benign Het
Traf3ip2 T C 10: 39,510,656 (GRCm39) S310P probably benign Het
Ubp1 T C 9: 113,785,826 (GRCm39) L167S probably damaging Het
Vmn1r196 T A 13: 22,477,869 (GRCm39) C169* probably null Het
Vmn1r223 T A 13: 23,434,407 (GRCm39) F334I possibly damaging Het
Vmn2r10 A T 5: 109,143,820 (GRCm39) I710N probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wdr26 A G 1: 181,038,635 (GRCm39) probably benign Het
Wnt7a A G 6: 91,371,645 (GRCm39) F106L probably benign Het
Zfp940 C T 7: 29,546,295 (GRCm39) V34M probably damaging Het
Other mutations in Grik5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Grik5 APN 7 24,764,818 (GRCm39) missense probably damaging 1.00
IGL00974:Grik5 APN 7 24,713,310 (GRCm39) missense probably damaging 1.00
IGL02642:Grik5 APN 7 24,758,408 (GRCm39) missense possibly damaging 0.51
IGL03177:Grik5 APN 7 24,714,879 (GRCm39) missense probably damaging 1.00
IGL03402:Grik5 APN 7 24,714,894 (GRCm39) missense probably damaging 1.00
Griffin UTSW 7 24,758,502 (GRCm39) missense possibly damaging 0.78
G1citation:Grik5 UTSW 7 24,745,780 (GRCm39) missense possibly damaging 0.46
PIT4453001:Grik5 UTSW 7 24,710,119 (GRCm39) missense probably damaging 0.99
R0077:Grik5 UTSW 7 24,722,805 (GRCm39) missense probably damaging 1.00
R0412:Grik5 UTSW 7 24,713,099 (GRCm39) missense possibly damaging 0.59
R0427:Grik5 UTSW 7 24,757,923 (GRCm39) missense probably benign 0.34
R1191:Grik5 UTSW 7 24,757,750 (GRCm39) nonsense probably null
R1830:Grik5 UTSW 7 24,745,726 (GRCm39) missense possibly damaging 0.94
R2072:Grik5 UTSW 7 24,714,738 (GRCm39) missense possibly damaging 0.92
R2369:Grik5 UTSW 7 24,757,962 (GRCm39) missense probably damaging 1.00
R3410:Grik5 UTSW 7 24,762,397 (GRCm39) missense probably benign 0.04
R3411:Grik5 UTSW 7 24,762,397 (GRCm39) missense probably benign 0.04
R3615:Grik5 UTSW 7 24,721,996 (GRCm39) missense probably benign 0.37
R3616:Grik5 UTSW 7 24,721,996 (GRCm39) missense probably benign 0.37
R4600:Grik5 UTSW 7 24,767,489 (GRCm39) missense probably damaging 0.99
R4658:Grik5 UTSW 7 24,760,152 (GRCm39) splice site probably benign
R4735:Grik5 UTSW 7 24,757,713 (GRCm39) missense probably damaging 1.00
R4810:Grik5 UTSW 7 24,714,922 (GRCm39) missense probably damaging 0.98
R5113:Grik5 UTSW 7 24,714,952 (GRCm39) missense probably damaging 1.00
R5120:Grik5 UTSW 7 24,710,065 (GRCm39) missense probably damaging 1.00
R5132:Grik5 UTSW 7 24,764,629 (GRCm39) missense probably benign 0.02
R5173:Grik5 UTSW 7 24,762,319 (GRCm39) missense possibly damaging 0.76
R5186:Grik5 UTSW 7 24,715,244 (GRCm39) missense probably damaging 1.00
R5239:Grik5 UTSW 7 24,764,895 (GRCm39) missense probably damaging 1.00
R5935:Grik5 UTSW 7 24,758,502 (GRCm39) missense possibly damaging 0.78
R6335:Grik5 UTSW 7 24,713,019 (GRCm39) missense probably benign
R6609:Grik5 UTSW 7 24,714,951 (GRCm39) nonsense probably null
R6760:Grik5 UTSW 7 24,758,364 (GRCm39) critical splice donor site probably null
R6820:Grik5 UTSW 7 24,745,780 (GRCm39) missense possibly damaging 0.46
R6821:Grik5 UTSW 7 24,745,780 (GRCm39) missense possibly damaging 0.46
R6822:Grik5 UTSW 7 24,745,780 (GRCm39) missense possibly damaging 0.46
R6824:Grik5 UTSW 7 24,745,780 (GRCm39) missense possibly damaging 0.46
R7173:Grik5 UTSW 7 24,767,587 (GRCm39) missense probably damaging 1.00
R7230:Grik5 UTSW 7 24,722,495 (GRCm39) missense probably damaging 1.00
R7555:Grik5 UTSW 7 24,760,022 (GRCm39) missense probably benign
R7560:Grik5 UTSW 7 24,757,951 (GRCm39) missense probably damaging 0.99
R7571:Grik5 UTSW 7 24,713,310 (GRCm39) missense possibly damaging 0.87
R8228:Grik5 UTSW 7 24,745,735 (GRCm39) missense possibly damaging 0.93
R8228:Grik5 UTSW 7 24,709,933 (GRCm39) missense probably damaging 1.00
R8681:Grik5 UTSW 7 24,709,897 (GRCm39) missense probably benign 0.06
R8879:Grik5 UTSW 7 24,722,489 (GRCm39) missense possibly damaging 0.95
R8933:Grik5 UTSW 7 24,722,743 (GRCm39) missense probably benign 0.11
R9129:Grik5 UTSW 7 24,767,429 (GRCm39) splice site probably benign
R9130:Grik5 UTSW 7 24,767,429 (GRCm39) splice site probably benign
R9154:Grik5 UTSW 7 24,758,403 (GRCm39) missense probably damaging 1.00
R9317:Grik5 UTSW 7 24,745,660 (GRCm39) missense probably damaging 0.99
R9355:Grik5 UTSW 7 24,767,597 (GRCm39) missense possibly damaging 0.82
R9406:Grik5 UTSW 7 24,757,969 (GRCm39) missense probably benign 0.00
X0017:Grik5 UTSW 7 24,760,013 (GRCm39) missense probably damaging 1.00
Z1176:Grik5 UTSW 7 24,713,229 (GRCm39) missense probably damaging 0.98
Z1177:Grik5 UTSW 7 24,715,250 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07