Incidental Mutation 'R8879:Grik5'
ID 676764
Institutional Source Beutler Lab
Gene Symbol Grik5
Ensembl Gene ENSMUSG00000003378
Gene Name glutamate receptor, ionotropic, kainate 5 (gamma 2)
Synonyms KA2, GluRgamma2
MMRRC Submission 068747-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R8879 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 24709274-24771771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24722489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 540 (D540V)
Ref Sequence ENSEMBL: ENSMUSP00000003468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003468] [ENSMUST00000205328] [ENSMUST00000206134]
AlphaFold Q61626
Predicted Effect possibly damaging
Transcript: ENSMUST00000003468
AA Change: D540V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: D540V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (69/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik C T 15: 57,885,905 (GRCm39) V326M probably damaging Het
Adap2 T A 11: 80,047,785 (GRCm39) H80Q probably benign Het
Ang4 T C 14: 52,001,943 (GRCm39) T2A probably benign Het
Arf2 T C 11: 103,870,585 (GRCm39) probably null Het
B3gnt4 A G 5: 123,649,211 (GRCm39) D192G probably damaging Het
BC034090 T C 1: 155,102,103 (GRCm39) I54V probably benign Het
Catsper3 A G 13: 55,952,708 (GRCm39) T202A probably benign Het
Cenpe T A 3: 134,965,862 (GRCm39) D2113E probably damaging Het
Clasp2 T C 9: 113,602,773 (GRCm39) V191A probably benign Het
Col5a1 G T 2: 27,904,170 (GRCm39) A1356S unknown Het
Cuzd1 A G 7: 130,910,577 (GRCm39) S573P probably damaging Het
Cyp1a2 C A 9: 57,589,168 (GRCm39) M215I possibly damaging Het
Dcaf17 T A 2: 70,893,746 (GRCm39) I122K possibly damaging Het
Dhcr24 A G 4: 106,431,006 (GRCm39) I232V probably benign Het
Dnah10 A G 5: 124,895,181 (GRCm39) E3570G probably damaging Het
Dnaja4 A T 9: 54,621,988 (GRCm39) probably benign Het
Efcab3 T C 11: 104,581,781 (GRCm39) I41T probably benign Het
Ehd1 A G 19: 6,348,354 (GRCm39) D444G probably damaging Het
Ehmt1 T A 2: 24,726,488 (GRCm39) M766L possibly damaging Het
Eno4 A G 19: 58,959,154 (GRCm39) I613M probably benign Het
Exoc3l A T 8: 106,017,181 (GRCm39) M602K Het
Fam107a C T 14: 8,301,352 (GRCm38) probably null Het
Frem3 A T 8: 81,339,777 (GRCm39) D690V probably damaging Het
Gm19410 A T 8: 36,239,022 (GRCm39) D97V probably damaging Het
Hint1 T A 11: 54,760,769 (GRCm39) D69E probably benign Het
Krt13 T C 11: 100,010,211 (GRCm39) T257A probably benign Het
Lpin2 T C 17: 71,549,749 (GRCm39) L676P probably damaging Het
Lrguk A G 6: 34,006,618 (GRCm39) E76G probably benign Het
Lrrc8a A G 2: 30,146,310 (GRCm39) M375V probably benign Het
Lrrtm3 T C 10: 63,925,017 (GRCm39) Q50R possibly damaging Het
Mmrn1 T A 6: 60,953,513 (GRCm39) L598Q probably damaging Het
Mrs2 A G 13: 25,185,767 (GRCm39) I135T probably damaging Het
Neb T C 2: 52,125,592 (GRCm39) D475G Het
Notch2 A G 3: 98,042,915 (GRCm39) S1427G possibly damaging Het
Odad4 G T 11: 100,457,752 (GRCm39) E452* probably null Het
Opcml T C 9: 28,813,447 (GRCm39) F246S probably damaging Het
Or10al2 C A 17: 37,983,302 (GRCm39) Y129* probably null Het
Or2ag1b A T 7: 106,288,296 (GRCm39) I214N probably damaging Het
Or56a42-ps1 A G 7: 104,775,893 (GRCm39) V195A probably benign Het
Or6c69 A G 10: 129,747,731 (GRCm39) C139R probably damaging Het
Or8g33 A C 9: 39,337,515 (GRCm39) V284G possibly damaging Het
Pdzd2 C A 15: 12,402,405 (GRCm39) V729F probably damaging Het
Pias2 C T 18: 77,234,464 (GRCm39) Q565* probably null Het
Pnp T A 14: 51,188,177 (GRCm39) probably null Het
Ptpn18 T C 1: 34,502,211 (GRCm39) S76P probably benign Het
Qtrt2 A T 16: 43,683,560 (GRCm39) L304Q probably damaging Het
Rad51ap2 A T 12: 11,507,401 (GRCm39) E441V possibly damaging Het
Ranbp2 T A 10: 58,313,711 (GRCm39) V1477E probably benign Het
Repin1 C T 6: 48,574,367 (GRCm39) T432I possibly damaging Het
Rest G A 5: 77,430,358 (GRCm39) G926R probably benign Het
Rnft1 T A 11: 86,377,516 (GRCm39) F143L possibly damaging Het
Sema3e A T 5: 14,282,108 (GRCm39) I415L probably benign Het
Slc10a1 T A 12: 81,014,369 (GRCm39) N117I probably damaging Het
Slc25a23 G A 17: 57,366,709 (GRCm39) probably benign Het
Slc2a2 T C 3: 28,767,951 (GRCm39) S160P possibly damaging Het
Srrd A G 5: 112,486,322 (GRCm39) V178A possibly damaging Het
Tmigd3 G T 3: 105,829,277 (GRCm39) G198C probably benign Het
Trbv28 G A 6: 41,248,339 (GRCm39) M1I probably null Het
Tril A G 6: 53,796,569 (GRCm39) S218P probably damaging Het
Trip11 T C 12: 101,828,857 (GRCm39) K1749R probably benign Het
Ttn A G 2: 76,660,995 (GRCm39) V12011A Het
Ubr4 T G 4: 139,137,829 (GRCm39) F1093V probably benign Het
Urb2 C A 8: 124,755,142 (GRCm39) A283E probably benign Het
Usp43 T A 11: 67,789,707 (GRCm39) probably benign Het
Vmn1r28 A T 6: 58,242,669 (GRCm39) I171F probably benign Het
Vps33a G A 5: 123,671,962 (GRCm39) R469W probably damaging Het
Zfp202 G A 9: 40,123,053 (GRCm39) R605Q probably damaging Het
Zpbp2 A T 11: 98,445,446 (GRCm39) H158L probably benign 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
IGL01941:Grik5 APN 7 24,764,607 (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
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
Predicted Primers PCR Primer
(F):5'- GCAGTGTTCAGCCAACAGAAG -3'
(R):5'- ACATGGTATGTCTCCCTGGG -3'

Sequencing Primer
(F):5'- TGTTCAGCCAACAGAAGAGGGAC -3'
(R):5'- AGTGGCTGTGACCTAGCACAG -3'
Posted On 2021-07-15