Incidental Mutation 'R5113:Grik5'
ID 394017
Institutional Source Beutler Lab
Gene Symbol Grik5
Ensembl Gene ENSMUSG00000003378
Gene Name glutamate receptor, ionotropic, kainate 5 (gamma 2)
Synonyms KA2, GluRgamma2
MMRRC Submission 042701-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R5113 (G1)
Quality Score 197
Status Not validated
Chromosome 7
Chromosomal Location 24709274-24771771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24714952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 681 (S681P)
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: S681P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: S681P

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,206,821 (GRCm39) V622A possibly damaging Het
Ankef1 A G 2: 136,394,361 (GRCm39) N590S probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano3 A T 2: 110,491,825 (GRCm39) N867K possibly damaging Het
Ash1l T C 3: 88,973,582 (GRCm39) V2547A probably damaging Het
Chil5 A T 3: 105,925,294 (GRCm39) V209E possibly damaging Het
Cltc A T 11: 86,613,147 (GRCm39) C459S probably damaging Het
Col6a4 T A 9: 105,944,159 (GRCm39) D1105V possibly damaging Het
Cyp2c66 A G 19: 39,151,882 (GRCm39) D199G probably benign Het
Cyp4f18 A G 8: 72,742,902 (GRCm39) probably null Het
Cysrt1 A T 2: 25,129,363 (GRCm39) C50S possibly damaging Het
Dapk1 A G 13: 60,869,592 (GRCm39) K278R probably benign Het
Eefsec C A 6: 88,258,557 (GRCm39) S512I probably damaging Het
Emilin1 T C 5: 31,077,964 (GRCm39) F908L possibly damaging Het
Eml1 T C 12: 108,503,596 (GRCm39) V731A possibly damaging Het
Erc2 T C 14: 27,374,829 (GRCm39) S16P probably benign Het
Gfpt2 A G 11: 49,714,626 (GRCm39) R342G probably damaging Het
Gpr142 A T 11: 114,695,143 (GRCm39) Q36L probably benign Het
Hecw1 A T 13: 14,520,614 (GRCm39) S208T possibly damaging Het
Hmgcr G A 13: 96,793,240 (GRCm39) A464V probably benign Het
Igkv2-109 A G 6: 68,280,069 (GRCm39) T97A possibly damaging Het
Ino80 G T 2: 119,262,426 (GRCm39) Q687K probably damaging Het
Kdm4d T C 9: 14,375,409 (GRCm39) N150D probably damaging Het
Klf4 A G 4: 55,530,481 (GRCm39) I210T possibly damaging Het
Klkb1 C A 8: 45,723,734 (GRCm39) Q560H probably benign Het
Lce1a2 A T 3: 92,576,442 (GRCm39) V40E unknown Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mipol1 C T 12: 57,543,285 (GRCm39) T393I probably benign Het
Mst1 A G 9: 107,959,446 (GRCm39) D244G probably damaging Het
Nexn G A 3: 151,949,525 (GRCm39) R258C probably damaging Het
Optc T C 1: 133,828,715 (GRCm39) probably benign Het
Or10d5 T C 9: 39,861,221 (GRCm39) N282S probably damaging Het
Or11h23 A C 14: 50,948,371 (GRCm39) I195L probably benign Het
Or6c207 A G 10: 129,104,535 (GRCm39) I219T probably damaging Het
Or7a37 A G 10: 78,806,037 (GRCm39) I185V probably benign Het
Pabpc2 C A 18: 39,908,436 (GRCm39) P567Q probably benign Het
Pierce2 T A 9: 72,887,175 (GRCm39) R111* probably null Het
Ppm1j A G 3: 104,691,990 (GRCm39) H324R possibly damaging Het
Reg3g A T 6: 78,443,544 (GRCm39) probably null Het
Sipa1l1 C T 12: 82,487,682 (GRCm39) A1652V probably benign Het
Ski T C 4: 155,243,849 (GRCm39) T554A probably benign Het
Slfn5 G A 11: 82,852,522 (GRCm39) V883M probably benign Het
Stradb T C 1: 59,030,333 (GRCm39) probably benign Het
Tex19.1 A G 11: 121,038,625 (GRCm39) T328A probably benign Het
Tpsab1 T C 17: 25,564,373 (GRCm39) N27S possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttn A T 2: 76,643,244 (GRCm39) L13225Q probably damaging Het
Vmn1r28 A G 6: 58,242,843 (GRCm39) T229A probably benign Het
Wapl A G 14: 34,446,711 (GRCm39) K600E probably damaging Het
Zfp217 T C 2: 169,955,978 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGAGGTTGCAATTGAGGCGC -3'
(R):5'- AGTAGACATCCTTGACCTGTCC -3'

Sequencing Primer
(F):5'- CAATTGAGGCGCCTGTGGTAC -3'
(R):5'- CCTGGTGAATGGGATCCAATGC -3'
Posted On 2016-06-15