Incidental Mutation 'R5186:Grik5'
ID 397884
Institutional Source Beutler Lab
Gene Symbol Grik5
Ensembl Gene ENSMUSG00000003378
Gene Name glutamate receptor, ionotropic, kainate 5 (gamma 2)
Synonyms KA2, GluRgamma2
MMRRC Submission 042765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R5186 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 24709274-24771771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24715244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 676 (T676A)
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: T676A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: T676A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,982,425 (GRCm39) I6V probably null Het
Aox1 A G 1: 58,107,529 (GRCm39) D601G probably damaging Het
Asic1 GCACC GCACCACC 15: 99,596,684 (GRCm39) probably benign Het
Cacna1g T G 11: 94,333,674 (GRCm39) N931T probably damaging Het
Ccdc14 T C 16: 34,541,955 (GRCm39) F511L probably damaging Het
Cd177 T A 7: 24,444,348 (GRCm39) E710V probably benign Het
Cep112 T C 11: 108,643,386 (GRCm39) C49R probably benign Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Dnah2 T C 11: 69,326,710 (GRCm39) N3575S probably damaging Het
Dnah6 T A 6: 73,044,410 (GRCm39) I3234F probably damaging Het
Eci3 G T 13: 35,130,961 (GRCm39) A302E possibly damaging Het
Fam204a T C 19: 60,188,421 (GRCm39) K214E probably damaging Het
Fam78a T C 2: 31,972,666 (GRCm39) T85A possibly damaging Het
Flnb T C 14: 7,909,748 (GRCm38) Y1401H probably damaging Het
Foxl2 A T 9: 98,838,108 (GRCm39) D132V probably damaging Het
Frs2 C A 10: 116,914,747 (GRCm39) W57C probably damaging Het
Gm26558 G T 2: 70,491,761 (GRCm39) probably benign Het
Gpr139 A G 7: 118,744,063 (GRCm39) V174A probably benign Het
H60c T C 10: 3,209,273 (GRCm39) probably null Het
Hspa1l A G 17: 35,197,445 (GRCm39) K495E probably damaging Het
Irgm1 C T 11: 48,757,044 (GRCm39) V256I probably benign Het
Kat7 T A 11: 95,177,242 (GRCm39) T293S probably benign Het
Lipg C T 18: 75,094,009 (GRCm39) V13I probably benign Het
Lrrn1 A T 6: 107,546,185 (GRCm39) Y661F probably damaging Het
Mllt3 A G 4: 87,759,232 (GRCm39) V272A probably benign Het
Mx1 G A 16: 97,256,694 (GRCm39) R162C probably benign Het
Myo18b T A 5: 113,019,336 (GRCm39) D647V probably damaging Het
Naf1 G A 8: 67,332,298 (GRCm39) V329I probably benign Het
Or4k40 A T 2: 111,251,119 (GRCm39) M59K probably damaging Het
Or52u1 A T 7: 104,237,418 (GRCm39) I153F probably damaging Het
Or8g22 A T 9: 38,958,265 (GRCm39) C194* probably null Het
P2rx5 G A 11: 73,062,616 (GRCm39) V442M possibly damaging Het
Pcdhb9 A G 18: 37,534,285 (GRCm39) E93G probably damaging Het
Pcdhga4 A T 18: 37,820,479 (GRCm39) N676I probably benign Het
Pgm5 A G 19: 24,797,492 (GRCm39) M230T probably damaging Het
Pik3c2g T C 6: 139,599,016 (GRCm39) V44A probably damaging Het
Pp2d1 T C 17: 53,815,168 (GRCm39) M519V probably benign Het
Ppp1r10 A G 17: 36,239,403 (GRCm39) E404G probably damaging Het
Prpf8 A T 11: 75,380,609 (GRCm39) E104V possibly damaging Het
Ptpra T C 2: 30,328,367 (GRCm39) probably null Het
Pygl A C 12: 70,248,118 (GRCm39) N248K probably damaging Het
Rbm8a A G 3: 96,538,248 (GRCm39) D102G probably damaging Het
Sema3d A G 5: 12,634,875 (GRCm39) D647G probably benign Het
Serpinb11 A T 1: 107,307,484 (GRCm39) D305V probably damaging Het
Slc12a8 T C 16: 33,437,578 (GRCm39) I337T probably damaging Het
Slc29a2 G A 19: 5,078,995 (GRCm39) R286Q probably benign Het
Slc2a3 T A 6: 122,712,542 (GRCm39) D234V probably damaging Het
Slco4a1 T C 2: 180,114,901 (GRCm39) V608A probably damaging Het
Spata31d1e A T 13: 59,891,553 (GRCm39) L89H probably damaging Het
Srrm2 C T 17: 24,035,561 (GRCm39) T831I probably benign Het
St18 T A 1: 6,872,541 (GRCm39) probably null Het
Tesk2 G C 4: 116,599,093 (GRCm39) G67A probably damaging Het
Tlr1 A T 5: 65,082,564 (GRCm39) L671H probably damaging Het
Tmem63b A T 17: 45,972,403 (GRCm39) Y735N possibly damaging Het
Tmprss11a C T 5: 86,567,938 (GRCm39) C263Y probably damaging Het
Trio A T 15: 27,898,077 (GRCm39) V345E probably damaging Het
Tut7 A G 13: 59,964,470 (GRCm39) probably null Het
Ubr5 A G 15: 37,998,160 (GRCm39) S1674P probably damaging Het
Uchl3 T A 14: 101,933,353 (GRCm39) C209S probably damaging Het
Uhmk1 T C 1: 170,038,736 (GRCm39) N206S probably damaging Het
Uhrf1 C T 17: 56,625,340 (GRCm39) R588W probably damaging Het
Usp28 T C 9: 48,921,550 (GRCm39) V256A probably damaging Het
Utrn C A 10: 12,604,521 (GRCm39) L552F probably damaging Het
Vmn1r55 A T 7: 5,149,985 (GRCm39) M146K probably damaging Het
Vmn1r57 A C 7: 5,224,107 (GRCm39) I211L probably benign Het
Zar1 C T 5: 72,734,742 (GRCm39) C316Y probably damaging Het
Zc3h11a A T 1: 133,549,412 (GRCm39) S750T probably damaging Het
Zfp366 G A 13: 99,382,676 (GRCm39) C613Y probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp516 T C 18: 82,975,218 (GRCm39) V472A probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zic1 T C 9: 91,246,424 (GRCm39) Y216C 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
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
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'- CCTGATGACAACTCAATACTTCGC -3'
(R):5'- TCGGCAAGAGGCTCATACTTC -3'

Sequencing Primer
(F):5'- GATGACAACTCAATACTTCGCCCAAC -3'
(R):5'- GAGGCTCATACTTCCCACCC -3'
Posted On 2016-07-06