Incidental Mutation 'R7714:Grik2'
ID 594794
Institutional Source Beutler Lab
Gene Symbol Grik2
Ensembl Gene ENSMUSG00000056073
Gene Name glutamate receptor, ionotropic, kainate 2 (beta 2)
Synonyms Glur6, C130030K03Rik, Glurbeta2, Glur-6
MMRRC Submission 045772-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7714 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 48970929-49664862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 49295792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 392 (I392S)
Ref Sequence ENSEMBL: ENSMUSP00000101124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079751] [ENSMUST00000105484] [ENSMUST00000218441] [ENSMUST00000218598] [ENSMUST00000218669] [ENSMUST00000218823]
AlphaFold P39087
Predicted Effect possibly damaging
Transcript: ENSMUST00000079751
AA Change: I392S

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078687
Gene: ENSMUSG00000056073
AA Change: I392S

DomainStartEndE-ValueType
Pfam:Peripla_BP_6 44 386 1.8e-11 PFAM
Pfam:ANF_receptor 52 395 8.3e-75 PFAM
PBPe 432 801 5.6e-131 SMART
Lig_chan-Glu_bd 442 507 3.81e-34 SMART
Blast:PBPe 809 855 2e-12 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000105484
AA Change: I392S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101124
Gene: ENSMUSG00000056073
AA Change: I392S

DomainStartEndE-ValueType
Pfam:Peripla_BP_6 46 386 5e-11 PFAM
Pfam:ANF_receptor 52 395 9.7e-80 PFAM
PBPe 432 801 5.6e-131 SMART
Lig_chan-Glu_bd 442 507 3.81e-34 SMART
Blast:PBPe 809 855 1e-12 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000218441
AA Change: I392S

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218598
AA Change: I392S

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218669
AA Change: I105S

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000218823
AA Change: I392S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hippocampal neurons with reduced sensitivity to kainate and reduced susceptibility to the seizure-inducing effects of kainate administration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,167,587 (GRCm39) probably null Het
Agrn C A 4: 156,279,854 (GRCm39) D106Y probably damaging Het
Arfgap3 A T 15: 83,192,352 (GRCm39) Y416N probably benign Het
Atp6v0a2 C T 5: 124,775,533 (GRCm39) T135M probably damaging Het
Bach1 C A 16: 87,515,736 (GRCm39) Y92* probably null Het
Catsperg1 A C 7: 28,884,907 (GRCm39) C905G probably null Het
Cbr2 T C 11: 120,620,628 (GRCm39) I219V probably benign Het
Ccdc3 A T 2: 5,233,908 (GRCm39) K244I probably damaging Het
Cd226 T C 18: 89,265,433 (GRCm39) V237A probably damaging Het
Chek2 T C 5: 110,989,319 (GRCm39) C81R probably benign Het
Col27a1 T C 4: 63,242,723 (GRCm39) probably null Het
Cracdl T A 1: 37,663,858 (GRCm39) Q680L probably benign Het
Crybg3 A T 16: 59,379,236 (GRCm39) S673T probably benign Het
Csmd2 T A 4: 128,276,743 (GRCm39) Y848* probably null Het
Dgkb C A 12: 38,680,592 (GRCm39) T764K probably damaging Het
Dock4 T A 12: 40,775,648 (GRCm39) C530* probably null Het
Dpyd A G 3: 118,597,780 (GRCm39) K254R probably benign Het
Dstyk C T 1: 132,384,614 (GRCm39) P703S possibly damaging Het
Ehhadh A T 16: 21,585,140 (GRCm39) I247N probably damaging Het
Fer1l5 T G 1: 36,440,558 (GRCm39) L597R probably damaging Het
Fignl1 T C 11: 11,752,842 (GRCm39) E71G probably damaging Het
Fnip2 A C 3: 79,425,421 (GRCm39) V58G probably damaging Het
Gapdhs A T 7: 30,431,349 (GRCm39) I377N probably damaging Het
Gcn1 C T 5: 115,733,359 (GRCm39) A1059V probably damaging Het
Gpd1 G A 15: 99,619,967 (GRCm39) S255N probably damaging Het
Hoxb3 T C 11: 96,236,606 (GRCm39) L228P probably damaging Het
Iws1 A T 18: 32,223,568 (GRCm39) M659L probably benign Het
Kmt2c A G 5: 25,580,364 (GRCm39) C570R probably benign Het
Lamc3 T A 2: 31,812,279 (GRCm39) probably null Het
Lipf G A 19: 33,943,048 (GRCm39) G119R probably damaging Het
Lrrc37 T C 11: 103,507,719 (GRCm39) I1416M unknown Het
Magel2 A T 7: 62,028,130 (GRCm39) I345L probably benign Het
Mdn1 G A 4: 32,722,360 (GRCm39) A2381T possibly damaging Het
Med12l T C 3: 59,001,007 (GRCm39) V690A probably benign Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,427,071 (GRCm39) probably benign Het
Mob3b A G 4: 35,083,872 (GRCm39) Y106H probably damaging Het
Myo1c T C 11: 75,549,519 (GRCm39) Y166H probably damaging Het
Ndst4 A T 3: 125,364,493 (GRCm39) H390L probably benign Het
Nt5c1b T A 12: 10,425,472 (GRCm39) N280K probably damaging Het
Or10aa1 G A 1: 173,869,900 (GRCm39) R128H probably benign Het
Or5b116 A T 19: 13,423,252 (GRCm39) N292I probably damaging Het
Otof A G 5: 30,527,597 (GRCm39) F1947L probably damaging Het
Pabpc4 G A 4: 123,189,102 (GRCm39) A481T probably benign Het
Parm1 C T 5: 91,741,791 (GRCm39) T53I possibly damaging Het
Pilra C T 5: 137,833,679 (GRCm39) R129Q probably benign Het
Pkd1 C T 17: 24,769,250 (GRCm39) A5V unknown Het
Pmch T C 10: 87,927,242 (GRCm39) S82P probably benign Het
Prf1 G A 10: 61,135,934 (GRCm39) R70H possibly damaging Het
Rad51c T C 11: 87,292,276 (GRCm39) S180G probably benign Het
Rassf8 A C 6: 145,760,973 (GRCm39) T100P probably damaging Het
Rnpepl1 A G 1: 92,844,890 (GRCm39) E394G probably damaging Het
Rufy2 T A 10: 62,838,772 (GRCm39) V418E probably benign Het
Sdad1 A T 5: 92,450,538 (GRCm39) V199D probably damaging Het
Sptbn4 A T 7: 27,063,761 (GRCm39) S2227T probably benign Het
Tac4 A G 11: 95,156,116 (GRCm39) M66V probably benign Het
Tas2r126 T C 6: 42,412,031 (GRCm39) V188A probably benign Het
Tcerg1 T C 18: 42,694,000 (GRCm39) V707A possibly damaging Het
Tmem273 A G 14: 32,527,129 (GRCm39) E32G possibly damaging Het
Trav13d-4 G A 14: 53,995,355 (GRCm39) G103D probably damaging Het
Trav8d-1 A G 14: 53,016,380 (GRCm39) S89G probably benign Het
Ttll4 C T 1: 74,718,572 (GRCm39) S141L probably benign Het
Vash1 T C 12: 86,738,614 (GRCm39) S354P probably benign Het
Vmn2r40 T A 7: 8,911,116 (GRCm39) I726F Het
Vmn2r53 A C 7: 12,340,418 (GRCm39) N18K probably damaging Het
Wnt6 T C 1: 74,823,422 (GRCm39) F253S probably damaging Het
Zfp599 A G 9: 22,161,811 (GRCm39) I118T probably benign Het
Other mutations in Grik2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Grik2 APN 10 49,232,024 (GRCm39) missense possibly damaging 0.95
IGL00979:Grik2 APN 10 49,232,034 (GRCm39) missense probably damaging 1.00
IGL01012:Grik2 APN 10 49,149,052 (GRCm39) missense probably damaging 1.00
IGL01302:Grik2 APN 10 49,120,426 (GRCm39) missense probably damaging 0.99
IGL01657:Grik2 APN 10 49,404,082 (GRCm39) critical splice donor site probably null
IGL02162:Grik2 APN 10 49,298,671 (GRCm39) missense possibly damaging 0.77
IGL02317:Grik2 APN 10 49,298,711 (GRCm39) missense probably benign 0.16
IGL02512:Grik2 APN 10 49,232,008 (GRCm39) missense probably benign 0.00
IGL02650:Grik2 APN 10 48,977,331 (GRCm39) missense probably benign 0.03
IGL03283:Grik2 APN 10 49,454,365 (GRCm39) missense probably benign 0.00
BB004:Grik2 UTSW 10 49,116,890 (GRCm39) missense probably damaging 1.00
BB014:Grik2 UTSW 10 49,116,890 (GRCm39) missense probably damaging 1.00
R0325:Grik2 UTSW 10 49,116,821 (GRCm39) missense probably damaging 1.00
R0492:Grik2 UTSW 10 48,977,260 (GRCm39) missense probably damaging 0.99
R0601:Grik2 UTSW 10 49,298,693 (GRCm39) missense probably damaging 1.00
R0844:Grik2 UTSW 10 48,977,211 (GRCm39) missense possibly damaging 0.81
R1333:Grik2 UTSW 10 49,404,087 (GRCm39) missense probably damaging 0.98
R1499:Grik2 UTSW 10 49,008,871 (GRCm39) missense probably damaging 1.00
R1660:Grik2 UTSW 10 49,120,439 (GRCm39) nonsense probably null
R1721:Grik2 UTSW 10 49,399,842 (GRCm39) missense possibly damaging 0.93
R1966:Grik2 UTSW 10 49,232,005 (GRCm39) missense probably damaging 1.00
R1974:Grik2 UTSW 10 49,008,923 (GRCm39) missense possibly damaging 0.85
R2246:Grik2 UTSW 10 49,411,532 (GRCm39) missense probably damaging 1.00
R3103:Grik2 UTSW 10 49,116,868 (GRCm39) missense probably damaging 1.00
R3974:Grik2 UTSW 10 49,298,750 (GRCm39) missense probably damaging 1.00
R4592:Grik2 UTSW 10 49,298,711 (GRCm39) missense possibly damaging 0.48
R4658:Grik2 UTSW 10 49,399,888 (GRCm39) missense possibly damaging 0.71
R4748:Grik2 UTSW 10 49,411,437 (GRCm39) missense possibly damaging 0.87
R4935:Grik2 UTSW 10 49,116,826 (GRCm39) missense probably damaging 1.00
R4977:Grik2 UTSW 10 49,008,841 (GRCm39) missense probably damaging 1.00
R5103:Grik2 UTSW 10 49,372,205 (GRCm39) missense probably benign 0.33
R5330:Grik2 UTSW 10 49,008,867 (GRCm39) missense probably damaging 1.00
R5331:Grik2 UTSW 10 49,008,867 (GRCm39) missense probably damaging 1.00
R5736:Grik2 UTSW 10 49,280,506 (GRCm39) missense probably damaging 0.96
R5740:Grik2 UTSW 10 48,989,573 (GRCm39) missense probably damaging 0.99
R5747:Grik2 UTSW 10 49,399,870 (GRCm39) missense probably benign
R6015:Grik2 UTSW 10 49,399,959 (GRCm39) splice site probably null
R6311:Grik2 UTSW 10 49,454,234 (GRCm39) missense probably damaging 0.98
R6474:Grik2 UTSW 10 49,008,776 (GRCm39) missense probably benign
R6504:Grik2 UTSW 10 49,232,198 (GRCm39) missense probably damaging 1.00
R6591:Grik2 UTSW 10 49,149,021 (GRCm39) nonsense probably null
R6691:Grik2 UTSW 10 49,149,021 (GRCm39) nonsense probably null
R6776:Grik2 UTSW 10 49,232,085 (GRCm39) missense probably damaging 1.00
R7015:Grik2 UTSW 10 49,411,532 (GRCm39) missense probably damaging 1.00
R7094:Grik2 UTSW 10 49,232,012 (GRCm39) missense possibly damaging 0.75
R7153:Grik2 UTSW 10 49,411,463 (GRCm39) missense probably benign 0.00
R7229:Grik2 UTSW 10 48,977,512 (GRCm39) splice site probably null
R7402:Grik2 UTSW 10 49,411,493 (GRCm39) missense probably damaging 1.00
R7473:Grik2 UTSW 10 48,989,618 (GRCm39) missense probably benign 0.22
R7514:Grik2 UTSW 10 49,399,904 (GRCm39) missense probably damaging 0.99
R7526:Grik2 UTSW 10 49,399,918 (GRCm39) missense possibly damaging 0.56
R7657:Grik2 UTSW 10 49,659,247 (GRCm39) missense probably benign 0.11
R7681:Grik2 UTSW 10 49,120,476 (GRCm39) missense probably damaging 1.00
R7927:Grik2 UTSW 10 49,116,890 (GRCm39) missense probably damaging 1.00
R7952:Grik2 UTSW 10 49,298,633 (GRCm39) missense probably benign 0.15
R7979:Grik2 UTSW 10 49,280,438 (GRCm39) missense probably benign 0.01
R8062:Grik2 UTSW 10 49,116,863 (GRCm39) missense probably damaging 1.00
R8222:Grik2 UTSW 10 49,449,744 (GRCm39) missense probably benign 0.29
R8406:Grik2 UTSW 10 49,148,863 (GRCm39) missense probably damaging 1.00
R9017:Grik2 UTSW 10 48,989,555 (GRCm39) missense possibly damaging 0.94
R9557:Grik2 UTSW 10 49,404,105 (GRCm39) missense probably damaging 1.00
RF008:Grik2 UTSW 10 49,120,480 (GRCm39) missense probably damaging 1.00
X0062:Grik2 UTSW 10 49,149,016 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTTAGTCTTCAATCTTAGTTTTCAG -3'
(R):5'- GCTTTGTTTCCTAGTAATCATGGAAA -3'

Sequencing Primer
(F):5'- GGACTTGTGAAGATCATATGCCCC -3'
(R):5'- TGTTTTGTTCTCCAGGC -3'
Posted On 2019-11-12