Incidental Mutation 'R0325:Grik2'
ID 25747
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 038535-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0325 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 48970929-49664862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49116821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 86 (I86V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079751] [ENSMUST00000105484] [ENSMUST00000218598] [ENSMUST00000218823] [ENSMUST00000218441]
AlphaFold P39087
Predicted Effect probably benign
Transcript: ENSMUST00000079751
AA Change: I647V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000078687
Gene: ENSMUSG00000056073
AA Change: I647V

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 benign
Transcript: ENSMUST00000105484
AA Change: I647V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101124
Gene: ENSMUSG00000056073
AA Change: I647V

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 probably benign
Transcript: ENSMUST00000105485
AA Change: I647V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101125
Gene: ENSMUSG00000056073
AA Change: I647V

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 benign
Transcript: ENSMUST00000105486
AA Change: I647V

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101126
Gene: ENSMUSG00000056073
AA Change: I647V

DomainStartEndE-ValueType
Pfam:Peripla_BP_6 44 386 3.8e-11 PFAM
Pfam:ANF_receptor 52 395 1.5e-74 PFAM
PBPe 432 801 5.6e-131 SMART
Lig_chan-Glu_bd 442 507 3.81e-34 SMART
Blast:PBPe 809 855 6e-13 BLAST
low complexity region 875 891 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105487
AA Change: I647V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101127
Gene: ENSMUSG00000056073
AA Change: I647V

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 noncoding transcript
Transcript: ENSMUST00000147808
Predicted Effect probably benign
Transcript: ENSMUST00000218598
AA Change: I647V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000218823
AA Change: I647V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably damaging
Transcript: ENSMUST00000219509
AA Change: I86V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000218441
AA Change: I647V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217673
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.0%
Validation Efficiency
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T C 4: 144,282,081 (GRCm39) Y237C probably damaging Het
Adcyap1 A G 17: 93,510,260 (GRCm39) D96G probably benign Het
Adgrv1 C T 13: 81,688,134 (GRCm39) V1749M probably damaging Het
Adnp2 A T 18: 80,173,868 (GRCm39) N180K probably benign Het
Ahdc1 G T 4: 132,790,030 (GRCm39) A424S unknown Het
Alpk3 G A 7: 80,717,701 (GRCm39) R86H possibly damaging Het
Atf7ip A C 6: 136,537,987 (GRCm39) T49P possibly damaging Het
Atp7b G A 8: 22,518,467 (GRCm39) L124F probably benign Het
Bub1 A T 2: 127,643,314 (GRCm39) L1010* probably null Het
Cd300c C A 11: 114,850,411 (GRCm39) E131* probably null Het
Cep135 A G 5: 76,763,590 (GRCm39) K527E probably damaging Het
Cfd G T 10: 79,727,592 (GRCm39) E89* probably null Het
Crb1 A C 1: 139,168,904 (GRCm39) C871W probably damaging Het
D6Ertd527e A T 6: 87,088,277 (GRCm39) S147C unknown Het
Ddx60 A T 8: 62,436,889 (GRCm39) E946D probably benign Het
Dmrt1 G A 19: 25,523,371 (GRCm39) E241K probably benign Het
Dnah11 C G 12: 117,976,074 (GRCm39) V2782L probably benign Het
Dzip1 T C 14: 119,146,969 (GRCm39) I313M probably damaging Het
Egln3 T C 12: 54,250,298 (GRCm39) E17G probably benign Het
Eif3d A G 15: 77,852,420 (GRCm39) V42A probably damaging Het
Elapor1 A G 3: 108,368,567 (GRCm39) L808P probably damaging Het
Eogt C A 6: 97,090,916 (GRCm39) G408W probably damaging Het
Fip1l1 T A 5: 74,756,503 (GRCm39) N498K probably damaging Het
Fmn2 T A 1: 174,437,520 (GRCm39) probably null Het
Fndc3b T C 3: 27,521,579 (GRCm39) E532G probably damaging Het
Gabrb3 T C 7: 57,415,278 (GRCm39) L116P probably damaging Het
Galnt6 A T 15: 100,591,352 (GRCm39) probably null Het
Glmp G A 3: 88,232,391 (GRCm39) M1I probably null Het
Gm5478 T C 15: 101,552,761 (GRCm39) D79G probably damaging Het
Gnb1 T G 4: 155,636,140 (GRCm39) D153E probably benign Het
Hdac3 C T 18: 38,074,005 (GRCm39) probably null Het
Hdgfl2 G A 17: 56,406,181 (GRCm39) R523H possibly damaging Het
Ifngr1 T A 10: 19,473,180 (GRCm39) N43K probably damaging Het
Iqgap1 A G 7: 80,401,678 (GRCm39) W476R probably benign Het
Jag1 A G 2: 136,937,365 (GRCm39) probably null Het
Kars1 T C 8: 112,734,848 (GRCm39) D46G probably benign Het
Kcnd2 A G 6: 21,216,682 (GRCm39) I129V probably damaging Het
Lama3 A C 18: 12,615,183 (GRCm39) D1369A probably damaging Het
Lars1 A T 18: 42,383,967 (GRCm39) V76E possibly damaging Het
Lgals9 T C 11: 78,854,274 (GRCm39) I337V probably damaging Het
Lrp1b T C 2: 40,741,723 (GRCm39) D3068G probably damaging Het
Med12l A G 3: 58,984,480 (GRCm39) T462A possibly damaging Het
Megf9 T A 4: 70,374,178 (GRCm39) D286V probably damaging Het
Meox1 T A 11: 101,770,227 (GRCm39) S167C probably damaging Het
Mier2 C T 10: 79,378,430 (GRCm39) probably null Het
Mrps2 C A 2: 28,359,791 (GRCm39) T216K probably damaging Het
Mto1 A T 9: 78,360,286 (GRCm39) D258V probably damaging Het
Mug1 A T 6: 121,826,801 (GRCm39) H208L probably benign Het
Myo15b T A 11: 115,775,091 (GRCm39) I751N probably damaging Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ndrg4 T A 8: 96,437,563 (GRCm39) M17K probably damaging Het
Nfrkb T G 9: 31,325,476 (GRCm39) M973R probably benign Het
Nxph4 C T 10: 127,362,780 (GRCm39) R37H probably damaging Het
Oas1e A G 5: 120,933,460 (GRCm39) I35T probably damaging Het
Oc90 C T 15: 65,769,514 (GRCm39) probably null Het
Or4b12 A T 2: 90,095,880 (GRCm39) M298K probably null Het
Or52d3 A T 7: 104,229,567 (GRCm39) D238V probably damaging Het
Or8j3 G A 2: 86,029,055 (GRCm39) L14F possibly damaging Het
Or8k30 A T 2: 86,339,549 (GRCm39) T249S probably benign Het
Or9a7 A T 6: 40,521,057 (GRCm39) N285K possibly damaging Het
Papola T A 12: 105,773,452 (GRCm39) I157N probably damaging Het
Pcyox1l G C 18: 61,830,964 (GRCm39) P303A possibly damaging Het
Pkdrej T C 15: 85,703,752 (GRCm39) N728S probably benign Het
Pkp4 A G 2: 59,148,873 (GRCm39) D542G probably damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Poln C T 5: 34,307,108 (GRCm39) R31H probably benign Het
Ppp3ca G A 3: 136,640,900 (GRCm39) A484T probably benign Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Pramel28 A T 4: 143,693,310 (GRCm39) V56E probably damaging Het
Prex2 G A 1: 11,270,281 (GRCm39) probably null Het
Prrc2b G T 2: 32,089,103 (GRCm39) W403L probably damaging Het
Pter A T 2: 13,005,748 (GRCm39) K307M probably damaging Het
Ptpn5 G A 7: 46,740,506 (GRCm39) S99L probably benign Het
Ptpn5 A C 7: 46,740,507 (GRCm39) S99A probably benign Het
Rpap1 A C 2: 119,602,321 (GRCm39) H674Q probably benign Het
Rph3a A T 5: 121,081,127 (GRCm39) D623E probably benign Het
Sdr9c7 G T 10: 127,734,588 (GRCm39) E25D probably benign Het
Septin9 T G 11: 117,247,458 (GRCm39) V479G probably damaging Het
Sgo2a A G 1: 58,055,856 (GRCm39) D680G probably benign Het
Sgo2b A T 8: 64,381,410 (GRCm39) I474N probably benign Het
Sgsm1 A T 5: 113,436,701 (GRCm39) I43N probably damaging Het
Shprh G A 10: 11,045,853 (GRCm39) M891I probably benign Het
Skic2 A T 17: 35,063,791 (GRCm39) Y551N possibly damaging Het
Slc12a9 A G 5: 137,321,108 (GRCm39) M469T probably damaging Het
Slc4a2 A T 5: 24,640,941 (GRCm39) I747F probably damaging Het
Slc7a6 T A 8: 106,921,149 (GRCm39) N373K probably damaging Het
Slc7a6os T C 8: 106,927,688 (GRCm39) D296G probably benign Het
Sncaip A G 18: 53,038,881 (GRCm39) T120A probably damaging Het
Sorcs1 G C 19: 50,301,480 (GRCm39) probably null Het
Spata16 A G 3: 26,721,605 (GRCm39) E42G probably damaging Het
Spata31e2 G T 1: 26,724,347 (GRCm39) Q278K possibly damaging Het
Syne2 A T 12: 76,009,415 (GRCm39) M2440L probably benign Het
Taf7l2 T C 10: 115,949,474 (GRCm39) I17M probably damaging Het
Tead2 A G 7: 44,875,179 (GRCm39) E232G probably damaging Het
Tmf1 T G 6: 97,153,465 (GRCm39) T203P possibly damaging Het
Trrap C A 5: 144,753,205 (GRCm39) H1843Q probably benign Het
Unc79 C A 12: 103,137,903 (GRCm39) Q2314K probably damaging Het
Unc80 G T 1: 66,550,040 (GRCm39) G766V probably damaging Het
Vmn1r217 A G 13: 23,298,764 (GRCm39) L46P probably damaging Het
Vmn2r80 A T 10: 78,984,773 (GRCm39) I42F possibly damaging Het
Vwa5a T C 9: 38,639,961 (GRCm39) V403A probably damaging Het
Zfp42 T C 8: 43,748,988 (GRCm39) E171G probably damaging Het
Zfp64 A T 2: 168,767,960 (GRCm39) S551T 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
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
R7714:Grik2 UTSW 10 49,295,792 (GRCm39) missense probably damaging 0.97
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'- GGTTTCAGTGGCAAGTAAGGCTTACC -3'
(R):5'- GCAGTATAACTGGCCTCTGCTCTTC -3'

Sequencing Primer
(F):5'- CCTTGAAAAACGTCATGGTTGC -3'
(R):5'- GCTGAAGCAGTGTGTCAATC -3'
Posted On 2013-04-16