Incidental Mutation 'R7402:Grik2'
ID 574278
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 045484-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7402 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 48970929-49664862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49411493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 215 (L215P)
Ref Sequence ENSEMBL: ENSMUSP00000101124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079751] [ENSMUST00000105484] [ENSMUST00000218441] [ENSMUST00000218598] [ENSMUST00000218669] [ENSMUST00000218823] [ENSMUST00000220263]
AlphaFold P39087
Predicted Effect probably damaging
Transcript: ENSMUST00000079751
AA Change: L215P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078687
Gene: ENSMUSG00000056073
AA Change: L215P

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: L215P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101124
Gene: ENSMUSG00000056073
AA Change: L215P

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 damaging
Transcript: ENSMUST00000218441
AA Change: L215P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218598
AA Change: L215P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218669
Predicted Effect probably damaging
Transcript: ENSMUST00000218823
AA Change: L215P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000220263
AA Change: L215P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G T 14: 118,943,487 (GRCm39) P12Q probably damaging Het
Acsf3 A G 8: 123,507,163 (GRCm39) Y152C probably damaging Het
Adam22 T A 5: 8,145,049 (GRCm39) Q803L possibly damaging Het
Adamtsl3 G A 7: 82,227,825 (GRCm39) V1337I probably damaging Het
Adra1b T C 11: 43,666,845 (GRCm39) D464G possibly damaging Het
Alpk3 T A 7: 80,726,660 (GRCm39) I115K probably benign Het
Amdhd2 A G 17: 24,380,657 (GRCm39) S96P Het
Ankib1 T G 5: 3,819,586 (GRCm39) D111A probably benign Het
Arhgef2 A G 3: 88,540,873 (GRCm39) D216G probably damaging Het
Astn1 A T 1: 158,380,425 (GRCm39) probably benign Het
Atosa C A 9: 74,913,668 (GRCm39) Y107* probably null Het
Atrn T A 2: 130,789,520 (GRCm39) W328R probably damaging Het
Atxn7 A T 14: 14,095,427 (GRCm38) H375L probably damaging Het
Btaf1 A T 19: 36,980,915 (GRCm39) N1579Y probably damaging Het
Cacna1b A T 2: 24,497,671 (GRCm39) L2079Q probably benign Het
Ccdc102a T C 8: 95,629,981 (GRCm39) K520R probably damaging Het
Cd2ap T C 17: 43,116,054 (GRCm39) H602R possibly damaging Het
Cdkn2aip A G 8: 48,164,408 (GRCm39) V435A possibly damaging Het
Cenpf A T 1: 189,391,575 (GRCm39) Y735* probably null Het
Cep350 T A 1: 155,803,961 (GRCm39) I1041L probably benign Het
Ckap4 A G 10: 84,363,863 (GRCm39) V400A probably damaging Het
Comp T A 8: 70,829,854 (GRCm39) D359E probably benign Het
Coq10b A C 1: 55,100,500 (GRCm39) K61N probably benign Het
Csmd2 G A 4: 128,215,889 (GRCm39) S548N Het
Csmd2 A C 4: 128,215,888 (GRCm39) S548R Het
Ctif A G 18: 75,744,807 (GRCm39) I99T probably benign Het
Ctns T G 11: 73,083,903 (GRCm39) T40P possibly damaging Het
Cyp11b1 C T 15: 74,712,674 (GRCm39) R129H probably damaging Het
Cyp2c68 A T 19: 39,729,318 (GRCm39) N56K probably benign Het
D6Wsu163e A G 6: 126,938,968 (GRCm39) K401R probably damaging Het
Dstn T A 2: 143,780,368 (GRCm39) C23S probably benign Het
Fam72a A T 1: 131,466,613 (GRCm39) E132D probably damaging Het
Fam72a G T 1: 131,466,614 (GRCm39) E133* probably null Het
Gbp8 T A 5: 105,179,161 (GRCm39) I113F probably damaging Het
Gm3095 A T 14: 15,170,332 (GRCm39) R60S possibly damaging Het
Gpa33 A T 1: 165,980,263 (GRCm39) M109L probably damaging Het
Gucy2g A C 19: 55,194,725 (GRCm39) F897L probably damaging Het
Hinfp A G 9: 44,209,314 (GRCm39) L295P probably damaging Het
Ift122 T C 6: 115,871,283 (GRCm39) V526A probably benign Het
Ighv5-12 T C 12: 113,665,853 (GRCm39) T82A probably benign Het
Il18rap T A 1: 40,564,111 (GRCm39) S76R probably benign Het
Itga6 A T 2: 71,683,897 (GRCm39) N1045I probably benign Het
Kctd21 A T 7: 96,996,970 (GRCm39) I148F possibly damaging Het
Kif28 T A 1: 179,567,644 (GRCm39) H42L probably benign Het
Kmt2c A C 5: 25,600,418 (GRCm39) C326W probably damaging Het
Knl1 T A 2: 118,925,707 (GRCm39) L1912* probably null Het
Lrfn1 A T 7: 28,158,947 (GRCm39) I289F probably damaging Het
Lrriq1 T C 10: 103,057,185 (GRCm39) K205R possibly damaging Het
Mbd5 A T 2: 49,147,566 (GRCm39) N592I probably damaging Het
Mbl2 A G 19: 30,216,802 (GRCm39) N205D possibly damaging Het
Mcm4 C A 16: 15,455,042 (GRCm39) M1I probably null Het
Mgat4a T A 1: 37,493,865 (GRCm39) H327L probably damaging Het
Miox A G 15: 89,219,206 (GRCm39) D16G probably benign Het
Mvk C A 5: 114,594,039 (GRCm39) P298Q possibly damaging Het
Nol6 A G 4: 41,118,699 (GRCm39) L726P probably damaging Het
Nos1 T C 5: 118,087,880 (GRCm39) I1381T probably benign Het
Nup98 A T 7: 101,784,144 (GRCm39) S1063T probably benign Het
Obscn T G 11: 58,886,275 (GRCm39) M7862L unknown Het
Obsl1 T C 1: 75,464,348 (GRCm39) T1653A probably benign Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or4c105 G T 2: 88,647,687 (GRCm39) M57I probably damaging Het
Or8g53 T A 9: 39,683,260 (GRCm39) T279S probably benign Het
Or8u9 A G 2: 86,001,546 (GRCm39) I205T probably benign Het
Or9q2 C T 19: 13,772,358 (GRCm39) V206I probably damaging Het
Pcdhb20 A G 18: 37,638,005 (GRCm39) Y177C probably benign Het
Pcdhb3 A C 18: 37,434,657 (GRCm39) I208L probably benign Het
Phlpp1 G T 1: 106,317,420 (GRCm39) G1214W probably damaging Het
Ppp4r3a A T 12: 101,025,053 (GRCm39) S149T possibly damaging Het
Pxdn T C 12: 30,052,438 (GRCm39) C872R probably damaging Het
Rarb A G 14: 16,548,419 (GRCm38) C101R probably damaging Het
Rcor3 A C 1: 191,812,283 (GRCm39) V114G probably benign Het
Rnpepl1 A G 1: 92,847,372 (GRCm39) Q653R probably benign Het
Rpap2 T A 5: 107,768,324 (GRCm39) Y387* probably null Het
Rttn C T 18: 89,004,035 (GRCm39) T343M possibly damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Six5 T C 7: 18,828,968 (GRCm39) L136P probably damaging Het
Slc12a5 T A 2: 164,824,852 (GRCm39) M419K probably benign Het
Slc22a21 T C 11: 53,851,226 (GRCm39) M179V probably benign Het
Slc35a4 A G 18: 36,813,570 (GRCm39) D6G unknown Het
Spdye4c A T 2: 128,434,261 (GRCm39) M1L probably benign Het
Svep1 A T 4: 58,069,699 (GRCm39) C2696S possibly damaging Het
Tceanc2 T C 4: 107,004,893 (GRCm39) N85S probably benign Het
Teddm2 G C 1: 153,726,344 (GRCm39) L124V probably benign Het
Teddm2 A T 1: 153,726,343 (GRCm39) L124Q probably damaging Het
Tgfbr1 T A 4: 47,405,623 (GRCm39) W409R probably damaging Het
Tkt A G 14: 30,280,755 (GRCm39) D62G probably damaging Het
Tnrc6b T A 15: 80,768,501 (GRCm39) V1054D probably damaging Het
Trpm7 C A 2: 126,641,126 (GRCm39) L1564F probably damaging Het
Vmn1r43 A T 6: 89,846,803 (GRCm39) C228S probably benign Het
Vmn2r106 T C 17: 20,487,883 (GRCm39) R839G probably damaging Het
Vmn2r5 G A 3: 64,403,176 (GRCm39) T523I probably benign Het
Vwa3b C T 1: 37,153,678 (GRCm39) Q507* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfp281 T G 1: 136,553,190 (GRCm39) L56R probably damaging Het
Zfp407 G A 18: 84,579,661 (GRCm39) T484I probably benign Het
Zfp451 T C 1: 33,852,843 (GRCm39) T24A probably benign Het
Zfp607b T A 7: 27,392,919 (GRCm39) F16I probably damaging Het
Zfp638 T A 6: 83,905,670 (GRCm39) V41E possibly damaging 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
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'- CCCTCATCCTAAATCTTGTTAAAGACC -3'
(R):5'- GGCACTAAGTACCTAGATGTGAC -3'

Sequencing Primer
(F):5'- CAAATTTACTGAAAGCAATTGTCAGC -3'
(R):5'- TCACACATCATACTTACATTTCACG -3'
Posted On 2019-09-13