Incidental Mutation 'R1974:Grik2'
ID 221443
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 039987-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1974 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 48970929-49664862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49008923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 721 (N721K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079751] [ENSMUST00000105484] [ENSMUST00000218441] [ENSMUST00000218598] [ENSMUST00000218823]
AlphaFold P39087
Predicted Effect possibly damaging
Transcript: ENSMUST00000079751
AA Change: N721K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078687
Gene: ENSMUSG00000056073
AA Change: N721K

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 possibly damaging
Transcript: ENSMUST00000105484
AA Change: N721K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101124
Gene: ENSMUSG00000056073
AA Change: N721K

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: ENSMUST00000105485
AA Change: N721K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101125
Gene: ENSMUSG00000056073
AA Change: N721K

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 possibly damaging
Transcript: ENSMUST00000105486
AA Change: N721K

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101126
Gene: ENSMUSG00000056073
AA Change: N721K

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 possibly damaging
Transcript: ENSMUST00000105487
AA Change: N721K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101127
Gene: ENSMUSG00000056073
AA Change: N721K

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 noncoding transcript
Transcript: ENSMUST00000217673
Predicted Effect possibly damaging
Transcript: ENSMUST00000218441
AA Change: N721K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect unknown
Transcript: ENSMUST00000219509
AA Change: N160K
Predicted Effect possibly damaging
Transcript: ENSMUST00000218598
AA Change: N721K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218823
AA Change: N721K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,028 (GRCm39) L739Q probably damaging Het
4933436I01Rik A T X: 66,963,655 (GRCm39) Y401* probably null Het
Abcg3 A G 5: 105,111,504 (GRCm39) V321A probably benign Het
Acad10 C A 5: 121,764,248 (GRCm39) V894L possibly damaging Het
Adam9 A G 8: 25,482,240 (GRCm39) I255T probably damaging Het
Ago3 T C 4: 126,240,544 (GRCm39) Y785C probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Akap4 A G X: 6,943,595 (GRCm39) S633G probably benign Het
Alox15 T A 11: 70,240,799 (GRCm39) T194S probably benign Het
Amh T C 10: 80,642,250 (GRCm39) S207P probably benign Het
Apc T A 18: 34,433,057 (GRCm39) C415S possibly damaging Het
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Atp5mf A T 5: 145,121,389 (GRCm39) L64Q probably damaging Het
Barhl2 C G 5: 106,605,179 (GRCm39) E177Q probably benign Het
C1qtnf5 T C 9: 44,020,072 (GRCm39) V232A probably damaging Het
Calr T C 8: 85,570,786 (GRCm39) I290V probably benign Het
Cdh19 G C 1: 110,817,889 (GRCm39) Q618E possibly damaging Het
Celsr2 G T 3: 108,321,530 (GRCm39) D427E probably damaging Het
Cep250 T C 2: 155,831,424 (GRCm39) S1294P probably damaging Het
Chrna7 T A 7: 62,749,034 (GRCm39) T483S probably damaging Het
Clmn A T 12: 104,758,121 (GRCm39) W132R probably damaging Het
Cpsf2 G A 12: 101,956,306 (GRCm39) D370N probably benign Het
Crnn T C 3: 93,056,594 (GRCm39) V460A probably benign Het
Daam1 T A 12: 72,035,703 (GRCm39) I957N probably damaging Het
Defb9 T C 8: 22,371,905 (GRCm39) K36R probably benign Het
Dock10 T A 1: 80,488,143 (GRCm39) I2007F possibly damaging Het
Dpm1 A T 2: 168,059,667 (GRCm39) V143D probably damaging Het
Dync1h1 T C 12: 110,592,166 (GRCm39) V1110A possibly damaging Het
Erlec1 T G 11: 30,889,604 (GRCm39) K373N possibly damaging Het
Fbxo40 C T 16: 36,790,303 (GRCm39) G269E probably benign Het
Fbxw7 T A 3: 84,862,242 (GRCm39) C70S possibly damaging Het
Fhip2a T C 19: 57,373,809 (GRCm39) F690L probably damaging Het
Fnbp1 G T 2: 30,943,059 (GRCm39) R280S probably null Het
Gapvd1 G A 2: 34,590,853 (GRCm39) R940C probably damaging Het
Gfod2 T C 8: 106,444,142 (GRCm39) K134E possibly damaging Het
Gpi1 A T 7: 33,920,228 (GRCm39) probably null Het
Gsn G T 2: 35,191,483 (GRCm39) G455V probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hpse A G 5: 100,840,104 (GRCm39) S338P probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Inf2 A G 12: 112,574,771 (GRCm39) T781A unknown Het
Iscu A G 5: 113,915,079 (GRCm39) probably benign Het
Kcna4 G A 2: 107,126,565 (GRCm39) G433D possibly damaging Het
Kir3dl2 T A X: 135,357,024 (GRCm39) N146I probably benign Het
Klrg1 T A 6: 122,259,721 (GRCm39) Q17L possibly damaging Het
Krt82 T G 15: 101,453,597 (GRCm39) Q263P probably benign Het
Mfrp T C 9: 44,017,669 (GRCm39) C554R probably damaging Het
Minar1 T G 9: 89,483,256 (GRCm39) T714P probably damaging Het
Mst1r T C 9: 107,791,962 (GRCm39) Y833H probably damaging Het
Mst1r T A 9: 107,793,132 (GRCm39) probably null Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nipal4 T C 11: 46,042,210 (GRCm39) N157S probably damaging Het
Notch2 G A 3: 97,980,071 (GRCm39) G195D probably damaging Het
Nrcam A T 12: 44,610,776 (GRCm39) H492L probably benign Het
Or10aa1 A T 1: 173,870,154 (GRCm39) I213F probably damaging Het
Or4p21 A T 2: 88,276,853 (GRCm39) I143N probably damaging Het
Papln G A 12: 83,828,811 (GRCm39) R817H probably damaging Het
Pcnx2 T C 8: 126,614,110 (GRCm39) E447G probably benign Het
Pdp2 T C 8: 105,320,538 (GRCm39) V129A probably benign Het
Plch2 A G 4: 155,069,410 (GRCm39) F1072S possibly damaging Het
Prag1 T A 8: 36,570,081 (GRCm39) D221E probably damaging Het
Prkg1 T C 19: 31,563,095 (GRCm39) D102G probably damaging Het
Psme4 T A 11: 30,769,011 (GRCm39) D662E probably benign Het
Ptprn T C 1: 75,231,464 (GRCm39) probably null Het
Ptprz1 A G 6: 22,986,310 (GRCm39) D370G probably damaging Het
Qser1 A G 2: 104,590,886 (GRCm39) S1637P probably damaging Het
Sema6a T A 18: 47,403,696 (GRCm39) H642L probably benign Het
Slc30a5 A T 13: 100,950,461 (GRCm39) F209I probably benign Het
Slc4a3 G T 1: 75,528,835 (GRCm39) E508* probably null Het
Stpg2 C T 3: 139,014,944 (GRCm39) R370* probably null Het
Tas2r113 T A 6: 132,870,796 (GRCm39) F275I probably benign Het
Tmem132d T G 5: 128,346,263 (GRCm39) K86N probably damaging Het
Tpgs2 A T 18: 25,273,593 (GRCm39) F189L probably damaging Het
Trmt6 A G 2: 132,652,968 (GRCm39) S104P probably damaging Het
Trpv3 T C 11: 73,174,514 (GRCm39) S294P probably damaging Het
Ugt2b36 A G 5: 87,228,727 (GRCm39) probably null Het
Vmn1r170 A T 7: 23,305,906 (GRCm39) M103L probably benign Het
Vmn2r107 T A 17: 20,575,879 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A 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
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'- TGTGAACTATGTATAGTCCCTGC -3'
(R):5'- TAGCATGAGAAGACTAAGTGCAGTC -3'

Sequencing Primer
(F):5'- GAACTATGTATAGTCCCTGCTTTCC -3'
(R):5'- AGTGCAGTCTATTGTGTCTAAATG -3'
Posted On 2014-08-25