Incidental Mutation 'R1499:Grik2'
ID 168710
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 039550-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1499 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 48970929-49664862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 49008871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 739 (S739A)
Ref Sequence ENSEMBL: ENSMUSP00000151921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079751] [ENSMUST00000105484] [ENSMUST00000218441] [ENSMUST00000218823] [ENSMUST00000218598]
AlphaFold P39087
Predicted Effect probably damaging
Transcript: ENSMUST00000079751
AA Change: S739A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078687
Gene: ENSMUSG00000056073
AA Change: S739A

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: S739A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101124
Gene: ENSMUSG00000056073
AA Change: S739A

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: ENSMUST00000105485
AA Change: S739A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101125
Gene: ENSMUSG00000056073
AA Change: S739A

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: ENSMUST00000105486
AA Change: S739A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101126
Gene: ENSMUSG00000056073
AA Change: S739A

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 damaging
Transcript: ENSMUST00000105487
AA Change: S739A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101127
Gene: ENSMUSG00000056073
AA Change: S739A

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 probably damaging
Transcript: ENSMUST00000218441
AA Change: S739A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000218823
AA Change: S739A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect unknown
Transcript: ENSMUST00000219509
AA Change: S178A
Predicted Effect probably damaging
Transcript: ENSMUST00000218598
AA Change: S739A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.2308 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 99% (83/84)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,030,458 (GRCm39) Y763F probably benign Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Actl11 A G 9: 107,808,682 (GRCm39) T1002A probably damaging Het
Ampd1 T A 3: 102,998,980 (GRCm39) N378K probably damaging Het
Arhgap42 A G 9: 9,033,587 (GRCm39) probably benign Het
Arhgap6 C A X: 167,579,499 (GRCm39) P95T possibly damaging Het
Atg14 T C 14: 47,798,102 (GRCm39) N87S probably benign Het
Atp9b C T 18: 80,805,353 (GRCm39) C735Y probably damaging Het
Atp9b T A 18: 80,822,122 (GRCm39) T110S probably benign Het
Birc6 T G 17: 74,919,314 (GRCm39) L221R probably damaging Het
Ces1c A G 8: 93,854,233 (GRCm39) F101L probably benign Het
Cfap91 A G 16: 38,141,762 (GRCm39) V390A probably damaging Het
Chsy1 T C 7: 65,821,750 (GRCm39) Y662H probably damaging Het
Cldn12 A T 5: 5,557,900 (GRCm39) F176I probably benign Het
Col5a2 A G 1: 45,450,626 (GRCm39) S374P probably benign Het
Col6a2 A T 10: 76,439,544 (GRCm39) V740E probably damaging Het
Cpne3 A T 4: 19,526,336 (GRCm39) I401K probably damaging Het
Cspp1 T A 1: 10,159,191 (GRCm39) probably null Het
Ddn G A 15: 98,704,647 (GRCm39) T215I possibly damaging Het
Dync1i1 T C 6: 5,769,799 (GRCm39) probably benign Het
Dync2li1 T C 17: 84,954,667 (GRCm39) probably benign Het
Eif2a T A 3: 58,445,005 (GRCm39) L50* probably null Het
Elavl3 G A 9: 21,929,875 (GRCm39) A343V probably damaging Het
Fastkd1 T C 2: 69,538,982 (GRCm39) probably null Het
Fgf8 C A 19: 45,730,786 (GRCm39) V80F possibly damaging Het
Fras1 A T 5: 96,891,046 (GRCm39) E2858D probably benign Het
Fshr A T 17: 89,293,529 (GRCm39) L383Q probably damaging Het
Glb1 A G 9: 114,246,171 (GRCm39) K74R probably benign Het
Gmeb2 T G 2: 180,897,019 (GRCm39) M290L probably benign Het
Gnptg A G 17: 25,454,828 (GRCm39) probably null Het
Grk2 T A 19: 4,337,222 (GRCm39) Q659L probably benign Het
Hdhd5 A G 6: 120,491,473 (GRCm39) V210A probably damaging Het
Hyal1 C T 9: 107,455,091 (GRCm39) L134F probably damaging Het
Itgb2 A T 10: 77,381,987 (GRCm39) K18N possibly damaging Het
Jam3 A T 9: 27,017,701 (GRCm39) I29K possibly damaging Het
Kcnh3 C A 15: 99,137,796 (GRCm39) D830E probably benign Het
Kcnmb4 T C 10: 116,309,203 (GRCm39) D75G possibly damaging Het
Kdm4b A G 17: 56,707,025 (GRCm39) Y981C probably damaging Het
Klk1b26 C A 7: 43,665,810 (GRCm39) D207E probably benign Het
Kmt2a G T 9: 44,759,563 (GRCm39) T762N probably benign Het
Kmt2d A G 15: 98,742,819 (GRCm39) probably benign Het
Lama4 T C 10: 38,964,876 (GRCm39) S1414P possibly damaging Het
Lce1f C G 3: 92,626,276 (GRCm39) C127S unknown Het
Map7d1 A G 4: 126,128,558 (GRCm39) probably null Het
Ninl T C 2: 150,822,096 (GRCm39) D2G possibly damaging Het
Or2w1b T A 13: 21,300,303 (GRCm39) M147K probably benign Het
Or5k3 A G 16: 58,969,287 (GRCm39) T25A probably benign Het
Or5m11b C T 2: 85,806,372 (GRCm39) P262S possibly damaging Het
Or6n1 T A 1: 173,916,813 (GRCm39) L69* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pax8 A G 2: 24,319,608 (GRCm39) Y381H possibly damaging Het
Pde7a T C 3: 19,314,408 (GRCm39) I63V possibly damaging Het
Pgm3 A T 9: 86,452,340 (GRCm39) F40Y probably benign Het
Phrf1 G T 7: 140,836,564 (GRCm39) D78Y probably damaging Het
Plekhg1 C T 10: 3,890,538 (GRCm39) probably benign Het
Prss59 A T 6: 40,898,652 (GRCm39) S199T probably benign Het
Pum1 T C 4: 130,446,567 (GRCm39) S209P probably damaging Het
Qtrt2 A T 16: 43,689,337 (GRCm39) F220L probably benign Het
Rgs9 A G 11: 109,159,747 (GRCm39) probably null Het
Rin3 A G 12: 102,335,018 (GRCm39) T230A unknown Het
Ros1 A T 10: 51,974,773 (GRCm39) V1604E possibly damaging Het
Rpp14 A G 14: 8,090,528 (GRCm38) M151V probably benign Het
Sacs T A 14: 61,451,153 (GRCm39) F4400I possibly damaging Het
Scamp1 C T 13: 94,361,437 (GRCm39) V148I probably benign Het
Slc13a5 A G 11: 72,141,557 (GRCm39) C428R probably damaging Het
Slc43a2 T G 11: 75,453,733 (GRCm39) probably null Het
Smarcc2 T A 10: 128,299,741 (GRCm39) N135K probably damaging Het
Snx15 G C 19: 6,172,094 (GRCm39) S116R probably damaging Het
Stag1 A G 9: 100,737,885 (GRCm39) E414G possibly damaging Het
Stag1 A T 9: 100,769,426 (GRCm39) probably benign Het
Tmem106a T A 11: 101,481,263 (GRCm39) L257Q possibly damaging Het
Tnc C T 4: 63,882,991 (GRCm39) D1968N probably benign Het
Trim42 A G 9: 97,248,138 (GRCm39) L186P possibly damaging Het
Tshb T A 3: 102,685,624 (GRCm39) probably benign Het
Ttn T A 2: 76,584,484 (GRCm39) D13881V probably damaging Het
Uqcrc2 T C 7: 120,239,506 (GRCm39) V56A probably benign Het
Uty G A Y: 1,197,228 (GRCm39) T113I probably damaging Het
Vps13c A G 9: 67,864,787 (GRCm39) E3032G probably benign Het
Wfdc9 T G 2: 164,493,729 (GRCm39) probably benign Het
Zc3h7a G A 16: 10,980,520 (GRCm39) T31I probably damaging Het
Zfp462 T C 4: 55,060,046 (GRCm39) S1191P probably 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
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'- TTTTCAGTTTGGAGCCTGAGACCG -3'
(R):5'- CCTGACAGTGTCAATCTGAGTCCAGTA -3'

Sequencing Primer
(F):5'- CCTGCTCTTATAGATAAAAGAGTTCC -3'
(R):5'- CAGTCAGAAGACTCTTCATTAAGCTC -3'
Posted On 2014-04-13