Incidental Mutation 'R0613:Grik1'
ID 54915
Institutional Source Beutler Lab
Gene Symbol Grik1
Ensembl Gene ENSMUSG00000022935
Gene Name glutamate receptor, ionotropic, kainate 1
Synonyms Glurbeta1, Glur5, D16Ium24e, Glur-5, D16Ium24, GluK5, A830007B11Rik
MMRRC Submission 038802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0613 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 87895900-88290265 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 88051333 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023652] [ENSMUST00000023652] [ENSMUST00000072256] [ENSMUST00000072256] [ENSMUST00000114137] [ENSMUST00000114137] [ENSMUST00000211444] [ENSMUST00000211444] [ENSMUST00000227986] [ENSMUST00000228034] [ENSMUST00000228188]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000023652
SMART Domains Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935

DomainStartEndE-ValueType
Pfam:ANF_receptor 14 357 4.7e-69 PFAM
Pfam:Peripla_BP_6 48 347 5.1e-11 PFAM
PBPe 394 762 2.4e-130 SMART
Lig_chan-Glu_bd 404 468 6.34e-31 SMART
Blast:PBPe 770 815 2e-16 BLAST
low complexity region 829 850 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000023652
SMART Domains Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935

DomainStartEndE-ValueType
Pfam:ANF_receptor 14 357 4.7e-69 PFAM
Pfam:Peripla_BP_6 48 347 5.1e-11 PFAM
PBPe 394 762 2.4e-130 SMART
Lig_chan-Glu_bd 404 468 6.34e-31 SMART
Blast:PBPe 770 815 2e-16 BLAST
low complexity region 829 850 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000072256
SMART Domains Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935

DomainStartEndE-ValueType
Pfam:ANF_receptor 14 357 2.6e-72 PFAM
Pfam:Peripla_BP_6 49 347 3.4e-10 PFAM
PBPe 394 762 2.4e-130 SMART
Lig_chan-Glu_bd 404 468 6.34e-31 SMART
Blast:PBPe 770 817 1e-17 BLAST
low complexity region 858 879 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000072256
SMART Domains Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935

DomainStartEndE-ValueType
Pfam:ANF_receptor 14 357 2.6e-72 PFAM
Pfam:Peripla_BP_6 49 347 3.4e-10 PFAM
PBPe 394 762 2.4e-130 SMART
Lig_chan-Glu_bd 404 468 6.34e-31 SMART
Blast:PBPe 770 817 1e-17 BLAST
low complexity region 858 879 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114137
SMART Domains Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935

DomainStartEndE-ValueType
Pfam:ANF_receptor 1 325 5.4e-63 PFAM
Pfam:Peripla_BP_6 18 315 5.1e-11 PFAM
PBPe 362 730 2.4e-130 SMART
Lig_chan-Glu_bd 372 436 6.34e-31 SMART
Blast:PBPe 738 783 2e-16 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000114137
SMART Domains Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935

DomainStartEndE-ValueType
Pfam:ANF_receptor 1 325 5.4e-63 PFAM
Pfam:Peripla_BP_6 18 315 5.1e-11 PFAM
PBPe 362 730 2.4e-130 SMART
Lig_chan-Glu_bd 372 436 6.34e-31 SMART
Blast:PBPe 738 783 2e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210910
Predicted Effect probably null
Transcript: ENSMUST00000211444
Predicted Effect probably null
Transcript: ENSMUST00000211444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226447
Predicted Effect probably null
Transcript: ENSMUST00000227986
Predicted Effect probably null
Transcript: ENSMUST00000228034
Predicted Effect probably null
Transcript: ENSMUST00000228188
Meta Mutation Damage Score 0.9490 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 100% (72/72)
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 (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display subtile abnormalities in the electrophysiology of neurons in the brain. Response to chemical pain stimuli is also reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd A T 8: 105,700,568 (GRCm38) probably null Het
Adcy9 A G 16: 4,419,539 (GRCm38) S3P probably damaging Het
Adgrl4 T C 3: 151,543,222 (GRCm38) probably benign Het
Aff3 T C 1: 38,209,923 (GRCm38) E700G probably benign Het
Ahctf1 A G 1: 179,769,414 (GRCm38) S56P probably damaging Het
Atp12a T A 14: 56,374,521 (GRCm38) I384N probably damaging Het
Brca1 A T 11: 101,508,210 (GRCm38) S1519T probably benign Het
Ccl25 T C 8: 4,349,850 (GRCm38) V94A probably benign Het
Cep170 T C 1: 176,774,680 (GRCm38) T287A probably benign Het
Ces1a A G 8: 93,025,581 (GRCm38) S383P probably benign Het
Cntnap3 A T 13: 64,758,414 (GRCm38) F793I probably damaging Het
Ctsm T C 13: 61,539,682 (GRCm38) R89G probably damaging Het
Cyp2j12 T G 4: 96,102,079 (GRCm38) T417P probably damaging Het
D430041D05Rik G C 2: 104,167,950 (GRCm38) P1836R probably damaging Het
Edn2 T A 4: 120,161,864 (GRCm38) probably null Het
Emc1 T A 4: 139,375,072 (GRCm38) probably benign Het
Fam189a2 T A 19: 23,986,489 (GRCm38) N239Y probably damaging Het
Fras1 T C 5: 96,700,488 (GRCm38) probably benign Het
Fsip2 A T 2: 82,993,795 (GRCm38) D6624V probably damaging Het
Gpr107 A G 2: 31,178,285 (GRCm38) Y253C probably damaging Het
Gpr108 A G 17: 57,238,174 (GRCm38) probably benign Het
Gtf3c1 G A 7: 125,644,134 (GRCm38) P1766L possibly damaging Het
Gucy2c A T 6: 136,760,723 (GRCm38) N293K probably damaging Het
Hps6 C A 19: 46,003,821 (GRCm38) P66T probably benign Het
Hspa9 A T 18: 34,947,980 (GRCm38) V216E probably damaging Het
Igsf8 T A 1: 172,317,589 (GRCm38) M224K probably benign Het
Igsf9b T C 9: 27,326,920 (GRCm38) V569A probably damaging Het
Itgb4 A T 11: 115,993,342 (GRCm38) I952F probably damaging Het
Kcnh4 C T 11: 100,746,932 (GRCm38) G633E probably benign Het
Khdrbs2 A G 1: 32,657,522 (GRCm38) H344R possibly damaging Het
Kmo C A 1: 175,637,892 (GRCm38) R71S probably damaging Het
Lrrc31 A G 3: 30,685,035 (GRCm38) probably benign Het
Map1b T A 13: 99,441,641 (GRCm38) D168V probably damaging Het
Mfsd6 T C 1: 52,658,696 (GRCm38) probably benign Het
Mgst1 G A 6: 138,156,245 (GRCm38) G186D probably damaging Het
Mrc1 C T 2: 14,294,819 (GRCm38) A740V probably damaging Het
Mroh2a G A 1: 88,243,950 (GRCm38) R770Q probably damaging Het
Mtor T C 4: 148,526,046 (GRCm38) Y1605H possibly damaging Het
Ncoa4 T A 14: 32,176,552 (GRCm38) L443Q probably damaging Het
Nelfa G A 5: 33,903,463 (GRCm38) probably benign Het
Nepn T A 10: 52,401,257 (GRCm38) L363Q probably damaging Het
Nfat5 A G 8: 107,366,295 (GRCm38) T630A possibly damaging Het
Nipal4 A T 11: 46,150,384 (GRCm38) V328E probably benign Het
Olfr1228 A T 2: 89,249,125 (GRCm38) C178S probably damaging Het
Olfr1391 T A 11: 49,327,748 (GRCm38) S112R possibly damaging Het
Olfr462 A T 11: 87,889,227 (GRCm38) V223E possibly damaging Het
Olfr747 T A 14: 50,681,404 (GRCm38) I77F probably benign Het
Olfr809 T A 10: 129,776,262 (GRCm38) M116K probably damaging Het
Olfr924 T A 9: 38,848,613 (GRCm38) C166* probably null Het
Otogl A T 10: 107,817,070 (GRCm38) N1140K probably damaging Het
Ppip5k2 A C 1: 97,752,740 (GRCm38) Y236* probably null Het
Prelid1 C T 13: 55,324,343 (GRCm38) R111* probably null Het
Prpf8 T C 11: 75,503,444 (GRCm38) L1771P probably damaging Het
Ptprb A G 10: 116,302,378 (GRCm38) T396A possibly damaging Het
Ptprb A T 10: 116,302,325 (GRCm38) Y378F possibly damaging Het
Rab3il1 T C 19: 10,028,364 (GRCm38) L174P probably damaging Het
Rab4a T C 8: 123,823,835 (GRCm38) V18A possibly damaging Het
Scn3a T A 2: 65,472,284 (GRCm38) M1273L possibly damaging Het
Sdhc A T 1: 171,129,844 (GRCm38) V156E probably benign Het
Slco3a1 T C 7: 74,346,634 (GRCm38) probably benign Het
Syne3 T C 12: 104,958,112 (GRCm38) T343A probably benign Het
Syt11 A G 3: 88,762,469 (GRCm38) C39R probably damaging Het
Tll2 G T 19: 41,104,990 (GRCm38) D462E probably damaging Het
Tmem132e T A 11: 82,438,338 (GRCm38) V481D probably damaging Het
Tmem161b C T 13: 84,251,320 (GRCm38) L17F probably damaging Het
Vmn2r105 T A 17: 20,208,316 (GRCm38) I833F probably damaging Het
Vstm2a A T 11: 16,263,140 (GRCm38) N175I probably damaging Het
Xpnpep1 G T 19: 53,006,353 (GRCm38) D238E probably damaging Het
Zfp112 G A 7: 24,127,028 (GRCm38) G807D probably benign Het
Zfp518b A T 5: 38,673,603 (GRCm38) V353E probably damaging Het
Zfp69 T C 4: 120,934,347 (GRCm38) E39G probably benign Het
Zfp865 A G 7: 5,029,091 (GRCm38) H25R possibly damaging Het
Other mutations in Grik1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Grik1 APN 16 87,957,600 (GRCm38) splice site probably null
IGL01347:Grik1 APN 16 87,957,593 (GRCm38) missense probably benign 0.00
IGL01612:Grik1 APN 16 87,946,735 (GRCm38) missense probably damaging 1.00
IGL02010:Grik1 APN 16 88,051,508 (GRCm38) missense possibly damaging 0.96
IGL02059:Grik1 APN 16 88,056,049 (GRCm38) missense possibly damaging 0.95
IGL02068:Grik1 APN 16 87,940,651 (GRCm38) missense possibly damaging 0.80
IGL02200:Grik1 APN 16 87,940,565 (GRCm38) missense probably damaging 1.00
IGL02206:Grik1 APN 16 87,935,920 (GRCm38) missense probably damaging 1.00
IGL02375:Grik1 APN 16 87,946,556 (GRCm38) missense probably damaging 1.00
IGL02598:Grik1 APN 16 87,947,984 (GRCm38) missense probably damaging 1.00
IGL02686:Grik1 APN 16 88,009,761 (GRCm38) splice site probably null
IGL02890:Grik1 APN 16 87,896,802 (GRCm38) intron probably benign
R0096:Grik1 UTSW 16 88,034,226 (GRCm38) missense possibly damaging 0.55
R0096:Grik1 UTSW 16 88,034,226 (GRCm38) missense possibly damaging 0.55
R0387:Grik1 UTSW 16 88,034,350 (GRCm38) splice site probably benign
R1087:Grik1 UTSW 16 88,006,377 (GRCm38) missense probably benign 0.00
R1694:Grik1 UTSW 16 87,950,068 (GRCm38) missense probably damaging 0.96
R1905:Grik1 UTSW 16 87,896,866 (GRCm38) nonsense probably null
R1928:Grik1 UTSW 16 88,051,353 (GRCm38) missense probably damaging 0.99
R2157:Grik1 UTSW 16 88,056,124 (GRCm38) missense probably damaging 1.00
R3122:Grik1 UTSW 16 88,006,473 (GRCm38) missense probably damaging 1.00
R3906:Grik1 UTSW 16 88,006,449 (GRCm38) missense probably benign 0.00
R4194:Grik1 UTSW 16 87,946,728 (GRCm38) missense probably benign 0.45
R4343:Grik1 UTSW 16 87,896,252 (GRCm38) missense probably benign 0.00
R4349:Grik1 UTSW 16 87,957,543 (GRCm38) missense probably damaging 1.00
R4416:Grik1 UTSW 16 88,051,461 (GRCm38) missense probably benign 0.00
R4423:Grik1 UTSW 16 87,923,200 (GRCm38) missense probably benign 0.10
R4660:Grik1 UTSW 16 87,923,131 (GRCm38) missense probably damaging 1.00
R4804:Grik1 UTSW 16 87,957,569 (GRCm38) missense probably damaging 0.99
R5052:Grik1 UTSW 16 87,950,098 (GRCm38) missense probably benign 0.01
R5126:Grik1 UTSW 16 87,947,859 (GRCm38) missense probably damaging 1.00
R5334:Grik1 UTSW 16 87,923,194 (GRCm38) frame shift probably null
R5335:Grik1 UTSW 16 87,923,194 (GRCm38) frame shift probably null
R5337:Grik1 UTSW 16 87,923,194 (GRCm38) frame shift probably null
R5479:Grik1 UTSW 16 87,936,026 (GRCm38) missense probably damaging 1.00
R6141:Grik1 UTSW 16 87,896,872 (GRCm38) missense probably benign 0.00
R6188:Grik1 UTSW 16 88,056,071 (GRCm38) missense probably benign 0.06
R6335:Grik1 UTSW 16 87,947,906 (GRCm38) missense probably damaging 1.00
R6610:Grik1 UTSW 16 88,034,312 (GRCm38) missense probably damaging 1.00
R6737:Grik1 UTSW 16 88,051,391 (GRCm38) missense probably damaging 1.00
R7275:Grik1 UTSW 16 87,912,820 (GRCm38) missense probably benign 0.06
R7876:Grik1 UTSW 16 87,923,233 (GRCm38) missense
R8021:Grik1 UTSW 16 87,914,222 (GRCm38) missense
R8027:Grik1 UTSW 16 87,936,005 (GRCm38) missense
R8096:Grik1 UTSW 16 88,006,467 (GRCm38) missense
R8266:Grik1 UTSW 16 87,947,979 (GRCm38) missense probably benign
R8515:Grik1 UTSW 16 87,923,282 (GRCm38) nonsense probably null
R8922:Grik1 UTSW 16 87,896,279 (GRCm38) missense unknown
R9097:Grik1 UTSW 16 87,935,908 (GRCm38) missense
R9125:Grik1 UTSW 16 88,056,068 (GRCm38) missense
R9273:Grik1 UTSW 16 88,051,491 (GRCm38) missense
R9286:Grik1 UTSW 16 88,051,427 (GRCm38) missense
R9491:Grik1 UTSW 16 87,950,107 (GRCm38) missense
RF016:Grik1 UTSW 16 88,034,186 (GRCm38) missense
RF022:Grik1 UTSW 16 87,896,337 (GRCm38) missense
X0018:Grik1 UTSW 16 87,946,596 (GRCm38) missense probably damaging 1.00
Z1177:Grik1 UTSW 16 87,946,684 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- TCGCTGGCTCTAGTTAAACAAAGGTAAG -3'
(R):5'- ACACATTCAGACTCGCTGGAAACAC -3'

Sequencing Primer
(F):5'- tggcagcatccaggcag -3'
(R):5'- TGGAAACACCCTTCTGTGGAC -3'
Posted On 2013-07-11