Incidental Mutation 'RF022:Grik1'
ID 603964
Institutional Source Beutler Lab
Gene Symbol Grik1
Ensembl Gene ENSMUSG00000022935
Gene Name glutamate receptor, ionotropic, kainate 1
Synonyms Glur-5, GluK5, A830007B11Rik, Glurbeta1, D16Ium24, D16Ium24e, Glur5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF022 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 87692788-88087153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87693225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 859 (N859K)
Ref Sequence ENSEMBL: ENSMUSP00000023652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023652] [ENSMUST00000072256] [ENSMUST00000227986] [ENSMUST00000228034] [ENSMUST00000228188]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: N859K

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
SMART Domains Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: N888K

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 benign
Transcript: ENSMUST00000227986
AA Change: N903K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000228034
Predicted Effect probably benign
Transcript: ENSMUST00000228188
AA Change: N874K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
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 (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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik GTACT GTACTACT 12: 110,634,877 (GRCm39) probably null Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Adam6b A T 12: 113,455,289 (GRCm39) E702V possibly damaging Het
Arpc3 A G 5: 122,538,489 (GRCm39) T7A probably benign Het
Bcl3 G A 7: 19,542,966 (GRCm39) P393L probably damaging Het
Ceacam9 A G 7: 16,459,304 (GRCm39) D201G possibly damaging Het
Chga AGC AGCCGC 12: 102,527,679 (GRCm39) probably benign Het
Clgn A G 8: 84,152,235 (GRCm39) K579R probably damaging Het
Cntnap2 C T 6: 46,998,599 (GRCm39) R884W probably damaging Het
Col6a4 A T 9: 105,954,207 (GRCm39) D377E probably damaging Het
Cort GCCCACTCGT G 4: 149,209,869 (GRCm39) probably benign Het
D5Ertd579e A C 5: 36,772,006 (GRCm39) I796M probably damaging Het
Dmkn GGTGGAAGTGGTGGAAG GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG 7: 30,466,600 (GRCm39) probably benign Het
Dpagt1 G T 9: 44,243,262 (GRCm39) V266L possibly damaging Het
Ebf3 C A 7: 136,915,671 (GRCm39) probably benign Het
Exd2 AGCAGCCGCAGCC AGCAGCC 12: 80,522,691 (GRCm39) probably benign Het
Flywch1 CACTCCTGGTGT CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT 17: 23,981,141 (GRCm39) probably null Het
Gab3 CTT CTTATT X: 74,043,600 (GRCm39) probably null Het
Golga4 A G 9: 118,387,057 (GRCm39) D1393G probably damaging Het
Gpc5 G A 14: 115,789,688 (GRCm39) V521I probably damaging Het
Insrr G A 3: 87,711,792 (GRCm39) A511T possibly damaging Het
Isx A G 8: 75,600,474 (GRCm39) D69G probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lkaaear1 CAGCTCCAG CAGCTCCAGGTCGAGCTCCAG 2: 181,339,370 (GRCm39) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 75,185,014 (GRCm39) probably benign Het
Magel2 A G 7: 62,029,841 (GRCm39) E915G unknown Het
Maml3 A G 3: 51,764,083 (GRCm39) S294P probably damaging Het
Mamld1 AGC AGCCGC X: 70,162,426 (GRCm39) probably benign Het
Mef2d A T 3: 88,075,574 (GRCm39) T486S probably benign Het
Ms4a8a A G 19: 11,053,689 (GRCm39) V139A possibly damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2z8 T G 8: 72,812,468 (GRCm39) *315G probably null Het
Pdik1l GTTTTTGTTTT GTTTTTGTTTTTTTTTTGTTTT 4: 134,006,678 (GRCm39) probably null Het
Pnma8a TCATGATGCACCTGCTTCAACATC TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC 7: 16,695,352 (GRCm39) probably benign Het
Ppfibp2 T C 7: 107,296,817 (GRCm39) L177P probably damaging Het
Ppp1r13l ACAGGCACCCTGCTCCGGC AC 7: 19,102,467 (GRCm39) probably benign Het
Ptprh A G 7: 4,552,367 (GRCm39) F966L probably benign Het
Rad17 A G 13: 100,773,593 (GRCm39) L132S probably damaging Het
Raph1 GG GGGGG 1: 60,528,426 (GRCm39) probably benign Het
Rnf126 AGGACGAGG AG 10: 79,594,977 (GRCm39) probably null Het
Rwdd2b C T 16: 87,233,558 (GRCm39) A181T probably benign Het
Sh3pxd2b GCCTGT GCCTGTTCCTGT 11: 32,373,054 (GRCm39) probably benign Het
Six3 CGG CGGTGG 17: 85,928,784 (GRCm39) probably benign Het
Sla C T 15: 66,654,593 (GRCm39) G231D probably benign Het
Tcof1 CAG CAGTAG 18: 60,968,807 (GRCm39) probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tgm5 T A 2: 120,902,092 (GRCm39) E192D probably damaging Het
Tmem123 A G 9: 7,791,414 (GRCm39) Y171C probably damaging Het
Tnrc18 G A 5: 142,759,385 (GRCm39) A999V Het
Triobp C T 15: 78,858,482 (GRCm39) P1361L probably benign Het
Ubac1 A T 2: 25,895,470 (GRCm39) W328R probably damaging Het
Ube2q1 A G 3: 89,688,200 (GRCm39) N324S probably benign Het
Zcchc2 T C 1: 105,939,472 (GRCm39) I407T possibly damaging Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign Het
Other mutations in Grik1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Grik1 APN 16 87,754,488 (GRCm39) splice site probably null
IGL01347:Grik1 APN 16 87,754,481 (GRCm39) missense probably benign 0.00
IGL01612:Grik1 APN 16 87,743,623 (GRCm39) missense probably damaging 1.00
IGL02010:Grik1 APN 16 87,848,396 (GRCm39) missense possibly damaging 0.96
IGL02059:Grik1 APN 16 87,852,937 (GRCm39) missense possibly damaging 0.95
IGL02068:Grik1 APN 16 87,737,539 (GRCm39) missense possibly damaging 0.80
IGL02200:Grik1 APN 16 87,737,453 (GRCm39) missense probably damaging 1.00
IGL02206:Grik1 APN 16 87,732,808 (GRCm39) missense probably damaging 1.00
IGL02375:Grik1 APN 16 87,743,444 (GRCm39) missense probably damaging 1.00
IGL02598:Grik1 APN 16 87,744,872 (GRCm39) missense probably damaging 1.00
IGL02686:Grik1 APN 16 87,806,649 (GRCm39) splice site probably null
IGL02890:Grik1 APN 16 87,693,690 (GRCm39) intron probably benign
R0096:Grik1 UTSW 16 87,831,114 (GRCm39) missense possibly damaging 0.55
R0096:Grik1 UTSW 16 87,831,114 (GRCm39) missense possibly damaging 0.55
R0387:Grik1 UTSW 16 87,831,238 (GRCm39) splice site probably benign
R0613:Grik1 UTSW 16 87,848,221 (GRCm39) critical splice donor site probably null
R1087:Grik1 UTSW 16 87,803,265 (GRCm39) missense probably benign 0.00
R1694:Grik1 UTSW 16 87,746,956 (GRCm39) missense probably damaging 0.96
R1905:Grik1 UTSW 16 87,693,754 (GRCm39) nonsense probably null
R1928:Grik1 UTSW 16 87,848,241 (GRCm39) missense probably damaging 0.99
R2157:Grik1 UTSW 16 87,853,012 (GRCm39) missense probably damaging 1.00
R3122:Grik1 UTSW 16 87,803,361 (GRCm39) missense probably damaging 1.00
R3906:Grik1 UTSW 16 87,803,337 (GRCm39) missense probably benign 0.00
R4194:Grik1 UTSW 16 87,743,616 (GRCm39) missense probably benign 0.45
R4343:Grik1 UTSW 16 87,693,140 (GRCm39) missense probably benign 0.00
R4349:Grik1 UTSW 16 87,754,431 (GRCm39) missense probably damaging 1.00
R4416:Grik1 UTSW 16 87,848,349 (GRCm39) missense probably benign 0.00
R4423:Grik1 UTSW 16 87,720,088 (GRCm39) missense probably benign 0.10
R4660:Grik1 UTSW 16 87,720,019 (GRCm39) missense probably damaging 1.00
R4804:Grik1 UTSW 16 87,754,457 (GRCm39) missense probably damaging 0.99
R5052:Grik1 UTSW 16 87,746,986 (GRCm39) missense probably benign 0.01
R5126:Grik1 UTSW 16 87,744,747 (GRCm39) missense probably damaging 1.00
R5334:Grik1 UTSW 16 87,720,082 (GRCm39) frame shift probably null
R5335:Grik1 UTSW 16 87,720,082 (GRCm39) frame shift probably null
R5337:Grik1 UTSW 16 87,720,082 (GRCm39) frame shift probably null
R5479:Grik1 UTSW 16 87,732,914 (GRCm39) missense probably damaging 1.00
R6141:Grik1 UTSW 16 87,693,760 (GRCm39) missense probably benign 0.00
R6188:Grik1 UTSW 16 87,852,959 (GRCm39) missense probably benign 0.06
R6335:Grik1 UTSW 16 87,744,794 (GRCm39) missense probably damaging 1.00
R6610:Grik1 UTSW 16 87,831,200 (GRCm39) missense probably damaging 1.00
R6737:Grik1 UTSW 16 87,848,279 (GRCm39) missense probably damaging 1.00
R7275:Grik1 UTSW 16 87,709,708 (GRCm39) missense probably benign 0.06
R7876:Grik1 UTSW 16 87,720,121 (GRCm39) missense
R8021:Grik1 UTSW 16 87,711,110 (GRCm39) missense
R8027:Grik1 UTSW 16 87,732,893 (GRCm39) missense
R8096:Grik1 UTSW 16 87,803,355 (GRCm39) missense
R8266:Grik1 UTSW 16 87,744,867 (GRCm39) missense probably benign
R8515:Grik1 UTSW 16 87,720,170 (GRCm39) nonsense probably null
R8922:Grik1 UTSW 16 87,693,167 (GRCm39) missense unknown
R9097:Grik1 UTSW 16 87,732,796 (GRCm39) missense
R9125:Grik1 UTSW 16 87,852,956 (GRCm39) missense
R9273:Grik1 UTSW 16 87,848,379 (GRCm39) missense
R9286:Grik1 UTSW 16 87,848,315 (GRCm39) missense
R9491:Grik1 UTSW 16 87,746,995 (GRCm39) missense
RF016:Grik1 UTSW 16 87,831,074 (GRCm39) missense
X0018:Grik1 UTSW 16 87,743,484 (GRCm39) missense probably damaging 1.00
Z1177:Grik1 UTSW 16 87,743,572 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AATATGTGTCATGGGCATGGC -3'
(R):5'- TGAGCTAACTTACTGCCTCAGTTTC -3'

Sequencing Primer
(F):5'- GGCATGGCCTTTTTCTTCTTTACAGG -3'
(R):5'- CCTTAAGTATAAAATACAGGTGGCC -3'
Posted On 2019-12-04