Incidental Mutation 'R5334:Grik1'
ID 423441
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 # R5334 (G1)
Quality Score 217
Status Not validated
Chromosome 16
Chromosomal Location 87692788-88087153 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CGG to CGGG at 87720082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023652] [ENSMUST00000072256] [ENSMUST00000114137] [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: 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 noncoding transcript
Transcript: ENSMUST00000210700
Predicted Effect probably null
Transcript: ENSMUST00000211444
Predicted Effect probably null
Transcript: ENSMUST00000227986
Predicted Effect probably null
Transcript: ENSMUST00000228034
Predicted Effect probably null
Transcript: ENSMUST00000228188
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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 (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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ap4s1 C T 12: 51,785,454 (GRCm39) S142L probably benign Het
Apol11a A G 15: 77,400,953 (GRCm39) T147A probably benign Het
Aqp9 T C 9: 71,030,292 (GRCm39) probably null Het
Arhgap25 T A 6: 87,440,243 (GRCm39) N468I possibly damaging Het
Arhgef2 T A 3: 88,553,636 (GRCm39) S924R probably damaging Het
Atad3a A T 4: 155,840,146 (GRCm39) L144Q probably damaging Het
Ccbe1 T C 18: 66,216,316 (GRCm39) I136V probably damaging Het
Col24a1 C A 3: 145,167,280 (GRCm39) P1119Q possibly damaging Het
Dgkd T C 1: 87,865,989 (GRCm39) probably null Het
Dnah7a A G 1: 53,542,805 (GRCm39) I2455T probably benign Het
Dock2 T C 11: 34,178,643 (GRCm39) T1795A probably benign Het
Dpp6 A T 5: 27,914,538 (GRCm39) E541V probably benign Het
Edem1 T C 6: 108,825,793 (GRCm39) probably null Het
Fbxo41 A G 6: 85,455,465 (GRCm39) V573A probably damaging Het
Fech A C 18: 64,597,191 (GRCm39) V256G probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gal3st4 T G 5: 138,263,983 (GRCm39) K339Q probably benign Het
Gpr158 T A 2: 21,832,316 (GRCm39) S1139T probably benign Het
Gpr180 A T 14: 118,397,468 (GRCm39) S321C probably damaging Het
Grin2c T G 11: 115,146,881 (GRCm39) N438T possibly damaging Het
Hcn2 T C 10: 79,562,125 (GRCm39) S374P probably damaging Het
Hmcn1 T A 1: 150,631,123 (GRCm39) I892F probably damaging Het
Ifi207 C T 1: 173,555,097 (GRCm39) V869I probably benign Het
Itgad T C 7: 127,788,458 (GRCm39) Y390H probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnj15 A G 16: 95,097,508 (GRCm39) K377E probably damaging Het
Kcnq3 A G 15: 65,897,073 (GRCm39) S276P probably damaging Het
Klhl26 T C 8: 70,904,968 (GRCm39) D280G probably damaging Het
Lmnb2 C T 10: 80,739,791 (GRCm39) V376I probably benign Het
Lrrc37 T C 11: 103,504,699 (GRCm39) Q2423R probably benign Het
Mepce T A 5: 137,784,889 (GRCm39) R29S probably benign Het
Mlh3 A G 12: 85,292,535 (GRCm39) probably null Het
Mlip T A 9: 77,150,958 (GRCm39) T33S probably damaging Het
Msantd5f6 T A 4: 73,321,754 (GRCm39) M94L probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ncapg2 T C 12: 116,390,257 (GRCm39) I402T probably damaging Het
Or2aj6 C G 16: 19,443,241 (GRCm39) G203A probably benign Het
Or5m13b T C 2: 85,754,058 (GRCm39) Y149H probably damaging Het
Pcsk5 T C 19: 17,439,215 (GRCm39) D1301G probably benign Het
Pilrb1 T C 5: 137,853,165 (GRCm39) M213V probably benign Het
Plxdc1 T C 11: 97,846,931 (GRCm39) T163A possibly damaging Het
Pnpla2 T C 7: 141,039,406 (GRCm39) L373P probably damaging Het
Prickle2 A G 6: 92,402,665 (GRCm39) Y52H probably damaging Het
Rnf220 A G 4: 117,129,548 (GRCm39) C294R probably damaging Het
Slc12a1 A G 2: 125,059,809 (GRCm39) D903G probably damaging Het
Slc34a1 T C 13: 24,003,034 (GRCm39) F228S probably damaging Het
Sptbn1 T C 11: 30,087,364 (GRCm39) E1025G possibly damaging Het
Sult1c2 T G 17: 54,271,758 (GRCm39) D143A probably damaging Het
Taar1 T G 10: 23,796,443 (GRCm39) I47R probably damaging Het
Tctn3 G T 19: 40,591,266 (GRCm39) Q514K probably benign Het
Tg T C 15: 66,549,904 (GRCm39) F222S probably damaging Het
Tmem236 C A 2: 14,223,871 (GRCm39) T220K possibly damaging Het
Trim50 C T 5: 135,396,330 (GRCm39) T426M probably damaging Het
Vmn1r237 T C 17: 21,534,942 (GRCm39) F222L probably benign Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zfp85 T C 13: 67,899,803 (GRCm39) Y52C probably damaging 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
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
RF022:Grik1 UTSW 16 87,693,225 (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'- GAATACTTGTAATCAACATCGCCC -3'
(R):5'- TCCCACGCACAGAGAGTTTC -3'

Sequencing Primer
(F):5'- GCCCCAACTTAGCCTTGG -3'
(R):5'- TTTGACCCACTAGGATGATGAACAGC -3'
Posted On 2016-08-04