Incidental Mutation 'IGL02206:Grik1'
ID 284467
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02206
Quality Score
Status
Chromosome 16
Chromosomal Location 87692788-88087153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87732808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 703 (G703D)
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 damaging
Transcript: ENSMUST00000023652
AA Change: G688D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: G688D

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 damaging
Transcript: ENSMUST00000072256
AA Change: G688D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: G688D

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 damaging
Transcript: ENSMUST00000114137
AA Change: G617D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: G617D

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 damaging
Transcript: ENSMUST00000211444
AA Change: G688D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211635
Predicted Effect probably damaging
Transcript: ENSMUST00000227986
AA Change: G703D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228034
AA Change: G703D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228188
AA Change: G703D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,151,573 (GRCm39) K824* probably null Het
Acot12 A G 13: 91,908,106 (GRCm39) D96G probably damaging Het
Acvr2b C T 9: 119,257,064 (GRCm39) Q98* probably null Het
Aldh8a1 T C 10: 21,271,474 (GRCm39) V400A probably benign Het
Aox1 C A 1: 58,104,499 (GRCm39) H559N probably benign Het
Arhgef18 T A 8: 3,495,034 (GRCm39) I431N probably benign Het
Atad5 A G 11: 79,985,009 (GRCm39) D32G probably damaging Het
Cgas T C 9: 78,350,362 (GRCm39) probably null Het
Cmtm8 T C 9: 114,672,967 (GRCm39) H10R probably benign Het
Cnn1 T G 9: 22,015,674 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Defb23 C A 2: 152,306,455 (GRCm39) E20* probably null Het
Dennd2a A T 6: 39,500,383 (GRCm39) S61T probably damaging Het
Fam13a A T 6: 58,964,204 (GRCm39) I76K probably benign Het
Fgd5 A G 6: 91,964,239 (GRCm39) probably benign Het
Flt4 A T 11: 49,521,217 (GRCm39) R409W probably damaging Het
Gramd1b T C 9: 40,211,328 (GRCm39) T652A probably benign Het
Impg2 A G 16: 56,079,960 (GRCm39) E479G possibly damaging Het
Itpr1 A G 6: 108,526,781 (GRCm39) N2743S probably damaging Het
Klc1 A G 12: 111,744,550 (GRCm39) probably benign Het
Ndufa9 G A 6: 126,821,366 (GRCm39) R75* probably null Het
Neurl4 A G 11: 69,801,166 (GRCm39) N1181S probably damaging Het
Or5an9 T C 19: 12,187,824 (GRCm39) I298T probably damaging Het
Phf1 A G 17: 27,155,843 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,376,245 (GRCm39) I969T probably benign Het
Pprc1 G A 19: 46,060,190 (GRCm39) R1538Q probably damaging Het
Rasd1 C T 11: 59,854,778 (GRCm39) G234D possibly damaging Het
Rnf152 T C 1: 105,212,549 (GRCm39) T3A probably benign Het
Rrh C T 3: 129,605,346 (GRCm39) V115I probably benign Het
Rundc3a G T 11: 102,290,460 (GRCm39) E217* probably null Het
Sae1 A T 7: 16,064,581 (GRCm39) V306E possibly damaging Het
Serpinb7 T C 1: 107,363,102 (GRCm39) S89P possibly damaging Het
Serpinb9h A G 13: 33,588,182 (GRCm39) T256A probably damaging Het
Sgo2b T A 8: 64,394,118 (GRCm39) T74S possibly damaging Het
Slc5a7 T C 17: 54,604,022 (GRCm39) D48G probably damaging Het
Stn1 T C 19: 47,504,612 (GRCm39) M177V possibly damaging Het
Tgm1 T C 14: 55,942,392 (GRCm39) E653G possibly damaging Het
Thsd4 T C 9: 60,301,398 (GRCm39) K299R probably benign Het
Ttc22 A G 4: 106,493,186 (GRCm39) T278A probably damaging Het
Ubl4b G T 3: 107,462,141 (GRCm39) Q40K possibly damaging Het
Zfp677 A G 17: 21,613,499 (GRCm39) D31G 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
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
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
Posted On 2015-04-16