Incidental Mutation 'IGL02068:Grik1'
ID 185725
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 # IGL02068
Quality Score
Status
Chromosome 16
Chromosomal Location 87692788-88087153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87737539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 585 (T585K)
Ref Sequence ENSEMBL: ENSMUSP00000147948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023652] [ENSMUST00000072256] [ENSMUST00000114137] [ENSMUST00000211444] [ENSMUST00000227986] [ENSMUST00000228188] [ENSMUST00000228034]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023652
AA Change: T585K

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: T585K

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 possibly damaging
Transcript: ENSMUST00000072256
AA Change: T585K

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: T585K

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 possibly damaging
Transcript: ENSMUST00000114137
AA Change: T514K

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: T514K

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 possibly damaging
Transcript: ENSMUST00000211444
AA Change: T585K

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211635
Predicted Effect possibly damaging
Transcript: ENSMUST00000227986
AA Change: T600K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228188
AA Change: T600K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228034
AA Change: T600K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226447
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,814,558 (GRCm39) I140F probably benign Het
Cfap58 T C 19: 47,974,951 (GRCm39) L704P probably damaging Het
Cnnm2 T C 19: 46,865,827 (GRCm39) V805A possibly damaging Het
Dnah9 T C 11: 65,951,871 (GRCm39) E1876G probably damaging Het
Dock1 A T 7: 134,373,277 (GRCm39) E548V probably benign Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Esm1 T G 13: 113,346,630 (GRCm39) F85C probably damaging Het
Fcer1a C T 1: 173,053,071 (GRCm39) G42R probably damaging Het
Fcer1g A T 1: 171,058,760 (GRCm39) Y43N probably damaging Het
Hnf4g T C 3: 3,709,636 (GRCm39) I184T probably benign Het
Hsd11b1 G A 1: 192,904,354 (GRCm39) R282* probably null Het
Lig1 T A 7: 13,026,377 (GRCm39) probably benign Het
Or13l2 T C 3: 97,318,222 (GRCm39) K92E possibly damaging Het
Phip A G 9: 82,827,861 (GRCm39) S184P probably damaging Het
Pkhd1 C T 1: 20,592,971 (GRCm39) G1714D probably damaging Het
Plppr4 A G 3: 117,125,433 (GRCm39) probably benign Het
Prdm10 G A 9: 31,248,646 (GRCm39) R356Q probably damaging Het
Rasgrp1 C T 2: 117,131,059 (GRCm39) probably benign Het
Rpap1 C T 2: 119,613,135 (GRCm39) E138K probably benign Het
Sidt2 A C 9: 45,856,962 (GRCm39) probably null Het
Slc28a3 A G 13: 58,706,411 (GRCm39) L610P probably damaging Het
Slc39a10 T C 1: 46,858,599 (GRCm39) probably benign Het
Snx18 G A 13: 113,753,601 (GRCm39) A444V probably damaging Het
Svil A G 18: 5,092,899 (GRCm39) E1459G probably damaging Het
Tbc1d9 T C 8: 83,966,497 (GRCm39) L366P probably damaging Het
Tbk1 A T 10: 121,406,694 (GRCm39) H181Q probably damaging Het
Wrn C A 8: 33,800,777 (GRCm39) G612V probably benign Het
Xdh A G 17: 74,220,945 (GRCm39) Y595H 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
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
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 2014-05-07