Incidental Mutation 'IGL02817:Grik4'
ID 360851
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grik4
Ensembl Gene ENSMUSG00000032017
Gene Name glutamate receptor, ionotropic, kainate 4
Synonyms KA1, 6330551K01Rik, GluRgamma1, KA-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02817
Quality Score
Status
Chromosome 9
Chromosomal Location 42431708-42856296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42534235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 349 (N349S)
Ref Sequence ENSEMBL: ENSMUSP00000110515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034515] [ENSMUST00000114865]
AlphaFold Q8BMF5
Predicted Effect probably benign
Transcript: ENSMUST00000034515
AA Change: N349S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017
AA Change: N349S

DomainStartEndE-ValueType
Pfam:ANF_receptor 41 382 2.7e-60 PFAM
PBPe 417 786 1.88e-132 SMART
Lig_chan-Glu_bd 427 491 5.91e-31 SMART
transmembrane domain 805 827 N/A INTRINSIC
low complexity region 900 913 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114865
AA Change: N349S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110515
Gene: ENSMUSG00000032017
AA Change: N349S

DomainStartEndE-ValueType
Pfam:ANF_receptor 41 382 5.1e-66 PFAM
PBPe 417 786 1.88e-132 SMART
Lig_chan-Glu_bd 427 491 5.91e-31 SMART
transmembrane domain 805 827 N/A INTRINSIC
low complexity region 900 913 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced GYKI-resistant excitatory postsynaptic current. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 A G 2: 34,990,661 (GRCm39) V12A probably damaging Het
Ash1l C A 3: 88,892,108 (GRCm39) P1329H probably damaging Het
Bpifb3 T C 2: 153,761,566 (GRCm39) V5A unknown Het
Cep350 A G 1: 155,804,588 (GRCm39) S832P probably damaging Het
Chd1 A T 17: 15,969,762 (GRCm39) H947L possibly damaging Het
Clec4b1 A T 6: 123,045,444 (GRCm39) H88L possibly damaging Het
Col4a1 A G 8: 11,270,259 (GRCm39) L859P probably damaging Het
Cyp2f2 T A 7: 26,828,740 (GRCm39) N203K probably damaging Het
Dgka G A 10: 128,566,097 (GRCm39) T351I probably benign Het
Dmc1 G A 15: 79,472,964 (GRCm39) T161I probably damaging Het
Dnah8 A G 17: 30,887,269 (GRCm39) N688D probably benign Het
Dpy19l3 A G 7: 35,392,233 (GRCm39) L653P probably damaging Het
Drc3 A G 11: 60,275,062 (GRCm39) E341G probably benign Het
Fcrl5 T G 3: 87,343,220 (GRCm39) V10G probably benign Het
Fgfr4 T C 13: 55,304,481 (GRCm39) probably null Het
Gli2 T C 1: 118,764,101 (GRCm39) H1350R possibly damaging Het
Gm3248 A G 14: 5,945,825 (GRCm38) S30P probably benign Het
Ifnar2 G T 16: 91,184,880 (GRCm39) K90N probably benign Het
Kcp A T 6: 29,496,968 (GRCm39) I547N probably damaging Het
L3mbtl4 A T 17: 68,937,249 (GRCm39) E423D probably benign Het
Mapkap1 T C 2: 34,453,130 (GRCm39) L341P probably damaging Het
Mdm1 A G 10: 118,000,251 (GRCm39) Q618R possibly damaging Het
Medag A T 5: 149,350,503 (GRCm39) R51* probably null Het
Myo1f G A 17: 33,823,532 (GRCm39) R1020K probably benign Het
Myrf T C 19: 10,202,816 (GRCm39) N153D probably benign Het
Naf1 T C 8: 67,336,177 (GRCm39) I368T probably damaging Het
Nalf1 A T 8: 9,257,994 (GRCm39) C385S probably damaging Het
Ncapd2 A G 6: 125,147,877 (GRCm39) probably null Het
Nsfl1c T A 2: 151,342,651 (GRCm39) S74T probably damaging Het
Or2a51 A T 6: 43,178,993 (GRCm39) R138S probably benign Het
Or6c68 A G 10: 129,157,764 (GRCm39) T91A probably benign Het
Or8h7 T C 2: 86,720,937 (GRCm39) N194S probably benign Het
Ptgfrn T A 3: 100,968,068 (GRCm39) E508D probably benign Het
Ryr3 C A 2: 112,674,968 (GRCm39) probably null Het
Snx27 A G 3: 94,410,770 (GRCm39) L460P probably damaging Het
Sp4 G T 12: 118,263,287 (GRCm39) T253K probably damaging Het
Trio T C 15: 27,902,967 (GRCm39) I165V probably benign Het
Txnl4b A G 8: 110,299,478 (GRCm39) Y146C probably damaging Het
Vmn1r42 A G 6: 89,822,518 (GRCm39) M17T probably damaging Het
Zer1 T C 2: 29,993,406 (GRCm39) I567V probably damaging Het
Other mutations in Grik4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Grik4 APN 9 42,432,472 (GRCm39) missense probably damaging 0.99
IGL01929:Grik4 APN 9 42,477,594 (GRCm39) critical splice donor site probably null
IGL02049:Grik4 APN 9 42,455,049 (GRCm39) splice site probably benign
IGL02331:Grik4 APN 9 42,453,284 (GRCm39) missense probably damaging 1.00
IGL02652:Grik4 APN 9 42,586,573 (GRCm39) missense possibly damaging 0.94
IGL02945:Grik4 APN 9 42,509,175 (GRCm39) missense possibly damaging 0.92
IGL03100:Grik4 APN 9 42,461,751 (GRCm39) missense probably damaging 0.99
IGL03168:Grik4 APN 9 42,582,539 (GRCm39) missense probably damaging 1.00
R0420:Grik4 UTSW 9 42,533,392 (GRCm39) nonsense probably null
R0894:Grik4 UTSW 9 42,599,405 (GRCm39) splice site probably benign
R1458:Grik4 UTSW 9 42,432,418 (GRCm39) missense probably benign 0.21
R1502:Grik4 UTSW 9 42,502,743 (GRCm39) missense probably benign 0.03
R1502:Grik4 UTSW 9 42,432,169 (GRCm39) missense probably damaging 0.97
R1808:Grik4 UTSW 9 42,540,322 (GRCm39) missense probably benign 0.19
R1945:Grik4 UTSW 9 42,432,300 (GRCm39) missense possibly damaging 0.79
R2180:Grik4 UTSW 9 42,453,301 (GRCm39) missense probably benign 0.45
R2203:Grik4 UTSW 9 42,458,951 (GRCm39) missense probably damaging 1.00
R2336:Grik4 UTSW 9 42,477,651 (GRCm39) missense probably damaging 1.00
R2508:Grik4 UTSW 9 42,533,438 (GRCm39) missense probably damaging 1.00
R2890:Grik4 UTSW 9 42,582,515 (GRCm39) missense probably damaging 1.00
R3702:Grik4 UTSW 9 42,586,514 (GRCm39) missense probably damaging 0.97
R3834:Grik4 UTSW 9 42,540,419 (GRCm39) missense probably benign 0.04
R4082:Grik4 UTSW 9 42,509,180 (GRCm39) missense probably benign 0.00
R4604:Grik4 UTSW 9 42,435,882 (GRCm39) missense probably damaging 1.00
R4711:Grik4 UTSW 9 42,540,389 (GRCm39) missense probably damaging 1.00
R5417:Grik4 UTSW 9 42,582,544 (GRCm39) missense probably benign 0.45
R5540:Grik4 UTSW 9 42,432,243 (GRCm39) missense probably damaging 0.99
R5680:Grik4 UTSW 9 42,540,415 (GRCm39) missense probably benign
R5740:Grik4 UTSW 9 42,719,863 (GRCm39) missense possibly damaging 0.88
R5876:Grik4 UTSW 9 42,599,319 (GRCm39) missense probably damaging 1.00
R5911:Grik4 UTSW 9 42,502,720 (GRCm39) missense probably damaging 1.00
R6319:Grik4 UTSW 9 42,477,632 (GRCm39) missense probably damaging 1.00
R6475:Grik4 UTSW 9 42,540,304 (GRCm39) missense probably benign 0.01
R6544:Grik4 UTSW 9 42,459,024 (GRCm39) nonsense probably null
R7065:Grik4 UTSW 9 42,455,127 (GRCm39) missense probably damaging 1.00
R7278:Grik4 UTSW 9 42,533,356 (GRCm39) missense probably benign 0.25
R7605:Grik4 UTSW 9 42,599,367 (GRCm39) missense probably damaging 1.00
R7984:Grik4 UTSW 9 42,582,557 (GRCm39) nonsense probably null
R8786:Grik4 UTSW 9 42,453,130 (GRCm39) missense probably damaging 1.00
R9104:Grik4 UTSW 9 42,571,168 (GRCm39) missense probably damaging 1.00
R9443:Grik4 UTSW 9 42,571,037 (GRCm39) missense probably benign 0.02
R9615:Grik4 UTSW 9 42,502,765 (GRCm39) nonsense probably null
X0028:Grik4 UTSW 9 42,586,523 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18