Incidental Mutation 'R5417:Grik4'
ID 427789
Institutional Source Beutler Lab
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 # R5417 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 42431708-42856296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42582544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 134 (F134S)
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: F134S

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017
AA Change: F134S

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: F134S

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110515
Gene: ENSMUSG00000032017
AA Change: F134S

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A G 15: 76,619,301 (GRCm39) V761A possibly damaging Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cfap65 T C 1: 74,964,259 (GRCm39) E563G probably damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Col17a1 C A 19: 47,650,829 (GRCm39) G732C probably damaging Het
Cped1 A G 6: 22,233,579 (GRCm39) I812V probably null Het
Dennd1c CCGCCCCTCGCTGACAGC CC 17: 57,373,755 (GRCm39) probably null Het
Dgkg A T 16: 22,407,081 (GRCm39) M168K possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dolpp1 T C 2: 30,286,249 (GRCm39) L18P probably damaging Het
Eif3e A T 15: 43,128,917 (GRCm39) D234E probably benign Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Fbxw10 G A 11: 62,767,990 (GRCm39) R942Q possibly damaging Het
Flvcr2 T G 12: 85,793,965 (GRCm39) F114V probably damaging Het
Gm14443 A T 2: 175,011,796 (GRCm39) C217S probably damaging Het
Gphb5 A T 12: 75,459,746 (GRCm39) V83E possibly damaging Het
Gpsm1 T C 2: 26,214,045 (GRCm39) probably null Het
Ibsp G A 5: 104,458,335 (GRCm39) E291K possibly damaging Het
Igfals T G 17: 25,099,290 (GRCm39) L127R probably damaging Het
Igsf9b CGGCCCCGGCCCAG CGGCCCCGGCCCAGGCCCCGGCCCAG 9: 27,245,572 (GRCm39) probably benign Het
Iqcf3 T A 9: 106,431,413 (GRCm39) D63V probably damaging Het
Klc4 A G 17: 46,942,957 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mapk8ip2 C A 15: 89,341,642 (GRCm39) D284E probably benign Het
Muc5b A T 7: 141,411,781 (GRCm39) T1576S unknown Het
Nlrp3 G A 11: 59,439,889 (GRCm39) G489S probably damaging Het
Nr5a1 T A 2: 38,598,098 (GRCm39) Q233L possibly damaging Het
Nusap1 G A 2: 119,477,624 (GRCm39) V345I probably damaging Het
Or10q1 A G 19: 13,727,217 (GRCm39) H249R probably benign Het
Or4k51 A G 2: 111,585,265 (GRCm39) T224A possibly damaging Het
Or51aa2 A T 7: 103,187,970 (GRCm39) V157E possibly damaging Het
Oxr1 A G 15: 41,683,767 (GRCm39) T378A probably benign Het
Pcdhb12 T C 18: 37,569,087 (GRCm39) F78L probably benign Het
Pgm2l1 A T 7: 99,921,583 (GRCm39) I605L probably benign Het
Pik3c2g A G 6: 139,682,669 (GRCm39) I17V probably benign Het
Prss39 A G 1: 34,539,209 (GRCm39) S150G probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scg3 T A 9: 75,576,538 (GRCm39) Y279F probably benign Het
Skic2 C T 17: 35,065,574 (GRCm39) V327I probably damaging Het
Srfbp1 T C 18: 52,621,697 (GRCm39) C253R probably benign Het
Tcirg1 C T 19: 3,953,509 (GRCm39) probably null Het
Trim37 A G 11: 87,057,505 (GRCm39) Y313C probably damaging Het
Ttll9 A T 2: 152,844,912 (GRCm39) M427L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp5 A G 7: 55,475,409 (GRCm39) R932G possibly 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
IGL02817:Grik4 APN 9 42,534,235 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ATTCCTGGGTTGTTGCAAGC -3'
(R):5'- AGGTCCCGAATGCTGCTTTC -3'

Sequencing Primer
(F):5'- TGGGTGCCCATAGCCTAGTAG -3'
(R):5'- CCCCTTGGTGTGTGTCAAAG -3'
Posted On 2016-09-01