Incidental Mutation 'R2336:Grik4'
ID 246553
Institutional Source Beutler Lab
Gene Symbol Grik4
Ensembl Gene ENSMUSG00000032017
Gene Name glutamate receptor, ionotropic, kainate 4
Synonyms KA1, 6330551K01Rik, GluRgamma1, KA-1
MMRRC Submission 040323-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R2336 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 42431708-42856296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42477651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 512 (D512N)
Ref Sequence ENSEMBL: ENSMUSP00000110515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034515] [ENSMUST00000114865]
AlphaFold Q8BMF5
Predicted Effect probably damaging
Transcript: ENSMUST00000034515
AA Change: D512N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017
AA Change: D512N

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 damaging
Transcript: ENSMUST00000114865
AA Change: D512N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110515
Gene: ENSMUSG00000032017
AA Change: D512N

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
Meta Mutation Damage Score 0.7675 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (38/38)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik T A 1: 181,055,206 (GRCm39) noncoding transcript Het
Arhgap21 G A 2: 20,884,862 (GRCm39) R772C probably damaging Het
Arid2 A G 15: 96,260,430 (GRCm39) E393G probably damaging Het
Atrn C T 2: 130,799,874 (GRCm39) T417I probably damaging Het
Baiap3 T C 17: 25,469,378 (GRCm39) K173R probably damaging Het
Bdp1 A T 13: 100,189,510 (GRCm39) N1497K probably damaging Het
Ceacam5 T C 7: 17,481,300 (GRCm39) V349A probably benign Het
Chrnd T C 1: 87,122,615 (GRCm39) F132S probably damaging Het
Ddx42 A G 11: 106,121,976 (GRCm39) M164V possibly damaging Het
Dtwd2 A G 18: 49,833,320 (GRCm39) probably benign Het
Eprs1 T A 1: 185,143,571 (GRCm39) probably benign Het
Fut8 A G 12: 77,459,730 (GRCm39) probably benign Het
Gabrr3 C T 16: 59,250,313 (GRCm39) T104M probably damaging Het
Gcat G A 15: 78,915,180 (GRCm39) R16H probably benign Het
Gnb2 A T 5: 137,527,460 (GRCm39) W125R probably damaging Het
Hnf4g T C 3: 3,706,284 (GRCm39) F60L probably benign Het
Lrp6 A G 6: 134,484,546 (GRCm39) I359T probably damaging Het
Lrrfip2 A G 9: 111,051,283 (GRCm39) D325G probably damaging Het
Mttp A T 3: 137,821,856 (GRCm39) I222K possibly damaging Het
Myom1 A T 17: 71,330,189 (GRCm39) H107L possibly damaging Het
Obi1 G A 14: 104,716,318 (GRCm39) P685L probably damaging Het
Or10al4 A T 17: 38,037,689 (GRCm39) Y258F probably benign Het
Or2r11 A G 6: 42,437,663 (GRCm39) C97R probably damaging Het
Ppfia3 T C 7: 45,006,121 (GRCm39) probably null Het
Prokr2 A T 2: 132,223,359 (GRCm39) M61K probably damaging Het
Ptk2 A G 15: 73,137,965 (GRCm39) C502R probably damaging Het
Rbm25 T A 12: 83,698,192 (GRCm39) W172R probably damaging Het
Rdh16f1 A G 10: 127,624,624 (GRCm39) K154R probably benign Het
Rnf213 G A 11: 119,305,430 (GRCm39) E554K probably benign Het
St3gal6 A T 16: 58,314,067 (GRCm39) I22K probably damaging Het
Tut7 G T 13: 59,946,868 (GRCm39) P585Q probably damaging Het
Usp43 G A 11: 67,782,258 (GRCm39) R387* probably null Het
Vmn2r106 T C 17: 20,488,470 (GRCm39) N643S probably benign Het
Zdbf2 G T 1: 63,342,623 (GRCm39) R334L probably benign Het
Zfp868 G T 8: 70,066,558 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- AATAGCCCAGCGCATTTGC -3'
(R):5'- AGAAAACATGGATCCCAGCTTC -3'

Sequencing Primer
(F):5'- TAGCCCAGCGCATTTGCATTTAAG -3'
(R):5'- TCCACATGGGTCCTTCTGAGAG -3'
Posted On 2014-10-30