Incidental Mutation 'R8922:Grik1'
ID 679366
Institutional Source Beutler Lab
Gene Symbol Grik1
Ensembl Gene ENSMUSG00000022935
Gene Name glutamate receptor, ionotropic, kainate 1
Synonyms Glur-5, GluK5, A830007B11Rik, Glurbeta1, D16Ium24, D16Ium24e, Glur5
MMRRC Submission 068767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8922 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 87692788-88087153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 87693167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 879 (S879A)
Ref Sequence ENSEMBL: ENSMUSP00000023652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023652] [ENSMUST00000072256] [ENSMUST00000227986] [ENSMUST00000228034] [ENSMUST00000228188]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000023652
AA Change: S879A
SMART Domains Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: S879A

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 unknown
Transcript: ENSMUST00000072256
AA Change: S908A
SMART Domains Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: S908A

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 benign
Transcript: ENSMUST00000227986
AA Change: S923A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000228034
Predicted Effect probably benign
Transcript: ENSMUST00000228188
AA Change: S894A

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (78/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik A G 8: 88,295,177 (GRCm39) D105G possibly damaging Het
Abhd14b T C 9: 106,328,835 (GRCm39) probably null Het
Acot1 C T 12: 84,064,085 (GRCm39) Q398* probably null Het
Adam26b A T 8: 43,973,216 (GRCm39) D595E probably damaging Het
Aldh1l1 T A 6: 90,536,256 (GRCm39) F54I probably damaging Het
Arhgap33 C T 7: 30,223,417 (GRCm39) E871K probably damaging Het
Aspg A T 12: 112,089,830 (GRCm39) D456V possibly damaging Het
Cacna1b A C 2: 24,622,340 (GRCm39) S215A possibly damaging Het
Car3 A T 3: 14,931,952 (GRCm39) T108S Het
Ccdc91 C T 6: 147,412,358 (GRCm39) Q23* probably null Het
Cd300lg A T 11: 101,945,028 (GRCm39) I413F probably damaging Het
Ces2h T A 8: 105,744,756 (GRCm39) M378K probably benign Het
Cfap44 C T 16: 44,272,030 (GRCm39) T1261I probably benign Het
Cir1 G A 2: 73,118,053 (GRCm39) S164L possibly damaging Het
Clasp2 A T 9: 113,725,728 (GRCm39) K790* probably null Het
Cpne8 A T 15: 90,456,213 (GRCm39) D183E probably damaging Het
Dhrs13 A G 11: 77,923,425 (GRCm39) I48V possibly damaging Het
Dpp8 G T 9: 64,981,793 (GRCm39) V692L probably benign Het
Exoc2 A T 13: 31,055,838 (GRCm39) I660N probably benign Het
Exosc5 T C 7: 25,363,673 (GRCm39) V88A probably benign Het
Extl3 G A 14: 65,292,255 (GRCm39) T856I probably damaging Het
Flnc T C 6: 29,456,835 (GRCm39) V2277A probably damaging Het
Frmd8 A G 19: 5,923,295 (GRCm39) I52T probably benign Het
Gm8947 C T 1: 151,068,655 (GRCm39) R163C probably benign Het
Golga7 A T 8: 23,740,288 (GRCm39) C81S probably damaging Het
Helz A G 11: 107,539,985 (GRCm39) T1002A possibly damaging Het
Hes1 T A 16: 29,884,725 (GRCm39) L62* probably null Het
Hmgn2-ps A G 8: 73,058,953 (GRCm39) S25P probably benign Het
Hnrnpdl A T 5: 100,184,419 (GRCm39) Y371* probably null Het
Ifna11 T C 4: 88,738,431 (GRCm39) V79A probably benign Het
Itga4 A G 2: 79,085,938 (GRCm39) probably benign Het
Kap T C 6: 133,827,054 (GRCm39) I110V probably benign Het
Lmbrd2 A G 15: 9,172,231 (GRCm39) K342E probably damaging Het
Lrba A G 3: 86,263,973 (GRCm39) D1549G probably damaging Het
Luzp1 C T 4: 136,270,233 (GRCm39) H819Y probably damaging Het
Mmp21 T A 7: 133,276,000 (GRCm39) probably benign Het
Mto1 T C 9: 78,377,928 (GRCm39) V590A probably benign Het
Myom3 T C 4: 135,492,222 (GRCm39) L122P probably damaging Het
Nat10 T C 2: 103,582,938 (GRCm39) Y161C probably damaging Het
Ncor2 A G 5: 125,163,939 (GRCm39) V197A unknown Het
Opn4 A C 14: 34,314,955 (GRCm39) S439R probably benign Het
Or12j3 T A 7: 139,953,389 (GRCm39) I45F possibly damaging Het
Or4c3d C A 2: 89,882,695 (GRCm39) probably benign Het
Or56a41 C A 7: 104,740,469 (GRCm39) V126L probably benign Het
Or5b12b A G 19: 12,861,458 (GRCm39) Y71C probably damaging Het
Or5p75-ps1 T A 7: 108,107,957 (GRCm39) D231E unknown Het
Pik3c2a G T 7: 116,017,659 (GRCm39) Q33K probably damaging Het
Pm20d1 G T 1: 131,728,853 (GRCm39) S93I possibly damaging Het
Pou3f1 C T 4: 124,552,176 (GRCm39) A226V possibly damaging Het
Ppl T C 16: 4,923,815 (GRCm39) E191G probably benign Het
Prkag1 T C 15: 98,712,147 (GRCm39) T208A probably benign Het
Rb1cc1 T C 1: 6,319,194 (GRCm39) I871T probably benign Het
Rhd T C 4: 134,612,627 (GRCm39) S293P probably damaging Het
Rprd2 G T 3: 95,687,896 (GRCm39) T252K probably damaging Het
Scn5a C A 9: 119,363,766 (GRCm39) R458L probably benign Het
Scrib C T 15: 75,933,587 (GRCm39) probably null Het
Sec24d G A 3: 123,144,488 (GRCm39) G655E probably damaging Het
Serpine3 A G 14: 62,910,503 (GRCm39) R199G probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Slc44a1 A G 4: 53,544,545 (GRCm39) K419E probably damaging Het
Speer4a3 C T 5: 26,156,594 (GRCm39) M128I possibly damaging Het
Styxl1 T C 5: 135,776,634 (GRCm39) E318G probably benign Het
Tcstv2a A G 13: 120,725,666 (GRCm39) E110G probably benign Het
Tesmin A G 19: 3,454,163 (GRCm39) K346E probably damaging Het
Thpo A T 16: 20,547,680 (GRCm39) L6Q unknown Het
Tlr2 T A 3: 83,745,075 (GRCm39) E336V probably benign Het
Tmem167b A G 3: 108,467,541 (GRCm39) L35P probably benign Het
Topaz1 A T 9: 122,625,101 (GRCm39) E1395D possibly damaging Het
Trim29 G T 9: 43,233,636 (GRCm39) R434L possibly damaging Het
Trim68 T C 7: 102,327,550 (GRCm39) I468V probably benign Het
Ttn C A 2: 76,542,628 (GRCm39) V33453F probably benign Het
Ubac1 A T 2: 25,896,621 (GRCm39) V298D probably damaging Het
Vmn1r185 C A 7: 26,310,825 (GRCm39) V227F probably damaging Het
Vmn1r21 T A 6: 57,820,829 (GRCm39) H205L probably damaging Het
Zbtb16 A G 9: 48,743,857 (GRCm39) Y152H probably benign Het
Zbtb20 A T 16: 43,397,968 (GRCm39) N19I probably damaging Het
Zfp438 A G 18: 5,213,422 (GRCm39) M512T possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTGGAAACATATCTCCTGTTCC -3'
(R):5'- GAGCTAACTTACTGCCTCAGTTTC -3'

Sequencing Primer
(F):5'- CTCAGAAATCTGTCCTCCAAATATG -3'
(R):5'- CCTTAAGTATAAAATACAGGTGGCC -3'
Posted On 2021-08-02