Incidental Mutation 'R7536:Gria4'
ID 583601
Institutional Source Beutler Lab
Gene Symbol Gria4
Ensembl Gene ENSMUSG00000025892
Gene Name glutamate receptor, ionotropic, AMPA4 (alpha 4)
Synonyms Glur-4, spkw1, Gluralpha4, Glur4
MMRRC Submission 045608-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.690) question?
Stock # R7536 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 4417896-4796234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4464298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 555 (Y555D)
Ref Sequence ENSEMBL: ENSMUSP00000066980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027020] [ENSMUST00000063508] [ENSMUST00000212533]
AlphaFold Q9Z2W8
Predicted Effect probably damaging
Transcript: ENSMUST00000027020
AA Change: Y555D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: Y555D

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:ANF_receptor 39 380 3e-61 PFAM
PBPe 416 791 8.23e-129 SMART
Lig_chan-Glu_bd 426 491 3.4e-31 SMART
low complexity region 821 833 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000063508
AA Change: Y555D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: Y555D

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:ANF_receptor 39 380 2.5e-71 PFAM
PBPe 416 791 2.06e-129 SMART
Lig_chan-Glu_bd 426 491 3.4e-31 SMART
low complexity region 821 833 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000212533
AA Change: Y555D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display hyperactivity, decreased thermal nociception, and abnormal sensitivity to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
AI597479 C G 1: 43,150,505 (GRCm39) A205G possibly damaging Het
Akr1c14 T A 13: 4,113,690 (GRCm39) V74E probably damaging Het
Armh4 G T 14: 50,011,703 (GRCm39) probably null Het
Bbs9 A T 9: 22,582,096 (GRCm39) Q596L probably damaging Het
Bub3 A G 7: 131,170,432 (GRCm39) D318G probably damaging Het
Cela1 A G 15: 100,573,245 (GRCm39) V248A probably damaging Het
Cer1 C A 4: 82,803,205 (GRCm39) R39L probably benign Het
Clec16a A G 16: 10,456,708 (GRCm39) T624A possibly damaging Het
Coro1c C A 5: 113,983,350 (GRCm39) G393W probably damaging Het
Crym A G 7: 119,800,331 (GRCm39) L97P probably damaging Het
Cyp2a5 T G 7: 26,539,903 (GRCm39) L317R probably damaging Het
Cyp2j6 C A 4: 96,423,774 (GRCm39) G198V probably damaging Het
Dnajb6 A G 5: 29,962,804 (GRCm39) E238G possibly damaging Het
Dnhd1 C A 7: 105,358,768 (GRCm39) T3419K probably damaging Het
Dpep3 A T 8: 106,704,032 (GRCm39) I262K probably damaging Het
Dscam T G 16: 96,442,226 (GRCm39) probably null Het
Farsb A G 1: 78,420,391 (GRCm39) V500A possibly damaging Het
Fbxl20 A T 11: 97,986,209 (GRCm39) C136* probably null Het
Fbxo43 G T 15: 36,161,997 (GRCm39) D403E probably benign Het
Frem1 A G 4: 82,874,432 (GRCm39) S1397P probably damaging Het
Fut8 A G 12: 77,521,852 (GRCm39) Y497C probably damaging Het
Gbp3 A T 3: 142,272,156 (GRCm39) R219S probably damaging Het
Gm14295 T A 2: 176,502,722 (GRCm39) H737Q possibly damaging Het
Gpr89 C A 3: 96,798,209 (GRCm39) R149L probably damaging Het
Greb1 A T 12: 16,732,186 (GRCm39) Y1592N probably damaging Het
Hspa1b T A 17: 35,177,851 (GRCm39) T45S possibly damaging Het
Kif5b A T 18: 6,216,235 (GRCm39) N571K probably benign Het
Mapkbp1 T A 2: 119,849,066 (GRCm39) M694K probably damaging Het
Med24 G A 11: 98,603,447 (GRCm39) H439Y possibly damaging Het
Mgl2 G T 11: 70,027,833 (GRCm39) R347L probably benign Het
Mms22l T A 4: 24,581,240 (GRCm39) L850Q probably damaging Het
Mrpl51 T C 6: 125,169,530 (GRCm39) V44A possibly damaging Het
Mylk3 T C 8: 86,080,233 (GRCm39) I485V probably benign Het
Or10ag54 C T 2: 87,099,943 (GRCm39) Q273* probably null Het
Or7e174 C A 9: 20,012,826 (GRCm39) T257K probably damaging Het
Pde4dip A G 3: 97,664,560 (GRCm39) L434P probably damaging Het
Pla2g4a T C 1: 149,755,768 (GRCm39) Y223C probably damaging Het
Plcl1 C T 1: 55,752,640 (GRCm39) Q995* probably null Het
Pls1 C T 9: 95,644,110 (GRCm39) C462Y probably damaging Het
Ppp6r3 T C 19: 3,557,341 (GRCm39) E249G possibly damaging Het
Prb1a T A 6: 132,184,184 (GRCm39) N483I unknown Het
R3hdm1 A G 1: 128,109,948 (GRCm39) probably null Het
Rasgrp3 T C 17: 75,821,128 (GRCm39) F445S probably damaging Het
Rnf39 G T 17: 37,254,009 (GRCm39) L10F probably damaging Het
Rnh1 T C 7: 140,740,725 (GRCm39) D410G possibly damaging Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sh3bp2 A G 5: 34,700,901 (GRCm39) T35A probably benign Het
Skint6 T A 4: 112,668,744 (GRCm39) probably null Het
Slc13a1 A T 6: 24,100,330 (GRCm39) D384E probably damaging Het
Slc27a6 A G 18: 58,689,698 (GRCm39) T55A probably damaging Het
Slc46a2 G A 4: 59,914,141 (GRCm39) Q261* probably null Het
Spata31d1e C T 13: 59,889,556 (GRCm39) V755M probably damaging Het
St7 C G 6: 17,886,019 (GRCm39) P327R probably damaging Het
Stx1a T C 5: 135,078,694 (GRCm39) I268T probably damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmem144 A T 3: 79,734,964 (GRCm39) N151K probably benign Het
Tmem145 T C 7: 25,007,294 (GRCm39) S171P probably damaging Het
Traf2 A G 2: 25,427,118 (GRCm39) Y78H possibly damaging Het
Tsc22d1 A G 14: 76,742,203 (GRCm39) Y16C probably benign Het
Ttc39b A T 4: 83,158,215 (GRCm39) Y503* probably null Het
Ttn T C 2: 76,547,681 (GRCm39) D32163G probably benign Het
Uba6 A T 5: 86,272,191 (GRCm39) S833T probably benign Het
Wdtc1 A G 4: 133,022,561 (GRCm39) L595P probably damaging Het
Other mutations in Gria4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Gria4 APN 9 4,472,202 (GRCm39) missense probably damaging 0.98
IGL01451:Gria4 APN 9 4,503,652 (GRCm39) missense probably benign 0.04
IGL01533:Gria4 APN 9 4,502,395 (GRCm39) missense probably damaging 1.00
IGL01994:Gria4 APN 9 4,537,726 (GRCm39) missense probably damaging 1.00
IGL02078:Gria4 APN 9 4,793,878 (GRCm39) missense probably damaging 0.98
IGL02183:Gria4 APN 9 4,502,460 (GRCm39) missense probably damaging 1.00
IGL02351:Gria4 APN 9 4,456,206 (GRCm39) missense possibly damaging 0.84
IGL02358:Gria4 APN 9 4,456,206 (GRCm39) missense possibly damaging 0.84
IGL03118:Gria4 APN 9 4,793,804 (GRCm39) splice site probably benign
IGL03131:Gria4 APN 9 4,432,876 (GRCm39) missense probably damaging 0.96
IGL03148:Gria4 APN 9 4,464,295 (GRCm39) missense possibly damaging 0.91
IGL03264:Gria4 APN 9 4,513,288 (GRCm39) missense probably benign
PIT4812001:Gria4 UTSW 9 4,427,128 (GRCm39) missense probably damaging 1.00
R0018:Gria4 UTSW 9 4,432,843 (GRCm39) missense possibly damaging 0.71
R0295:Gria4 UTSW 9 4,793,840 (GRCm39) missense possibly damaging 0.69
R0654:Gria4 UTSW 9 4,464,372 (GRCm39) missense probably benign 0.32
R0690:Gria4 UTSW 9 4,427,071 (GRCm39) missense probably damaging 1.00
R0992:Gria4 UTSW 9 4,795,238 (GRCm39) missense probably benign
R1517:Gria4 UTSW 9 4,793,865 (GRCm39) missense probably damaging 1.00
R1673:Gria4 UTSW 9 4,537,637 (GRCm39) nonsense probably null
R1713:Gria4 UTSW 9 4,424,448 (GRCm39) missense probably benign 0.20
R1961:Gria4 UTSW 9 4,519,546 (GRCm39) splice site probably benign
R2137:Gria4 UTSW 9 4,427,026 (GRCm39) intron probably benign
R2397:Gria4 UTSW 9 4,537,717 (GRCm39) missense probably damaging 1.00
R2870:Gria4 UTSW 9 4,503,614 (GRCm39) missense probably damaging 0.96
R2870:Gria4 UTSW 9 4,503,614 (GRCm39) missense probably damaging 0.96
R3014:Gria4 UTSW 9 4,464,294 (GRCm39) missense probably damaging 0.97
R3412:Gria4 UTSW 9 4,513,278 (GRCm39) missense probably benign 0.00
R3732:Gria4 UTSW 9 4,513,295 (GRCm39) missense probably benign
R3732:Gria4 UTSW 9 4,513,295 (GRCm39) missense probably benign
R3733:Gria4 UTSW 9 4,513,295 (GRCm39) missense probably benign
R3897:Gria4 UTSW 9 4,513,260 (GRCm39) missense probably damaging 1.00
R4404:Gria4 UTSW 9 4,464,489 (GRCm39) splice site probably null
R4457:Gria4 UTSW 9 4,427,074 (GRCm39) missense probably damaging 1.00
R4672:Gria4 UTSW 9 4,664,981 (GRCm39) missense possibly damaging 0.96
R4865:Gria4 UTSW 9 4,464,295 (GRCm39) missense possibly damaging 0.91
R5092:Gria4 UTSW 9 4,472,176 (GRCm39) missense probably benign 0.01
R5109:Gria4 UTSW 9 4,472,168 (GRCm39) missense probably damaging 1.00
R5202:Gria4 UTSW 9 4,424,330 (GRCm39) missense probably benign 0.10
R5828:Gria4 UTSW 9 4,432,832 (GRCm39) missense probably damaging 1.00
R5945:Gria4 UTSW 9 4,456,122 (GRCm39) missense probably damaging 1.00
R5985:Gria4 UTSW 9 4,503,593 (GRCm39) missense probably damaging 0.99
R6036:Gria4 UTSW 9 4,537,646 (GRCm39) missense probably benign 0.00
R6036:Gria4 UTSW 9 4,537,646 (GRCm39) missense probably benign 0.00
R6111:Gria4 UTSW 9 4,502,430 (GRCm39) missense probably damaging 1.00
R6190:Gria4 UTSW 9 4,420,199 (GRCm39) missense probably benign
R6280:Gria4 UTSW 9 4,456,072 (GRCm39) missense probably damaging 1.00
R6406:Gria4 UTSW 9 4,427,077 (GRCm39) missense probably damaging 1.00
R6470:Gria4 UTSW 9 4,503,680 (GRCm39) missense probably damaging 1.00
R6485:Gria4 UTSW 9 4,464,249 (GRCm39) missense probably damaging 1.00
R6612:Gria4 UTSW 9 4,472,206 (GRCm39) missense possibly damaging 0.93
R6848:Gria4 UTSW 9 4,793,822 (GRCm39) missense probably damaging 1.00
R7046:Gria4 UTSW 9 4,420,278 (GRCm39) missense probably damaging 0.97
R7210:Gria4 UTSW 9 4,464,135 (GRCm39) missense probably damaging 1.00
R7284:Gria4 UTSW 9 4,472,017 (GRCm39) missense probably damaging 1.00
R7475:Gria4 UTSW 9 4,513,330 (GRCm39) missense probably damaging 1.00
R7501:Gria4 UTSW 9 4,502,436 (GRCm39) missense probably benign 0.01
R7604:Gria4 UTSW 9 4,464,315 (GRCm39) missense probably damaging 1.00
R7643:Gria4 UTSW 9 4,793,950 (GRCm39) missense probably benign 0.00
R7669:Gria4 UTSW 9 4,462,029 (GRCm39) missense probably damaging 1.00
R7703:Gria4 UTSW 9 4,503,588 (GRCm39) missense probably benign
R7720:Gria4 UTSW 9 4,464,288 (GRCm39) missense probably damaging 1.00
R7724:Gria4 UTSW 9 4,472,074 (GRCm39) missense probably damaging 1.00
R7909:Gria4 UTSW 9 4,464,450 (GRCm39) missense probably damaging 1.00
R8007:Gria4 UTSW 9 4,503,740 (GRCm39) splice site probably benign
R8044:Gria4 UTSW 9 4,456,216 (GRCm39) missense probably damaging 1.00
R8062:Gria4 UTSW 9 4,480,273 (GRCm39) missense possibly damaging 0.54
R8131:Gria4 UTSW 9 4,502,429 (GRCm39) missense probably benign 0.16
R8212:Gria4 UTSW 9 4,480,242 (GRCm39) missense probably benign
R8478:Gria4 UTSW 9 4,793,882 (GRCm39) missense probably damaging 1.00
R8699:Gria4 UTSW 9 4,424,351 (GRCm39) missense probably damaging 1.00
R8699:Gria4 UTSW 9 4,424,347 (GRCm39) missense probably damaging 1.00
R8785:Gria4 UTSW 9 4,795,189 (GRCm39) missense possibly damaging 0.92
R8785:Gria4 UTSW 9 4,456,106 (GRCm39) missense probably damaging 1.00
R8888:Gria4 UTSW 9 4,664,951 (GRCm39) missense probably damaging 1.00
R8895:Gria4 UTSW 9 4,664,951 (GRCm39) missense probably damaging 1.00
R9160:Gria4 UTSW 9 4,424,412 (GRCm39) missense probably damaging 1.00
R9498:Gria4 UTSW 9 4,503,560 (GRCm39) critical splice donor site probably null
R9743:Gria4 UTSW 9 4,464,457 (GRCm39) missense probably damaging 1.00
X0023:Gria4 UTSW 9 4,427,067 (GRCm39) missense probably damaging 1.00
X0065:Gria4 UTSW 9 4,464,340 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- ACATCCTTGTTGCATAAAGGCAC -3'
(R):5'- GAAATCCACTAACTTGTGTATTCCC -3'

Sequencing Primer
(F):5'- CTTGTTGCATAAAGGCACCCAGG -3'
(R):5'- TTCTCTTGTAGAAAGCAGAGATTGCC -3'
Posted On 2019-10-17