Incidental Mutation 'R4865:Gria4'
ID 374839
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 042475-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.627) question?
Stock # R4865 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 4417896-4796234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4464295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 556 (I556F)
Ref Sequence ENSEMBL: ENSMUSP00000148533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027020] [ENSMUST00000063508] [ENSMUST00000212533]
AlphaFold Q9Z2W8
Predicted Effect possibly damaging
Transcript: ENSMUST00000027020
AA Change: I556F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: I556F

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 possibly damaging
Transcript: ENSMUST00000063508
AA Change: I556F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: I556F

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 possibly damaging
Transcript: ENSMUST00000212533
AA Change: I556F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.5921 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (86/88)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,938,157 (GRCm39) V639M probably damaging Het
Adgrf4 A G 17: 42,978,156 (GRCm39) S396P probably damaging Het
Aldh3b2 T A 19: 4,028,469 (GRCm39) I123N probably damaging Het
Aldh5a1 A G 13: 25,095,567 (GRCm39) Y517H probably damaging Het
Aph1c A C 9: 66,735,120 (GRCm39) I77S probably damaging Het
Armc8 A G 9: 99,408,942 (GRCm39) probably null Het
Atp13a5 G A 16: 29,066,912 (GRCm39) P1020L probably damaging Het
BC024139 A T 15: 76,010,266 (GRCm39) M80K possibly damaging Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cenpn A G 8: 117,661,512 (GRCm39) I204V probably damaging Het
Ces4a A T 8: 105,873,790 (GRCm39) M420L probably benign Het
Chdh T A 14: 29,755,681 (GRCm39) D322E probably benign Het
Clcn6 A T 4: 148,104,223 (GRCm39) I223N probably damaging Het
Clec4b1 A G 6: 123,045,428 (GRCm39) K50E possibly damaging Het
Creg1 T A 1: 165,597,432 (GRCm39) C135* probably null Het
Cyp4f13 C T 17: 33,144,678 (GRCm39) R411Q probably damaging Het
Dnah7b T C 1: 46,234,234 (GRCm39) F1426L probably damaging Het
Dock9 A T 14: 121,780,917 (GRCm39) *1917R probably null Het
Dync1h1 T G 12: 110,606,235 (GRCm39) L2435R possibly damaging Het
Eif3l C A 15: 78,965,849 (GRCm39) Y166* probably null Het
Emilin1 T A 5: 31,075,128 (GRCm39) N456K possibly damaging Het
Fam83f C T 15: 80,576,650 (GRCm39) R434C probably damaging Het
Fbxw9 A G 8: 85,786,785 (GRCm39) D10G possibly damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fsip2 T G 2: 82,821,295 (GRCm39) V5676G possibly damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm11596 A G 11: 99,684,064 (GRCm39) probably benign Het
Gm6522 T C 3: 106,183,286 (GRCm39) noncoding transcript Het
Gm6728 A G 6: 136,464,072 (GRCm39) noncoding transcript Het
Grp A T 18: 66,013,041 (GRCm39) D69V probably damaging Het
Gucy1a1 G T 3: 82,026,469 (GRCm39) probably benign Het
Haus5 A T 7: 30,357,980 (GRCm39) L376Q probably damaging Het
Ifne A T 4: 88,797,942 (GRCm39) Y159N probably damaging Het
Ift80 A G 3: 68,898,092 (GRCm39) V81A probably benign Het
Inpp5b T C 4: 124,645,288 (GRCm39) V192A probably benign Het
Kcnh4 A G 11: 100,640,569 (GRCm39) S486P probably damaging Het
Kif5b A G 18: 6,222,912 (GRCm39) probably benign Het
Macf1 T A 4: 123,327,096 (GRCm39) E4800D probably damaging Het
Mblac2 C T 13: 81,860,095 (GRCm39) Q150* probably null Het
Mc1r A T 8: 124,134,255 (GRCm39) T3S probably benign Het
Med17 G A 9: 15,176,668 (GRCm39) Q70* probably null Het
Myocd A T 11: 65,069,856 (GRCm39) probably null Het
Nphp3 T C 9: 103,909,169 (GRCm39) L793P probably benign Het
Or1ad1 A G 11: 50,876,370 (GRCm39) T281A probably damaging Het
Or2m13 A T 16: 19,226,051 (GRCm39) F238L probably damaging Het
Or4a68 T G 2: 89,270,003 (GRCm39) T207P possibly damaging Het
Or5an10 T C 19: 12,275,944 (GRCm39) D184G probably damaging Het
Or5ap2 T A 2: 85,680,060 (GRCm39) M88K probably damaging Het
Or8c13 T A 9: 38,091,196 (GRCm39) T308S possibly damaging Het
Piezo1 A T 8: 123,213,660 (GRCm39) L1745Q probably damaging Het
Prdm10 T A 9: 31,258,376 (GRCm39) H600Q probably damaging Het
Psapl1 C A 5: 36,362,211 (GRCm39) L268M probably damaging Het
Psg23 T C 7: 18,346,039 (GRCm39) I219V probably benign Het
Rexo5 A T 7: 119,400,553 (GRCm39) R113* probably null Het
Rgs22 A T 15: 36,100,358 (GRCm39) I243N probably damaging Het
Rhbdf1 G A 11: 32,164,517 (GRCm39) T183I probably damaging Het
Rhobtb1 T C 10: 69,106,554 (GRCm39) M373T probably benign Het
Ros1 G T 10: 52,048,966 (GRCm39) A88E probably damaging Het
Sdr16c6 A G 4: 4,058,834 (GRCm39) F251L probably benign Het
Skil A G 3: 31,167,562 (GRCm39) Y398C probably damaging Het
Slc22a3 A T 17: 12,683,419 (GRCm39) M148K probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Sntn A T 14: 13,679,103 (GRCm38) K92N probably benign Het
Spry4 A T 18: 38,722,876 (GRCm39) S296T probably benign Het
St8sia1 A G 6: 142,774,796 (GRCm39) F261S probably damaging Het
Stab2 C T 10: 86,679,364 (GRCm39) probably null Het
Stk24 A T 14: 121,530,866 (GRCm39) C363* probably null Het
Tank G A 2: 61,408,979 (GRCm39) probably benign Het
Tmem67 T C 4: 12,070,262 (GRCm39) N387S probably benign Het
Treml1 A T 17: 48,673,885 (GRCm39) I304L probably benign Het
Trim13 A G 14: 61,842,966 (GRCm39) I328V probably benign Het
Upk2 A G 9: 44,365,382 (GRCm39) V62A probably damaging Het
Urb2 A T 8: 124,756,374 (GRCm39) K694* probably null Het
Vmn2r17 C A 5: 109,574,985 (GRCm39) N97K probably damaging Het
Vmn2r57 A T 7: 41,049,892 (GRCm39) V619D probably damaging Het
Vmn2r92 G A 17: 18,387,634 (GRCm39) R213Q probably benign Het
Wnt6 G A 1: 74,821,788 (GRCm39) C123Y probably damaging Het
Zfp292 A G 4: 34,819,563 (GRCm39) I253T probably damaging Het
Zfp52 C T 17: 21,781,505 (GRCm39) S451L 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
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
R7536:Gria4 UTSW 9 4,464,298 (GRCm39) missense probably damaging 1.00
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'- ATGTCACATCCTTGTTGCATAAAGG -3'
(R):5'- CACTAACTTGTGTATTCCCACGTG -3'

Sequencing Primer
(F):5'- CTTGTTGCATAAAGGCACCCAGG -3'
(R):5'- TTCTCTTGTAGAAAGCAGAGATTGCC -3'
Posted On 2016-03-17