Incidental Mutation 'R6470:Gria4'
ID 516482
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 044603-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.690) question?
Stock # R6470 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 4417896-4796234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4503680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 312 (F312S)
Ref Sequence ENSEMBL: ENSMUSP00000148533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027020] [ENSMUST00000063508] [ENSMUST00000163309] [ENSMUST00000212533]
AlphaFold Q9Z2W8
Predicted Effect probably damaging
Transcript: ENSMUST00000027020
AA Change: F312S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: F312S

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: F312S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: F312S

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: ENSMUST00000163309
AA Change: F312S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129316
Gene: ENSMUSG00000025892
AA Change: F312S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:ANF_receptor 39 380 3.2e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212533
AA Change: F312S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (45/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G T 8: 88,290,656 (GRCm39) V5L probably benign Het
Bptf A G 11: 106,963,593 (GRCm39) V1804A probably damaging Het
Brinp3 A G 1: 146,777,644 (GRCm39) D697G probably damaging Het
Carns1 T C 19: 4,221,782 (GRCm39) T158A possibly damaging Het
Cd300lg A G 11: 101,941,331 (GRCm39) N244S possibly damaging Het
Ces3b A T 8: 105,815,285 (GRCm39) Q12L possibly damaging Het
Chd9 A G 8: 91,659,426 (GRCm39) T129A probably damaging Het
Clca3a2 T A 3: 144,510,024 (GRCm39) probably null Het
Cubn G T 2: 13,327,804 (GRCm39) R2674S possibly damaging Het
Cyp2b10 T C 7: 25,611,081 (GRCm39) I146T possibly damaging Het
Cyp4v3 C T 8: 45,770,773 (GRCm39) W244* probably null Het
Dnah6 T A 6: 73,051,569 (GRCm39) D3075V probably damaging Het
Dpy19l2 A T 9: 24,572,039 (GRCm39) I327N possibly damaging Het
Dst T A 1: 34,334,318 (GRCm39) F4849I probably damaging Het
Dysf A G 6: 84,043,926 (GRCm39) I256V possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Garin5b T C 7: 4,760,850 (GRCm39) T621A probably benign Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Gm9936 T C 5: 114,995,482 (GRCm39) probably benign Het
Ifna2 T C 4: 88,601,751 (GRCm39) N89S probably benign Het
Il17rb A G 14: 29,724,866 (GRCm39) S207P probably benign Het
Itga9 A T 9: 118,726,335 (GRCm39) I430F probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Ltk A T 2: 119,583,516 (GRCm39) probably null Het
Nat8l C T 5: 34,155,836 (GRCm39) T164M probably damaging Het
Nrf1 A G 6: 30,102,199 (GRCm39) D166G probably damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Or10a4 T C 7: 106,696,951 (GRCm39) I93T probably damaging Het
Phlpp2 A G 8: 110,663,826 (GRCm39) D955G probably benign Het
Pianp T A 6: 124,976,232 (GRCm39) probably benign Het
Plin2 G T 4: 86,586,607 (GRCm39) Q75K probably damaging Het
Qrich1 T C 9: 108,411,717 (GRCm39) V414A probably damaging Het
Ros1 A G 10: 52,042,140 (GRCm39) probably null Het
Sardh C T 2: 27,134,384 (GRCm39) R44Q probably damaging Het
Scaf4 C T 16: 90,026,526 (GRCm39) W1072* probably null Het
Sh3rf3 A G 10: 58,819,791 (GRCm39) K201E probably damaging Het
Shprh G T 10: 11,047,681 (GRCm39) A1010S probably damaging Het
Slc35d1 A G 4: 103,047,019 (GRCm39) S260P probably damaging Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Sptb A G 12: 76,659,603 (GRCm39) L1099P probably damaging Het
Srrt T C 5: 137,300,918 (GRCm39) D90G probably damaging Het
Syt10 T C 15: 89,676,804 (GRCm39) D394G probably damaging Het
Tlr3 T C 8: 45,850,422 (GRCm39) D301G probably damaging Het
Ubr3 T A 2: 69,795,804 (GRCm39) M916K probably benign 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
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'- GATTTCTGCCTGGCTGAGTC -3'
(R):5'- GGTACCATGGTAGCTCTTGAG -3'

Sequencing Primer
(F):5'- TGGAATACTGGACTCTTGATAACC -3'
(R):5'- TACCATGGTAGCTCTTGAGAAAGATG -3'
Posted On 2018-05-21