Incidental Mutation 'R8888:Gria4'
ID 677494
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 068692-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.690) question?
Stock # R8888 (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 4664951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 102 (S102P)
Ref Sequence ENSEMBL: ENSMUSP00000066980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027020] [ENSMUST00000063508] [ENSMUST00000163309] [ENSMUST00000212533]
AlphaFold Q9Z2W8
Predicted Effect probably damaging
Transcript: ENSMUST00000027020
AA Change: S102P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: S102P

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: S102P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: S102P

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: S102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129316
Gene: ENSMUSG00000025892
AA Change: S102P

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: S102P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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. 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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1a1 A G 4: 116,498,260 (GRCm39) L95P probably damaging Het
Amigo2 G T 15: 97,143,389 (GRCm39) N344K probably damaging Het
Ankrd11 T C 8: 123,621,014 (GRCm39) D946G possibly damaging Het
Ankrd12 T C 17: 66,338,568 (GRCm39) probably null Het
Atp8b5 A G 4: 43,304,687 (GRCm39) N66S Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Birc6 G A 17: 74,835,533 (GRCm39) S24N probably null Het
Bzw2 A T 12: 36,173,982 (GRCm39) C97* probably null Het
Capn12 T A 7: 28,585,949 (GRCm39) probably benign Het
Cdh1 T A 8: 107,330,971 (GRCm39) F34Y probably damaging Het
Cdh5 T C 8: 104,852,092 (GRCm39) I69T possibly damaging Het
Celsr2 G A 3: 108,320,880 (GRCm39) T644I possibly damaging Het
Cep85l A T 10: 53,224,911 (GRCm39) L226Q possibly damaging Het
Clasp2 T A 9: 113,732,936 (GRCm39) M924K possibly damaging Het
Col3a1 G A 1: 45,379,139 (GRCm39) A850T unknown Het
Cped1 C T 6: 22,016,962 (GRCm39) P104S possibly damaging Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Cyp2c69 T C 19: 39,869,910 (GRCm39) D104G possibly damaging Het
Daw1 T A 1: 83,187,011 (GRCm39) C274S probably damaging Het
Dmtn T C 14: 70,850,144 (GRCm39) T267A probably benign Het
Dock5 A G 14: 68,055,112 (GRCm39) Y585H possibly damaging Het
Dop1a A G 9: 86,403,587 (GRCm39) I132V probably benign Het
Dpysl5 C T 5: 30,902,687 (GRCm39) R40C probably benign Het
Dsg2 T G 18: 20,723,126 (GRCm39) V384G probably damaging Het
Elmo1 C T 13: 20,748,630 (GRCm39) L492F probably damaging Het
Epg5 C A 18: 78,056,086 (GRCm39) D1753E possibly damaging Het
Ext1 T C 15: 52,955,723 (GRCm39) Y458C probably damaging Het
Folr2 C T 7: 101,489,408 (GRCm39) V244M unknown Het
Frmd6 C A 12: 70,940,646 (GRCm39) H430Q possibly damaging Het
Galnt18 T C 7: 111,378,709 (GRCm39) I16V possibly damaging Het
Gm10036 C A 18: 15,966,207 (GRCm39) Y119* probably null Het
Hc A T 2: 34,890,861 (GRCm39) N1318K probably benign Het
Htr2a C T 14: 74,882,617 (GRCm39) T201I possibly damaging Het
Ifitm1 T C 7: 140,549,499 (GRCm39) L94P probably damaging Het
Iqca1l T C 5: 24,755,628 (GRCm39) D298G probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kank4 C T 4: 98,653,747 (GRCm39) V894I possibly damaging Het
Kcnip2 T A 19: 45,785,100 (GRCm39) probably benign Het
Klhl29 A T 12: 5,187,542 (GRCm39) L274H possibly damaging Het
Lamb1 A G 12: 31,352,953 (GRCm39) T885A possibly damaging Het
Ldc1 T C 4: 130,105,223 (GRCm39) K316E probably benign Het
Lipi A T 16: 75,352,710 (GRCm39) L376I probably benign Het
Lrrc37 T A 11: 103,509,656 (GRCm39) T771S unknown Het
Malrd1 A T 2: 15,850,038 (GRCm39) N1219I unknown Het
Mrc1 A C 2: 14,312,760 (GRCm39) N894T probably damaging Het
Mrpl35 C T 6: 71,793,271 (GRCm39) A127T possibly damaging Het
Naip2 T C 13: 100,325,644 (GRCm39) H88R probably benign Het
Nek5 C T 8: 22,580,495 (GRCm39) probably null Het
Nlrc5 G A 8: 95,252,118 (GRCm39) V1880I probably benign Het
Noc3l T A 19: 38,798,751 (GRCm39) K282N probably damaging Het
Nwd2 T C 5: 63,963,241 (GRCm39) Y942H probably damaging Het
Or10ag2 T C 2: 87,248,659 (GRCm39) V87A probably benign Het
Or4f62 G A 2: 111,986,974 (GRCm39) R226H probably benign Het
Or52d1 T A 7: 103,756,302 (GRCm39) I272N probably damaging Het
Osbpl9 C A 4: 108,930,333 (GRCm39) A221S probably benign Het
Paip1 T C 13: 119,566,801 (GRCm39) L45S probably benign Het
Pccb A T 9: 100,905,305 (GRCm39) probably benign Het
Pgap3 A G 11: 98,281,602 (GRCm39) F199L possibly damaging Het
Pik3c2g A T 6: 139,676,092 (GRCm39) K79* probably null Het
Pou3f1 C G 4: 124,552,152 (GRCm39) A218G possibly damaging Het
Ptk2b T A 14: 66,412,242 (GRCm39) N383I probably benign Het
Rad52 C T 6: 119,890,041 (GRCm39) R56C probably damaging Het
Rdh7 A T 10: 127,724,430 (GRCm39) F18Y probably benign Het
Scart2 C T 7: 139,841,532 (GRCm39) P279S possibly damaging Het
Septin5 A G 16: 18,441,861 (GRCm39) M315T possibly damaging Het
Slc27a6 A G 18: 58,715,306 (GRCm39) Y303C probably damaging Het
Slc7a7 T A 14: 54,607,293 (GRCm39) M495L probably benign Het
Sntg1 T A 1: 8,748,074 (GRCm39) probably null Het
Spdye4a T G 5: 143,211,418 (GRCm39) S49R probably benign Het
Spred2 T A 11: 19,951,019 (GRCm39) I72N probably benign Het
Stox1 A T 10: 62,495,386 (GRCm39) H962Q probably benign Het
Susd2 G T 10: 75,475,452 (GRCm39) A484D possibly damaging Het
Syt14 A G 1: 192,579,866 (GRCm39) S473P probably damaging Het
Tpx2 T C 2: 152,724,255 (GRCm39) Y344H probably damaging Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Ttf2 A T 3: 100,870,028 (GRCm39) F348L probably benign Het
Ttn A T 2: 76,663,650 (GRCm39) V11675E unknown Het
Usp2 G T 9: 43,986,894 (GRCm39) R64L 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
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
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'- TAAGACTTACCCCTGTCTGTATCATAC -3'
(R):5'- GCTGTCAGCACAAACTCAAG -3'

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