Incidental Mutation 'R7643:Gria4'
ID |
590357 |
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 |
045700-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.627)
|
Stock # |
R7643 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4793950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 36
(N36S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000163309]
[ENSMUST00000212533]
|
AlphaFold |
Q9Z2W8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027020
AA Change: N36S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027020 Gene: ENSMUSG00000025892 AA Change: N36S
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000063508
AA Change: N36S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000066980 Gene: ENSMUSG00000025892 AA Change: N36S
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000163309
AA Change: N36S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000129316 Gene: ENSMUSG00000025892 AA Change: N36S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
39 |
380 |
3.2e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212533
AA Change: N36S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (64/64) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
A |
G |
9: 15,209,156 (GRCm39) |
F46S |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,229,182 (GRCm39) |
Y1670H |
probably damaging |
Het |
Acrbp |
G |
A |
6: 125,030,795 (GRCm39) |
R272Q |
possibly damaging |
Het |
Adcy6 |
T |
A |
15: 98,491,449 (GRCm39) |
Q1050L |
probably benign |
Het |
Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
Ankrd13b |
A |
G |
11: 77,363,911 (GRCm39) |
V395A |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,126,820 (GRCm39) |
K310R |
probably benign |
Het |
Bnc2 |
T |
C |
4: 84,424,811 (GRCm39) |
D123G |
probably benign |
Het |
Bst1 |
G |
A |
5: 43,997,791 (GRCm39) |
M263I |
probably benign |
Het |
Ccdc7a |
C |
T |
8: 129,616,292 (GRCm39) |
G937E |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,373,415 (GRCm39) |
M1232V |
probably benign |
Het |
Cfhr1 |
A |
G |
1: 139,481,323 (GRCm39) |
Y186H |
possibly damaging |
Het |
Dnah7c |
A |
T |
1: 46,641,973 (GRCm39) |
H1203L |
probably benign |
Het |
Emc7 |
A |
G |
2: 112,285,624 (GRCm39) |
E71G |
probably benign |
Het |
Exoc3l4 |
G |
A |
12: 111,388,369 (GRCm39) |
|
probably benign |
Het |
Fam83c |
A |
G |
2: 155,672,924 (GRCm39) |
F278L |
possibly damaging |
Het |
Gabpb2 |
C |
A |
3: 95,107,536 (GRCm39) |
V180L |
probably benign |
Het |
Gbp2b |
G |
T |
3: 142,309,370 (GRCm39) |
Q160H |
probably benign |
Het |
Gm19965 |
C |
G |
1: 116,749,959 (GRCm39) |
Q547E |
unknown |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gon4l |
T |
A |
3: 88,810,114 (GRCm39) |
D1774E |
probably damaging |
Het |
Gpr15 |
A |
C |
16: 58,538,179 (GRCm39) |
Y303* |
probably null |
Het |
Greb1 |
T |
C |
12: 16,761,997 (GRCm39) |
D461G |
probably damaging |
Het |
Hacd1 |
T |
C |
2: 14,049,602 (GRCm39) |
I119V |
probably damaging |
Het |
Ing5 |
T |
A |
1: 93,740,155 (GRCm39) |
D101E |
probably damaging |
Het |
Irak4 |
T |
A |
15: 94,456,709 (GRCm39) |
N297K |
probably benign |
Het |
Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
Klf5 |
A |
G |
14: 99,550,614 (GRCm39) |
E397G |
possibly damaging |
Het |
Krtap29-1 |
C |
T |
11: 99,869,024 (GRCm39) |
G286S |
probably damaging |
Het |
Lrp2bp |
A |
T |
8: 46,473,564 (GRCm39) |
|
probably null |
Het |
Marchf4 |
T |
G |
1: 72,486,379 (GRCm39) |
Q266H |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,781,863 (GRCm39) |
T1056A |
probably benign |
Het |
Megf11 |
T |
C |
9: 64,613,914 (GRCm39) |
L1079P |
probably damaging |
Het |
Mycbp2 |
G |
T |
14: 103,583,701 (GRCm39) |
L85I |
probably benign |
Het |
Nlgn2 |
G |
T |
11: 69,718,711 (GRCm39) |
Q290K |
probably damaging |
Het |
Nox4 |
A |
T |
7: 86,972,962 (GRCm39) |
E323V |
probably damaging |
Het |
Nup93 |
T |
C |
8: 95,013,247 (GRCm39) |
|
probably null |
Het |
Or10d5b |
T |
A |
9: 39,886,117 (GRCm39) |
M1L |
unknown |
Het |
Or14a257 |
C |
T |
7: 86,138,776 (GRCm39) |
|
probably null |
Het |
Or51e1 |
C |
T |
7: 102,358,745 (GRCm39) |
T93I |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,230,474 (GRCm39) |
L117P |
probably damaging |
Het |
Pde6c |
C |
A |
19: 38,129,869 (GRCm39) |
Q260K |
probably damaging |
Het |
Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
Qser1 |
A |
T |
2: 104,617,322 (GRCm39) |
Y1163* |
probably null |
Het |
Rbm12 |
A |
T |
2: 155,940,137 (GRCm39) |
I45N |
unknown |
Het |
Rictor |
T |
A |
15: 6,798,750 (GRCm39) |
Y332* |
probably null |
Het |
Rpp14 |
C |
A |
14: 8,090,325 (GRCm38) |
S83* |
probably null |
Het |
Sel1l3 |
C |
T |
5: 53,280,504 (GRCm39) |
|
probably null |
Het |
Setd2 |
T |
C |
9: 110,396,908 (GRCm39) |
|
probably null |
Het |
Spink5 |
A |
G |
18: 44,143,319 (GRCm39) |
T759A |
probably benign |
Het |
Spon2 |
T |
A |
5: 33,374,800 (GRCm39) |
E2V |
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,826,140 (GRCm39) |
S144P |
probably damaging |
Het |
Tex15 |
A |
C |
8: 34,065,148 (GRCm39) |
Y1526S |
probably damaging |
Het |
Tex55 |
A |
G |
16: 38,648,225 (GRCm39) |
Y295H |
probably benign |
Het |
Tnfrsf21 |
T |
C |
17: 43,348,807 (GRCm39) |
S140P |
probably benign |
Het |
Trav6-2 |
T |
A |
14: 52,904,899 (GRCm39) |
M11K |
probably benign |
Het |
Trp53bp1 |
G |
T |
2: 121,078,295 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,565,171 (GRCm39) |
N28352S |
possibly damaging |
Het |
Uckl1 |
T |
C |
2: 181,214,899 (GRCm39) |
I292V |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,216,333 (GRCm39) |
S211T |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,965,635 (GRCm39) |
I313T |
possibly damaging |
Het |
Zfp106 |
C |
T |
2: 120,343,215 (GRCm39) |
R1811K |
probably benign |
Het |
Zfp599 |
G |
T |
9: 22,161,188 (GRCm39) |
Q326K |
probably benign |
Het |
Zscan4e |
A |
T |
7: 11,043,452 (GRCm39) |
M108K |
probably damaging |
Het |
|
Other mutations in Gria4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- CAGTTTATGTGATCCATGCAGG -3'
(R):5'- TTGTGATCACGACAGATTGAAGC -3'
Sequencing Primer
(F):5'- GAAATCCCACTAGCTCATTTTAGTTC -3'
(R):5'- GCTGAAATGCCTTAAAGACTAAAAC -3'
|
Posted On |
2019-10-24 |