Incidental Mutation 'R6612:Gria4'
| ID |
523676 |
| 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 |
044735-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.690)
|
| Stock # |
R6612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4472206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 428
(V428I)
|
| 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: V428I
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: V428I
| 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 |
possibly damaging
Transcript: ENSMUST00000063508
AA Change: V428I
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: V428I
| 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 |
possibly damaging
Transcript: ENSMUST00000212533
AA Change: V428I
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1324 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| Validation Efficiency |
95% (59/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
C |
1: 159,902,804 (GRCm39) |
N25H |
probably damaging |
Het |
| Akr1c14 |
A |
T |
13: 4,115,331 (GRCm39) |
S87C |
probably benign |
Het |
| Arhgef37 |
T |
C |
18: 61,627,952 (GRCm39) |
T664A |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,528 (GRCm39) |
T73A |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,979,960 (GRCm39) |
T274S |
probably benign |
Het |
| Cd244a |
A |
G |
1: 171,401,672 (GRCm39) |
T133A |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Ciz1 |
T |
A |
2: 32,267,323 (GRCm39) |
S720T |
possibly damaging |
Het |
| Cxcr6 |
T |
A |
9: 123,639,785 (GRCm39) |
I262N |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,008,072 (GRCm39) |
F160I |
probably benign |
Het |
| Esrra |
T |
C |
19: 6,889,220 (GRCm39) |
T390A |
probably benign |
Het |
| Gm17079 |
T |
A |
14: 51,931,833 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Gm17079 |
C |
A |
14: 51,931,832 (GRCm39) |
Q91H |
probably damaging |
Het |
| Got1 |
A |
G |
19: 43,493,242 (GRCm39) |
S256P |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,717,996 (GRCm39) |
Y699H |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,795,808 (GRCm39) |
I154V |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,231,220 (GRCm39) |
E628G |
possibly damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,470,869 (GRCm39) |
|
probably null |
Het |
| Hspbap1 |
T |
G |
16: 35,621,961 (GRCm39) |
L102W |
probably damaging |
Het |
| Iqcb1 |
G |
A |
16: 36,692,023 (GRCm39) |
|
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,784,862 (GRCm39) |
Y763C |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,874,897 (GRCm39) |
D418V |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,690,432 (GRCm39) |
D631G |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,408,344 (GRCm39) |
I52V |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,407,189 (GRCm39) |
I1468T |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,743,739 (GRCm39) |
|
probably benign |
Het |
| Mab21l3 |
A |
G |
3: 101,725,961 (GRCm39) |
V345A |
possibly damaging |
Het |
| Marchf10 |
A |
T |
11: 105,287,904 (GRCm39) |
S133T |
probably damaging |
Het |
| Mccc1 |
T |
C |
3: 36,048,079 (GRCm39) |
S115G |
probably benign |
Het |
| Mchr1 |
G |
A |
15: 81,122,071 (GRCm39) |
V274M |
probably damaging |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,783 (GRCm39) |
I48F |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,734,479 (GRCm39) |
F687Y |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,308,302 (GRCm39) |
L216* |
probably null |
Het |
| Nrxn3 |
A |
T |
12: 89,780,102 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
T |
A |
16: 91,023,769 (GRCm39) |
M161K |
probably damaging |
Het |
| Or11h7 |
A |
T |
14: 50,891,090 (GRCm39) |
Y132F |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,210 (GRCm39) |
N141K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,088,031 (GRCm39) |
V738A |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,328,503 (GRCm39) |
S212P |
probably benign |
Het |
| Plk3 |
G |
A |
4: 116,989,934 (GRCm39) |
Q194* |
probably null |
Het |
| Ppp1r36 |
T |
C |
12: 76,484,378 (GRCm39) |
I216T |
possibly damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,052,081 (GRCm39) |
N2303K |
probably damaging |
Het |
| Rab25 |
G |
A |
3: 88,450,710 (GRCm39) |
T117M |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,619,732 (GRCm39) |
D320E |
possibly damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,821,904 (GRCm39) |
V231A |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,803,140 (GRCm39) |
H1225Y |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,156,758 (GRCm39) |
A470V |
probably benign |
Het |
| Spa17 |
A |
G |
9: 37,517,090 (GRCm39) |
F101S |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,096,791 (GRCm39) |
A217T |
probably benign |
Het |
| Stimate |
T |
A |
14: 30,593,521 (GRCm39) |
|
probably null |
Het |
| Synm |
G |
C |
7: 67,383,264 (GRCm39) |
T1466S |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 53,967,187 (GRCm39) |
E29G |
possibly damaging |
Het |
| Teddm2 |
T |
A |
1: 153,726,191 (GRCm39) |
T175S |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,096 (GRCm39) |
H446L |
possibly damaging |
Het |
| Tpm3-rs7 |
G |
T |
14: 113,552,268 (GRCm39) |
R54L |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,022,926 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,643,594 (GRCm39) |
S4319P |
possibly damaging |
Het |
| Zbtb10 |
C |
A |
3: 9,317,125 (GRCm39) |
H312Q |
possibly damaging |
Het |
| Zfp462 |
A |
T |
4: 55,012,324 (GRCm39) |
|
probably null |
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 |
|
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'- GCTTGCTTACCCCATACACAAG -3'
(R):5'- ATGCCTTCTCTGAGTAAAGCACC -3'
Sequencing Primer
(F):5'- TGCTTACCCCATACACAAGCTCTC -3'
(R):5'- CTCTGAGTAAAGCACCTTACTTAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation