Incidental Mutation 'R8478:Gria4'
| ID |
657384 |
| 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 |
067922-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.627)
|
| Stock # |
R8478 (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 4793882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 59
(E59K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000163309]
[ENSMUST00000212533]
|
| AlphaFold |
Q9Z2W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027020
AA Change: E59K
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: E59K
| 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: E59K
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: E59K
| 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 damaging
Transcript: ENSMUST00000163309
AA Change: E59K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129316
Gene: ENSMUSG00000025892
AA Change: E59K
| 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 damaging
Transcript: ENSMUST00000212533
AA Change: E59K
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1030 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
T |
9: 107,805,844 (GRCm39) |
I56F |
possibly damaging |
Het |
| Adgrl3 |
G |
T |
5: 81,942,348 (GRCm39) |
R1357L |
possibly damaging |
Het |
| Alpk1 |
T |
A |
3: 127,522,961 (GRCm39) |
D27V |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,175 (GRCm39) |
E986G |
probably damaging |
Het |
| Ankle2 |
T |
A |
5: 110,400,818 (GRCm39) |
L717Q |
possibly damaging |
Het |
| Arl8b |
A |
G |
6: 108,760,285 (GRCm39) |
T24A |
possibly damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,047,502 (GRCm39) |
I718T |
probably damaging |
Het |
| Atp6v0e2 |
T |
A |
6: 48,517,031 (GRCm39) |
N70K |
probably benign |
Het |
| Bcl11a |
A |
G |
11: 24,115,086 (GRCm39) |
S810G |
probably damaging |
Het |
| Bcl2a1d |
T |
G |
9: 88,605,488 (GRCm39) |
*173S |
probably null |
Het |
| Bltp1 |
A |
T |
3: 37,087,426 (GRCm39) |
D511V |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,317,278 (GRCm39) |
Y1494H |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,487,850 (GRCm39) |
K186E |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,764,515 (GRCm39) |
I817V |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,441,147 (GRCm39) |
R196* |
probably null |
Het |
| Chsy1 |
C |
T |
7: 65,820,748 (GRCm39) |
H328Y |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,372,522 (GRCm39) |
S713T |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,708,400 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,332,001 (GRCm39) |
N86S |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,593,444 (GRCm39) |
T215A |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,987,944 (GRCm39) |
|
probably null |
Het |
| Fosl1 |
T |
C |
19: 5,504,947 (GRCm39) |
S145P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,187 (GRCm39) |
V160E |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,771,505 (GRCm39) |
K177* |
probably null |
Het |
| Gria1 |
T |
C |
11: 57,200,668 (GRCm39) |
Y782H |
probably damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,575,919 (GRCm39) |
Y99H |
possibly damaging |
Het |
| Insm2 |
A |
T |
12: 55,647,330 (GRCm39) |
Y358F |
probably damaging |
Het |
| Marveld3 |
C |
T |
8: 110,688,600 (GRCm39) |
G47D |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 4,098,064 (GRCm39) |
D967G |
probably damaging |
Het |
| Nav2 |
G |
T |
7: 49,111,733 (GRCm39) |
M746I |
probably damaging |
Het |
| Niban1 |
C |
A |
1: 151,512,263 (GRCm39) |
T55K |
possibly damaging |
Het |
| Nmnat1 |
A |
G |
4: 149,557,841 (GRCm39) |
I67T |
possibly damaging |
Het |
| Nub1 |
G |
T |
5: 24,906,422 (GRCm39) |
R316L |
probably benign |
Het |
| Nxn |
A |
G |
11: 76,164,869 (GRCm39) |
V214A |
probably damaging |
Het |
| Or52n5 |
C |
A |
7: 104,588,477 (GRCm39) |
S248Y |
probably benign |
Het |
| Pelp1 |
A |
T |
11: 70,285,146 (GRCm39) |
D907E |
unknown |
Het |
| Pik3c2a |
A |
T |
7: 116,017,584 (GRCm39) |
S58T |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,505,997 (GRCm39) |
N703S |
probably benign |
Het |
| Polr3c |
G |
A |
3: 96,624,066 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
C |
T |
6: 5,185,318 (GRCm39) |
G61R |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,759,287 (GRCm39) |
M1K |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,466,788 (GRCm39) |
C90S |
probably benign |
Het |
| Prokr1 |
A |
G |
6: 87,558,330 (GRCm39) |
Y352H |
probably benign |
Het |
| Rhod |
C |
T |
19: 4,476,719 (GRCm39) |
R134H |
probably damaging |
Het |
| Rufy3 |
C |
T |
5: 88,762,895 (GRCm39) |
R110W |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,590,871 (GRCm39) |
M460K |
probably benign |
Het |
| Slc46a3 |
T |
C |
5: 147,815,963 (GRCm39) |
S455G |
probably benign |
Het |
| Smyd1 |
A |
T |
6: 71,193,811 (GRCm39) |
H371Q |
probably damaging |
Het |
| Steap1 |
A |
G |
5: 5,786,432 (GRCm39) |
M335T |
probably benign |
Het |
| Suox |
A |
G |
10: 128,506,921 (GRCm39) |
V369A |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,900,666 (GRCm39) |
I514V |
probably benign |
Het |
| Tie1 |
A |
T |
4: 118,341,979 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
T |
C |
3: 83,805,769 (GRCm39) |
E1558G |
probably damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,698,386 (GRCm39) |
H45Q |
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,870,857 (GRCm39) |
S327P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,175,429 (GRCm39) |
V1176M |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,524,892 (GRCm39) |
M2197T |
probably benign |
Het |
| Vmn1r50 |
G |
T |
6: 90,085,071 (GRCm39) |
C272F |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,143,636 (GRCm39) |
N771K |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,257 (GRCm39) |
F691I |
possibly damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,340,281 (GRCm39) |
Q64R |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,672,544 (GRCm39) |
L760F |
probably damaging |
Het |
| Wdr97 |
T |
C |
15: 76,247,629 (GRCm39) |
|
probably null |
Het |
| Xdh |
C |
A |
17: 74,213,053 (GRCm39) |
E863D |
probably benign |
Het |
| Ykt6 |
A |
G |
11: 5,912,407 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Zranb2 |
A |
G |
3: 157,251,745 (GRCm39) |
*321W |
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 |
|
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 |
|
|
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'- GGCAAAGAGCTCCTTAATTGTGTG -3'
Sequencing Primer
(F):5'- TCCATGCAGGAAAATTAAAAGGC -3'
(R):5'- AAGAGCTCCTTAATTGTGTGTGCTTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation