Incidental Mutation 'R1517:Gria4'
| ID |
167104 |
| 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 |
039563-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.690)
|
| Stock # |
R1517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4793865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 64
(L64F)
|
| 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: L64F
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: L64F
| 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 damaging
Transcript: ENSMUST00000063508
AA Change: L64F
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: L64F
| 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: L64F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129316
Gene: ENSMUSG00000025892
AA Change: L64F
| 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: L64F
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.5865 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
100% (67/67) |
| 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 |
|---|
| Abca8b |
T |
C |
11: 109,862,640 (GRCm39) |
K375R |
possibly damaging |
Het |
| Adrb2 |
T |
C |
18: 62,311,871 (GRCm39) |
N318S |
probably damaging |
Het |
| Akap5 |
A |
C |
12: 76,376,036 (GRCm39) |
E489D |
possibly damaging |
Het |
| Aldh7a1 |
T |
A |
18: 56,665,133 (GRCm39) |
I385F |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,407,146 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
A |
8: 22,487,374 (GRCm39) |
T1314S |
probably damaging |
Het |
| Bhmt2 |
C |
A |
13: 93,798,847 (GRCm39) |
G325C |
probably damaging |
Het |
| Brpf1 |
T |
A |
6: 113,296,050 (GRCm39) |
V781E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,575,720 (GRCm39) |
Y1860F |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,788,162 (GRCm39) |
T56A |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,937,027 (GRCm39) |
S560P |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,469,841 (GRCm39) |
T1343I |
probably benign |
Het |
| Coq10b |
T |
C |
1: 55,103,416 (GRCm39) |
S65P |
probably damaging |
Het |
| Creld1 |
T |
A |
6: 113,466,745 (GRCm39) |
C243S |
probably damaging |
Het |
| Cst12 |
A |
T |
2: 148,635,172 (GRCm39) |
I121F |
possibly damaging |
Het |
| Cyp26a1 |
A |
C |
19: 37,687,308 (GRCm39) |
E165A |
probably benign |
Het |
| Cyp2d12 |
T |
G |
15: 82,442,337 (GRCm39) |
M273R |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,291,657 (GRCm39) |
S227C |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,476,379 (GRCm39) |
Q390L |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,970 (GRCm39) |
L351* |
probably null |
Het |
| Fga |
T |
C |
3: 82,939,145 (GRCm39) |
S507P |
probably benign |
Het |
| Gba1 |
A |
T |
3: 89,113,455 (GRCm39) |
Y239F |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,195,996 (GRCm39) |
Y843* |
probably null |
Het |
| Hectd3 |
A |
G |
4: 116,860,191 (GRCm39) |
Y803C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,545,172 (GRCm39) |
K2812E |
probably damaging |
Het |
| Il17b |
T |
G |
18: 61,823,316 (GRCm39) |
V50G |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,357,151 (GRCm39) |
L243* |
probably null |
Het |
| Kank4 |
C |
A |
4: 98,667,266 (GRCm39) |
V394L |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,711 (GRCm39) |
D65E |
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,136,090 (GRCm39) |
Y696H |
probably damaging |
Het |
| Kctd19 |
C |
A |
8: 106,122,008 (GRCm39) |
D180Y |
probably damaging |
Het |
| Klra8 |
A |
C |
6: 130,092,603 (GRCm39) |
S233A |
probably benign |
Het |
| Masp2 |
A |
T |
4: 148,696,563 (GRCm39) |
T387S |
possibly damaging |
Het |
| Midn |
C |
A |
10: 79,989,957 (GRCm39) |
T275N |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,180,587 (GRCm39) |
F965L |
probably benign |
Het |
| Myo3a |
G |
T |
2: 22,287,445 (GRCm39) |
V186L |
probably damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,235,281 (GRCm39) |
N884I |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,581,016 (GRCm39) |
I221T |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,502 (GRCm39) |
C97* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,948 (GRCm39) |
T75S |
probably damaging |
Het |
| Osr2 |
T |
C |
15: 35,300,813 (GRCm39) |
V123A |
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,008,471 (GRCm39) |
H226R |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,151 (GRCm39) |
V37E |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,622,673 (GRCm39) |
M1K |
probably null |
Het |
| Pcsk1 |
T |
A |
13: 75,246,166 (GRCm39) |
Y181* |
probably null |
Het |
| Pros1 |
G |
T |
16: 62,705,875 (GRCm39) |
C63F |
probably damaging |
Het |
| Ranbp3l |
T |
A |
15: 9,065,081 (GRCm39) |
C353* |
probably null |
Het |
| Rev3l |
T |
C |
10: 39,714,439 (GRCm39) |
Y2388H |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rpl12-ps1 |
G |
T |
1: 36,997,458 (GRCm39) |
|
noncoding transcript |
Het |
| Rttn |
T |
C |
18: 89,131,474 (GRCm39) |
V1951A |
probably benign |
Het |
| Scn9a |
G |
A |
2: 66,335,371 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
| Sh3glb2 |
C |
T |
2: 30,244,987 (GRCm39) |
R71Q |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,715,842 (GRCm39) |
F101L |
probably benign |
Het |
| Snrpd1 |
T |
C |
18: 10,626,913 (GRCm39) |
I60T |
probably damaging |
Het |
| Sox10 |
T |
A |
15: 79,043,378 (GRCm39) |
E218D |
probably benign |
Het |
| Tekt3 |
C |
A |
11: 62,961,316 (GRCm39) |
H162N |
probably damaging |
Het |
| Tnfsf13 |
T |
C |
11: 69,575,564 (GRCm39) |
S246G |
possibly damaging |
Het |
| Trim10 |
T |
A |
17: 37,183,346 (GRCm39) |
I214N |
probably damaging |
Het |
| Trp63 |
C |
A |
16: 25,708,003 (GRCm39) |
D566E |
probably damaging |
Het |
| Uck2 |
T |
C |
1: 167,062,293 (GRCm39) |
D156G |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,225 (GRCm39) |
S314R |
possibly damaging |
Het |
| Zfp467 |
C |
T |
6: 48,415,170 (GRCm39) |
R494H |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,470 (GRCm39) |
D138V |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,298,925 (GRCm39) |
E445G |
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 |
|
|
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 |
|
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'- AAAGGAAGGCAGGCACTTACTTCAG -3'
(R):5'- GCAGCCCCTATGATATGGCAAAGAG -3'
Sequencing Primer
(F):5'- caaggaagggtggaaggaag -3'
(R):5'- ATGTTTGACAGTCATGGAACTAGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation