Incidental Mutation 'R5502:Gria2'
| ID |
430649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gria2
|
| Ensembl Gene |
ENSMUSG00000033981 |
| Gene Name |
glutamate receptor, ionotropic, AMPA2 (alpha 2) |
| Synonyms |
Glur-2, GluA2, GluR2, GluR-B, Glur2 |
| MMRRC Submission |
043063-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R5502 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
80588757-80710142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80614252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 596
(N596S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075316]
[ENSMUST00000107745]
[ENSMUST00000192463]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075316
AA Change: N596S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: N596S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
49 |
379 |
2.7e-58 |
PFAM |
|
PBPe
|
415 |
790 |
3.75e-132 |
SMART |
|
Lig_chan-Glu_bd
|
425 |
490 |
2.96e-31 |
SMART |
|
low complexity region
|
820 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
865 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107745
AA Change: N596S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: N596S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
47 |
379 |
4.8e-53 |
PFAM |
|
PBPe
|
415 |
790 |
8.16e-133 |
SMART |
|
Lig_chan-Glu_bd
|
425 |
490 |
2.96e-31 |
SMART |
|
low complexity region
|
820 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
865 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192463
AA Change: N596S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: N596S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
47 |
379 |
1.7e-51 |
PFAM |
|
PBPe
|
415 |
770 |
1.2e-105 |
SMART |
|
Lig_chan-Glu_bd
|
425 |
490 |
2.2e-35 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195062
|
| Meta Mutation Damage Score |
0.6618 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.0%
- 20x: 90.2%
|
| Validation Efficiency |
98% (84/86) |
| 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. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, Gria1-4. The subunit encoded by this gene (Gria2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit epilepsy, deficient dendritic architecture, altered exploratory behavior, impaired motor and learning performance, and increased mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abcc8 |
A |
G |
7: 45,758,262 (GRCm39) |
I1268T |
probably benign |
Het |
| Accsl |
C |
T |
2: 93,687,289 (GRCm39) |
|
probably null |
Het |
| Actmap |
A |
G |
7: 26,896,542 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,756,291 (GRCm39) |
I842F |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,415,370 (GRCm39) |
L98Q |
probably damaging |
Het |
| Bin2 |
A |
G |
15: 100,543,286 (GRCm39) |
V299A |
probably benign |
Het |
| Cabp4 |
G |
A |
19: 4,181,228 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
A |
T |
8: 105,679,155 (GRCm39) |
H324L |
possibly damaging |
Het |
| Chd4 |
G |
A |
6: 125,082,239 (GRCm39) |
R576Q |
possibly damaging |
Het |
| Cndp1 |
A |
G |
18: 84,650,138 (GRCm39) |
V185A |
possibly damaging |
Het |
| Cntn3 |
A |
C |
6: 102,242,295 (GRCm39) |
V450G |
possibly damaging |
Het |
| Col5a2 |
C |
A |
1: 45,419,286 (GRCm39) |
G1265W |
probably damaging |
Het |
| Corin |
G |
A |
5: 72,473,449 (GRCm39) |
Q754* |
probably null |
Het |
| Cyp4a10 |
A |
G |
4: 115,382,702 (GRCm39) |
N291S |
probably benign |
Het |
| Dap3 |
T |
C |
3: 88,832,633 (GRCm39) |
Y353C |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,869,450 (GRCm39) |
V990A |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,847,594 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
A |
16: 93,590,114 (GRCm39) |
V179E |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,132,836 (GRCm39) |
|
probably null |
Het |
| Fyb2 |
A |
T |
4: 104,802,521 (GRCm39) |
Q141L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,227 (GRCm39) |
L178* |
probably null |
Het |
| Gm15446 |
A |
T |
5: 110,088,364 (GRCm39) |
K25* |
probably null |
Het |
| Gm17067 |
A |
T |
7: 42,357,843 (GRCm39) |
C220S |
probably damaging |
Het |
| Gm4868 |
A |
G |
5: 125,925,042 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
GT |
GTT |
9: 118,388,125 (GRCm39) |
|
probably null |
Het |
| Hoxb4 |
A |
G |
11: 96,211,057 (GRCm39) |
D219G |
probably damaging |
Het |
| Htr1b |
T |
A |
9: 81,513,854 (GRCm39) |
Q251L |
possibly damaging |
Het |
| Ibtk |
A |
C |
9: 85,602,916 (GRCm39) |
S696R |
probably benign |
Het |
| Ide |
C |
A |
19: 37,307,855 (GRCm39) |
K52N |
unknown |
Het |
| Incenp |
C |
A |
19: 9,870,728 (GRCm39) |
L300F |
unknown |
Het |
| Ino80 |
T |
C |
2: 119,232,877 (GRCm39) |
Y1147C |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,207,702 (GRCm39) |
Y49* |
probably null |
Het |
| Mmp15 |
A |
T |
8: 96,094,812 (GRCm39) |
T229S |
possibly damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,504,904 (GRCm39) |
N1133I |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,411,250 (GRCm39) |
G284R |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,448,381 (GRCm39) |
I52T |
probably damaging |
Het |
| Nat8f5 |
G |
T |
6: 85,794,635 (GRCm39) |
F108L |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,350,158 (GRCm39) |
H2402Q |
probably damaging |
Het |
| Nexn |
T |
A |
3: 151,943,941 (GRCm39) |
E331D |
probably damaging |
Het |
| Nktr |
C |
T |
9: 121,577,672 (GRCm39) |
|
probably benign |
Het |
| Oaz3 |
T |
C |
3: 94,342,392 (GRCm39) |
D88G |
probably damaging |
Het |
| Or1n1 |
T |
C |
2: 36,750,282 (GRCm39) |
Y26C |
probably damaging |
Het |
| Or4l1 |
A |
G |
14: 50,166,993 (GRCm39) |
Y3H |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,656 (GRCm39) |
T217S |
possibly damaging |
Het |
| Pcdhga2 |
A |
T |
18: 37,803,605 (GRCm39) |
D483V |
possibly damaging |
Het |
| Pde5a |
G |
T |
3: 122,596,681 (GRCm39) |
G456V |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,616,919 (GRCm39) |
T1298A |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,685,064 (GRCm39) |
V303A |
probably damaging |
Het |
| Rbbp6 |
T |
G |
7: 122,587,947 (GRCm39) |
M267R |
probably damaging |
Het |
| Rfx8 |
C |
A |
1: 39,722,113 (GRCm39) |
V291F |
probably damaging |
Het |
| Rnf121 |
T |
C |
7: 101,672,555 (GRCm39) |
K276R |
probably null |
Het |
| Rtca |
G |
T |
3: 116,282,931 (GRCm39) |
Y352* |
probably null |
Het |
| Rusf1 |
C |
T |
7: 127,884,308 (GRCm39) |
V225M |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,443,549 (GRCm39) |
V1865A |
probably damaging |
Het |
| Sclt1 |
C |
T |
3: 41,611,710 (GRCm39) |
E521K |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,396,420 (GRCm39) |
|
probably null |
Het |
| Slc37a4 |
G |
T |
9: 44,313,394 (GRCm39) |
V337L |
probably benign |
Het |
| Slc5a9 |
G |
T |
4: 111,750,366 (GRCm39) |
S79* |
probably null |
Het |
| Snrpd2 |
T |
C |
7: 18,885,247 (GRCm39) |
V36A |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,864,486 (GRCm39) |
N545Y |
probably damaging |
Het |
| Sstr4 |
CGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
2: 148,237,471 (GRCm39) |
|
probably benign |
Het |
| St7 |
G |
A |
6: 17,834,673 (GRCm39) |
V98I |
possibly damaging |
Het |
| Strip2 |
A |
T |
6: 29,927,623 (GRCm39) |
I223F |
probably benign |
Het |
| Syn2 |
A |
C |
6: 115,255,313 (GRCm39) |
N542H |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,109,496 (GRCm39) |
T327A |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,319,992 (GRCm39) |
F59I |
possibly damaging |
Het |
| Tmem41b |
A |
T |
7: 109,581,970 (GRCm39) |
C44* |
probably null |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
| Tusc3 |
A |
T |
8: 39,597,947 (GRCm39) |
K188* |
probably null |
Het |
| Usp39 |
T |
A |
6: 72,305,670 (GRCm39) |
Q371L |
probably benign |
Het |
| Vmn2r13 |
G |
T |
5: 109,321,580 (GRCm39) |
N372K |
probably damaging |
Het |
| Zfp961 |
T |
A |
8: 72,721,903 (GRCm39) |
Y139N |
probably damaging |
Het |
|
| Other mutations in Gria2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00796:Gria2
|
APN |
3 |
80,618,097 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00832:Gria2
|
APN |
3 |
80,614,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01086:Gria2
|
APN |
3 |
80,599,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01409:Gria2
|
APN |
3 |
80,615,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01924:Gria2
|
APN |
3 |
80,617,638 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01999:Gria2
|
APN |
3 |
80,639,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02355:Gria2
|
APN |
3 |
80,614,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Gria2
|
APN |
3 |
80,614,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02389:Gria2
|
APN |
3 |
80,616,729 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02444:Gria2
|
APN |
3 |
80,609,860 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02532:Gria2
|
APN |
3 |
80,614,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02991:Gria2
|
UTSW |
3 |
80,615,116 (GRCm39) |
nonsense |
probably null |
|
|
R0015:Gria2
|
UTSW |
3 |
80,615,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Gria2
|
UTSW |
3 |
80,615,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Gria2
|
UTSW |
3 |
80,615,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Gria2
|
UTSW |
3 |
80,618,165 (GRCm39) |
splice site |
probably benign |
|
|
R0551:Gria2
|
UTSW |
3 |
80,639,333 (GRCm39) |
splice site |
probably benign |
|
|
R0655:Gria2
|
UTSW |
3 |
80,639,377 (GRCm39) |
nonsense |
probably null |
|
|
R0866:Gria2
|
UTSW |
3 |
80,629,331 (GRCm39) |
splice site |
probably benign |
|
|
R1393:Gria2
|
UTSW |
3 |
80,614,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Gria2
|
UTSW |
3 |
80,639,352 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1563:Gria2
|
UTSW |
3 |
80,598,704 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1771:Gria2
|
UTSW |
3 |
80,599,608 (GRCm39) |
nonsense |
probably null |
|
|
R1775:Gria2
|
UTSW |
3 |
80,598,645 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1902:Gria2
|
UTSW |
3 |
80,629,415 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1993:Gria2
|
UTSW |
3 |
80,709,664 (GRCm39) |
missense |
probably benign |
|
|
R1994:Gria2
|
UTSW |
3 |
80,709,664 (GRCm39) |
missense |
probably benign |
|
|
R1995:Gria2
|
UTSW |
3 |
80,709,664 (GRCm39) |
missense |
probably benign |
|
|
R2001:Gria2
|
UTSW |
3 |
80,618,112 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2389:Gria2
|
UTSW |
3 |
80,609,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Gria2
|
UTSW |
3 |
80,614,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Gria2
|
UTSW |
3 |
80,648,260 (GRCm39) |
splice site |
probably benign |
|
|
R2865:Gria2
|
UTSW |
3 |
80,639,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2869:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Gria2
|
UTSW |
3 |
80,648,311 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3967:Gria2
|
UTSW |
3 |
80,618,084 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4285:Gria2
|
UTSW |
3 |
80,614,969 (GRCm39) |
intron |
probably benign |
|
|
R4611:Gria2
|
UTSW |
3 |
80,599,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4612:Gria2
|
UTSW |
3 |
80,639,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Gria2
|
UTSW |
3 |
80,614,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Gria2
|
UTSW |
3 |
80,648,297 (GRCm39) |
missense |
probably benign |
|
|
R4996:Gria2
|
UTSW |
3 |
80,614,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5930:Gria2
|
UTSW |
3 |
80,614,556 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6142:Gria2
|
UTSW |
3 |
80,709,024 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6233:Gria2
|
UTSW |
3 |
80,614,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6317:Gria2
|
UTSW |
3 |
80,648,311 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6453:Gria2
|
UTSW |
3 |
80,648,281 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6526:Gria2
|
UTSW |
3 |
80,599,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6545:Gria2
|
UTSW |
3 |
80,648,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6574:Gria2
|
UTSW |
3 |
80,596,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6720:Gria2
|
UTSW |
3 |
80,709,611 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7009:Gria2
|
UTSW |
3 |
80,614,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Gria2
|
UTSW |
3 |
80,596,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7191:Gria2
|
UTSW |
3 |
80,639,392 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7225:Gria2
|
UTSW |
3 |
80,709,938 (GRCm39) |
unclassified |
probably benign |
|
|
R7374:Gria2
|
UTSW |
3 |
80,648,383 (GRCm39) |
missense |
probably benign |
|
|
R7837:Gria2
|
UTSW |
3 |
80,618,095 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8034:Gria2
|
UTSW |
3 |
80,709,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8125:Gria2
|
UTSW |
3 |
80,614,550 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8189:Gria2
|
UTSW |
3 |
80,629,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Gria2
|
UTSW |
3 |
80,616,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8362:Gria2
|
UTSW |
3 |
80,615,197 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8481:Gria2
|
UTSW |
3 |
80,708,998 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8500:Gria2
|
UTSW |
3 |
80,599,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8516:Gria2
|
UTSW |
3 |
80,614,294 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8918:Gria2
|
UTSW |
3 |
80,599,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Gria2
|
UTSW |
3 |
80,618,170 (GRCm39) |
intron |
probably benign |
|
|
R8971:Gria2
|
UTSW |
3 |
80,615,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9229:Gria2
|
UTSW |
3 |
80,709,689 (GRCm39) |
start codon destroyed |
probably null |
0.60 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTATTTCACAGGCTTACGC -3'
(R):5'- GTCCAAACCAGGAGTGTTTTCC -3'
Sequencing Primer
(F):5'- GCCGACGGTAAAAATTTGCCTTC -3'
(R):5'- AAACCAGGAGTGTTTTCCTTTCTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation