Incidental Mutation 'R8481:Gria2'
| ID |
657515 |
| 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 |
067925-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R8481 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
80588757-80710142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80708998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 61
(H61Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075316]
[ENSMUST00000107745]
[ENSMUST00000192463]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075316
AA Change: H61Q
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: H61Q
| 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 |
possibly damaging
Transcript: ENSMUST00000107745
AA Change: H61Q
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: H61Q
| 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 |
possibly damaging
Transcript: ENSMUST00000192463
AA Change: H61Q
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: H61Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (45/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,398,381 (GRCm39) |
Y380* |
probably null |
Het |
| Apob |
T |
A |
12: 8,044,807 (GRCm39) |
|
probably null |
Het |
| Aste1 |
G |
A |
9: 105,274,189 (GRCm39) |
R143Q |
possibly damaging |
Het |
| BC024139 |
T |
C |
15: 76,004,882 (GRCm39) |
D598G |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,111,399 (GRCm39) |
V551A |
probably benign |
Het |
| Ccdc88b |
A |
T |
19: 6,831,900 (GRCm39) |
L427Q |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,412,569 (GRCm39) |
V301A |
probably benign |
Het |
| Chuk |
G |
T |
19: 44,084,678 (GRCm39) |
H306Q |
probably benign |
Het |
| Cryzl1 |
C |
A |
16: 91,504,161 (GRCm39) |
E69* |
probably null |
Het |
| Cul5 |
A |
T |
9: 53,558,123 (GRCm39) |
D160E |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,972,335 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,575,753 (GRCm39) |
M2954V |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,419,941 (GRCm39) |
D3746E |
probably benign |
Het |
| Dnm1 |
A |
G |
2: 32,230,490 (GRCm39) |
V108A |
probably benign |
Het |
| Dpp9 |
C |
A |
17: 56,501,467 (GRCm39) |
D582Y |
possibly damaging |
Het |
| Evi2 |
T |
A |
11: 79,406,288 (GRCm39) |
|
probably benign |
Het |
| Got2 |
T |
A |
8: 96,615,152 (GRCm39) |
|
probably benign |
Het |
| Hnrnpa2b1 |
C |
T |
6: 51,444,391 (GRCm39) |
V8I |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,072,629 (GRCm39) |
I354V |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,070,375 (GRCm39) |
K421R |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,404,779 (GRCm39) |
D1974G |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,594,152 (GRCm39) |
E5D |
possibly damaging |
Het |
| Mprip |
T |
A |
11: 59,648,982 (GRCm39) |
Y895* |
probably null |
Het |
| Myo5c |
T |
C |
9: 75,208,726 (GRCm39) |
F1679S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,114,597 (GRCm39) |
K4221E |
probably damaging |
Het |
| Nek4 |
A |
G |
14: 30,685,991 (GRCm39) |
Y308C |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,437,598 (GRCm39) |
N110S |
probably damaging |
Het |
| Or11a4 |
T |
A |
17: 37,536,295 (GRCm39) |
I93K |
probably damaging |
Het |
| Or4k40 |
T |
A |
2: 111,250,994 (GRCm39) |
I101F |
possibly damaging |
Het |
| Padi2 |
A |
G |
4: 140,660,564 (GRCm39) |
Q348R |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,198,814 (GRCm39) |
T324I |
probably benign |
Het |
| Pon3 |
C |
T |
6: 5,221,715 (GRCm39) |
R305H |
probably benign |
Het |
| Prlhr |
A |
G |
19: 60,456,125 (GRCm39) |
V147A |
possibly damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,655,153 (GRCm39) |
T605A |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,777,953 (GRCm39) |
S162P |
probably damaging |
Het |
| Rgs7bp |
A |
G |
13: 105,190,716 (GRCm39) |
S3P |
probably damaging |
Het |
| Sec24d |
T |
A |
3: 123,147,073 (GRCm39) |
L677H |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,275,958 (GRCm39) |
R263G |
probably damaging |
Het |
| Slu7 |
C |
A |
11: 43,328,320 (GRCm39) |
L45M |
probably damaging |
Het |
| Slu7 |
T |
A |
11: 43,328,321 (GRCm39) |
L45Q |
probably damaging |
Het |
| Sp140 |
A |
G |
1: 85,569,512 (GRCm39) |
D374G |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Tex36 |
A |
T |
7: 133,189,189 (GRCm39) |
S128T |
probably damaging |
Het |
| Tpbg |
T |
C |
9: 85,726,138 (GRCm39) |
S36P |
unknown |
Het |
| Tubgcp2 |
C |
A |
7: 139,613,588 (GRCm39) |
D30Y |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,932 (GRCm39) |
S162P |
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 |
|
R5502:Gria2
|
UTSW |
3 |
80,614,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AAGATTACAGCCACCTTCTCG -3'
(R):5'- AAGAGACTCTGGGGCTGTTG -3'
Sequencing Primer
(F):5'- GCTGTACCTTCACACGCACG -3'
(R):5'- GGGTGCTAGCATCCCACTCTTATC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation