Incidental Mutation 'R1563:Gria2'
| ID |
170730 |
| 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 |
039602-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R1563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
80588757-80710142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 80598704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 777
(Q777K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074787
(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: Q777K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: Q777K
| 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 benign
Transcript: ENSMUST00000107745
|
| SMART Domains |
Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
| 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 |
noncoding transcript
Transcript: ENSMUST00000175485
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192463
|
| SMART Domains |
Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
| 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: ENSMUST00000194383
|
| Meta Mutation Damage Score |
0.1171 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
98% (82/84) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,001,569 (GRCm39) |
M22T |
probably benign |
Het |
| A930018M24Rik |
A |
G |
14: 51,134,576 (GRCm39) |
L22P |
probably damaging |
Het |
| Aipl1 |
A |
T |
11: 71,927,538 (GRCm39) |
M59K |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,589,747 (GRCm39) |
I1835V |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,274,056 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,205,389 (GRCm39) |
V115A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,554,361 (GRCm39) |
M685K |
probably damaging |
Het |
| Cdh10 |
T |
A |
15: 18,986,853 (GRCm39) |
Y361* |
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,296,981 (GRCm39) |
C219Y |
probably damaging |
Het |
| Cpeb2 |
G |
A |
5: 43,443,080 (GRCm39) |
V924M |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,745,411 (GRCm39) |
E138G |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,748,441 (GRCm39) |
Y346C |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,854,638 (GRCm39) |
L100Q |
probably benign |
Het |
| Dnajc6 |
A |
C |
4: 101,456,334 (GRCm39) |
N76T |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,009,231 (GRCm39) |
L954P |
probably damaging |
Het |
| Eral1 |
A |
T |
11: 77,966,232 (GRCm39) |
D315E |
probably benign |
Het |
| Fbln2 |
G |
T |
6: 91,240,365 (GRCm39) |
E724* |
probably null |
Het |
| Fyco1 |
A |
G |
9: 123,656,247 (GRCm39) |
|
probably benign |
Het |
| Fzd3 |
T |
A |
14: 65,473,173 (GRCm39) |
E198D |
probably damaging |
Het |
| Fzd9 |
T |
C |
5: 135,279,408 (GRCm39) |
N159S |
probably damaging |
Het |
| Galnt6 |
T |
A |
15: 100,601,259 (GRCm39) |
Q340L |
probably benign |
Het |
| Gm20939 |
C |
T |
17: 95,184,522 (GRCm39) |
A390V |
probably damaging |
Het |
| Gm5435 |
T |
G |
12: 82,542,464 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9949 |
A |
C |
18: 62,317,089 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,582,984 (GRCm39) |
T295I |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Haao |
T |
C |
17: 84,142,318 (GRCm39) |
T174A |
probably benign |
Het |
| Hes6 |
A |
T |
1: 91,340,858 (GRCm39) |
M1K |
probably null |
Het |
| Hook3 |
G |
T |
8: 26,600,780 (GRCm39) |
Q43K |
probably benign |
Het |
| Klhl35 |
T |
C |
7: 99,120,902 (GRCm39) |
V390A |
probably damaging |
Het |
| Myh9 |
G |
T |
15: 77,656,057 (GRCm39) |
T1151K |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,981,668 (GRCm39) |
I587F |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,704,408 (GRCm39) |
D696G |
probably damaging |
Het |
| Niban1 |
A |
T |
1: 151,591,424 (GRCm39) |
Y522F |
possibly damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,311,724 (GRCm39) |
D52G |
probably damaging |
Het |
| Oit3 |
G |
T |
10: 59,263,896 (GRCm39) |
R413S |
probably damaging |
Het |
| Or4k48 |
T |
A |
2: 111,476,027 (GRCm39) |
H105L |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,273,580 (GRCm39) |
M300V |
probably benign |
Het |
| Otof |
T |
C |
5: 30,528,349 (GRCm39) |
T1870A |
probably benign |
Het |
| Pdgfd |
T |
C |
9: 6,293,939 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
T |
C |
13: 6,613,506 (GRCm39) |
V526A |
possibly damaging |
Het |
| Pknox1 |
T |
C |
17: 31,814,256 (GRCm39) |
S194P |
probably damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,181,266 (GRCm39) |
S8P |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,807,416 (GRCm39) |
E157G |
probably damaging |
Het |
| Psmd3 |
C |
T |
11: 98,585,051 (GRCm39) |
R466W |
probably damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,967,967 (GRCm39) |
F542S |
possibly damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,135,214 (GRCm39) |
M393L |
possibly damaging |
Het |
| Qpct |
T |
A |
17: 79,371,492 (GRCm39) |
S87T |
probably benign |
Het |
| Qtrt1 |
T |
A |
9: 21,330,607 (GRCm39) |
V269D |
probably benign |
Het |
| Rassf9 |
C |
G |
10: 102,380,821 (GRCm39) |
R68G |
probably damaging |
Het |
| Relch |
A |
G |
1: 105,647,259 (GRCm39) |
Y707C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,963,235 (GRCm39) |
E25G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,352 (GRCm39) |
F528L |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,823,457 (GRCm39) |
S693P |
probably benign |
Het |
| She |
A |
G |
3: 89,761,921 (GRCm39) |
D460G |
probably benign |
Het |
| Sipa1l1 |
G |
T |
12: 82,387,935 (GRCm39) |
V54L |
probably benign |
Het |
| Slc8a3 |
T |
A |
12: 81,251,781 (GRCm39) |
D640V |
possibly damaging |
Het |
| Smurf1 |
T |
A |
5: 144,819,323 (GRCm39) |
E601D |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Synpo2l |
A |
G |
14: 20,711,346 (GRCm39) |
S425P |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,421,454 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcf23 |
A |
T |
5: 31,126,175 (GRCm39) |
H18L |
probably benign |
Het |
| Tcp11l2 |
A |
G |
10: 84,420,808 (GRCm39) |
S16G |
probably damaging |
Het |
| Tekt2 |
T |
A |
4: 126,217,200 (GRCm39) |
M233L |
probably benign |
Het |
| Tex14 |
T |
C |
11: 87,427,634 (GRCm39) |
S29P |
probably damaging |
Het |
| Tjp2 |
T |
A |
19: 24,110,067 (GRCm39) |
N59I |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,802,575 (GRCm39) |
M626I |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,952,985 (GRCm39) |
V685D |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trhr |
G |
A |
15: 44,060,497 (GRCm39) |
V6I |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,032,158 (GRCm39) |
R301Q |
probably benign |
Het |
| Usp51 |
T |
C |
X: 151,790,988 (GRCm39) |
I194T |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,550 (GRCm39) |
S569P |
probably benign |
Het |
| Vps26a |
T |
G |
10: 62,300,459 (GRCm39) |
I236L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,330,718 (GRCm39) |
M882V |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,545 (GRCm39) |
V1813A |
probably benign |
Het |
| Zswim2 |
C |
T |
2: 83,745,626 (GRCm39) |
G604D |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,739,559 (GRCm39) |
Q669* |
probably null |
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 |
|
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 |
|
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'- GAAAGGAGAACAGTGTCCTGCTCATC -3'
(R):5'- CCGCACACAGACTAAGGAAATGGTTG -3'
Sequencing Primer
(F):5'- gAACAGTGTCCTGCTCATCAAATTG -3'
(R):5'- AAATCTGCTCACCCTGTCTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation