Incidental Mutation 'R3716:Gria2'
| ID |
259899 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R3716 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
80588757-80710142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80648311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 142
(Y142H)
|
| 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 benign
Transcript: ENSMUST00000075316
AA Change: Y142H
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: Y142H
| 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: Y142H
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: Y142H
| 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: Y142H
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: Y142H
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,363 (GRCm39) |
L690H |
probably damaging |
Het |
| Abtb3 |
C |
T |
10: 85,397,392 (GRCm39) |
H442Y |
probably damaging |
Het |
| Acaa1b |
A |
G |
9: 118,985,709 (GRCm39) |
V72A |
probably benign |
Het |
| Actl7a |
T |
C |
4: 56,744,295 (GRCm39) |
L274P |
possibly damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,508,299 (GRCm39) |
E433G |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Canx |
A |
G |
11: 50,195,301 (GRCm39) |
S256P |
probably benign |
Het |
| Caps2 |
A |
G |
10: 112,036,637 (GRCm39) |
H399R |
probably benign |
Het |
| Col6a6 |
A |
C |
9: 105,659,373 (GRCm39) |
L524R |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dglucy |
A |
T |
12: 100,816,375 (GRCm39) |
N339I |
probably damaging |
Het |
| Dhrs4 |
G |
T |
14: 55,716,362 (GRCm39) |
M1I |
probably null |
Het |
| Disp1 |
A |
T |
1: 182,869,315 (GRCm39) |
L1035Q |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 102,071,999 (GRCm39) |
E260G |
probably damaging |
Het |
| Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,784,457 (GRCm39) |
I779M |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,781 (GRCm39) |
S1971G |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
| Il21r |
A |
G |
7: 125,231,441 (GRCm39) |
K290E |
probably damaging |
Het |
| Inpp5f |
C |
G |
7: 128,292,394 (GRCm39) |
L17V |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,130,646 (GRCm39) |
N421S |
possibly damaging |
Het |
| Krt33a |
A |
C |
11: 99,904,991 (GRCm39) |
C172G |
probably benign |
Het |
| Lrp6 |
A |
T |
6: 134,484,410 (GRCm39) |
H404Q |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,295 (GRCm39) |
T924A |
probably benign |
Het |
| Mepe |
C |
A |
5: 104,485,294 (GRCm39) |
H145N |
probably benign |
Het |
| Mesp2 |
T |
G |
7: 79,462,542 (GRCm39) |
L366R |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,933,174 (GRCm39) |
V997A |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
Het |
| Myo15b |
G |
T |
11: 115,754,239 (GRCm39) |
C913F |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,264,798 (GRCm39) |
V179A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
| Or8i2 |
A |
T |
2: 86,852,707 (GRCm39) |
Y60* |
probably null |
Het |
| Orc1 |
C |
T |
4: 108,471,656 (GRCm39) |
A836V |
probably damaging |
Het |
| Pcdhb6 |
G |
T |
18: 37,469,259 (GRCm39) |
V43L |
probably benign |
Het |
| Prkcd |
G |
T |
14: 30,321,669 (GRCm39) |
D393E |
probably benign |
Het |
| Rb1cc1 |
G |
C |
1: 6,340,914 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
A |
1: 4,419,988 (GRCm39) |
T375S |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,400,582 (GRCm39) |
M731L |
probably benign |
Het |
| Sox21 |
A |
T |
14: 118,472,842 (GRCm39) |
M69K |
probably benign |
Het |
| Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
G |
11: 77,432,636 (GRCm39) |
F726L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,933,389 (GRCm39) |
Y40H |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,532,145 (GRCm39) |
S83T |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
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 |
|
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'- GGGTTCTGAATTCTATCCCTCTGG -3'
(R):5'- TTTTCAAGAGGCGTCTATGCG -3'
Sequencing Primer
(F):5'- GAATTCTATCCCTCTGGACTCTTG -3'
(R):5'- CGATTTTTGGGTTTTACGACAAGAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation