Incidental Mutation 'R6720:Gria2'
ID |
529526 |
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 |
044838-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R6720 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
80588757-80710142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80709611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 27
(I27M)
|
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: I27M
PolyPhen 2
Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000074787 Gene: ENSMUSG00000033981 AA Change: I27M
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
AA Change: I27M
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103374 Gene: ENSMUSG00000033981 AA Change: I27M
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 benign
Transcript: ENSMUST00000192463
AA Change: I27M
PolyPhen 2
Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000141447 Gene: ENSMUSG00000033981 AA Change: I27M
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: ENSMUST00000194164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194383
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195062
|
Meta Mutation Damage Score |
0.0836 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.6%
|
Validation Efficiency |
98% (50/51) |
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 |
1700013G24Rik |
G |
A |
4: 137,181,997 (GRCm39) |
E51K |
possibly damaging |
Het |
Abca1 |
A |
C |
4: 53,083,733 (GRCm39) |
L700R |
probably damaging |
Het |
Arpc1a |
C |
A |
5: 145,038,032 (GRCm39) |
|
probably null |
Het |
Baz2b |
G |
T |
2: 59,755,234 (GRCm39) |
P241Q |
probably damaging |
Het |
Cd6 |
T |
A |
19: 10,771,973 (GRCm39) |
T414S |
probably benign |
Het |
Ces2b |
A |
T |
8: 105,563,501 (GRCm39) |
E409D |
probably benign |
Het |
Cfap54 |
A |
G |
10: 92,656,981 (GRCm39) |
Y3024H |
probably benign |
Het |
Chrm1 |
A |
G |
19: 8,655,912 (GRCm39) |
T206A |
probably benign |
Het |
Clptm1l |
T |
C |
13: 73,766,635 (GRCm39) |
W512R |
probably damaging |
Het |
Col15a1 |
T |
A |
4: 47,247,552 (GRCm39) |
|
probably null |
Het |
Cox15 |
A |
G |
19: 43,725,228 (GRCm39) |
S392P |
probably damaging |
Het |
Cplx3 |
A |
G |
9: 57,521,355 (GRCm39) |
|
probably null |
Het |
Cr2 |
T |
C |
1: 194,837,508 (GRCm39) |
M1197V |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,453,723 (GRCm39) |
K1281E |
probably benign |
Het |
Dnah11 |
A |
G |
12: 118,009,381 (GRCm39) |
F2094L |
probably damaging |
Het |
Ear2 |
T |
A |
14: 44,340,416 (GRCm39) |
C25S |
probably damaging |
Het |
Ect2l |
T |
C |
10: 18,016,012 (GRCm39) |
D802G |
probably damaging |
Het |
Eftud2 |
G |
A |
11: 102,729,449 (GRCm39) |
Q84* |
probably null |
Het |
Eif4g3 |
T |
A |
4: 137,903,143 (GRCm39) |
|
probably null |
Het |
Ephb2 |
T |
C |
4: 136,384,813 (GRCm39) |
D866G |
probably damaging |
Het |
Farsb |
A |
G |
1: 78,449,134 (GRCm39) |
M99T |
probably damaging |
Het |
Foxs1 |
T |
A |
2: 152,774,640 (GRCm39) |
S138C |
probably damaging |
Het |
Frem1 |
T |
G |
4: 82,932,069 (GRCm39) |
S211R |
probably damaging |
Het |
Gm19410 |
G |
A |
8: 36,274,730 (GRCm39) |
R1517Q |
probably benign |
Het |
H2-Q7 |
A |
G |
17: 35,661,654 (GRCm39) |
E299G |
probably benign |
Het |
Hao2 |
T |
G |
3: 98,784,451 (GRCm39) |
I305L |
probably benign |
Het |
Hectd4 |
C |
T |
5: 121,445,444 (GRCm39) |
Q122* |
probably null |
Het |
Hivep1 |
T |
A |
13: 42,317,760 (GRCm39) |
C2079S |
probably damaging |
Het |
Hoxb1 |
C |
A |
11: 96,257,813 (GRCm39) |
Q248K |
probably damaging |
Het |
Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
Ighv5-2 |
T |
A |
12: 113,542,126 (GRCm39) |
R117S |
probably damaging |
Het |
Ino80d |
A |
C |
1: 63,097,769 (GRCm39) |
S708R |
probably damaging |
Het |
Mmp15 |
A |
G |
8: 96,091,942 (GRCm39) |
N51D |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,559,585 (GRCm39) |
M1140V |
probably benign |
Het |
Niban2 |
T |
A |
2: 32,795,838 (GRCm39) |
V22D |
probably damaging |
Het |
Or1e1f |
A |
G |
11: 73,856,291 (GRCm39) |
N286D |
probably damaging |
Het |
Or2y8 |
A |
G |
11: 52,035,520 (GRCm39) |
V279A |
probably benign |
Het |
Or8b41 |
T |
A |
9: 38,054,449 (GRCm39) |
M1K |
probably null |
Het |
Or8k21 |
A |
G |
2: 86,145,409 (GRCm39) |
S74P |
probably damaging |
Het |
Pard3b |
A |
T |
1: 62,198,629 (GRCm39) |
N239I |
probably damaging |
Het |
Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
Pcdha9 |
T |
C |
18: 37,131,122 (GRCm39) |
S64P |
probably damaging |
Het |
Pdcd1 |
T |
C |
1: 93,969,114 (GRCm39) |
N68S |
probably benign |
Het |
Pi4ka |
G |
T |
16: 17,143,916 (GRCm39) |
|
probably null |
Het |
Plekha4 |
A |
T |
7: 45,190,310 (GRCm39) |
D359V |
possibly damaging |
Het |
Serpinb13 |
A |
G |
1: 106,921,792 (GRCm39) |
I78V |
probably benign |
Het |
Slc39a7 |
T |
A |
17: 34,249,082 (GRCm39) |
T269S |
probably benign |
Het |
Sltm |
T |
G |
9: 70,480,992 (GRCm39) |
D281E |
probably damaging |
Het |
Zfp708 |
T |
C |
13: 67,219,496 (GRCm39) |
Y76C |
probably damaging |
Het |
Zfp990 |
T |
A |
4: 145,263,497 (GRCm39) |
V165D |
possibly 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 |
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'- ACCCGGTCAGAAATGAACAG -3'
(R):5'- TGCAGAGGATCTAATTTGCTGAGG -3'
Sequencing Primer
(F):5'- CCCCTCTATTGTGTCAAAAGGCATAG -3'
(R):5'- CTAATTTGCTGAGGAAAACGGTC -3'
|
Posted On |
2018-08-01 |