Incidental Mutation 'R7009:Gria2'
ID |
544881 |
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 |
045111-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R7009 (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 80614279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 587
(E587G)
|
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: E587G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074787 Gene: ENSMUSG00000033981 AA Change: E587G
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: E587G
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103374 Gene: ENSMUSG00000033981 AA Change: E587G
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: E587G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000141447 Gene: ENSMUSG00000033981 AA Change: E587G
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: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
99% (82/83) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
G |
T |
13: 59,838,624 (GRCm39) |
D69E |
possibly damaging |
Het |
Abat |
A |
C |
16: 8,420,231 (GRCm39) |
M177L |
probably benign |
Het |
Acadvl |
A |
G |
11: 69,905,617 (GRCm39) |
|
probably null |
Het |
Adam5 |
T |
C |
8: 25,296,454 (GRCm39) |
N331S |
probably benign |
Het |
Ager |
A |
G |
17: 34,819,710 (GRCm39) |
E372G |
probably damaging |
Het |
Angpt1 |
T |
A |
15: 42,386,991 (GRCm39) |
Q121L |
possibly damaging |
Het |
Apoa4 |
A |
T |
9: 46,154,178 (GRCm39) |
I260F |
possibly damaging |
Het |
Arhgap32 |
A |
T |
9: 32,157,272 (GRCm39) |
I90F |
probably damaging |
Het |
Arhgap5 |
A |
T |
12: 52,566,422 (GRCm39) |
Q1131L |
probably benign |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Cacna2d3 |
A |
T |
14: 28,691,322 (GRCm39) |
M1K |
probably null |
Het |
Ccdc18 |
G |
A |
5: 108,321,728 (GRCm39) |
|
probably null |
Het |
Ccdc42 |
T |
C |
11: 68,485,442 (GRCm39) |
F267S |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,173,085 (GRCm39) |
Y1700F |
probably damaging |
Het |
Cenpe |
A |
T |
3: 134,940,962 (GRCm39) |
S704C |
probably damaging |
Het |
Cenpe |
G |
A |
3: 134,940,963 (GRCm39) |
S704N |
probably benign |
Het |
Cfap299 |
A |
T |
5: 98,932,379 (GRCm39) |
D193V |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,710,881 (GRCm39) |
S2727T |
unknown |
Het |
Clu |
T |
A |
14: 66,209,281 (GRCm39) |
V113D |
probably damaging |
Het |
Cnbd2 |
A |
G |
2: 156,161,954 (GRCm39) |
I98V |
probably benign |
Het |
Copa |
G |
T |
1: 171,918,567 (GRCm39) |
R97L |
probably damaging |
Het |
Epb41l1 |
C |
A |
2: 156,376,603 (GRCm39) |
|
probably null |
Het |
Etnk1 |
T |
A |
6: 143,148,880 (GRCm39) |
|
probably null |
Het |
Fnip1 |
A |
T |
11: 54,393,761 (GRCm39) |
K732N |
probably damaging |
Het |
G6pd2 |
A |
G |
5: 61,966,234 (GRCm39) |
E3G |
probably benign |
Het |
Gal3st2 |
A |
G |
1: 93,801,481 (GRCm39) |
T95A |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,590,829 (GRCm39) |
S948P |
probably damaging |
Het |
Ggps1 |
A |
T |
13: 14,228,750 (GRCm39) |
Y8* |
probably null |
Het |
Hpse |
T |
C |
5: 100,840,145 (GRCm39) |
E324G |
probably benign |
Het |
Il16 |
G |
A |
7: 83,295,596 (GRCm39) |
T493I |
probably benign |
Het |
Ints1 |
T |
C |
5: 139,754,217 (GRCm39) |
T652A |
possibly damaging |
Het |
Ism1 |
A |
G |
2: 139,599,199 (GRCm39) |
I391V |
probably damaging |
Het |
Katnb1 |
A |
G |
8: 95,825,012 (GRCm39) |
D598G |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,647,441 (GRCm39) |
S880G |
probably benign |
Het |
Klra8 |
T |
C |
6: 130,102,147 (GRCm39) |
N96S |
probably benign |
Het |
Krt79 |
T |
A |
15: 101,839,876 (GRCm39) |
D373V |
probably damaging |
Het |
Lamtor4 |
G |
A |
5: 138,257,374 (GRCm39) |
R92Q |
probably benign |
Het |
Lce1d |
C |
A |
3: 92,593,353 (GRCm39) |
C20F |
unknown |
Het |
Limk1 |
T |
C |
5: 134,701,553 (GRCm39) |
T117A |
probably benign |
Het |
Medag |
A |
T |
5: 149,350,708 (GRCm39) |
K61M |
probably benign |
Het |
Mkrn3 |
T |
C |
7: 62,069,366 (GRCm39) |
M142V |
probably benign |
Het |
Mob3c |
G |
A |
4: 115,688,779 (GRCm39) |
R104H |
probably benign |
Het |
Morc1 |
G |
T |
16: 48,447,433 (GRCm39) |
R903L |
possibly damaging |
Het |
Myh6 |
T |
C |
14: 55,189,749 (GRCm39) |
E1099G |
probably damaging |
Het |
Nphp3 |
T |
G |
9: 103,893,315 (GRCm39) |
C434G |
probably null |
Het |
Npr3 |
C |
T |
15: 11,905,334 (GRCm39) |
C131Y |
probably damaging |
Het |
Oacyl |
C |
A |
18: 65,855,609 (GRCm39) |
Y112* |
probably null |
Het |
Oprl1 |
A |
G |
2: 181,360,174 (GRCm39) |
T77A |
probably damaging |
Het |
Osgep |
A |
G |
14: 51,162,165 (GRCm39) |
V24A |
probably damaging |
Het |
Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,101,581 (GRCm39) |
L922P |
probably benign |
Het |
Pgap4 |
A |
T |
4: 49,586,325 (GRCm39) |
M281K |
probably benign |
Het |
Phldb1 |
A |
G |
9: 44,605,705 (GRCm39) |
V375A |
probably damaging |
Het |
Pip5k1b |
C |
T |
19: 24,337,299 (GRCm39) |
|
probably null |
Het |
Psmd3 |
G |
A |
11: 98,573,592 (GRCm39) |
D13N |
probably benign |
Het |
Ptprc |
G |
A |
1: 137,992,291 (GRCm39) |
H1140Y |
probably damaging |
Het |
Ranbp3l |
A |
T |
15: 9,063,064 (GRCm39) |
H291L |
probably damaging |
Het |
Rasa4 |
T |
A |
5: 136,130,217 (GRCm39) |
D324E |
probably damaging |
Het |
Rilpl1 |
T |
A |
5: 124,641,755 (GRCm39) |
|
silent |
Het |
Rin2 |
A |
C |
2: 145,725,395 (GRCm39) |
D794A |
probably damaging |
Het |
Ripk1 |
A |
G |
13: 34,214,045 (GRCm39) |
I522M |
probably damaging |
Het |
Rnf31 |
T |
C |
14: 55,830,008 (GRCm39) |
Y143H |
probably benign |
Het |
Rp1 |
T |
G |
1: 4,112,291 (GRCm39) |
I1187L |
unknown |
Het |
Rps6ka5 |
G |
A |
12: 100,585,796 (GRCm39) |
H166Y |
probably damaging |
Het |
Rrm1 |
T |
C |
7: 102,109,541 (GRCm39) |
V455A |
probably damaging |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scn5a |
T |
G |
9: 119,314,996 (GRCm39) |
E1904A |
probably damaging |
Het |
Sec16a |
G |
T |
2: 26,326,014 (GRCm39) |
S240* |
probably null |
Het |
Slc22a8 |
C |
T |
19: 8,582,781 (GRCm39) |
T154I |
probably benign |
Het |
Slc25a16 |
T |
A |
10: 62,773,233 (GRCm39) |
V156E |
possibly damaging |
Het |
Slc28a3 |
A |
T |
13: 58,758,618 (GRCm39) |
S2T |
probably benign |
Het |
Srd5a3 |
G |
A |
5: 76,297,713 (GRCm39) |
V48I |
probably benign |
Het |
Srebf1 |
A |
C |
11: 60,091,352 (GRCm39) |
H1025Q |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,527,672 (GRCm39) |
K1310E |
probably benign |
Het |
Swt1 |
A |
G |
1: 151,246,381 (GRCm39) |
V848A |
possibly damaging |
Het |
Tanc2 |
A |
T |
11: 105,731,525 (GRCm39) |
T434S |
possibly damaging |
Het |
Tcf20 |
G |
A |
15: 82,738,883 (GRCm39) |
T856I |
probably benign |
Het |
Tcf7l2 |
T |
C |
19: 55,883,165 (GRCm39) |
|
probably null |
Het |
Trim45 |
A |
G |
3: 100,839,195 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
T |
A |
6: 115,524,933 (GRCm39) |
M44K |
possibly damaging |
Het |
Ttc21a |
T |
A |
9: 119,787,139 (GRCm39) |
C715* |
probably null |
Het |
Vmn2r102 |
G |
A |
17: 19,914,456 (GRCm39) |
V674I |
probably damaging |
Het |
Zfp87 |
A |
G |
13: 67,665,173 (GRCm39) |
S430P |
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 |
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'- GCAGCTGCTGACATCTTTATAG -3'
(R):5'- GAAGCCATTCATGAGCCTTG -3'
Sequencing Primer
(F):5'- GCTGCTGACATCTTTATAGTGAATTC -3'
(R):5'- GAAGCCATTCATGAGCCTTGGAATC -3'
|
Posted On |
2019-05-13 |