Incidental Mutation 'R6317:Gria2'
ID |
510018 |
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 |
044417-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R6317 (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 C
at 80648311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 142
(Y142D)
|
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: Y142D
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000074787 Gene: ENSMUSG00000033981 AA Change: Y142D
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: Y142D
PolyPhen 2
Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103374 Gene: ENSMUSG00000033981 AA Change: Y142D
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: Y142D
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141447 Gene: ENSMUSG00000033981 AA Change: Y142D
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
100% (62/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
T |
C |
18: 70,601,264 (GRCm39) |
N206S |
probably damaging |
Het |
Abcf2 |
A |
T |
5: 24,774,156 (GRCm39) |
Y315* |
probably null |
Het |
Adck1 |
T |
G |
12: 88,368,921 (GRCm39) |
V133G |
probably damaging |
Het |
Aoc2 |
T |
C |
11: 101,216,292 (GRCm39) |
F125S |
probably damaging |
Het |
As3mt |
A |
G |
19: 46,713,410 (GRCm39) |
D319G |
probably benign |
Het |
Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
Baz1a |
T |
C |
12: 55,001,585 (GRCm39) |
Q145R |
possibly damaging |
Het |
Bhlhe22 |
A |
G |
3: 18,109,778 (GRCm39) |
E276G |
probably damaging |
Het |
Cdo1 |
C |
A |
18: 46,861,104 (GRCm39) |
V36L |
probably benign |
Het |
Ces1h |
A |
G |
8: 94,084,046 (GRCm39) |
F388S |
unknown |
Het |
Col6a5 |
T |
A |
9: 105,766,266 (GRCm39) |
N1885Y |
probably damaging |
Het |
Corin |
A |
T |
5: 72,496,388 (GRCm39) |
C522S |
probably damaging |
Het |
Csmd1 |
G |
T |
8: 16,760,658 (GRCm39) |
T159K |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,504,802 (GRCm39) |
L1977H |
probably benign |
Het |
Cwc27 |
T |
A |
13: 104,940,769 (GRCm39) |
K197* |
probably null |
Het |
Cyp20a1 |
T |
C |
1: 60,391,283 (GRCm39) |
S26P |
probably damaging |
Het |
Daxx |
T |
A |
17: 34,130,949 (GRCm39) |
D321E |
probably damaging |
Het |
Gspt1 |
T |
C |
16: 11,041,072 (GRCm39) |
|
probably null |
Het |
Ighv1-80 |
A |
T |
12: 115,876,265 (GRCm39) |
V17D |
probably damaging |
Het |
Ints4 |
T |
A |
7: 97,178,425 (GRCm39) |
L675* |
probably null |
Het |
Kif13a |
C |
T |
13: 46,980,233 (GRCm39) |
R173Q |
probably damaging |
Het |
Map3k2 |
T |
C |
18: 32,336,086 (GRCm39) |
I91T |
probably damaging |
Het |
Map3k8 |
A |
G |
18: 4,348,979 (GRCm39) |
|
probably null |
Het |
Mcemp1 |
G |
A |
8: 3,717,284 (GRCm39) |
W101* |
probably null |
Het |
Naca |
T |
C |
10: 127,879,993 (GRCm39) |
I1675T |
probably benign |
Het |
Nol9 |
T |
C |
4: 152,125,514 (GRCm39) |
F155S |
probably damaging |
Het |
Obscn |
C |
A |
11: 58,960,721 (GRCm39) |
D3406Y |
probably damaging |
Het |
Obsl1 |
A |
G |
1: 75,466,273 (GRCm39) |
V1485A |
possibly damaging |
Het |
Oga |
A |
T |
19: 45,760,119 (GRCm39) |
|
probably null |
Het |
Or8a1 |
T |
C |
9: 37,641,725 (GRCm39) |
K185E |
possibly damaging |
Het |
Otog |
C |
A |
7: 45,950,639 (GRCm39) |
P337H |
probably damaging |
Het |
Patl1 |
T |
C |
19: 11,898,242 (GRCm39) |
L140P |
probably damaging |
Het |
Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
Pex11g |
G |
T |
8: 3,514,092 (GRCm39) |
D23E |
probably damaging |
Het |
Phactr2 |
A |
T |
10: 13,137,626 (GRCm39) |
M172K |
probably damaging |
Het |
Plce1 |
G |
A |
19: 38,512,974 (GRCm39) |
W91* |
probably null |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Podn |
A |
G |
4: 107,884,357 (GRCm39) |
F44S |
probably damaging |
Het |
Polr3e |
A |
G |
7: 120,527,205 (GRCm39) |
D87G |
possibly damaging |
Het |
Prmt2 |
T |
A |
10: 76,058,351 (GRCm39) |
I153F |
probably benign |
Het |
Prpf6 |
T |
C |
2: 181,273,229 (GRCm39) |
V258A |
probably benign |
Het |
Ptpn21 |
G |
T |
12: 98,655,521 (GRCm39) |
A482E |
probably damaging |
Het |
Qrich1 |
A |
T |
9: 108,411,491 (GRCm39) |
N339Y |
probably damaging |
Het |
Rabgap1 |
T |
A |
2: 37,432,659 (GRCm39) |
V750D |
possibly damaging |
Het |
Reg3d |
G |
A |
6: 78,354,428 (GRCm39) |
P58S |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,112,212 (GRCm39) |
L1213P |
unknown |
Het |
Sema6b |
A |
G |
17: 56,431,047 (GRCm39) |
L872S |
probably benign |
Het |
Serpinb7 |
T |
C |
1: 107,379,436 (GRCm39) |
I281T |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,838,821 (GRCm39) |
V685A |
possibly damaging |
Het |
Slc28a2 |
A |
G |
2: 122,284,980 (GRCm39) |
I323V |
possibly damaging |
Het |
Slc7a6 |
A |
T |
8: 106,919,099 (GRCm39) |
I228F |
probably damaging |
Het |
Slc9a9 |
A |
G |
9: 94,821,512 (GRCm39) |
T300A |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,068,653 (GRCm39) |
N2151S |
probably damaging |
Het |
Sult2a1 |
T |
A |
7: 13,569,945 (GRCm39) |
I96L |
probably benign |
Het |
Tgm2 |
T |
C |
2: 157,966,070 (GRCm39) |
D528G |
probably benign |
Het |
Ubl7 |
T |
C |
9: 57,818,456 (GRCm39) |
|
probably null |
Het |
Vcan |
T |
A |
13: 89,839,716 (GRCm39) |
I983L |
probably benign |
Het |
Vmn1r172 |
T |
C |
7: 23,359,742 (GRCm39) |
L209P |
probably damaging |
Het |
Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
Vmn1r3 |
T |
C |
4: 3,184,993 (GRCm39) |
S105G |
probably benign |
Het |
Zfp644 |
A |
T |
5: 106,783,711 (GRCm39) |
H945Q |
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 |
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'- ACTGGGTTCTGAATTCTATCCC -3'
(R):5'- TTTTCAAGAGGCGTCTATGCG -3'
Sequencing Primer
(F):5'- GGGTTCTGAATTCTATCCCTCTGGAC -3'
(R):5'- CGATTTTTGGGTTTTACGACAAGAAG -3'
|
Posted On |
2018-04-02 |