Incidental Mutation 'R6526:Gria2'
| ID |
521807 |
| 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 |
044652-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R6526 (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 T
at 80599776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 703
(F703I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103374
(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: F703I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: F703I
| 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 damaging
Transcript: ENSMUST00000107745
AA Change: F703I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: F703I
| 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 damaging
Transcript: ENSMUST00000192463
AA Change: F703I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: F703I
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.5%
|
| Validation Efficiency |
100% (72/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,331 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
C |
T |
11: 94,250,198 (GRCm39) |
G975D |
probably benign |
Het |
| Abhd13 |
G |
A |
8: 10,037,777 (GRCm39) |
G125S |
probably damaging |
Het |
| Ache |
T |
A |
5: 137,288,906 (GRCm39) |
L204Q |
probably damaging |
Het |
| Acnat2 |
A |
G |
4: 49,383,497 (GRCm39) |
S19P |
probably benign |
Het |
| Adprh |
A |
G |
16: 38,267,638 (GRCm39) |
Y216H |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,514,055 (GRCm39) |
K429* |
probably null |
Het |
| Anxa13 |
T |
C |
15: 58,208,353 (GRCm39) |
|
noncoding transcript |
Het |
| Aprt |
A |
C |
8: 123,303,555 (GRCm39) |
L6W |
probably damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,840,820 (GRCm39) |
T569A |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,914,999 (GRCm39) |
L1139P |
probably benign |
Het |
| Atp2b4 |
A |
G |
1: 133,639,467 (GRCm39) |
S1136P |
probably damaging |
Het |
| B9d1 |
T |
A |
11: 61,399,923 (GRCm39) |
Y90* |
probably null |
Het |
| Btla |
G |
A |
16: 45,059,457 (GRCm39) |
A54T |
probably damaging |
Het |
| Cd63 |
T |
C |
10: 128,747,358 (GRCm39) |
V35A |
probably benign |
Het |
| Chek2 |
T |
C |
5: 110,996,556 (GRCm39) |
F173L |
probably damaging |
Het |
| Cntnap3 |
T |
A |
13: 64,929,702 (GRCm39) |
N499I |
possibly damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,418 (GRCm39) |
L738P |
probably damaging |
Het |
| Cops6 |
T |
C |
5: 138,162,162 (GRCm39) |
|
probably null |
Het |
| Cpeb1 |
T |
A |
7: 81,011,417 (GRCm39) |
I175F |
probably benign |
Het |
| Cyp3a16 |
C |
T |
5: 145,392,705 (GRCm39) |
D174N |
probably benign |
Het |
| Dnah6 |
T |
G |
6: 73,051,687 (GRCm39) |
I2984L |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,564,068 (GRCm39) |
I540N |
probably damaging |
Het |
| Elf5 |
A |
G |
2: 103,269,578 (GRCm39) |
Y53C |
probably damaging |
Het |
| Elmod2 |
T |
C |
8: 84,046,086 (GRCm39) |
T164A |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,798,812 (GRCm39) |
|
probably null |
Het |
| Epn3 |
A |
G |
11: 94,385,758 (GRCm39) |
|
probably null |
Het |
| Fam151a |
A |
T |
4: 106,591,201 (GRCm39) |
I15F |
possibly damaging |
Het |
| Gm11115 |
T |
A |
5: 88,301,909 (GRCm39) |
|
probably null |
Het |
| Golga3 |
T |
A |
5: 110,352,761 (GRCm39) |
I884N |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gtpbp2 |
A |
T |
17: 46,475,037 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,807,078 (GRCm39) |
S2419P |
probably damaging |
Het |
| Inpp5d |
T |
C |
1: 87,603,972 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,099,532 (GRCm39) |
V136F |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,198,839 (GRCm39) |
D234V |
probably benign |
Het |
| Lct |
A |
T |
1: 128,228,215 (GRCm39) |
S1093T |
probably benign |
Het |
| Marchf9 |
A |
G |
10: 126,892,558 (GRCm39) |
L310P |
probably benign |
Het |
| Morc1 |
G |
T |
16: 48,407,487 (GRCm39) |
E668* |
probably null |
Het |
| Nbas |
A |
T |
12: 13,455,426 (GRCm39) |
L1213F |
probably damaging |
Het |
| Neto1 |
A |
G |
18: 86,516,873 (GRCm39) |
T397A |
possibly damaging |
Het |
| Oit3 |
A |
G |
10: 59,265,462 (GRCm39) |
C268R |
probably damaging |
Het |
| Or5p55 |
A |
G |
7: 107,566,669 (GRCm39) |
T22A |
probably benign |
Het |
| Pcx |
T |
C |
19: 4,654,523 (GRCm39) |
F312L |
probably benign |
Het |
| Pitx2 |
T |
C |
3: 129,008,432 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
G |
A |
15: 44,361,485 (GRCm39) |
|
probably null |
Het |
| Polr1a |
C |
A |
6: 71,906,427 (GRCm39) |
D414E |
possibly damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,384 (GRCm39) |
D323G |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,749,549 (GRCm39) |
Y381H |
probably damaging |
Het |
| Ptger3 |
T |
A |
3: 157,273,139 (GRCm39) |
V162E |
probably damaging |
Het |
| Ptgr2 |
T |
G |
12: 84,360,726 (GRCm39) |
M332R |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,378,514 (GRCm39) |
S2009* |
probably null |
Het |
| Pwwp3a |
A |
G |
10: 80,068,113 (GRCm39) |
T86A |
probably benign |
Het |
| Rangrf |
C |
T |
11: 68,864,514 (GRCm39) |
G11R |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,823,467 (GRCm39) |
Q465L |
probably benign |
Het |
| Rhbdd1 |
A |
T |
1: 82,318,380 (GRCm39) |
M88L |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,361,785 (GRCm39) |
M13I |
probably benign |
Het |
| Sirpb1a |
T |
C |
3: 15,444,080 (GRCm39) |
Y384C |
probably damaging |
Het |
| Slc13a1 |
C |
T |
6: 24,097,611 (GRCm39) |
G439S |
probably damaging |
Het |
| Slc41a1 |
T |
A |
1: 131,768,887 (GRCm39) |
I239N |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,461,509 (GRCm39) |
C1502S |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,552,119 (GRCm39) |
E888K |
probably benign |
Het |
| Srrm3 |
G |
T |
5: 135,864,088 (GRCm39) |
R62L |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,331 (GRCm39) |
V777A |
possibly damaging |
Het |
| Trmt13 |
T |
A |
3: 116,385,864 (GRCm39) |
N31I |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,289,720 (GRCm39) |
E893K |
probably damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,693,343 (GRCm39) |
F197S |
probably damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,598 (GRCm39) |
N287K |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,381,098 (GRCm39) |
M265K |
probably benign |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Xdh |
C |
A |
17: 74,207,546 (GRCm39) |
C937F |
probably damaging |
Het |
| Zfp846 |
T |
A |
9: 20,505,167 (GRCm39) |
N342K |
probably benign |
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 |
|
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'- GGTGGGATACTATAACAACATTGAGC -3'
(R):5'- TCCTGGGCACTACTGTGTAAG -3'
Sequencing Primer
(F):5'- TATACTATTCCACCCACCTTAATGAG -3'
(R):5'- TACTGTGTAAGCACCGAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation