Incidental Mutation 'R2679:Gria2'
| ID |
250716 |
| 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 |
040432-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R2679 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
80588757-80710142 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 80648260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
97% (67/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic2 |
A |
G |
11: 81,042,780 (GRCm39) |
V171A |
probably benign |
Het |
| Atf7ip |
A |
T |
6: 136,543,649 (GRCm39) |
I641L |
possibly damaging |
Het |
| Atrn |
G |
A |
2: 130,803,595 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
T |
C |
2: 153,790,544 (GRCm39) |
I145T |
probably damaging |
Het |
| Bub3 |
A |
G |
7: 131,170,454 (GRCm39) |
|
probably null |
Het |
| Catsperb |
T |
A |
12: 101,429,404 (GRCm39) |
D192E |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 21,944,613 (GRCm39) |
H849Y |
possibly damaging |
Het |
| Cd101 |
G |
T |
3: 100,901,079 (GRCm39) |
Q998K |
probably benign |
Het |
| Cep135 |
A |
T |
5: 76,772,507 (GRCm39) |
M631L |
probably benign |
Het |
| Cit |
T |
C |
5: 116,107,174 (GRCm39) |
V1102A |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,507,332 (GRCm39) |
T249M |
unknown |
Het |
| Cpne6 |
A |
T |
14: 55,753,786 (GRCm39) |
I415F |
possibly damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,485,894 (GRCm39) |
I348V |
probably benign |
Het |
| Defb28 |
T |
C |
2: 152,360,202 (GRCm39) |
S6P |
possibly damaging |
Het |
| Dhrs7b |
A |
G |
11: 60,743,344 (GRCm39) |
|
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,083,910 (GRCm39) |
|
probably null |
Het |
| Egfem1 |
A |
G |
3: 29,724,825 (GRCm39) |
T476A |
probably benign |
Het |
| Enpp5 |
A |
G |
17: 44,396,279 (GRCm39) |
D397G |
probably damaging |
Het |
| Eogt |
G |
A |
6: 97,097,761 (GRCm39) |
T279I |
probably benign |
Het |
| Fnip2 |
G |
A |
3: 79,388,233 (GRCm39) |
H833Y |
probably benign |
Het |
| Gabrr2 |
A |
T |
4: 33,071,435 (GRCm39) |
T92S |
probably damaging |
Het |
| Gm10110 |
T |
A |
14: 90,134,852 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
G |
T |
1: 150,528,326 (GRCm39) |
T3274N |
possibly damaging |
Het |
| Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
| Hspa1b |
T |
C |
17: 35,176,279 (GRCm39) |
K569E |
probably benign |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,372 (GRCm39) |
Y46C |
probably damaging |
Het |
| Itga3 |
A |
T |
11: 94,959,136 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,880,745 (GRCm39) |
R552* |
probably null |
Het |
| Med13 |
A |
G |
11: 86,189,403 (GRCm39) |
S1169P |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,577,846 (GRCm39) |
D2374E |
unknown |
Het |
| Myl9 |
T |
A |
2: 156,622,426 (GRCm39) |
L70Q |
probably damaging |
Het |
| Nebl |
C |
T |
2: 17,429,402 (GRCm39) |
S243N |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,071,546 (GRCm39) |
Y314C |
probably damaging |
Het |
| Nr2f6 |
T |
A |
8: 71,827,380 (GRCm39) |
D307V |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,824,237 (GRCm39) |
S781P |
probably benign |
Het |
| Nub1 |
C |
T |
5: 24,897,923 (GRCm39) |
T103I |
possibly damaging |
Het |
| Or4b1d |
A |
T |
2: 89,968,889 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or51h5 |
T |
A |
7: 102,577,238 (GRCm39) |
Y134* |
probably null |
Het |
| Pex5l |
A |
T |
3: 33,136,201 (GRCm39) |
M6K |
probably benign |
Het |
| Pgm3 |
A |
C |
9: 86,451,374 (GRCm39) |
C93W |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,279,406 (GRCm39) |
S2971P |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,408,782 (GRCm39) |
L2423P |
probably damaging |
Het |
| Prkce |
A |
G |
17: 86,483,654 (GRCm39) |
|
probably benign |
Het |
| Ptbp3 |
A |
G |
4: 59,494,615 (GRCm39) |
|
probably benign |
Het |
| Ptgis |
T |
A |
2: 167,050,113 (GRCm39) |
M339L |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,025,568 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
T |
A |
17: 29,363,451 (GRCm39) |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,581,430 (GRCm39) |
S1275G |
probably benign |
Het |
| Rnf213 |
C |
A |
11: 119,350,764 (GRCm39) |
|
probably null |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,552 (GRCm39) |
E328V |
probably benign |
Het |
| Saraf |
C |
T |
8: 34,632,428 (GRCm39) |
T169I |
probably damaging |
Het |
| Sbk2 |
T |
A |
7: 4,960,119 (GRCm39) |
|
probably null |
Het |
| Setd1a |
T |
G |
7: 127,394,896 (GRCm39) |
|
probably benign |
Het |
| Sit1 |
A |
G |
4: 43,483,157 (GRCm39) |
Y73H |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,142,399 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
A |
T |
3: 94,173,217 (GRCm39) |
Y75F |
probably damaging |
Het |
| Tas2r125 |
A |
G |
6: 132,887,190 (GRCm39) |
T193A |
probably benign |
Het |
| Tbc1d9b |
T |
A |
11: 50,052,528 (GRCm39) |
|
probably null |
Het |
| Tcf7l1 |
G |
T |
6: 72,604,403 (GRCm39) |
H580Q |
probably benign |
Het |
| Tead1 |
T |
G |
7: 112,456,053 (GRCm39) |
S115A |
probably damaging |
Het |
| Top2b |
G |
A |
14: 16,413,947 (GRCm38) |
G29D |
probably damaging |
Het |
| Trpv4 |
A |
T |
5: 114,773,613 (GRCm39) |
C250S |
probably damaging |
Het |
| U2surp |
A |
C |
9: 95,358,285 (GRCm39) |
I655S |
possibly damaging |
Het |
| Ube2a |
G |
A |
X: 36,138,360 (GRCm39) |
|
probably benign |
Het |
| Ubl7 |
A |
G |
9: 57,821,882 (GRCm39) |
D77G |
probably damaging |
Het |
| Vmn1r91 |
T |
C |
7: 19,835,983 (GRCm39) |
C301R |
probably damaging |
Het |
| Vmn2r90 |
A |
T |
17: 17,933,131 (GRCm39) |
R230S |
possibly damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,017,902 (GRCm39) |
E2560V |
probably damaging |
Het |
| Zfp273 |
C |
T |
13: 67,973,895 (GRCm39) |
A341V |
probably benign |
Het |
| Zfp512 |
C |
T |
5: 31,622,798 (GRCm39) |
A33V |
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 |
|
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 |
|
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'- GGTTCTGAATTCTATCCCTCTGGAC -3'
(R):5'- ACCATCACATCATTCTGTGGG -3'
Sequencing Primer
(F):5'- GAATTCTATCCCTCTGGACTCTTG -3'
(R):5'- GGGACACTGCATGTATCCTTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation