Incidental Mutation 'R4706:Gria2'
ID |
355202 |
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 |
041954-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R4706 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
80588757-80710142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80648297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 146
(D146E)
|
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: D146E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074787 Gene: ENSMUSG00000033981 AA Change: D146E
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: D146E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103374 Gene: ENSMUSG00000033981 AA Change: D146E
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: D146E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141447 Gene: ENSMUSG00000033981 AA Change: D146E
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: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,064,988 (GRCm39) |
N548K |
probably damaging |
Het |
Abcd2 |
T |
C |
15: 91,043,385 (GRCm39) |
D601G |
probably benign |
Het |
Afap1l2 |
A |
T |
19: 56,925,672 (GRCm39) |
I152N |
possibly damaging |
Het |
Ankrd52 |
T |
G |
10: 128,214,030 (GRCm39) |
M62R |
probably benign |
Het |
Aox4 |
A |
T |
1: 58,305,946 (GRCm39) |
T1317S |
probably damaging |
Het |
Apol7c |
T |
A |
15: 77,409,923 (GRCm39) |
Q341L |
probably benign |
Het |
Arhgef4 |
C |
T |
1: 34,771,298 (GRCm39) |
R1202W |
probably benign |
Het |
B4galnt2 |
C |
T |
11: 95,766,923 (GRCm39) |
|
probably null |
Het |
Cecr2 |
A |
T |
6: 120,732,539 (GRCm39) |
E477V |
possibly damaging |
Het |
Chmp7 |
A |
T |
14: 69,956,010 (GRCm39) |
D419E |
probably benign |
Het |
Cmip |
A |
C |
8: 118,103,893 (GRCm39) |
K127T |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,438,544 (GRCm39) |
V3041A |
probably benign |
Het |
Cyp1b1 |
T |
A |
17: 80,020,771 (GRCm39) |
I324F |
possibly damaging |
Het |
Dapp1 |
T |
C |
3: 137,638,928 (GRCm39) |
D225G |
probably benign |
Het |
Ddx10 |
T |
C |
9: 53,145,231 (GRCm39) |
T249A |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,361,878 (GRCm39) |
Y213H |
probably damaging |
Het |
Eef1a2 |
T |
C |
2: 180,797,150 (GRCm39) |
D17G |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,212,069 (GRCm39) |
I848V |
probably benign |
Het |
Fbxw18 |
A |
G |
9: 109,519,585 (GRCm39) |
I307T |
probably benign |
Het |
Fxr1 |
T |
A |
3: 34,118,278 (GRCm39) |
D500E |
probably damaging |
Het |
Gars1 |
G |
A |
6: 55,046,363 (GRCm39) |
G492D |
probably damaging |
Het |
Gstz1 |
A |
G |
12: 87,205,894 (GRCm39) |
N37S |
probably benign |
Het |
Hnrnph3 |
C |
A |
10: 62,853,059 (GRCm39) |
G194V |
probably damaging |
Het |
Il2rb |
T |
C |
15: 78,370,600 (GRCm39) |
R172G |
possibly damaging |
Het |
Itga11 |
T |
A |
9: 62,662,578 (GRCm39) |
V517D |
possibly damaging |
Het |
Kcnq4 |
A |
G |
4: 120,561,683 (GRCm39) |
I462T |
probably benign |
Het |
Klf6 |
T |
A |
13: 5,911,639 (GRCm39) |
M1K |
probably null |
Het |
Lrp8 |
G |
A |
4: 107,718,470 (GRCm39) |
A817T |
probably benign |
Het |
Map3k5 |
T |
A |
10: 19,934,684 (GRCm39) |
Y509N |
probably damaging |
Het |
Mdc1 |
C |
T |
17: 36,163,671 (GRCm39) |
S1073F |
probably damaging |
Het |
Mme |
A |
G |
3: 63,256,133 (GRCm39) |
D531G |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mroh7 |
A |
T |
4: 106,548,821 (GRCm39) |
V1014E |
possibly damaging |
Het |
Msantd5l |
A |
T |
11: 51,144,668 (GRCm39) |
F204L |
possibly damaging |
Het |
Myo1d |
C |
T |
11: 80,557,467 (GRCm39) |
C491Y |
probably damaging |
Het |
Ncoa3 |
C |
A |
2: 165,889,799 (GRCm39) |
D61E |
probably damaging |
Het |
Nmrk1 |
A |
G |
19: 18,622,491 (GRCm39) |
E190G |
probably benign |
Het |
Nr4a2 |
G |
T |
2: 57,002,225 (GRCm39) |
P13H |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,178,943 (GRCm39) |
L671P |
probably damaging |
Het |
Omt2a |
T |
C |
9: 78,220,352 (GRCm39) |
I16V |
probably benign |
Het |
Or4c116 |
A |
T |
2: 88,942,576 (GRCm39) |
F93L |
probably damaging |
Het |
Or51f2 |
T |
A |
7: 102,526,640 (GRCm39) |
H104Q |
probably damaging |
Het |
Or6n1 |
A |
G |
1: 173,917,268 (GRCm39) |
I221V |
probably damaging |
Het |
Or8k24 |
G |
A |
2: 86,216,732 (GRCm39) |
T10I |
probably benign |
Het |
Or8s5 |
G |
T |
15: 98,238,659 (GRCm39) |
H70Q |
possibly damaging |
Het |
Osbpl9 |
A |
T |
4: 109,013,884 (GRCm39) |
I70N |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,764,221 (GRCm39) |
L4231F |
unknown |
Het |
Per1 |
C |
T |
11: 68,991,444 (GRCm39) |
|
probably benign |
Het |
Perm1 |
G |
T |
4: 156,301,531 (GRCm39) |
C25F |
probably damaging |
Het |
Phf3 |
A |
G |
1: 30,844,687 (GRCm39) |
V1424A |
probably damaging |
Het |
Plxnb1 |
T |
G |
9: 108,941,096 (GRCm39) |
L1625R |
probably damaging |
Het |
Ppid |
G |
A |
3: 79,506,359 (GRCm39) |
V216I |
probably benign |
Het |
Ppp4r3a |
C |
T |
12: 101,008,175 (GRCm39) |
G754D |
probably damaging |
Het |
Prex2 |
G |
T |
1: 11,270,212 (GRCm39) |
W1299L |
probably damaging |
Het |
Ptprn2 |
C |
A |
12: 116,835,714 (GRCm39) |
Q350K |
probably benign |
Het |
Ralyl |
G |
A |
3: 14,104,850 (GRCm39) |
|
probably null |
Het |
Rbm8a |
G |
A |
3: 96,537,368 (GRCm39) |
|
probably benign |
Het |
Relch |
T |
A |
1: 105,620,004 (GRCm39) |
M353K |
probably benign |
Het |
Ros1 |
A |
G |
10: 51,977,990 (GRCm39) |
S1419P |
possibly damaging |
Het |
Rps6ka5 |
C |
T |
12: 100,564,144 (GRCm39) |
|
probably null |
Het |
Rps6ka5 |
T |
A |
12: 100,547,578 (GRCm39) |
I311F |
probably damaging |
Het |
Rtel1 |
T |
C |
2: 180,965,539 (GRCm39) |
|
probably null |
Het |
Sacs |
A |
G |
14: 61,441,722 (GRCm39) |
E1256G |
probably damaging |
Het |
Sec23a |
A |
G |
12: 59,029,372 (GRCm39) |
V467A |
probably damaging |
Het |
Sec24d |
T |
A |
3: 123,149,427 (GRCm39) |
N811K |
possibly damaging |
Het |
Sf3b1 |
G |
A |
1: 55,029,666 (GRCm39) |
T1112M |
probably damaging |
Het |
Shisa5 |
T |
A |
9: 108,885,128 (GRCm39) |
C133S |
probably null |
Het |
Slc16a6 |
A |
G |
11: 109,354,193 (GRCm39) |
S59P |
probably benign |
Het |
Slc25a31 |
G |
A |
3: 40,670,975 (GRCm39) |
A89T |
probably damaging |
Het |
Slc6a1 |
G |
T |
6: 114,284,713 (GRCm39) |
R257L |
possibly damaging |
Het |
Sntb1 |
C |
T |
15: 55,612,670 (GRCm39) |
V303M |
probably benign |
Het |
Snx20 |
A |
G |
8: 89,354,439 (GRCm39) |
V97A |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,285,136 (GRCm39) |
N285K |
probably benign |
Het |
Vmn2r98 |
T |
G |
17: 19,290,007 (GRCm39) |
S514R |
probably damaging |
Het |
Zfp28 |
A |
T |
7: 6,392,793 (GRCm39) |
E156D |
probably damaging |
Het |
Zfp39 |
A |
G |
11: 58,793,633 (GRCm39) |
V35A |
probably benign |
Het |
Zfp536 |
A |
C |
7: 37,268,891 (GRCm39) |
I175S |
probably damaging |
Het |
Zic5 |
A |
T |
14: 122,696,969 (GRCm39) |
S549T |
unknown |
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 |
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'- ACTGGGTTCTGAATTCTATCCC -3'
(R):5'- TTTCAAGAGGCGTCTATGCG -3'
Sequencing Primer
(F):5'- GGGTTCTGAATTCTATCCCTCTGGAC -3'
(R):5'- CGATTTTTGGGTTTTACGACAAGAAG -3'
|
Posted On |
2015-10-21 |