Incidental Mutation 'R7225:Gria2'
| ID |
562081 |
| 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 |
045297-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R7225 (G1)
|
| Quality Score |
203.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
80588757-80710142 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 80709938 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (62/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
T |
C |
12: 110,637,299 (GRCm39) |
|
probably benign |
Het |
| 5730480H06Rik |
T |
A |
5: 48,537,575 (GRCm39) |
|
probably null |
Het |
| Actn4 |
A |
T |
7: 28,598,124 (GRCm39) |
V492D |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,438,270 (GRCm39) |
E1041G |
probably benign |
Het |
| Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
| Cd22 |
C |
T |
7: 30,577,059 (GRCm39) |
A83T |
not run |
Het |
| Cdan1 |
T |
C |
2: 120,555,393 (GRCm39) |
T783A |
probably benign |
Het |
| Cdh9 |
C |
T |
15: 16,856,159 (GRCm39) |
S733F |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,740,236 (GRCm39) |
F2282S |
unknown |
Het |
| Chst9 |
T |
C |
18: 15,585,718 (GRCm39) |
K282E |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,270,396 (GRCm39) |
D232N |
probably damaging |
Het |
| Clpb |
T |
A |
7: 101,360,672 (GRCm39) |
L234Q |
probably damaging |
Het |
| Cluh |
T |
G |
11: 74,557,232 (GRCm39) |
|
probably null |
Het |
| Cnp |
C |
T |
11: 100,471,413 (GRCm39) |
Q352* |
probably null |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
| Dtx3 |
C |
T |
10: 127,027,358 (GRCm39) |
C272Y |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,756 (GRCm39) |
I1156T |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,055,917 (GRCm39) |
V1697E |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,390,058 (GRCm39) |
D211G |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,454,988 (GRCm39) |
K36R |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,325 (GRCm39) |
I2659T |
possibly damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,460,033 (GRCm39) |
W1893R |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,514,391 (GRCm39) |
L256Q |
probably damaging |
Het |
| Gpc5 |
T |
G |
14: 115,789,710 (GRCm39) |
V528G |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,420,604 (GRCm39) |
E150G |
possibly damaging |
Het |
| Jak3 |
C |
A |
8: 72,138,155 (GRCm39) |
Q869K |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,061,844 (GRCm39) |
V1218A |
probably benign |
Het |
| Kcnf1 |
A |
G |
12: 17,225,694 (GRCm39) |
C176R |
possibly damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,604,111 (GRCm39) |
V88A |
probably benign |
Het |
| Lmod3 |
T |
A |
6: 97,224,345 (GRCm39) |
D492V |
probably benign |
Het |
| Lurap1l |
A |
C |
4: 80,829,718 (GRCm39) |
S43R |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,455,558 (GRCm39) |
H890R |
possibly damaging |
Het |
| Mertk |
T |
G |
2: 128,643,482 (GRCm39) |
N960K |
possibly damaging |
Het |
| Nudt9 |
C |
A |
5: 104,212,966 (GRCm39) |
D346E |
probably benign |
Het |
| Obi1 |
T |
C |
14: 104,717,294 (GRCm39) |
T360A |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,432,857 (GRCm39) |
|
probably null |
Het |
| Or5an1 |
A |
T |
19: 12,260,831 (GRCm39) |
T140S |
probably benign |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Paxbp1 |
T |
C |
16: 90,823,956 (GRCm39) |
E564G |
probably damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,577,490 (GRCm39) |
R623C |
possibly damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,410,337 (GRCm39) |
V2615F |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,593,541 (GRCm39) |
T58A |
possibly damaging |
Het |
| Por |
A |
G |
5: 135,761,441 (GRCm39) |
D309G |
probably benign |
Het |
| Ppp2r5e |
T |
C |
12: 75,515,353 (GRCm39) |
K261R |
probably damaging |
Het |
| Ptpn18 |
C |
T |
1: 34,511,927 (GRCm39) |
T366I |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,000,928 (GRCm39) |
G1006E |
possibly damaging |
Het |
| Rpl12 |
C |
T |
2: 32,851,909 (GRCm39) |
|
probably benign |
Het |
| Rpsa |
T |
G |
9: 119,960,222 (GRCm39) |
F262V |
probably benign |
Het |
| Sh3pxd2a |
G |
T |
19: 47,255,828 (GRCm39) |
N991K |
probably damaging |
Het |
| Shank2 |
T |
A |
7: 143,838,762 (GRCm39) |
N19K |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,073,274 (GRCm39) |
T61A |
probably benign |
Het |
| Sipa1l3 |
A |
C |
7: 29,098,853 (GRCm39) |
V472G |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,458,315 (GRCm39) |
S313P |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,912,081 (GRCm39) |
|
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,314,862 (GRCm39) |
V266E |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,988,184 (GRCm39) |
C833R |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,961,520 (GRCm39) |
T812A |
unknown |
Het |
| Tnfsf4 |
A |
G |
1: 161,244,821 (GRCm39) |
D170G |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,082 (GRCm39) |
N357S |
probably damaging |
Het |
| Txk |
C |
T |
5: 72,858,057 (GRCm39) |
D418N |
probably damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,033,773 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
G |
A |
10: 130,222,552 (GRCm39) |
P556L |
probably damaging |
Het |
| Zfp1007 |
T |
C |
5: 109,825,015 (GRCm39) |
H145R |
possibly damaging |
Het |
| Zfp442 |
T |
C |
2: 150,250,925 (GRCm39) |
N326D |
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 |
|
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 |
|
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'- CCTCAGCAAATTAGATCCTCTGC -3'
(R):5'- AGGTCTCTAAGAGGCACCAG -3'
Sequencing Primer
(F):5'- CTGCATTTTGAGGTCGAAATTTAGC -3'
(R):5'- AGAAGCTGCCAGGGCTGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation