Incidental Mutation 'R0148:Gria2'
ID |
22648 |
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 |
038432-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R0148 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
3 |
Chromosomal Location |
80588757-80710142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 80615038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Glycine
at position 481
(W481G)
|
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 damaging
Transcript: ENSMUST00000075316
AA Change: W481G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000074787 Gene: ENSMUSG00000033981 AA Change: W481G
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: W481G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103374 Gene: ENSMUSG00000033981 AA Change: W481G
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 damaging
Transcript: ENSMUST00000192463
AA Change: W481G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141447 Gene: ENSMUSG00000033981 AA Change: W481G
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
|
Meta Mutation Damage Score |
0.9655 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
86% (30/35) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,639,405 (GRCm39) |
|
probably null |
Het |
Agtr1a |
T |
C |
13: 30,565,927 (GRCm39) |
S331P |
probably benign |
Het |
Ank1 |
T |
A |
8: 23,613,993 (GRCm39) |
N1545K |
probably damaging |
Het |
Bahcc1 |
A |
T |
11: 120,159,230 (GRCm39) |
Q152H |
probably damaging |
Het |
Bend3 |
T |
A |
10: 43,387,946 (GRCm39) |
Y780N |
probably damaging |
Het |
Bod1l |
G |
T |
5: 41,976,040 (GRCm39) |
A1758E |
possibly damaging |
Het |
Ctcfl |
T |
C |
2: 172,960,340 (GRCm39) |
D81G |
possibly damaging |
Het |
Ddx39a |
C |
T |
8: 84,449,105 (GRCm39) |
R298C |
possibly damaging |
Het |
Dock8 |
T |
C |
19: 25,096,823 (GRCm39) |
L577P |
probably benign |
Het |
Drc1 |
A |
T |
5: 30,486,487 (GRCm39) |
N13I |
possibly damaging |
Het |
Efl1 |
T |
C |
7: 82,320,878 (GRCm39) |
S104P |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,729,081 (GRCm39) |
N85K |
probably damaging |
Het |
Epb41l4a |
T |
C |
18: 33,931,853 (GRCm39) |
T581A |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,433,307 (GRCm39) |
D446G |
possibly damaging |
Het |
Fam209 |
G |
T |
2: 172,315,900 (GRCm39) |
G92C |
probably damaging |
Het |
Fbln1 |
G |
A |
15: 85,115,027 (GRCm39) |
R193H |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,977,085 (GRCm39) |
|
probably null |
Het |
Fgf17 |
C |
T |
14: 70,876,313 (GRCm39) |
R49Q |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,939,077 (GRCm38) |
S2307P |
probably benign |
Het |
Galr1 |
A |
G |
18: 82,423,695 (GRCm39) |
L194P |
probably benign |
Het |
Gar1 |
T |
C |
3: 129,623,122 (GRCm39) |
H89R |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,267,362 (GRCm39) |
Y519F |
probably benign |
Het |
Git1 |
A |
G |
11: 77,396,554 (GRCm39) |
T601A |
probably benign |
Het |
Gm10722 |
T |
"C,A" |
9: 3,001,405 (GRCm39) |
|
probably null |
Het |
Gm5142 |
C |
T |
14: 59,416,119 (GRCm39) |
R13H |
possibly damaging |
Het |
Homer2 |
T |
C |
7: 81,274,026 (GRCm39) |
T57A |
probably benign |
Het |
Hpse2 |
A |
C |
19: 42,920,099 (GRCm39) |
|
probably null |
Het |
Hspb7 |
T |
C |
4: 141,151,302 (GRCm39) |
I148T |
probably damaging |
Het |
Htr1d |
C |
A |
4: 136,170,788 (GRCm39) |
T339K |
probably damaging |
Het |
Il4ra |
T |
A |
7: 125,174,709 (GRCm39) |
C306S |
probably damaging |
Het |
Kansl3 |
A |
T |
1: 36,392,897 (GRCm39) |
C225S |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,581,329 (GRCm39) |
C596Y |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,832,199 (GRCm39) |
H1714R |
probably benign |
Het |
Marchf6 |
C |
T |
15: 31,490,758 (GRCm39) |
V293M |
probably damaging |
Het |
Med12l |
A |
G |
3: 58,945,075 (GRCm39) |
D100G |
probably damaging |
Het |
Mettl14 |
G |
A |
3: 123,165,043 (GRCm39) |
T316I |
probably damaging |
Het |
Mmp15 |
A |
T |
8: 96,098,945 (GRCm39) |
N591Y |
probably benign |
Het |
Mrpl53 |
T |
C |
6: 83,086,518 (GRCm39) |
L74P |
probably damaging |
Het |
Mvp |
C |
T |
7: 126,589,037 (GRCm39) |
V577M |
probably damaging |
Het |
Neb |
T |
C |
2: 52,139,388 (GRCm39) |
K140E |
probably damaging |
Het |
Nfya |
A |
G |
17: 48,706,026 (GRCm39) |
V48A |
possibly damaging |
Het |
Ngf |
G |
T |
3: 102,417,119 (GRCm39) |
|
probably benign |
Het |
Nipsnap3b |
C |
T |
4: 53,017,088 (GRCm39) |
A104V |
possibly damaging |
Het |
Nlrp14 |
A |
G |
7: 106,781,928 (GRCm39) |
Y375C |
probably benign |
Het |
Nod1 |
A |
G |
6: 54,915,202 (GRCm39) |
Y764H |
probably damaging |
Het |
Or13d1 |
A |
T |
4: 52,971,232 (GRCm39) |
I204F |
probably benign |
Het |
Or2w25 |
G |
A |
11: 59,504,320 (GRCm39) |
V177M |
probably damaging |
Het |
Or7e177 |
T |
G |
9: 20,212,387 (GRCm39) |
M297R |
probably damaging |
Het |
Pcdhb19 |
A |
T |
18: 37,630,235 (GRCm39) |
Q10L |
probably benign |
Het |
Pdcl |
T |
C |
2: 37,242,142 (GRCm39) |
I203V |
probably benign |
Het |
Peg10 |
C |
A |
6: 4,755,711 (GRCm39) |
R96S |
possibly damaging |
Het |
Pknox1 |
T |
A |
17: 31,823,764 (GRCm39) |
N379K |
probably benign |
Het |
Prodh |
T |
G |
16: 17,895,677 (GRCm39) |
Q360P |
probably damaging |
Het |
Raf1 |
C |
T |
6: 115,609,934 (GRCm39) |
G202S |
probably benign |
Het |
Rgs11 |
T |
A |
17: 26,426,433 (GRCm39) |
|
probably null |
Het |
Rilp |
A |
T |
11: 75,401,059 (GRCm39) |
H29L |
probably damaging |
Het |
Rtel1 |
T |
C |
2: 180,962,839 (GRCm39) |
C31R |
probably damaging |
Het |
Rubcnl |
T |
A |
14: 75,279,898 (GRCm39) |
I427K |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,751,460 (GRCm39) |
R3706L |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,729,434 (GRCm39) |
D2396G |
probably damaging |
Het |
Slc45a2 |
T |
C |
15: 11,025,954 (GRCm39) |
S435P |
probably damaging |
Het |
Spata17 |
A |
G |
1: 186,844,798 (GRCm39) |
V111A |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,116,608 (GRCm39) |
D881N |
possibly damaging |
Het |
Sypl2 |
T |
A |
3: 108,126,411 (GRCm39) |
N67I |
possibly damaging |
Het |
Tenm3 |
T |
C |
8: 48,689,755 (GRCm39) |
Y1944C |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,062,246 (GRCm39) |
D2535E |
possibly damaging |
Het |
Tkt |
T |
A |
14: 30,294,177 (GRCm39) |
I529N |
probably damaging |
Het |
Trp53i11 |
T |
G |
2: 93,028,080 (GRCm39) |
V39G |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,761,659 (GRCm39) |
G997D |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,447,449 (GRCm39) |
V219A |
possibly damaging |
Het |
Usp4 |
T |
A |
9: 108,268,870 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
G |
5: 102,065,277 (GRCm39) |
V1297A |
probably benign |
Het |
Wdr46 |
T |
A |
17: 34,159,997 (GRCm39) |
F70I |
probably benign |
Het |
Xkr6 |
T |
C |
14: 64,056,998 (GRCm39) |
V303A |
unknown |
Het |
Zdbf2 |
C |
T |
1: 63,343,165 (GRCm39) |
Q515* |
probably null |
Het |
Zfhx2 |
A |
G |
14: 55,310,354 (GRCm39) |
Y731H |
possibly 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 |
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 |
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'- TCCCTTGAAGTCTGGGGATACTGTG -3'
(R):5'- TGAGGAGTCATGCTAACAGCTTTTGG -3'
Sequencing Primer
(F):5'- GACAAGTGAAATGCATGTTTCTG -3'
(R):5'- GCTAACAGCTTTTGGGTATCTTAC -3'
|
Posted On |
2013-04-16 |