Incidental Mutation 'R4996:Gria2'
ID |
385234 |
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 |
042590-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R4996 (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 G
at 80614448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 531
(S531P)
|
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: S531P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000074787 Gene: ENSMUSG00000033981 AA Change: S531P
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: S531P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103374 Gene: ENSMUSG00000033981 AA Change: S531P
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: S531P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141447 Gene: ENSMUSG00000033981 AA Change: S531P
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: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.5%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Actl11 |
A |
G |
9: 107,808,934 (GRCm39) |
I1086V |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,726,853 (GRCm39) |
S500G |
probably benign |
Het |
Ahcyl1 |
A |
T |
3: 107,575,603 (GRCm39) |
V394E |
probably damaging |
Het |
Alg9 |
T |
C |
9: 50,720,005 (GRCm39) |
F494L |
probably damaging |
Het |
Ankrd55 |
C |
A |
13: 112,492,622 (GRCm39) |
D264E |
possibly damaging |
Het |
Asb14 |
A |
G |
14: 26,634,073 (GRCm39) |
N426S |
possibly damaging |
Het |
Atm |
A |
T |
9: 53,435,807 (GRCm39) |
F168I |
probably benign |
Het |
Atp13a4 |
A |
T |
16: 29,290,822 (GRCm39) |
I209N |
probably damaging |
Het |
BB014433 |
A |
T |
8: 15,092,166 (GRCm39) |
L229Q |
probably benign |
Het |
Calml3 |
T |
C |
13: 3,854,142 (GRCm39) |
D21G |
probably damaging |
Het |
Capn10 |
A |
G |
1: 92,872,858 (GRCm39) |
N528S |
probably damaging |
Het |
Ccnl2 |
T |
A |
4: 155,897,981 (GRCm39) |
D141E |
possibly damaging |
Het |
Cd163 |
A |
G |
6: 124,296,106 (GRCm39) |
I817V |
probably benign |
Het |
Cgnl1 |
CTTGCCCAGGTT |
CTT |
9: 71,632,108 (GRCm39) |
|
probably benign |
Het |
Cln6 |
T |
A |
9: 62,757,937 (GRCm39) |
I232N |
probably damaging |
Het |
Col22a1 |
A |
C |
15: 71,879,010 (GRCm39) |
V49G |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 15,960,452 (GRCm39) |
M3321K |
probably damaging |
Het |
Cyp2u1 |
T |
A |
3: 131,091,933 (GRCm39) |
M196L |
probably benign |
Het |
Dlec1 |
T |
G |
9: 118,975,118 (GRCm39) |
L1566R |
probably damaging |
Het |
Dnajc3 |
A |
G |
14: 119,209,839 (GRCm39) |
T305A |
probably benign |
Het |
Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
Efhd1 |
G |
T |
1: 87,192,280 (GRCm39) |
G37W |
possibly damaging |
Het |
Exph5 |
G |
C |
9: 53,286,910 (GRCm39) |
E1330D |
possibly damaging |
Het |
Fbln2 |
A |
T |
6: 91,242,992 (GRCm39) |
Y913F |
probably benign |
Het |
Fmnl1 |
G |
A |
11: 103,073,482 (GRCm39) |
S167N |
possibly damaging |
Het |
Frs3 |
A |
G |
17: 48,012,635 (GRCm39) |
E114G |
probably damaging |
Het |
Gmpr2 |
T |
C |
14: 55,914,252 (GRCm39) |
I169T |
probably damaging |
Het |
Hace1 |
G |
A |
10: 45,526,046 (GRCm39) |
A296T |
probably benign |
Het |
Ift70a1 |
C |
T |
2: 75,810,266 (GRCm39) |
G606S |
probably benign |
Het |
Inhbb |
A |
C |
1: 119,348,548 (GRCm39) |
L90R |
probably damaging |
Het |
Insr |
C |
T |
8: 3,242,665 (GRCm39) |
R18Q |
probably null |
Het |
Kdm6b |
G |
T |
11: 69,296,557 (GRCm39) |
P570Q |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,651,800 (GRCm39) |
V1803A |
probably benign |
Het |
Lpin3 |
T |
A |
2: 160,747,207 (GRCm39) |
L811Q |
probably damaging |
Het |
Lrrc8e |
C |
T |
8: 4,285,166 (GRCm39) |
L464F |
probably damaging |
Het |
Micall2 |
A |
G |
5: 139,696,344 (GRCm39) |
S729P |
probably benign |
Het |
Naca |
C |
T |
10: 127,878,298 (GRCm39) |
|
probably benign |
Het |
Nav1 |
A |
T |
1: 135,393,709 (GRCm39) |
S1010T |
probably damaging |
Het |
Nefm |
T |
C |
14: 68,358,570 (GRCm39) |
|
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,085,172 (GRCm39) |
F136I |
possibly damaging |
Het |
Nup210 |
A |
T |
6: 91,030,418 (GRCm39) |
F137Y |
probably benign |
Het |
Or1o3 |
A |
G |
17: 37,573,758 (GRCm39) |
S266P |
probably benign |
Het |
Or3a1c |
A |
G |
11: 74,046,157 (GRCm39) |
H59R |
probably damaging |
Het |
Or8k32 |
T |
C |
2: 86,368,615 (GRCm39) |
I215V |
probably benign |
Het |
Otog |
C |
A |
7: 45,948,030 (GRCm39) |
H2344N |
possibly damaging |
Het |
Otog |
C |
A |
7: 45,954,934 (GRCm39) |
C517* |
probably null |
Het |
Pcdhac1 |
C |
T |
18: 37,225,580 (GRCm39) |
Q798* |
probably null |
Het |
Pdhx |
T |
C |
2: 102,860,657 (GRCm39) |
D330G |
probably damaging |
Het |
Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
Pgr |
C |
A |
9: 8,900,914 (GRCm39) |
P149Q |
probably damaging |
Het |
Plaat1 |
G |
A |
16: 29,036,456 (GRCm39) |
W31* |
probably null |
Het |
Ppm1h |
A |
T |
10: 122,777,245 (GRCm39) |
I504F |
probably damaging |
Het |
Ppp6r3 |
A |
G |
19: 3,523,833 (GRCm39) |
S556P |
probably damaging |
Het |
Ranbp9 |
G |
A |
13: 43,578,570 (GRCm39) |
Q168* |
probably null |
Het |
Relb |
A |
T |
7: 19,349,528 (GRCm39) |
L259Q |
probably benign |
Het |
Rfx5 |
G |
A |
3: 94,863,126 (GRCm39) |
V73I |
probably benign |
Het |
Rgcc |
T |
C |
14: 79,527,716 (GRCm39) |
D125G |
possibly damaging |
Het |
Rmnd5b |
A |
G |
11: 51,518,735 (GRCm39) |
V86A |
probably damaging |
Het |
Slc15a5 |
G |
A |
6: 138,020,583 (GRCm39) |
T250M |
probably damaging |
Het |
Slc7a2 |
A |
T |
8: 41,365,599 (GRCm39) |
K477* |
probably null |
Het |
Slx9 |
A |
T |
10: 77,351,367 (GRCm39) |
W14R |
probably null |
Het |
Smc2 |
T |
A |
4: 52,461,042 (GRCm39) |
|
probably null |
Het |
Sox5 |
A |
T |
6: 143,974,070 (GRCm39) |
L226* |
probably null |
Het |
Sp140l2 |
G |
T |
1: 85,224,815 (GRCm39) |
A240E |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,990,724 (GRCm39) |
E1903G |
possibly damaging |
Het |
Tenm3 |
A |
T |
8: 48,688,861 (GRCm39) |
I2226N |
probably damaging |
Het |
Tmtc3 |
A |
T |
10: 100,283,086 (GRCm39) |
I823N |
probably damaging |
Het |
Top6bl |
T |
A |
19: 4,676,112 (GRCm39) |
K673N |
probably benign |
Het |
Tor3a |
T |
C |
1: 156,483,342 (GRCm39) |
Y360C |
probably damaging |
Het |
Trpc3 |
T |
C |
3: 36,716,967 (GRCm39) |
E357G |
probably benign |
Het |
Tubgcp6 |
A |
T |
15: 88,987,693 (GRCm39) |
N1093K |
possibly damaging |
Het |
Vmn1r64 |
T |
A |
7: 5,887,052 (GRCm39) |
T164S |
probably benign |
Het |
Vmn2r40 |
T |
A |
7: 8,911,166 (GRCm39) |
Q709L |
probably damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,129,247 (GRCm39) |
I713L |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,205,484 (GRCm39) |
T686A |
probably benign |
Het |
Wipf1 |
GCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCC |
2: 73,270,418 (GRCm39) |
|
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 |
|
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'- CTGCATAAAGGCACCCAAGG -3'
(R):5'- CTAGCCACAATTCTAGGTCCTG -3'
Sequencing Primer
(F):5'- TGCATAAAGGCACCCAAGGAAAAC -3'
(R):5'- ACAATTCTAGGTCCTGTTATTTTCC -3'
|
Posted On |
2016-05-10 |