Incidental Mutation 'R5026:Gria1'
| ID |
391370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gria1
|
| Ensembl Gene |
ENSMUSG00000020524 |
| Gene Name |
glutamate receptor, ionotropic, AMPA1 (alpha 1) |
| Synonyms |
Glur-1, Glr-1, Glur1, GluR1, 2900051M01Rik, Glr1, HIPA1, GluR-A, GluA1, GluRA |
| MMRRC Submission |
042617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5026 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57201522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 787
(C787S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
| AlphaFold |
P23818 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036315
AA Change: C787S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: C787S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
37 |
372 |
9.3e-63 |
PFAM |
|
PBPe
|
408 |
783 |
3.65e-121 |
SMART |
|
Lig_chan-Glu_bd
|
418 |
483 |
1.65e-29 |
SMART |
|
low complexity region
|
863 |
874 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094179
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
37 |
372 |
3.7e-69 |
PFAM |
|
PBPe
|
408 |
783 |
2.09e-121 |
SMART |
|
Lig_chan-Glu_bd
|
418 |
483 |
1.65e-29 |
SMART |
|
low complexity region
|
863 |
874 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151045
AA Change: C718S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: C718S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
303 |
4.7e-58 |
PFAM |
|
PBPe
|
339 |
714 |
3.65e-121 |
SMART |
|
Lig_chan-Glu_bd
|
349 |
414 |
1.65e-29 |
SMART |
|
transmembrane domain
|
739 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
794 |
805 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6350 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.7%
|
| Validation Efficiency |
96% (88/92) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice with mutations in phosphorylation sites have LTD and LTP deficits and spatial learning memory defects. Null homozygotes also show stimulus-reward learning deficits and increases locomotor activity and context-dependent sensitization to amphetamine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,356,383 (GRCm39) |
N608S |
probably benign |
Het |
| Actg1 |
T |
C |
11: 120,237,784 (GRCm39) |
N7S |
probably damaging |
Het |
| Adamtsl3 |
T |
A |
7: 82,225,262 (GRCm39) |
L357Q |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,987,995 (GRCm39) |
Q3093L |
possibly damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,794,692 (GRCm39) |
V359E |
probably benign |
Het |
| Ankrd40 |
T |
C |
11: 94,230,550 (GRCm39) |
|
probably benign |
Het |
| Ano10 |
G |
A |
9: 122,101,625 (GRCm39) |
Q49* |
probably null |
Het |
| Aoah |
A |
T |
13: 21,099,129 (GRCm39) |
D236V |
probably damaging |
Het |
| Bin1 |
T |
C |
18: 32,552,983 (GRCm39) |
|
probably null |
Het |
| Braf |
T |
C |
6: 39,665,221 (GRCm39) |
D49G |
probably benign |
Het |
| Brsk1 |
A |
T |
7: 4,707,265 (GRCm39) |
R273W |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,109,049 (GRCm39) |
M2259K |
possibly damaging |
Het |
| Cabp1 |
T |
C |
5: 115,313,531 (GRCm39) |
N43D |
possibly damaging |
Het |
| Ccar2 |
T |
A |
14: 70,379,951 (GRCm39) |
Q412L |
possibly damaging |
Het |
| Cd4 |
T |
C |
6: 124,843,583 (GRCm39) |
T443A |
possibly damaging |
Het |
| Cdh23 |
T |
A |
10: 60,140,627 (GRCm39) |
I3206F |
possibly damaging |
Het |
| Ceacam9 |
A |
T |
7: 16,459,122 (GRCm39) |
|
probably null |
Het |
| Chid1 |
T |
C |
7: 141,093,749 (GRCm39) |
D289G |
probably damaging |
Het |
| Chmp6 |
T |
A |
11: 119,809,469 (GRCm39) |
L196Q |
probably damaging |
Het |
| Cog8 |
A |
G |
8: 107,775,757 (GRCm39) |
S536P |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,960 (GRCm39) |
S1141R |
probably damaging |
Het |
| Dnah7a |
T |
G |
1: 53,701,657 (GRCm39) |
Y166S |
probably damaging |
Het |
| Dnah7b |
G |
T |
1: 46,226,523 (GRCm39) |
W1318L |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,387,098 (GRCm39) |
F212S |
probably damaging |
Het |
| Entpd6 |
A |
T |
2: 150,605,564 (GRCm39) |
S265C |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,360,206 (GRCm39) |
T523A |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,262,819 (GRCm39) |
S939P |
unknown |
Het |
| Gjb3 |
A |
T |
4: 127,220,280 (GRCm39) |
V84D |
probably damaging |
Het |
| Gm572 |
A |
T |
4: 148,739,301 (GRCm39) |
E43V |
possibly damaging |
Het |
| Gm6185 |
T |
A |
1: 161,052,178 (GRCm39) |
|
noncoding transcript |
Het |
| Grpel2 |
A |
G |
18: 61,849,024 (GRCm39) |
L162P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,393,408 (GRCm39) |
T4096A |
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,600,785 (GRCm39) |
M41K |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,293 (GRCm39) |
Y388C |
probably damaging |
Het |
| Ighv3-4 |
A |
G |
12: 114,217,382 (GRCm39) |
Y70H |
probably benign |
Het |
| Itm2c |
T |
C |
1: 85,834,213 (GRCm39) |
L176P |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,836 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,333,287 (GRCm39) |
T2376I |
possibly damaging |
Het |
| Map1a |
T |
G |
2: 121,138,019 (GRCm39) |
S2660A |
possibly damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,121,158 (GRCm39) |
H676R |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,276,338 (GRCm39) |
K693M |
probably damaging |
Het |
| Ndufa13 |
T |
A |
8: 70,347,920 (GRCm39) |
R49* |
probably null |
Het |
| Neb |
T |
A |
2: 52,094,892 (GRCm39) |
T1115S |
possibly damaging |
Het |
| Nvl |
C |
T |
1: 180,932,720 (GRCm39) |
R699H |
probably damaging |
Het |
| Or10w1 |
A |
G |
19: 13,632,296 (GRCm39) |
I163V |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,364 (GRCm39) |
I215N |
probably damaging |
Het |
| Or8b53 |
A |
G |
9: 38,667,041 (GRCm39) |
D19G |
probably benign |
Het |
| Or8d2b |
A |
T |
9: 38,789,195 (GRCm39) |
H241L |
possibly damaging |
Het |
| Piezo1 |
G |
T |
8: 123,213,557 (GRCm39) |
D1779E |
probably benign |
Het |
| Prl8a9 |
A |
G |
13: 27,745,560 (GRCm39) |
S77P |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,176,506 (GRCm39) |
I2904F |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,970,214 (GRCm39) |
S151T |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,590 (GRCm39) |
D1859G |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 37,256,426 (GRCm39) |
F173L |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,376,931 (GRCm39) |
N371K |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,375,284 (GRCm39) |
D659V |
possibly damaging |
Het |
| Sez6 |
T |
A |
11: 77,859,815 (GRCm39) |
F378Y |
probably damaging |
Het |
| Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,414,147 (GRCm39) |
N917I |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,792,768 (GRCm39) |
|
probably benign |
Het |
| Tes |
T |
C |
6: 17,096,339 (GRCm39) |
V24A |
probably benign |
Het |
| Tial1 |
C |
T |
7: 128,050,120 (GRCm39) |
E82K |
probably damaging |
Het |
| Tmem94 |
G |
A |
11: 115,683,930 (GRCm39) |
C750Y |
probably damaging |
Het |
| Tmppe |
T |
A |
9: 114,234,887 (GRCm39) |
N395K |
possibly damaging |
Het |
| Tnn |
T |
C |
1: 159,973,707 (GRCm39) |
H220R |
probably benign |
Het |
| Trappc10 |
T |
C |
10: 78,040,122 (GRCm39) |
T610A |
possibly damaging |
Het |
| Trmt1l |
T |
A |
1: 151,316,627 (GRCm39) |
M196K |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,715 (GRCm39) |
*872W |
probably null |
Het |
| Ttn |
T |
C |
2: 76,579,353 (GRCm39) |
T23847A |
probably benign |
Het |
| Ube4b |
T |
A |
4: 149,445,022 (GRCm39) |
L440F |
probably damaging |
Het |
| Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,838,185 (GRCm39) |
T889S |
possibly damaging |
Het |
| Vmn1r215 |
C |
T |
13: 23,260,449 (GRCm39) |
T163I |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,508,722 (GRCm39) |
Y483* |
probably null |
Het |
| Wdr47 |
T |
A |
3: 108,525,838 (GRCm39) |
C120* |
probably null |
Het |
| Zc3h6 |
G |
A |
2: 128,859,229 (GRCm39) |
V1087I |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,507,302 (GRCm39) |
H889R |
probably damaging |
Het |
| Zfp825 |
G |
T |
13: 74,629,196 (GRCm39) |
H107N |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,069,859 (GRCm39) |
H680R |
probably damaging |
Het |
|
| Other mutations in Gria1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00475:Gria1
|
APN |
11 |
57,133,767 (GRCm39) |
nonsense |
probably null |
|
|
IGL00807:Gria1
|
APN |
11 |
56,902,866 (GRCm39) |
missense |
probably benign |
|
|
IGL00816:Gria1
|
APN |
11 |
57,208,568 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01110:Gria1
|
APN |
11 |
57,180,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01116:Gria1
|
APN |
11 |
57,127,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01120:Gria1
|
APN |
11 |
57,208,495 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01843:Gria1
|
APN |
11 |
57,208,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02135:Gria1
|
APN |
11 |
57,076,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02308:Gria1
|
APN |
11 |
57,127,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02554:Gria1
|
APN |
11 |
57,180,314 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02813:Gria1
|
APN |
11 |
57,174,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03071:Gria1
|
APN |
11 |
56,902,936 (GRCm39) |
splice site |
probably null |
|
|
IGL03326:Gria1
|
APN |
11 |
57,208,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Gria1
|
UTSW |
11 |
57,076,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Gria1
|
UTSW |
11 |
57,208,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Gria1
|
UTSW |
11 |
57,200,710 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0399:Gria1
|
UTSW |
11 |
57,076,853 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0502:Gria1
|
UTSW |
11 |
57,080,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Gria1
|
UTSW |
11 |
57,080,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0549:Gria1
|
UTSW |
11 |
57,119,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Gria1
|
UTSW |
11 |
57,180,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1377:Gria1
|
UTSW |
11 |
57,092,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Gria1
|
UTSW |
11 |
57,174,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Gria1
|
UTSW |
11 |
57,080,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1581:Gria1
|
UTSW |
11 |
57,127,836 (GRCm39) |
splice site |
probably null |
|
|
R2002:Gria1
|
UTSW |
11 |
56,902,930 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2064:Gria1
|
UTSW |
11 |
57,208,534 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2255:Gria1
|
UTSW |
11 |
57,076,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Gria1
|
UTSW |
11 |
57,180,146 (GRCm39) |
missense |
probably null |
0.30 |
|
R2965:Gria1
|
UTSW |
11 |
57,076,627 (GRCm39) |
nonsense |
probably null |
|
|
R3012:Gria1
|
UTSW |
11 |
57,180,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Gria1
|
UTSW |
11 |
57,174,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3807:Gria1
|
UTSW |
11 |
57,201,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5132:Gria1
|
UTSW |
11 |
57,180,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5222:Gria1
|
UTSW |
11 |
57,080,623 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5303:Gria1
|
UTSW |
11 |
57,133,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5332:Gria1
|
UTSW |
11 |
57,218,447 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5413:Gria1
|
UTSW |
11 |
57,108,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5748:Gria1
|
UTSW |
11 |
57,200,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5878:Gria1
|
UTSW |
11 |
57,208,628 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5937:Gria1
|
UTSW |
11 |
57,080,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5995:Gria1
|
UTSW |
11 |
57,180,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Gria1
|
UTSW |
11 |
57,108,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Gria1
|
UTSW |
11 |
57,108,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Gria1
|
UTSW |
11 |
57,133,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Gria1
|
UTSW |
11 |
57,128,936 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6262:Gria1
|
UTSW |
11 |
57,133,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6828:Gria1
|
UTSW |
11 |
57,180,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Gria1
|
UTSW |
11 |
57,080,634 (GRCm39) |
missense |
probably benign |
|
|
R7507:Gria1
|
UTSW |
11 |
57,119,765 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7511:Gria1
|
UTSW |
11 |
57,174,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7691:Gria1
|
UTSW |
11 |
57,127,813 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7898:Gria1
|
UTSW |
11 |
57,133,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7931:Gria1
|
UTSW |
11 |
57,201,351 (GRCm39) |
intron |
probably benign |
|
|
R7956:Gria1
|
UTSW |
11 |
57,080,626 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8189:Gria1
|
UTSW |
11 |
57,108,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8353:Gria1
|
UTSW |
11 |
57,133,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Gria1
|
UTSW |
11 |
57,133,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8472:Gria1
|
UTSW |
11 |
57,218,410 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8478:Gria1
|
UTSW |
11 |
57,200,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:Gria1
|
UTSW |
11 |
57,076,759 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9243:Gria1
|
UTSW |
11 |
57,128,888 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9450:Gria1
|
UTSW |
11 |
57,200,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTGTCAAGTGCATATGCTC -3'
(R):5'- ATGCAAGATTTCACCCCTCC -3'
Sequencing Primer
(F):5'- AGTGCATATGCTCTTGTTCAATG -3'
(R):5'- CCTCCCTGGGCTGTTGTAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation