Incidental Mutation 'R6031:Gria1'
ID |
480415 |
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 |
044203-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6031 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57108608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 237
(D237G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
AlphaFold |
P23818 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036315
AA Change: D237G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044494 Gene: ENSMUSG00000020524 AA Change: D237G
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 damaging
Transcript: ENSMUST00000094179
AA Change: D237G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091731 Gene: ENSMUSG00000020524 AA Change: D237G
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: D168G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117746 Gene: ENSMUSG00000020524 AA Change: D168G
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.7%
- 20x: 88.0%
|
Validation Efficiency |
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,214,084 (GRCm39) |
Y304H |
possibly damaging |
Het |
Add2 |
A |
G |
6: 86,075,655 (GRCm39) |
E268G |
probably damaging |
Het |
Akr1b1 |
A |
C |
6: 34,289,609 (GRCm39) |
V67G |
probably benign |
Het |
Alms1 |
A |
T |
6: 85,599,937 (GRCm39) |
N1588Y |
probably damaging |
Het |
Arhgap23 |
A |
T |
11: 97,366,965 (GRCm39) |
D1082V |
probably damaging |
Het |
Asb6 |
A |
G |
2: 30,714,207 (GRCm39) |
V301A |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
Atg7 |
T |
A |
6: 114,648,194 (GRCm39) |
C31S |
probably benign |
Het |
Camsap2 |
A |
T |
1: 136,208,176 (GRCm39) |
N1105K |
possibly damaging |
Het |
Ccdc125 |
C |
T |
13: 100,820,877 (GRCm39) |
|
probably null |
Het |
Ccdc63 |
T |
C |
5: 122,267,799 (GRCm39) |
I56V |
possibly damaging |
Het |
Cpd |
T |
C |
11: 76,681,714 (GRCm39) |
E1143G |
probably benign |
Het |
Cpt1a |
T |
A |
19: 3,421,556 (GRCm39) |
|
probably null |
Het |
Creb3l2 |
A |
T |
6: 37,311,369 (GRCm39) |
D473E |
probably benign |
Het |
Crocc |
A |
T |
4: 140,761,668 (GRCm39) |
|
probably null |
Het |
Ctsd |
A |
T |
7: 141,930,451 (GRCm39) |
C364S |
probably damaging |
Het |
Disp2 |
G |
T |
2: 118,620,275 (GRCm39) |
V336L |
probably benign |
Het |
Efr3b |
A |
G |
12: 4,017,106 (GRCm39) |
I782T |
possibly damaging |
Het |
Fam98a |
A |
G |
17: 75,846,427 (GRCm39) |
V230A |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,899,788 (GRCm39) |
T3082S |
probably benign |
Het |
Frmd3 |
T |
C |
4: 74,105,688 (GRCm39) |
Y445H |
probably damaging |
Het |
Galt |
G |
A |
4: 41,757,202 (GRCm39) |
R185Q |
probably benign |
Het |
Gatb |
T |
C |
3: 85,520,818 (GRCm39) |
I309T |
possibly damaging |
Het |
Gfi1b |
G |
A |
2: 28,503,820 (GRCm39) |
Q127* |
probably null |
Het |
Gfpt1 |
C |
A |
6: 87,063,302 (GRCm39) |
T563N |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,666,465 (GRCm39) |
V305D |
probably benign |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,859,307 (GRCm39) |
V9A |
probably damaging |
Het |
Ipo4 |
G |
A |
14: 55,869,596 (GRCm39) |
P355S |
probably damaging |
Het |
Jade2 |
G |
T |
11: 51,717,413 (GRCm39) |
C314* |
probably null |
Het |
Kri1 |
T |
C |
9: 21,186,565 (GRCm39) |
E597G |
probably benign |
Het |
Mcub |
A |
G |
3: 129,720,038 (GRCm39) |
Y152H |
probably damaging |
Het |
Med23 |
C |
T |
10: 24,779,646 (GRCm39) |
R542* |
probably null |
Het |
Ndc80 |
T |
C |
17: 71,818,483 (GRCm39) |
N291S |
probably benign |
Het |
Nop2 |
T |
C |
6: 125,110,529 (GRCm39) |
|
probably null |
Het |
Nrxn1 |
T |
C |
17: 90,896,218 (GRCm39) |
N984S |
probably damaging |
Het |
Ntm |
A |
C |
9: 28,920,671 (GRCm39) |
L86R |
probably damaging |
Het |
Numa1 |
T |
A |
7: 101,661,219 (GRCm39) |
D1847E |
possibly damaging |
Het |
Odf2l |
A |
G |
3: 144,845,624 (GRCm39) |
Q334R |
probably damaging |
Het |
Or10ak11 |
A |
T |
4: 118,687,588 (GRCm39) |
|
probably null |
Het |
Or2ag2 |
C |
T |
7: 106,485,134 (GRCm39) |
V297I |
possibly damaging |
Het |
Or4a39 |
T |
A |
2: 89,237,316 (GRCm39) |
T36S |
probably damaging |
Het |
Or5ac17 |
T |
C |
16: 59,036,296 (GRCm39) |
R227G |
probably benign |
Het |
Or6ae1 |
A |
T |
7: 139,742,722 (GRCm39) |
V47E |
possibly damaging |
Het |
Or6c203 |
A |
G |
10: 129,010,224 (GRCm39) |
V222A |
probably benign |
Het |
Pacc1 |
A |
G |
1: 191,073,037 (GRCm39) |
R153G |
probably benign |
Het |
Pcdhb19 |
A |
T |
18: 37,630,776 (GRCm39) |
K190N |
probably damaging |
Het |
Pdik1l |
A |
G |
4: 134,006,352 (GRCm39) |
F197L |
probably damaging |
Het |
Rnf113a2 |
T |
C |
12: 84,464,764 (GRCm39) |
F219L |
probably damaging |
Het |
Rnf208 |
A |
C |
2: 25,133,776 (GRCm39) |
T157P |
probably damaging |
Het |
Scn8a |
A |
T |
15: 100,881,865 (GRCm39) |
D644V |
probably damaging |
Het |
Thbs3 |
T |
A |
3: 89,125,401 (GRCm39) |
C204S |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,851,565 (GRCm39) |
I444T |
probably damaging |
Het |
Trpm8 |
A |
T |
1: 88,282,191 (GRCm39) |
I696F |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,660,941 (GRCm39) |
V7422D |
possibly damaging |
Het |
Ufl1 |
A |
G |
4: 25,278,038 (GRCm39) |
V139A |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,308,238 (GRCm39) |
V381D |
probably benign |
Het |
Vgll3 |
T |
A |
16: 65,636,367 (GRCm39) |
Y173N |
probably damaging |
Het |
Vmn1r9 |
A |
G |
6: 57,048,158 (GRCm39) |
T78A |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,472,114 (GRCm39) |
L806M |
probably damaging |
Het |
Vps13d |
A |
C |
4: 144,895,079 (GRCm39) |
H394Q |
probably benign |
Het |
Wdr53 |
T |
A |
16: 32,075,536 (GRCm39) |
V247D |
probably damaging |
Het |
Wdr81 |
A |
T |
11: 75,338,695 (GRCm39) |
L1488Q |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,809,732 (GRCm39) |
D3G |
possibly damaging |
Het |
Zfp93 |
G |
T |
7: 23,975,725 (GRCm39) |
C570F |
probably damaging |
Het |
Zfp943 |
C |
T |
17: 22,212,357 (GRCm39) |
T481I |
probably benign |
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 |
R5026:Gria1
|
UTSW |
11 |
57,201,522 (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 |
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 |
|
Posted On |
2017-06-26 |