Incidental Mutation 'R0590:Gria1'
ID |
55934 |
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 |
038780-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0590 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57180235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 728
(Q728H)
|
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: Q728H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044494 Gene: ENSMUSG00000020524 AA Change: Q728H
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: Q728H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091731 Gene: ENSMUSG00000020524 AA Change: Q728H
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: Q659H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117746 Gene: ENSMUSG00000020524 AA Change: Q659H
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
Validation Efficiency |
100% (47/47) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat2 |
C |
T |
4: 49,383,273 (GRCm39) |
M93I |
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,949,073 (GRCm39) |
D196G |
probably benign |
Het |
Adhfe1 |
T |
A |
1: 9,618,378 (GRCm39) |
|
probably null |
Het |
AI661453 |
A |
G |
17: 47,777,999 (GRCm39) |
|
probably benign |
Het |
Apc |
G |
T |
18: 34,449,283 (GRCm39) |
E2026* |
probably null |
Het |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Cad |
T |
C |
5: 31,219,575 (GRCm39) |
S688P |
probably damaging |
Het |
Ccdc191 |
C |
T |
16: 43,751,704 (GRCm39) |
R345* |
probably null |
Het |
Dcaf13 |
T |
A |
15: 39,008,480 (GRCm39) |
|
probably benign |
Het |
Drc1 |
A |
G |
5: 30,520,480 (GRCm39) |
D607G |
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,579,683 (GRCm39) |
R841G |
probably benign |
Het |
Gli1 |
G |
T |
10: 127,167,432 (GRCm39) |
A607E |
possibly damaging |
Het |
Gls |
G |
A |
1: 52,251,534 (GRCm39) |
|
probably benign |
Het |
Hcrtr1 |
A |
G |
4: 130,029,487 (GRCm39) |
L198P |
probably damaging |
Het |
Ifngr1 |
T |
A |
10: 19,479,690 (GRCm39) |
|
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,181,769 (GRCm39) |
V954A |
possibly damaging |
Het |
Kcnh5 |
G |
T |
12: 75,012,035 (GRCm39) |
A628D |
probably damaging |
Het |
Kif14 |
T |
C |
1: 136,410,210 (GRCm39) |
S646P |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,935,966 (GRCm39) |
S133P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,027,302 (GRCm39) |
M7143V |
probably damaging |
Het |
Nelfa |
G |
A |
5: 34,059,169 (GRCm39) |
P229S |
probably damaging |
Het |
Nfatc2 |
T |
C |
2: 168,413,119 (GRCm39) |
T169A |
probably damaging |
Het |
Nr1h4 |
A |
G |
10: 89,292,429 (GRCm39) |
Y398H |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,610,815 (GRCm39) |
E511G |
probably damaging |
Het |
Ocstamp |
T |
A |
2: 165,239,671 (GRCm39) |
R172W |
probably damaging |
Het |
Or10ag60 |
A |
G |
2: 87,438,338 (GRCm39) |
E202G |
probably damaging |
Het |
Or8d1 |
T |
A |
9: 38,766,766 (GRCm39) |
M136K |
probably damaging |
Het |
Or8g19 |
T |
C |
9: 39,056,017 (GRCm39) |
V207A |
probably benign |
Het |
Phf14 |
G |
A |
6: 11,961,577 (GRCm39) |
V405I |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,196,057 (GRCm39) |
R238H |
probably damaging |
Het |
Pole |
A |
G |
5: 110,465,792 (GRCm39) |
E1240G |
probably benign |
Het |
Prdm15 |
A |
G |
16: 97,598,961 (GRCm39) |
I899T |
possibly damaging |
Het |
Psip1 |
T |
C |
4: 83,376,381 (GRCm39) |
N486S |
probably benign |
Het |
Rlf |
A |
G |
4: 121,028,030 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,997,759 (GRCm39) |
S255P |
probably damaging |
Het |
Rusf1 |
A |
G |
7: 127,896,642 (GRCm39) |
L134P |
probably damaging |
Het |
Sema6c |
A |
G |
3: 95,079,934 (GRCm39) |
K711E |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,021,237 (GRCm39) |
|
probably benign |
Het |
Trim36 |
T |
G |
18: 46,305,643 (GRCm39) |
S435R |
probably benign |
Het |
Ucp1 |
A |
G |
8: 84,018,232 (GRCm39) |
|
probably benign |
Het |
Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
Vmn1r23 |
A |
G |
6: 57,903,349 (GRCm39) |
V143A |
probably benign |
Het |
Wdfy4 |
T |
A |
14: 32,763,131 (GRCm39) |
Q2166L |
probably benign |
Het |
Zc3h7b |
C |
T |
15: 81,661,199 (GRCm39) |
T346M |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,467,693 (GRCm39) |
V2617D |
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 |
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 |
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'- TGTGTGATCAAGCTCCACTCAGCTC -3'
(R):5'- TGGTAAATGCAGCAGCTTCGGTCC -3'
Sequencing Primer
(F):5'- ATGGCTTAACCCTGGTTTCG -3'
(R):5'- AGCTTCGGTCCTGAGAGAG -3'
|
Posted On |
2013-07-11 |