Incidental Mutation 'R5132:Gria1'
| ID |
395879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gria1
|
| Ensembl Gene |
ENSMUSG00000020524 |
| Gene Name |
glutamate receptor, ionotropic, AMPA1 (alpha 1) |
| Synonyms |
Glr1, Glur-1, GluRA, HIPA1, GluR1, GluR-A, 2900051M01Rik, Glur1, GluA1, Glr-1 |
| MMRRC Submission |
042720-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5132 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
57011387-57330244 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57289399 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 656
(Y656C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
| AlphaFold |
P23818 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036315
AA Change: Y725C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: Y725C
| 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: Y725C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: Y725C
| 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: Y656C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: Y656C
| 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 |
0.9691 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
T |
1: 156,641,832 (GRCm38) |
K785* |
probably null |
Het |
| Acad11 |
A |
T |
9: 104,126,592 (GRCm38) |
I628L |
probably benign |
Het |
| Ago1 |
T |
C |
4: 126,461,723 (GRCm38) |
I98V |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,563,396 (GRCm38) |
|
probably benign |
Het |
| Calr3 |
C |
T |
8: 72,431,368 (GRCm38) |
|
probably null |
Het |
| Cdc23 |
C |
A |
18: 34,651,689 (GRCm38) |
V7L |
unknown |
Het |
| Cdc42ep3 |
C |
T |
17: 79,335,374 (GRCm38) |
R39H |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,629,496 (GRCm38) |
Y493C |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,022,408 (GRCm38) |
D66E |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,837,291 (GRCm38) |
D287G |
unknown |
Het |
| Gm8888 |
A |
G |
15: 96,767,011 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr25 |
G |
T |
1: 136,260,365 (GRCm38) |
A170E |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 25,065,204 (GRCm38) |
V145I |
probably benign |
Het |
| Htt |
T |
C |
5: 34,905,679 (GRCm38) |
V2885A |
possibly damaging |
Het |
| Larp6 |
A |
G |
9: 60,737,210 (GRCm38) |
E211G |
probably damaging |
Het |
| Magi1 |
C |
A |
6: 93,683,091 (GRCm38) |
|
probably null |
Het |
| Mtbp |
A |
G |
15: 55,558,569 (GRCm38) |
S63G |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,247,769 (GRCm38) |
S513T |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 25,678,839 (GRCm38) |
D670G |
possibly damaging |
Het |
| Or10ag56 |
A |
T |
2: 87,308,938 (GRCm38) |
M50L |
probably damaging |
Het |
| Or4k49 |
T |
A |
2: 111,664,999 (GRCm38) |
Y258N |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,755,270 (GRCm38) |
V138A |
probably damaging |
Het |
| Pcdh7 |
T |
C |
5: 57,728,121 (GRCm38) |
V1061A |
probably benign |
Het |
| Pdia4 |
A |
G |
6: 47,796,735 (GRCm38) |
I560T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,110,347 (GRCm38) |
F733L |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,072,682 (GRCm38) |
|
probably benign |
Het |
| Prkca |
T |
C |
11: 108,192,117 (GRCm38) |
|
probably benign |
Het |
| Pspc1 |
A |
T |
14: 56,723,250 (GRCm38) |
S473T |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 34,989,812 (GRCm38) |
|
probably benign |
Het |
| Scn3a |
C |
T |
2: 65,468,204 (GRCm38) |
V1384I |
probably benign |
Het |
| Serpinb6a |
C |
T |
13: 33,918,322 (GRCm38) |
D307N |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,973,173 (GRCm38) |
E255G |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,517,178 (GRCm38) |
|
probably benign |
Het |
| St7 |
A |
T |
6: 17,854,957 (GRCm38) |
I298F |
probably damaging |
Het |
| Tgm7 |
A |
G |
2: 121,104,219 (GRCm38) |
F93L |
probably damaging |
Het |
| Timm23 |
A |
T |
14: 32,193,945 (GRCm38) |
D56E |
probably damaging |
Het |
| Tmem170 |
A |
T |
8: 111,869,725 (GRCm38) |
M56K |
probably benign |
Het |
|
| Other mutations in Gria1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00475:Gria1
|
APN |
11 |
57,242,941 (GRCm38) |
nonsense |
probably null |
|
|
IGL00807:Gria1
|
APN |
11 |
57,012,040 (GRCm38) |
missense |
probably benign |
|
|
IGL00816:Gria1
|
APN |
11 |
57,317,742 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01110:Gria1
|
APN |
11 |
57,289,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01116:Gria1
|
APN |
11 |
57,236,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01120:Gria1
|
APN |
11 |
57,317,669 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01843:Gria1
|
APN |
11 |
57,317,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02135:Gria1
|
APN |
11 |
57,185,853 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02308:Gria1
|
APN |
11 |
57,236,924 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02554:Gria1
|
APN |
11 |
57,289,488 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02813:Gria1
|
APN |
11 |
57,283,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03071:Gria1
|
APN |
11 |
57,012,110 (GRCm38) |
splice site |
probably null |
|
|
IGL03326:Gria1
|
APN |
11 |
57,317,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Gria1
|
UTSW |
11 |
57,185,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0087:Gria1
|
UTSW |
11 |
57,317,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0387:Gria1
|
UTSW |
11 |
57,309,884 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0399:Gria1
|
UTSW |
11 |
57,186,027 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0502:Gria1
|
UTSW |
11 |
57,189,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0503:Gria1
|
UTSW |
11 |
57,189,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0549:Gria1
|
UTSW |
11 |
57,228,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0590:Gria1
|
UTSW |
11 |
57,289,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1377:Gria1
|
UTSW |
11 |
57,201,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1395:Gria1
|
UTSW |
11 |
57,283,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1422:Gria1
|
UTSW |
11 |
57,189,788 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1581:Gria1
|
UTSW |
11 |
57,237,010 (GRCm38) |
splice site |
probably null |
|
|
R2002:Gria1
|
UTSW |
11 |
57,012,104 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2064:Gria1
|
UTSW |
11 |
57,317,708 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2255:Gria1
|
UTSW |
11 |
57,185,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2507:Gria1
|
UTSW |
11 |
57,289,320 (GRCm38) |
missense |
probably null |
0.30 |
|
R2965:Gria1
|
UTSW |
11 |
57,185,801 (GRCm38) |
nonsense |
probably null |
|
|
R3012:Gria1
|
UTSW |
11 |
57,289,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3151:Gria1
|
UTSW |
11 |
57,283,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3807:Gria1
|
UTSW |
11 |
57,310,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5026:Gria1
|
UTSW |
11 |
57,310,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5222:Gria1
|
UTSW |
11 |
57,189,797 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5303:Gria1
|
UTSW |
11 |
57,243,025 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5332:Gria1
|
UTSW |
11 |
57,327,621 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5413:Gria1
|
UTSW |
11 |
57,217,794 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5748:Gria1
|
UTSW |
11 |
57,309,876 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5878:Gria1
|
UTSW |
11 |
57,317,802 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5937:Gria1
|
UTSW |
11 |
57,189,733 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5995:Gria1
|
UTSW |
11 |
57,289,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6031:Gria1
|
UTSW |
11 |
57,217,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6031:Gria1
|
UTSW |
11 |
57,217,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6180:Gria1
|
UTSW |
11 |
57,242,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6187:Gria1
|
UTSW |
11 |
57,238,110 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6262:Gria1
|
UTSW |
11 |
57,242,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6828:Gria1
|
UTSW |
11 |
57,289,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7374:Gria1
|
UTSW |
11 |
57,189,808 (GRCm38) |
missense |
probably benign |
|
|
R7507:Gria1
|
UTSW |
11 |
57,228,939 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7511:Gria1
|
UTSW |
11 |
57,283,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7691:Gria1
|
UTSW |
11 |
57,236,987 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7898:Gria1
|
UTSW |
11 |
57,242,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7931:Gria1
|
UTSW |
11 |
57,310,525 (GRCm38) |
intron |
probably benign |
|
|
R7956:Gria1
|
UTSW |
11 |
57,189,800 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8189:Gria1
|
UTSW |
11 |
57,217,799 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8353:Gria1
|
UTSW |
11 |
57,243,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8453:Gria1
|
UTSW |
11 |
57,243,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8472:Gria1
|
UTSW |
11 |
57,327,584 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8478:Gria1
|
UTSW |
11 |
57,309,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9165:Gria1
|
UTSW |
11 |
57,185,933 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9243:Gria1
|
UTSW |
11 |
57,238,062 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9450:Gria1
|
UTSW |
11 |
57,309,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATTCAAGCACTGCCATGGC -3'
(R):5'- AGGCTCGCATTATGCATGGG -3'
Sequencing Primer
(F):5'- TTCAAGCACTGCCATGGCTTAAC -3'
(R):5'- GGGCCTGTGGTAAATGCAGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation