Incidental Mutation 'R0087:Gria1'
| ID |
19968 |
| 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 |
038374-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57208538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 742
(Y742C)
|
| 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: Y811C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: Y811C
| 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: Y811C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: Y811C
| 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: Y742C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: Y742C
| 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 |
0.7740 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.5%
- 20x: 82.3%
|
| Validation Efficiency |
86% (59/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,535,070 (GRCm39) |
I5732F |
probably damaging |
Het |
| Adss2 |
A |
T |
1: 177,598,788 (GRCm39) |
V330E |
probably benign |
Het |
| Agps |
T |
A |
2: 75,739,979 (GRCm39) |
Y488N |
probably damaging |
Het |
| Ap3s1 |
A |
T |
18: 46,891,106 (GRCm39) |
R66S |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp2a2 |
C |
T |
5: 122,599,024 (GRCm39) |
V593I |
probably benign |
Het |
| Chrna6 |
C |
T |
8: 27,897,014 (GRCm39) |
V288M |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,491,296 (GRCm39) |
L1232F |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,740,288 (GRCm39) |
N1225D |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,106,875 (GRCm39) |
I128T |
probably benign |
Het |
| Dnaaf11 |
T |
C |
15: 66,341,824 (GRCm39) |
T91A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,350,759 (GRCm39) |
T2594S |
probably damaging |
Het |
| Dnah8 |
G |
T |
17: 30,974,093 (GRCm39) |
R2826L |
probably damaging |
Het |
| Elf3 |
A |
G |
1: 135,184,875 (GRCm39) |
Y104H |
probably damaging |
Het |
| Fam222b |
C |
A |
11: 78,044,718 (GRCm39) |
T93N |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,554,006 (GRCm39) |
I211T |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,871,594 (GRCm39) |
T541A |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,109,738 (GRCm39) |
S589P |
unknown |
Het |
| Foxj3 |
T |
A |
4: 119,483,597 (GRCm39) |
V589E |
unknown |
Het |
| Inpp5d |
T |
C |
1: 87,642,860 (GRCm39) |
S672P |
probably damaging |
Het |
| Lrrc19 |
A |
C |
4: 94,529,009 (GRCm39) |
F91C |
probably damaging |
Het |
| Mppe1 |
A |
G |
18: 67,358,775 (GRCm39) |
*398R |
probably null |
Het |
| Mroh3 |
T |
C |
1: 136,118,541 (GRCm39) |
I561V |
probably benign |
Het |
| Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,998,444 (GRCm39) |
T121K |
possibly damaging |
Het |
| Nbr1 |
A |
C |
11: 101,455,519 (GRCm39) |
D91A |
probably benign |
Het |
| Ncam2 |
C |
A |
16: 81,231,789 (GRCm39) |
N84K |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,475 (GRCm39) |
Y118H |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,569 (GRCm39) |
C306S |
probably benign |
Het |
| Or52h9 |
A |
G |
7: 104,202,869 (GRCm39) |
I248V |
possibly damaging |
Het |
| Or52z13 |
A |
G |
7: 103,246,928 (GRCm39) |
Y135C |
probably benign |
Het |
| Or6b6 |
A |
G |
7: 106,571,323 (GRCm39) |
V76A |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,194,585 (GRCm39) |
I121F |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,165,609 (GRCm39) |
I773N |
probably damaging |
Het |
| Pfkfb4 |
G |
T |
9: 108,836,769 (GRCm39) |
V155F |
probably damaging |
Het |
| Pkm |
C |
T |
9: 59,585,382 (GRCm39) |
R455* |
probably null |
Het |
| Plbd2 |
C |
A |
5: 120,632,550 (GRCm39) |
E151* |
probably null |
Het |
| Pld5 |
G |
A |
1: 175,812,025 (GRCm39) |
T353M |
probably damaging |
Het |
| Psme2b |
A |
T |
11: 48,836,544 (GRCm39) |
D134E |
possibly damaging |
Het |
| Rida |
T |
A |
15: 34,488,772 (GRCm39) |
D40V |
possibly damaging |
Het |
| Rnf126 |
A |
T |
10: 79,595,068 (GRCm39) |
H265Q |
probably damaging |
Het |
| Rock2 |
C |
A |
12: 16,978,967 (GRCm39) |
Q86K |
probably benign |
Het |
| Serpinb1b |
A |
T |
13: 33,269,302 (GRCm39) |
T12S |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,046,303 (GRCm39) |
Q277L |
probably benign |
Het |
| Spmap2 |
A |
T |
10: 79,421,785 (GRCm39) |
Y144* |
probably null |
Het |
| Sptlc2 |
T |
A |
12: 87,415,892 (GRCm39) |
H45L |
probably benign |
Het |
| Srsf4 |
A |
G |
4: 131,627,641 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
G |
6: 48,454,719 (GRCm39) |
S2969G |
probably damaging |
Het |
| Steap1 |
C |
T |
5: 5,786,664 (GRCm39) |
G258R |
probably damaging |
Het |
| Stk19 |
A |
T |
17: 35,055,851 (GRCm39) |
M1K |
probably null |
Het |
| Stk-ps2 |
C |
A |
1: 46,069,049 (GRCm39) |
|
noncoding transcript |
Het |
| Taf1c |
C |
T |
8: 120,327,726 (GRCm39) |
R332H |
probably damaging |
Het |
| Thbs4 |
T |
A |
13: 92,891,743 (GRCm39) |
T791S |
probably damaging |
Het |
| Tjap1 |
A |
G |
17: 46,574,652 (GRCm39) |
L21P |
probably damaging |
Het |
| Tmem145 |
A |
G |
7: 25,007,268 (GRCm39) |
Y148C |
probably damaging |
Het |
| Tmem267 |
T |
A |
13: 120,070,810 (GRCm39) |
V155E |
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,956,076 (GRCm39) |
H549L |
possibly damaging |
Het |
| Tyro3 |
T |
G |
2: 119,632,182 (GRCm39) |
I83S |
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Vmn1r53 |
A |
T |
6: 90,200,413 (GRCm39) |
C304S |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,622,917 (GRCm39) |
M1761I |
probably benign |
Het |
| Zfp276 |
T |
C |
8: 123,991,786 (GRCm39) |
Y445H |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,578,536 (GRCm39) |
I859N |
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 |
|
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 |
|
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'- TCCATCTATGAACGCTGAGGAGGG -3'
(R):5'- TGGGCACAGTATTTGCCAGACAC -3'
Sequencing Primer
(F):5'- CGCTGAGGAGGGTGTGG -3'
(R):5'- ACTTCCTGAATGATCCTAACTGC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation