Incidental Mutation 'R0502:Gria1'
| ID |
47212 |
| 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 |
038697-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0502 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 57080542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 175
(V175G)
|
| 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: V175G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: V175G
| 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: V175G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: V175G
| 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: V106G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: V106G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173531
|
| Meta Mutation Damage Score |
0.4531 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,322 (GRCm39) |
H755R |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,150,952 (GRCm39) |
L821P |
probably damaging |
Het |
| Apol10b |
T |
A |
15: 77,476,349 (GRCm39) |
|
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,461,316 (GRCm39) |
E279G |
probably null |
Het |
| Ccar2 |
A |
G |
14: 70,378,431 (GRCm39) |
S625P |
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,387,761 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,776,629 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
G |
11: 69,244,931 (GRCm39) |
V1203A |
probably damaging |
Het |
| Col24a1 |
A |
G |
3: 145,251,071 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,644,550 (GRCm39) |
M1246K |
probably benign |
Het |
| Crot |
A |
G |
5: 9,026,075 (GRCm39) |
V304A |
possibly damaging |
Het |
| Dapk1 |
T |
A |
13: 60,878,662 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,671,319 (GRCm39) |
S984T |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,699,403 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
A |
T |
1: 46,258,704 (GRCm39) |
E1965V |
probably damaging |
Het |
| Dpp4 |
G |
T |
2: 62,195,332 (GRCm39) |
N315K |
probably damaging |
Het |
| Eeig2 |
G |
A |
3: 108,900,001 (GRCm39) |
R116C |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,057,073 (GRCm39) |
S4256R |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Gpatch4 |
A |
G |
3: 87,962,672 (GRCm39) |
D295G |
probably benign |
Het |
| Gpbar1 |
A |
T |
1: 74,318,551 (GRCm39) |
I265F |
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,344,941 (GRCm39) |
|
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,629 (GRCm39) |
|
probably benign |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ifnar1 |
T |
A |
16: 91,298,639 (GRCm39) |
C419S |
probably damaging |
Het |
| Irx4 |
T |
A |
13: 73,414,703 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
G |
13: 114,982,392 (GRCm39) |
N1038H |
probably benign |
Het |
| Kif16b |
C |
T |
2: 142,554,075 (GRCm39) |
D908N |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,122,678 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,844,605 (GRCm39) |
T690A |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,341,361 (GRCm39) |
K940E |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,363,608 (GRCm39) |
S1775P |
probably damaging |
Het |
| Mrps27 |
G |
T |
13: 99,546,303 (GRCm39) |
|
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,481,118 (GRCm39) |
|
probably benign |
Het |
| Nopchap1 |
A |
G |
10: 83,197,920 (GRCm39) |
D42G |
probably damaging |
Het |
| Or2z2 |
T |
C |
11: 58,346,140 (GRCm39) |
I212V |
possibly damaging |
Het |
| Or51a5 |
A |
T |
7: 102,771,643 (GRCm39) |
M112K |
possibly damaging |
Het |
| Pbrm1 |
T |
G |
14: 30,786,777 (GRCm39) |
D631E |
probably benign |
Het |
| Pdc |
A |
T |
1: 150,204,165 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,793,766 (GRCm39) |
S1818P |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,520,954 (GRCm39) |
N784S |
probably benign |
Het |
| Rab35 |
G |
A |
5: 115,783,723 (GRCm39) |
R170Q |
probably benign |
Het |
| Rerg |
A |
T |
6: 137,033,305 (GRCm39) |
C123* |
probably null |
Het |
| Ros1 |
A |
G |
10: 52,070,919 (GRCm39) |
|
probably benign |
Het |
| Siglece |
A |
G |
7: 43,309,355 (GRCm39) |
Y68H |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,288,762 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
T |
C |
2: 130,530,077 (GRCm39) |
K234E |
probably damaging |
Het |
| Sqor |
C |
T |
2: 122,639,970 (GRCm39) |
P158S |
probably benign |
Het |
| Tcerg1 |
C |
T |
18: 42,656,021 (GRCm39) |
P110S |
unknown |
Het |
| Tm6sf2 |
T |
A |
8: 70,530,591 (GRCm39) |
Y224N |
probably damaging |
Het |
| Tmem39b |
A |
C |
4: 129,580,779 (GRCm39) |
Y238D |
possibly damaging |
Het |
| Ttll10 |
T |
C |
4: 156,132,005 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,916,520 (GRCm39) |
L898Q |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,199,027 (GRCm39) |
V1207E |
probably damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,070,176 (GRCm39) |
D775G |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,797,136 (GRCm39) |
|
probably benign |
Het |
| Vmn1r196 |
G |
A |
13: 22,477,557 (GRCm39) |
M65I |
probably benign |
Het |
| Vmn1r87 |
T |
G |
7: 12,865,583 (GRCm39) |
T235P |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,262 (GRCm39) |
M504K |
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,344,449 (GRCm39) |
I943F |
possibly damaging |
Het |
| Zfp78 |
A |
G |
7: 6,376,157 (GRCm39) |
D22G |
probably damaging |
Het |
| Zfp827 |
C |
T |
8: 79,905,706 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
A |
T |
4: 108,576,961 (GRCm39) |
L40* |
probably null |
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 |
|
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'- GACACACAGGGAGCAGTAACTTCAC -3'
(R):5'- TTTTAGCACCCACAGCAGCAGC -3'
Sequencing Primer
(F):5'- GGAGCAGTAACTTCACTTGCTAC -3'
(R):5'- GCAGCACACCCATCTCCTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation