Incidental Mutation 'IGL02135:Gria1'
| ID |
281295 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02135
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57076679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 94
(V94A)
|
| 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: V94A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: V94A
| 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: V94A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: V94A
| 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: V25A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: V25A
| 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
|
| Coding Region Coverage |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,949,205 (GRCm39) |
H1034R |
possibly damaging |
Het |
| Aoc1l1 |
G |
A |
6: 48,952,498 (GRCm39) |
R141Q |
probably benign |
Het |
| App |
A |
G |
16: 84,876,726 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
G |
T |
11: 97,342,528 (GRCm39) |
R270L |
probably damaging |
Het |
| Arhgap36 |
T |
C |
X: 48,586,066 (GRCm39) |
I342T |
possibly damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,883,461 (GRCm39) |
M1356K |
possibly damaging |
Het |
| Armh4 |
T |
C |
14: 50,011,386 (GRCm39) |
K107R |
probably damaging |
Het |
| Asap3 |
A |
C |
4: 135,968,464 (GRCm39) |
|
probably null |
Het |
| Atl2 |
A |
G |
17: 80,167,214 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
T |
A |
1: 110,066,004 (GRCm39) |
Y759* |
probably null |
Het |
| Celsr3 |
A |
G |
9: 108,704,755 (GRCm39) |
T413A |
probably benign |
Het |
| Cep97 |
A |
T |
16: 55,743,330 (GRCm39) |
I102K |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 105,466,813 (GRCm39) |
S441P |
probably benign |
Het |
| Cops2 |
T |
C |
2: 125,674,163 (GRCm39) |
T435A |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,911,989 (GRCm39) |
N56S |
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,457,205 (GRCm39) |
R746* |
probably null |
Het |
| Dnah5 |
T |
A |
15: 28,248,031 (GRCm39) |
C723S |
possibly damaging |
Het |
| Dnah7a |
A |
C |
1: 53,662,632 (GRCm39) |
V643G |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 66,008,318 (GRCm39) |
S836T |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,612,454 (GRCm39) |
V164D |
probably damaging |
Het |
| Gcfc2 |
A |
T |
6: 81,918,381 (GRCm39) |
D357V |
probably damaging |
Het |
| Grem1 |
T |
C |
2: 113,580,132 (GRCm39) |
N123S |
probably damaging |
Het |
| Hipk2 |
G |
A |
6: 38,795,934 (GRCm39) |
H112Y |
possibly damaging |
Het |
| Il7r |
T |
C |
15: 9,508,092 (GRCm39) |
N410S |
probably benign |
Het |
| Insr |
A |
T |
8: 3,308,741 (GRCm39) |
S98R |
probably damaging |
Het |
| Klhl7 |
T |
A |
5: 24,346,279 (GRCm39) |
Y308* |
probably null |
Het |
| Lcp1 |
T |
C |
14: 75,437,926 (GRCm39) |
V112A |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,419,920 (GRCm39) |
R84* |
probably null |
Het |
| Mgst1 |
A |
T |
6: 138,124,766 (GRCm39) |
M27L |
probably damaging |
Het |
| Mroh7 |
A |
G |
4: 106,559,707 (GRCm39) |
L740P |
probably damaging |
Het |
| Mybpc3 |
T |
C |
2: 90,955,171 (GRCm39) |
F507L |
possibly damaging |
Het |
| Nqo2 |
A |
T |
13: 34,169,326 (GRCm39) |
K183* |
probably null |
Het |
| Nt5c1b |
T |
C |
12: 10,427,194 (GRCm39) |
Y315H |
probably damaging |
Het |
| Odc1 |
T |
A |
12: 17,597,674 (GRCm39) |
I48N |
probably damaging |
Het |
| Or2a56 |
A |
G |
6: 42,932,585 (GRCm39) |
D51G |
probably damaging |
Het |
| Or7a37 |
T |
A |
10: 78,805,940 (GRCm39) |
S152R |
probably damaging |
Het |
| Osbpl5 |
T |
A |
7: 143,258,862 (GRCm39) |
D236V |
probably damaging |
Het |
| Prkg1 |
A |
G |
19: 30,970,476 (GRCm39) |
Y212H |
probably benign |
Het |
| Pttg1ip |
T |
C |
10: 77,425,578 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
T |
A |
12: 103,659,974 (GRCm39) |
T103S |
possibly damaging |
Het |
| Skp2 |
T |
C |
15: 9,125,234 (GRCm39) |
D115G |
probably benign |
Het |
| Slc25a30 |
C |
T |
14: 76,004,435 (GRCm39) |
V221I |
probably benign |
Het |
| Slc7a3 |
A |
C |
X: 100,123,098 (GRCm39) |
D609E |
probably benign |
Het |
| Strc |
C |
T |
2: 121,195,315 (GRCm39) |
G1656D |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,441,891 (GRCm39) |
F234L |
probably damaging |
Het |
| Tgm7 |
T |
G |
2: 120,929,519 (GRCm39) |
I252L |
possibly damaging |
Het |
| Tlr5 |
A |
G |
1: 182,800,819 (GRCm39) |
D41G |
possibly damaging |
Het |
| Tns2 |
T |
C |
15: 102,021,461 (GRCm39) |
L1034P |
probably damaging |
Het |
| Trim15 |
A |
G |
17: 37,177,956 (GRCm39) |
V13A |
probably benign |
Het |
| Uros |
C |
T |
7: 133,288,734 (GRCm39) |
V258M |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,853,723 (GRCm39) |
Y378C |
probably damaging |
Het |
| Wdr75 |
G |
A |
1: 45,856,608 (GRCm39) |
|
probably null |
Het |
| Wdr82 |
G |
T |
9: 106,048,443 (GRCm39) |
R9L |
possibly damaging |
Het |
| Ybx3 |
G |
A |
6: 131,357,892 (GRCm39) |
R125C |
probably damaging |
Het |
| Zc3h12b |
A |
G |
X: 94,942,870 (GRCm39) |
T49A |
probably benign |
Het |
| Zfyve27 |
G |
A |
19: 42,172,575 (GRCm39) |
V279M |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation