Incidental Mutation 'R3012:Gria1'
| ID |
257543 |
| 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 |
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3012 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
57011387-57330244 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57289434 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 737
(V737M)
|
| 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: V737M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: V737M
| 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: V737M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: V737M
| 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: V668M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: V668M
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
G |
T |
19: 40,557,691 |
Y585* |
probably null |
Het |
| Ankrd17 |
G |
A |
5: 90,230,868 |
P2563S |
probably damaging |
Het |
| Atg10 |
A |
T |
13: 91,154,278 |
F47Y |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,814,668 |
R798Q |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,874,930 |
D535G |
probably damaging |
Het |
| Dgat1 |
T |
A |
15: 76,503,393 |
Q308H |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,193,342 |
I1701T |
possibly damaging |
Het |
| E330009J07Rik |
T |
C |
6: 40,435,992 |
E45G |
probably benign |
Het |
| Egr2 |
GAA |
GA |
10: 67,539,903 |
|
probably null |
Het |
| Fes |
G |
C |
7: 80,387,167 |
S56R |
possibly damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,803,895 |
H84R |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,695,570 |
|
probably null |
Het |
| Il15 |
T |
A |
8: 82,344,420 |
N22I |
probably damaging |
Het |
| Me1 |
A |
G |
9: 86,611,912 |
S323P |
probably benign |
Het |
| Olfr713 |
T |
C |
7: 107,036,362 |
F69S |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,595,416 |
|
probably null |
Het |
| Pcdhga7 |
A |
G |
18: 37,715,638 |
T233A |
probably benign |
Het |
| Rab36 |
G |
A |
10: 75,044,496 |
V63I |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,604,563 |
V128F |
possibly damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 123,239,372 |
|
probably null |
Het |
| Tbc1d32 |
A |
G |
10: 56,173,915 |
V509A |
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,542,525 |
T1428S |
probably benign |
Het |
| Ttc27 |
A |
T |
17: 74,840,459 |
I669F |
probably benign |
Het |
| Tubb3 |
T |
G |
8: 123,421,236 |
C303G |
probably damaging |
Het |
| Tulp2 |
G |
T |
7: 45,518,763 |
V188L |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,166,163 |
Y840H |
probably damaging |
Het |
|
| Other mutations in Gria1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00475:Gria1
|
APN |
11 |
57242941 |
nonsense |
probably null |
|
|
IGL00807:Gria1
|
APN |
11 |
57012040 |
missense |
probably benign |
|
|
IGL00816:Gria1
|
APN |
11 |
57317742 |
missense |
possibly damaging |
0.93 |
|
IGL01110:Gria1
|
APN |
11 |
57289381 |
missense |
probably damaging |
1.00 |
|
IGL01116:Gria1
|
APN |
11 |
57236975 |
missense |
probably damaging |
1.00 |
|
IGL01120:Gria1
|
APN |
11 |
57317669 |
missense |
probably damaging |
0.99 |
|
IGL01843:Gria1
|
APN |
11 |
57317774 |
missense |
probably damaging |
1.00 |
|
IGL02135:Gria1
|
APN |
11 |
57185853 |
missense |
probably damaging |
1.00 |
|
IGL02308:Gria1
|
APN |
11 |
57236924 |
missense |
probably benign |
0.00 |
|
IGL02554:Gria1
|
APN |
11 |
57289488 |
missense |
possibly damaging |
0.72 |
|
IGL02813:Gria1
|
APN |
11 |
57283584 |
missense |
probably damaging |
1.00 |
|
IGL03071:Gria1
|
APN |
11 |
57012110 |
splice site |
probably null |
|
|
IGL03326:Gria1
|
APN |
11 |
57317773 |
missense |
probably damaging |
1.00 |
|
PIT4445001:Gria1
|
UTSW |
11 |
57185838 |
missense |
probably damaging |
1.00 |
|
R0087:Gria1
|
UTSW |
11 |
57317712 |
missense |
probably damaging |
1.00 |
|
R0387:Gria1
|
UTSW |
11 |
57309884 |
critical splice donor site |
probably null |
|
|
R0399:Gria1
|
UTSW |
11 |
57186027 |
missense |
probably damaging |
0.97 |
|
R0502:Gria1
|
UTSW |
11 |
57189716 |
missense |
probably damaging |
1.00 |
|
R0503:Gria1
|
UTSW |
11 |
57189716 |
missense |
probably damaging |
1.00 |
|
R0549:Gria1
|
UTSW |
11 |
57228973 |
missense |
probably damaging |
1.00 |
|
R0590:Gria1
|
UTSW |
11 |
57289409 |
missense |
probably damaging |
1.00 |
|
R1377:Gria1
|
UTSW |
11 |
57201176 |
missense |
probably damaging |
1.00 |
|
R1395:Gria1
|
UTSW |
11 |
57283566 |
missense |
probably damaging |
1.00 |
|
R1422:Gria1
|
UTSW |
11 |
57189788 |
missense |
probably benign |
0.00 |
|
R1581:Gria1
|
UTSW |
11 |
57237010 |
splice site |
probably null |
|
|
R2002:Gria1
|
UTSW |
11 |
57012104 |
missense |
possibly damaging |
0.93 |
|
R2064:Gria1
|
UTSW |
11 |
57317708 |
missense |
probably damaging |
0.98 |
|
R2255:Gria1
|
UTSW |
11 |
57185949 |
missense |
probably damaging |
1.00 |
|
R2507:Gria1
|
UTSW |
11 |
57289320 |
missense |
probably null |
0.30 |
|
R2965:Gria1
|
UTSW |
11 |
57185801 |
nonsense |
probably null |
|
|
R3151:Gria1
|
UTSW |
11 |
57283562 |
missense |
probably damaging |
1.00 |
|
R3807:Gria1
|
UTSW |
11 |
57310678 |
missense |
probably damaging |
1.00 |
|
R5026:Gria1
|
UTSW |
11 |
57310696 |
missense |
probably damaging |
1.00 |
|
R5132:Gria1
|
UTSW |
11 |
57289399 |
missense |
probably damaging |
1.00 |
|
R5222:Gria1
|
UTSW |
11 |
57189797 |
missense |
probably benign |
0.22 |
|
R5303:Gria1
|
UTSW |
11 |
57243025 |
missense |
probably benign |
0.01 |
|
R5332:Gria1
|
UTSW |
11 |
57327621 |
missense |
possibly damaging |
0.93 |
|
R5413:Gria1
|
UTSW |
11 |
57217794 |
missense |
probably benign |
0.00 |
|
R5748:Gria1
|
UTSW |
11 |
57309876 |
missense |
probably benign |
0.00 |
|
R5878:Gria1
|
UTSW |
11 |
57317802 |
critical splice donor site |
probably null |
|
|
R5937:Gria1
|
UTSW |
11 |
57189733 |
missense |
probably benign |
0.00 |
|
R5995:Gria1
|
UTSW |
11 |
57289285 |
missense |
probably damaging |
1.00 |
|
R6031:Gria1
|
UTSW |
11 |
57217782 |
missense |
probably damaging |
1.00 |
|
R6031:Gria1
|
UTSW |
11 |
57217782 |
missense |
probably damaging |
1.00 |
|
R6180:Gria1
|
UTSW |
11 |
57242792 |
missense |
probably damaging |
1.00 |
|
R6187:Gria1
|
UTSW |
11 |
57238110 |
missense |
possibly damaging |
0.84 |
|
R6262:Gria1
|
UTSW |
11 |
57242854 |
missense |
probably damaging |
1.00 |
|
R6828:Gria1
|
UTSW |
11 |
57289462 |
missense |
probably damaging |
1.00 |
|
R7374:Gria1
|
UTSW |
11 |
57189808 |
missense |
probably benign |
|
|
R7507:Gria1
|
UTSW |
11 |
57228939 |
missense |
probably benign |
0.14 |
|
R7511:Gria1
|
UTSW |
11 |
57283625 |
missense |
probably damaging |
1.00 |
|
R7691:Gria1
|
UTSW |
11 |
57236987 |
missense |
possibly damaging |
0.94 |
|
R7898:Gria1
|
UTSW |
11 |
57242765 |
missense |
probably damaging |
1.00 |
|
R7931:Gria1
|
UTSW |
11 |
57310525 |
intron |
probably benign |
|
|
R7956:Gria1
|
UTSW |
11 |
57189800 |
missense |
possibly damaging |
0.93 |
|
R8189:Gria1
|
UTSW |
11 |
57217799 |
missense |
probably benign |
0.00 |
|
R8353:Gria1
|
UTSW |
11 |
57243051 |
missense |
probably damaging |
1.00 |
|
R8453:Gria1
|
UTSW |
11 |
57243051 |
missense |
probably damaging |
1.00 |
|
R8472:Gria1
|
UTSW |
11 |
57327584 |
missense |
probably benign |
0.11 |
|
R8478:Gria1
|
UTSW |
11 |
57309842 |
missense |
probably damaging |
1.00 |
|
R9165:Gria1
|
UTSW |
11 |
57185933 |
missense |
possibly damaging |
0.96 |
|
R9243:Gria1
|
UTSW |
11 |
57238062 |
missense |
probably benign |
0.06 |
|
R9450:Gria1
|
UTSW |
11 |
57309789 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTTAACCCTGGTTTCG -3'
(R):5'- GAAGATCTCTTCCTGGAGGCTC -3'
Sequencing Primer
(F):5'- CTGCCAGAGGTCTAAAATCGCTG -3'
(R):5'- TCCTGGAGGCTCGCATTATGC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation