Incidental Mutation 'R2002:Gria1'
| ID |
223222 |
| 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 |
040012-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56902930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 24
(N24I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000125292]
[ENSMUST00000151045]
|
| AlphaFold |
P23818 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036315
AA Change: N24I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: N24I
| 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 |
possibly damaging
Transcript: ENSMUST00000094179
AA Change: N24I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: N24I
| 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 benign
Transcript: ENSMUST00000125292
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151045
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
| 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 |
0.1333 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.6%
|
| Validation Efficiency |
97% (72/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930548G14Rik |
T |
C |
15: 46,489,002 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
T |
A |
5: 8,955,989 (GRCm39) |
S98T |
probably benign |
Het |
| Acan |
T |
C |
7: 78,750,541 (GRCm39) |
S1771P |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,205,987 (GRCm39) |
Q41L |
probably benign |
Het |
| Ak2 |
T |
A |
4: 128,902,022 (GRCm39) |
S232T |
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,657,564 (GRCm39) |
|
probably benign |
Het |
| Ano7 |
T |
C |
1: 93,328,303 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,086,300 (GRCm39) |
H68Q |
possibly damaging |
Het |
| Apaf1 |
A |
G |
10: 90,897,676 (GRCm39) |
V269A |
possibly damaging |
Het |
| Apba2 |
A |
T |
7: 64,383,290 (GRCm39) |
I368F |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,293,747 (GRCm39) |
M513V |
probably benign |
Het |
| Asb5 |
G |
A |
8: 55,036,655 (GRCm39) |
V116M |
probably damaging |
Het |
| Atg16l2 |
A |
G |
7: 100,944,127 (GRCm39) |
S280P |
possibly damaging |
Het |
| Atp6v0c |
G |
T |
17: 24,383,835 (GRCm39) |
T40K |
probably damaging |
Het |
| Cdk2ap2 |
A |
G |
19: 4,147,903 (GRCm39) |
M57V |
possibly damaging |
Het |
| Cip2a |
T |
C |
16: 48,826,214 (GRCm39) |
|
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,450,704 (GRCm39) |
N172S |
probably benign |
Het |
| Ddx55 |
T |
A |
5: 124,704,503 (GRCm39) |
V370E |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,831 (GRCm39) |
T48A |
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,911,052 (GRCm39) |
R4490W |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,326,425 (GRCm39) |
S929R |
unknown |
Het |
| Erbb3 |
T |
C |
10: 128,422,094 (GRCm39) |
Y50C |
probably benign |
Het |
| Fam209 |
C |
A |
2: 172,314,689 (GRCm39) |
N59K |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,449,931 (GRCm39) |
E106G |
probably benign |
Het |
| Frmd4a |
A |
C |
2: 4,577,176 (GRCm39) |
K344T |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,325,814 (GRCm39) |
E617G |
probably damaging |
Het |
| Gm5089 |
T |
A |
14: 122,673,686 (GRCm39) |
I12F |
unknown |
Het |
| Gm7052 |
T |
A |
17: 22,258,920 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,710,243 (GRCm39) |
E1101G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
C |
14: 23,387,097 (GRCm39) |
S982A |
probably damaging |
Het |
| Khdrbs3 |
T |
A |
15: 68,885,328 (GRCm39) |
|
probably benign |
Het |
| Kif23 |
A |
T |
9: 61,834,666 (GRCm39) |
C426* |
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,124,497 (GRCm39) |
A319S |
probably benign |
Het |
| Ly6c1 |
T |
A |
15: 74,920,342 (GRCm39) |
T7S |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Mamdc4 |
A |
T |
2: 25,457,244 (GRCm39) |
W548R |
probably damaging |
Het |
| Mfsd2a |
C |
T |
4: 122,850,609 (GRCm39) |
R88Q |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,737 (GRCm39) |
T158A |
probably benign |
Het |
| Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,485,839 (GRCm39) |
V1041A |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,586 (GRCm39) |
H655L |
possibly damaging |
Het |
| Npas2 |
T |
C |
1: 39,377,276 (GRCm39) |
V546A |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 90,299,089 (GRCm39) |
A400T |
probably damaging |
Het |
| Oog3 |
G |
T |
4: 143,884,675 (GRCm39) |
H420Q |
possibly damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,865 (GRCm39) |
S78R |
possibly damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,744 (GRCm39) |
V316E |
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,817 (GRCm39) |
H266R |
probably benign |
Het |
| Pak5 |
T |
A |
2: 135,958,557 (GRCm39) |
H177L |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,124,477 (GRCm39) |
I683V |
probably benign |
Het |
| Pea15a |
T |
C |
1: 172,026,252 (GRCm39) |
I90V |
probably benign |
Het |
| Plagl1 |
C |
A |
10: 13,004,402 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
A |
G |
7: 44,628,148 (GRCm39) |
V237A |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,027,833 (GRCm39) |
Y910* |
probably null |
Het |
| Rasal3 |
T |
A |
17: 32,612,585 (GRCm39) |
T757S |
probably damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,860,223 (GRCm39) |
|
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,506,544 (GRCm39) |
S17P |
probably benign |
Het |
| Scel |
G |
A |
14: 103,779,421 (GRCm39) |
V131M |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,512,427 (GRCm39) |
R188Q |
probably null |
Het |
| Snap29 |
T |
A |
16: 17,224,190 (GRCm39) |
Y68* |
probably null |
Het |
| Spdl1 |
T |
C |
11: 34,713,473 (GRCm39) |
T199A |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,449,828 (GRCm39) |
N14D |
probably benign |
Het |
| Ston1 |
G |
A |
17: 88,942,957 (GRCm39) |
G121D |
probably benign |
Het |
| Syt16 |
G |
A |
12: 74,281,977 (GRCm39) |
G367E |
possibly damaging |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,710 (GRCm39) |
T25A |
possibly damaging |
Het |
| Tmem182 |
T |
A |
1: 40,845,355 (GRCm39) |
Y77N |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,687,627 (GRCm39) |
|
probably benign |
Het |
| Trp73 |
T |
C |
4: 154,165,902 (GRCm39) |
T56A |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,959,947 (GRCm39) |
K1194R |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,830,935 (GRCm39) |
|
probably null |
Het |
| Ube4b |
T |
C |
4: 149,468,254 (GRCm39) |
D174G |
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,953 (GRCm39) |
M238K |
probably damaging |
Het |
| Wsb2 |
T |
A |
5: 117,508,798 (GRCm39) |
N77K |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,741,318 (GRCm39) |
R85Q |
probably benign |
Het |
| Zmynd11 |
T |
A |
13: 9,739,514 (GRCm39) |
|
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 |
|
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 |
|
|
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'- CAGTTTAACTGCTCGGCTCC -3'
(R):5'- CCTGGTGTTCCATTGCTAAGC -3'
Sequencing Primer
(F):5'- TCGGCTCCCCTTCCAAGAG -3'
(R):5'- GGTGTTCCATTGCTAAGCACAACAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation