Incidental Mutation 'R6262:Gria1'
| ID |
506773 |
| 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 |
045016-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57133680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 451
(K451E)
|
| 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: K520E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: K520E
| 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: K520E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: K520E
| 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: K451E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: K451E
| 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 |
0.7814 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (58/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,092,917 (GRCm39) |
T289I |
probably benign |
Het |
| Abca2 |
T |
C |
2: 25,334,922 (GRCm39) |
Y1965H |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,125 (GRCm39) |
N455S |
possibly damaging |
Het |
| Art5 |
C |
T |
7: 101,747,338 (GRCm39) |
G147D |
probably benign |
Het |
| Atp5f1a |
G |
A |
18: 77,868,912 (GRCm39) |
V429M |
probably damaging |
Het |
| Calr4 |
A |
T |
4: 109,108,564 (GRCm39) |
N213I |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,841,413 (GRCm39) |
S810P |
probably benign |
Het |
| Cdh4 |
A |
T |
2: 179,439,419 (GRCm39) |
R189W |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,212,606 (GRCm39) |
D84G |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,705,420 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
T |
A |
6: 45,037,046 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
T |
C |
8: 113,529,843 (GRCm39) |
Y684H |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,011,655 (GRCm39) |
V292E |
probably damaging |
Het |
| Dap |
A |
G |
15: 31,235,960 (GRCm39) |
T10A |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 117,894,913 (GRCm39) |
R3645C |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,772,631 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,784,579 (GRCm39) |
M2787K |
probably benign |
Het |
| Efr3a |
T |
C |
15: 65,729,323 (GRCm39) |
S675P |
possibly damaging |
Het |
| Grin3b |
A |
T |
10: 79,810,203 (GRCm39) |
M570L |
probably benign |
Het |
| Hs2st1 |
A |
G |
3: 144,140,374 (GRCm39) |
F316L |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,376,403 (GRCm39) |
T193A |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,246,997 (GRCm39) |
D1108V |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,653,720 (GRCm39) |
L86Q |
probably damaging |
Het |
| Inpp5j |
A |
G |
11: 3,452,615 (GRCm39) |
S212P |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,359 (GRCm39) |
S234P |
possibly damaging |
Het |
| Lhx3 |
GTGTTGT |
GTGT |
2: 26,092,435 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,983 (GRCm39) |
S1028P |
possibly damaging |
Het |
| Met |
C |
A |
6: 17,553,403 (GRCm39) |
A1063E |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,494,151 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,610,552 (GRCm39) |
E1621G |
possibly damaging |
Het |
| Mug2 |
T |
C |
6: 122,052,214 (GRCm39) |
Y991H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
| Nkx6-3 |
T |
C |
8: 23,643,863 (GRCm39) |
V88A |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,635,262 (GRCm39) |
Q121R |
possibly damaging |
Het |
| Nup155 |
T |
C |
15: 8,186,225 (GRCm39) |
V1329A |
probably benign |
Het |
| Or2d36 |
T |
C |
7: 106,746,918 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,738 (GRCm39) |
V224A |
probably benign |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,751 (GRCm39) |
F514I |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
| Prl8a1 |
A |
T |
13: 27,758,126 (GRCm39) |
H194Q |
possibly damaging |
Het |
| Sh3tc1 |
C |
G |
5: 35,857,117 (GRCm39) |
E1241Q |
probably damaging |
Het |
| Slc6a6 |
A |
T |
6: 91,732,013 (GRCm39) |
H614L |
possibly damaging |
Het |
| Sort1 |
A |
G |
3: 108,217,527 (GRCm39) |
Y143C |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,141,360 (GRCm39) |
W569R |
probably null |
Het |
| Taco1 |
A |
T |
11: 105,962,693 (GRCm39) |
K127* |
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,638 (GRCm39) |
I223T |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,259,306 (GRCm39) |
I329T |
probably damaging |
Het |
| Tmprss11b |
T |
C |
5: 86,810,119 (GRCm39) |
H287R |
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,741 (GRCm39) |
L345P |
probably benign |
Het |
| Vmn1r62 |
G |
A |
7: 5,678,556 (GRCm39) |
C79Y |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,606,351 (GRCm39) |
K421R |
probably benign |
Het |
| Vwde |
C |
T |
6: 13,205,020 (GRCm39) |
S287N |
probably damaging |
Het |
| Xrcc4 |
A |
T |
13: 89,926,906 (GRCm39) |
M300K |
probably benign |
Het |
| Zan |
A |
T |
5: 137,427,747 (GRCm39) |
|
probably null |
Het |
| Zbtb7c |
A |
G |
18: 76,270,413 (GRCm39) |
D167G |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,249,881 (GRCm39) |
Y1165C |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 106,036,353 (GRCm39) |
L88Q |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,307,973 (GRCm39) |
T214A |
probably benign |
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 |
|
|
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 |
|
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'- AACAATTCTTCACAGTAAAGATGGAA -3'
(R):5'- CTGGTTGTCTGATCTCGTCC -3'
Sequencing Primer
(F):5'- TCTGGCCTACCTGAGAACATG -3'
(R):5'- GTCTGATCTCGTCCTTCTTCAAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation