Incidental Mutation 'R2507:Gria1'
| ID |
251376 |
| 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 |
040413-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2507 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57180146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 699
(T699S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
| AlphaFold |
P23818 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036315
AA Change: T699S
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: T699S
| 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 null
Transcript: ENSMUST00000094179
AA Change: T699S
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: T699S
| 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 null
Transcript: ENSMUST00000151045
AA Change: T630S
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: T630S
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
A |
G |
10: 21,497,681 (GRCm39) |
|
probably benign |
Het |
| 4930535I16Rik |
G |
A |
4: 123,811,740 (GRCm39) |
|
probably benign |
Het |
| Akr1b1 |
C |
T |
6: 34,286,999 (GRCm39) |
E186K |
probably damaging |
Het |
| Apc |
A |
T |
18: 34,449,590 (GRCm39) |
N2128I |
possibly damaging |
Het |
| Api5 |
T |
C |
2: 94,260,162 (GRCm39) |
I31M |
probably damaging |
Het |
| Armcx4 |
T |
G |
X: 133,596,128 (GRCm39) |
V2012G |
possibly damaging |
Het |
| Aurka |
T |
C |
2: 172,212,365 (GRCm39) |
E4G |
probably benign |
Het |
| B4galt5 |
T |
A |
2: 167,148,558 (GRCm39) |
M187L |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,993,313 (GRCm39) |
D813G |
probably damaging |
Het |
| Bub1 |
A |
T |
2: 127,643,343 (GRCm39) |
D1000E |
probably benign |
Het |
| Cacna1f |
T |
G |
X: 7,492,687 (GRCm39) |
|
probably null |
Het |
| Cdh6 |
A |
G |
15: 13,041,447 (GRCm39) |
I539T |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,088,914 (GRCm39) |
D756G |
probably benign |
Het |
| Cenph |
A |
T |
13: 100,907,744 (GRCm39) |
D85E |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Clec2h |
A |
G |
6: 128,650,945 (GRCm39) |
N75S |
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,400,029 (GRCm39) |
V51E |
possibly damaging |
Het |
| Cpne3 |
A |
T |
4: 19,553,871 (GRCm39) |
N53K |
probably damaging |
Het |
| Cpt1b |
A |
G |
15: 89,303,301 (GRCm39) |
F585L |
probably benign |
Het |
| Daam1 |
G |
A |
12: 72,021,997 (GRCm39) |
D732N |
probably damaging |
Het |
| Dner |
A |
T |
1: 84,560,801 (GRCm39) |
C115S |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,395,170 (GRCm39) |
F759Y |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,050,990 (GRCm39) |
Y29H |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,227,498 (GRCm39) |
V1875A |
possibly damaging |
Het |
| Duox1 |
A |
G |
2: 122,163,619 (GRCm39) |
D817G |
probably benign |
Het |
| Emc2 |
A |
T |
15: 43,375,094 (GRCm39) |
|
probably null |
Het |
| Erich3 |
A |
T |
3: 154,404,296 (GRCm39) |
E51V |
probably null |
Het |
| Exoc2 |
A |
G |
13: 31,066,348 (GRCm39) |
Y443H |
possibly damaging |
Het |
| Fbf1 |
T |
C |
11: 116,046,252 (GRCm39) |
R200G |
probably benign |
Het |
| Fdxr |
G |
A |
11: 115,162,806 (GRCm39) |
T100I |
probably damaging |
Het |
| Galnt11 |
C |
G |
5: 25,452,610 (GRCm39) |
P41A |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,148 (GRCm39) |
K291R |
possibly damaging |
Het |
| Gm12695 |
T |
A |
4: 96,642,426 (GRCm39) |
E301V |
probably damaging |
Het |
| Gopc |
C |
T |
10: 52,229,422 (GRCm39) |
|
probably null |
Het |
| Gsr |
T |
G |
8: 34,170,316 (GRCm39) |
D200E |
probably benign |
Het |
| Ikzf2 |
G |
A |
1: 69,578,447 (GRCm39) |
A282V |
probably benign |
Het |
| Irak2 |
T |
C |
6: 113,624,639 (GRCm39) |
I45T |
probably damaging |
Het |
| Irx1 |
T |
C |
13: 72,107,939 (GRCm39) |
K248E |
probably damaging |
Het |
| Kcns3 |
A |
C |
12: 11,142,087 (GRCm39) |
V204G |
possibly damaging |
Het |
| Lmo1 |
C |
A |
7: 108,739,848 (GRCm39) |
M91I |
probably damaging |
Het |
| Map3k21 |
A |
G |
8: 126,666,677 (GRCm39) |
D623G |
possibly damaging |
Het |
| Map4 |
A |
G |
9: 109,866,551 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,593,676 (GRCm39) |
V236E |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,786,711 (GRCm39) |
D939G |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,242 (GRCm39) |
C142R |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,947,404 (GRCm39) |
D11E |
probably benign |
Het |
| Ntng2 |
T |
C |
2: 29,097,531 (GRCm39) |
N310S |
probably damaging |
Het |
| Or10ak7 |
T |
C |
4: 118,791,122 (GRCm39) |
M308V |
probably benign |
Het |
| Or6b3 |
A |
G |
1: 92,439,100 (GRCm39) |
S217P |
probably damaging |
Het |
| Pcolce |
A |
G |
5: 137,605,313 (GRCm39) |
V260A |
possibly damaging |
Het |
| Pds5b |
C |
A |
5: 150,679,893 (GRCm39) |
T533K |
possibly damaging |
Het |
| Pecr |
A |
G |
1: 72,301,135 (GRCm39) |
Y268H |
probably benign |
Het |
| Phax |
T |
A |
18: 56,719,956 (GRCm39) |
F299Y |
probably damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Pramel32 |
T |
A |
4: 88,547,448 (GRCm39) |
K161N |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,104,589 (GRCm39) |
F551L |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ralgapa1 |
G |
A |
12: 55,764,986 (GRCm39) |
P889S |
probably damaging |
Het |
| Rpap1 |
A |
G |
2: 119,610,535 (GRCm39) |
|
probably null |
Het |
| Rufy3 |
T |
C |
5: 88,797,757 (GRCm39) |
S645P |
probably damaging |
Het |
| Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
| Spata7 |
G |
T |
12: 98,624,709 (GRCm39) |
A172S |
probably benign |
Het |
| Stk35 |
A |
G |
2: 129,643,435 (GRCm39) |
T140A |
probably damaging |
Het |
| Thop1 |
T |
G |
10: 80,906,098 (GRCm39) |
M1R |
probably null |
Het |
| Tlr1 |
T |
C |
5: 65,082,639 (GRCm39) |
Y646C |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,040,609 (GRCm39) |
Y290C |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,268,695 (GRCm39) |
M1V |
probably null |
Het |
| Trim6 |
T |
C |
7: 103,877,392 (GRCm39) |
F161L |
probably damaging |
Het |
| Ubash3b |
T |
C |
9: 41,068,650 (GRCm39) |
K25E |
possibly damaging |
Het |
| Unc45b |
G |
A |
11: 82,830,963 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
G |
1: 66,651,266 (GRCm39) |
N1537S |
possibly damaging |
Het |
| Usb1 |
T |
C |
8: 96,069,752 (GRCm39) |
F100S |
probably damaging |
Het |
| Vmn1r17 |
C |
A |
6: 57,338,244 (GRCm39) |
L40F |
probably damaging |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,110 (GRCm39) |
M280K |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,493 (GRCm39) |
C524S |
probably damaging |
Het |
| Zfp426 |
T |
C |
9: 20,381,727 (GRCm39) |
K420R |
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 |
|
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'- TGATCAAGCTCCACTCAGC -3'
(R):5'- AAATGCAGCAGCTTCGGTCC -3'
Sequencing Primer
(F):5'- AGCTCTTCCCTGATGCGTGTG -3'
(R):5'- GAAGCAGATCTGGGTACTTACCTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation