Incidental Mutation 'R8478:Gria1'
| ID |
657392 |
| 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 |
067922-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8478 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57200668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 782
(Y782H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
| AlphaFold |
P23818 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036315
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
| 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: Y782H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: Y782H
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
T |
9: 107,805,844 (GRCm39) |
I56F |
possibly damaging |
Het |
| Adgrl3 |
G |
T |
5: 81,942,348 (GRCm39) |
R1357L |
possibly damaging |
Het |
| Alpk1 |
T |
A |
3: 127,522,961 (GRCm39) |
D27V |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,175 (GRCm39) |
E986G |
probably damaging |
Het |
| Ankle2 |
T |
A |
5: 110,400,818 (GRCm39) |
L717Q |
possibly damaging |
Het |
| Arl8b |
A |
G |
6: 108,760,285 (GRCm39) |
T24A |
possibly damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,047,502 (GRCm39) |
I718T |
probably damaging |
Het |
| Atp6v0e2 |
T |
A |
6: 48,517,031 (GRCm39) |
N70K |
probably benign |
Het |
| Bcl11a |
A |
G |
11: 24,115,086 (GRCm39) |
S810G |
probably damaging |
Het |
| Bcl2a1d |
T |
G |
9: 88,605,488 (GRCm39) |
*173S |
probably null |
Het |
| Bltp1 |
A |
T |
3: 37,087,426 (GRCm39) |
D511V |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,317,278 (GRCm39) |
Y1494H |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,487,850 (GRCm39) |
K186E |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,764,515 (GRCm39) |
I817V |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,441,147 (GRCm39) |
R196* |
probably null |
Het |
| Chsy1 |
C |
T |
7: 65,820,748 (GRCm39) |
H328Y |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,372,522 (GRCm39) |
S713T |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,708,400 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,332,001 (GRCm39) |
N86S |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,593,444 (GRCm39) |
T215A |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,987,944 (GRCm39) |
|
probably null |
Het |
| Fosl1 |
T |
C |
19: 5,504,947 (GRCm39) |
S145P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,187 (GRCm39) |
V160E |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,771,505 (GRCm39) |
K177* |
probably null |
Het |
| Gria4 |
C |
T |
9: 4,793,882 (GRCm39) |
E59K |
probably damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,575,919 (GRCm39) |
Y99H |
possibly damaging |
Het |
| Insm2 |
A |
T |
12: 55,647,330 (GRCm39) |
Y358F |
probably damaging |
Het |
| Marveld3 |
C |
T |
8: 110,688,600 (GRCm39) |
G47D |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 4,098,064 (GRCm39) |
D967G |
probably damaging |
Het |
| Nav2 |
G |
T |
7: 49,111,733 (GRCm39) |
M746I |
probably damaging |
Het |
| Niban1 |
C |
A |
1: 151,512,263 (GRCm39) |
T55K |
possibly damaging |
Het |
| Nmnat1 |
A |
G |
4: 149,557,841 (GRCm39) |
I67T |
possibly damaging |
Het |
| Nub1 |
G |
T |
5: 24,906,422 (GRCm39) |
R316L |
probably benign |
Het |
| Nxn |
A |
G |
11: 76,164,869 (GRCm39) |
V214A |
probably damaging |
Het |
| Or52n5 |
C |
A |
7: 104,588,477 (GRCm39) |
S248Y |
probably benign |
Het |
| Pelp1 |
A |
T |
11: 70,285,146 (GRCm39) |
D907E |
unknown |
Het |
| Pik3c2a |
A |
T |
7: 116,017,584 (GRCm39) |
S58T |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,505,997 (GRCm39) |
N703S |
probably benign |
Het |
| Polr3c |
G |
A |
3: 96,624,066 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
C |
T |
6: 5,185,318 (GRCm39) |
G61R |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,759,287 (GRCm39) |
M1K |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,466,788 (GRCm39) |
C90S |
probably benign |
Het |
| Prokr1 |
A |
G |
6: 87,558,330 (GRCm39) |
Y352H |
probably benign |
Het |
| Rhod |
C |
T |
19: 4,476,719 (GRCm39) |
R134H |
probably damaging |
Het |
| Rufy3 |
C |
T |
5: 88,762,895 (GRCm39) |
R110W |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,590,871 (GRCm39) |
M460K |
probably benign |
Het |
| Slc46a3 |
T |
C |
5: 147,815,963 (GRCm39) |
S455G |
probably benign |
Het |
| Smyd1 |
A |
T |
6: 71,193,811 (GRCm39) |
H371Q |
probably damaging |
Het |
| Steap1 |
A |
G |
5: 5,786,432 (GRCm39) |
M335T |
probably benign |
Het |
| Suox |
A |
G |
10: 128,506,921 (GRCm39) |
V369A |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,900,666 (GRCm39) |
I514V |
probably benign |
Het |
| Tie1 |
A |
T |
4: 118,341,979 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
T |
C |
3: 83,805,769 (GRCm39) |
E1558G |
probably damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,698,386 (GRCm39) |
H45Q |
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,870,857 (GRCm39) |
S327P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,175,429 (GRCm39) |
V1176M |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,524,892 (GRCm39) |
M2197T |
probably benign |
Het |
| Vmn1r50 |
G |
T |
6: 90,085,071 (GRCm39) |
C272F |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,143,636 (GRCm39) |
N771K |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,257 (GRCm39) |
F691I |
possibly damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,340,281 (GRCm39) |
Q64R |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,672,544 (GRCm39) |
L760F |
probably damaging |
Het |
| Wdr97 |
T |
C |
15: 76,247,629 (GRCm39) |
|
probably null |
Het |
| Xdh |
C |
A |
17: 74,213,053 (GRCm39) |
E863D |
probably benign |
Het |
| Ykt6 |
A |
G |
11: 5,912,407 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Zranb2 |
A |
G |
3: 157,251,745 (GRCm39) |
*321W |
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 |
|
|
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 |
|
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'- GGAATATCCCACAGGTCAAGGG -3'
(R):5'- CAGTTGGGTGCTACTTCTACC -3'
Sequencing Primer
(F):5'- CTTGCTGAGTGTTCTCCA -3'
(R):5'- GGGTGCTACTTCTACCCATTCTAGAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation