Incidental Mutation 'R9450:Gria1'
| ID |
714201 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9450 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57200615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 764
(V764A)
|
| 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: V764A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: V764A
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| 2810004N23Rik |
T |
C |
8: 125,567,215 (GRCm39) |
K229E |
probably damaging |
Het |
| Abca8b |
T |
C |
11: 109,859,930 (GRCm39) |
T523A |
probably damaging |
Het |
| Adamts18 |
G |
T |
8: 114,490,942 (GRCm39) |
D508E |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,855,762 (GRCm39) |
E558G |
probably benign |
Het |
| Arid4a |
A |
T |
12: 71,119,374 (GRCm39) |
D331V |
|
Het |
| Ash1l |
A |
T |
3: 88,915,139 (GRCm39) |
K1923M |
possibly damaging |
Het |
| Atad2b |
T |
A |
12: 5,063,859 (GRCm39) |
S947T |
probably benign |
Het |
| B4galt1 |
A |
T |
4: 40,853,804 (GRCm39) |
M1K |
probably null |
Het |
| Ccpg1 |
G |
A |
9: 72,904,703 (GRCm39) |
S4N |
unknown |
Het |
| Cfap43 |
A |
T |
19: 47,886,310 (GRCm39) |
L102M |
probably benign |
Het |
| Clic6 |
T |
C |
16: 92,327,644 (GRCm39) |
I483T |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,661,373 (GRCm39) |
D245E |
probably benign |
Het |
| Cpsf7 |
G |
A |
19: 10,518,213 (GRCm39) |
|
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,091,354 (GRCm39) |
D721G |
probably benign |
Het |
| Dhx29 |
C |
T |
13: 113,083,862 (GRCm39) |
T639I |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,861,426 (GRCm39) |
E1397G |
unknown |
Het |
| Dsp |
C |
T |
13: 38,376,379 (GRCm39) |
T1388M |
probably damaging |
Het |
| Fam186b |
C |
T |
15: 99,183,425 (GRCm39) |
G73D |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,893,076 (GRCm39) |
D960G |
probably damaging |
Het |
| Grk3 |
T |
C |
5: 113,062,913 (GRCm39) |
K645E |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 53,878,188 (GRCm39) |
Y1339* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,316,845 (GRCm39) |
T3808N |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,355,055 (GRCm39) |
N129K |
possibly damaging |
Het |
| Iqca1l |
T |
A |
5: 24,754,447 (GRCm39) |
I395F |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,874,097 (GRCm39) |
Y340H |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,458,372 (GRCm39) |
I460M |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,242,739 (GRCm39) |
I599T |
possibly damaging |
Het |
| Kif1b |
A |
C |
4: 149,322,467 (GRCm39) |
D817E |
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,357,760 (GRCm39) |
C94* |
probably null |
Het |
| Larp1 |
T |
C |
11: 57,941,890 (GRCm39) |
S743P |
probably damaging |
Het |
| Ldlrap1 |
T |
C |
4: 134,474,490 (GRCm39) |
N267S |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,851,064 (GRCm39) |
L92P |
probably damaging |
Het |
| Ly6g2 |
T |
A |
15: 75,092,574 (GRCm39) |
C98S |
probably damaging |
Het |
| Mns1 |
C |
A |
9: 72,359,890 (GRCm39) |
Q347K |
probably benign |
Het |
| Myof |
A |
T |
19: 37,949,374 (GRCm39) |
F611I |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,117,601 (GRCm39) |
L76P |
probably damaging |
Het |
| Nphp1 |
T |
C |
2: 127,616,008 (GRCm39) |
H114R |
|
Het |
| Or10g3 |
G |
C |
14: 52,610,110 (GRCm39) |
Y133* |
probably null |
Het |
| Or1e30 |
C |
A |
11: 73,678,101 (GRCm39) |
N112K |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,398 (GRCm39) |
N191K |
probably benign |
Het |
| Pcdha12 |
A |
G |
18: 37,153,992 (GRCm39) |
D237G |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
A |
T |
11: 71,952,412 (GRCm39) |
M593K |
possibly damaging |
Het |
| Plxdc1 |
C |
T |
11: 97,845,681 (GRCm39) |
V211I |
probably damaging |
Het |
| Prkn |
C |
A |
17: 12,057,521 (GRCm39) |
H301N |
possibly damaging |
Het |
| Prpf38a |
A |
T |
4: 108,430,072 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,697,105 (GRCm39) |
T1769A |
probably benign |
Het |
| Spata31f1e |
G |
T |
4: 42,793,833 (GRCm39) |
Q100K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,884,896 (GRCm39) |
D153G |
possibly damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,637 (GRCm39) |
M713K |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,894,434 (GRCm39) |
K966E |
possibly damaging |
Het |
| Vars2 |
T |
C |
17: 35,973,027 (GRCm39) |
T421A |
probably damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,984,770 (GRCm39) |
C298* |
probably null |
Het |
| Vps35l |
T |
C |
7: 118,352,118 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
T |
C |
7: 120,403,253 (GRCm39) |
|
probably null |
Het |
| Vwa5b1 |
G |
T |
4: 138,315,940 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Zbtb46 |
T |
C |
2: 181,037,281 (GRCm39) |
K454E |
probably damaging |
Het |
| Zfp426 |
T |
C |
9: 20,381,577 (GRCm39) |
H470R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATGACTATCCAGACTAGGGAC -3'
(R):5'- TGCATTGGGAGAACCGTTGC -3'
Sequencing Primer
(F):5'- CCATCCACTAATATCTGACATGGG -3'
(R):5'- AGAACCGTTGCTGGTTACC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation