Incidental Mutation 'R9243:Gria1'
| ID |
701101 |
| 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 # |
R9243 (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 57128888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 454
(Y454C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
| AlphaFold |
P23818 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036315
AA Change: Y454C
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: Y454C
| 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 benign
Transcript: ENSMUST00000094179
AA Change: Y454C
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: Y454C
| 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
AA Change: Y385C
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: Y385C
| 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 |
96% (51/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 53,188,035 (GRCm39) |
S1816R |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,649,710 (GRCm39) |
F605L |
possibly damaging |
Het |
| Cacna1g |
T |
A |
11: 94,347,893 (GRCm39) |
I732F |
possibly damaging |
Het |
| Capg |
T |
A |
6: 72,538,070 (GRCm39) |
S319T |
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,771,333 (GRCm39) |
F38L |
probably benign |
Het |
| Cep295 |
T |
A |
9: 15,243,605 (GRCm39) |
N1617I |
probably benign |
Het |
| Cep57 |
C |
T |
9: 13,738,204 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,195,265 (GRCm39) |
|
probably benign |
Het |
| Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,857,871 (GRCm39) |
V1481A |
unknown |
Het |
| Exoc2 |
T |
C |
13: 31,109,778 (GRCm39) |
K197E |
probably benign |
Het |
| Fancg |
C |
T |
4: 43,006,565 (GRCm39) |
V330I |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gad2 |
A |
G |
2: 22,525,053 (GRCm39) |
E279G |
possibly damaging |
Het |
| Grik3 |
C |
T |
4: 125,601,690 (GRCm39) |
R856C |
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,900,511 (GRCm39) |
R622I |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,900,512 (GRCm39) |
R622G |
probably benign |
Het |
| Htt |
T |
C |
5: 35,056,276 (GRCm39) |
|
probably benign |
Het |
| Idh1 |
A |
G |
1: 65,207,656 (GRCm39) |
|
probably null |
Het |
| Igf1r |
A |
G |
7: 67,861,775 (GRCm39) |
S1112G |
probably benign |
Het |
| Impg2 |
A |
T |
16: 56,051,823 (GRCm39) |
S242C |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,433,587 (GRCm39) |
S34T |
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,205,542 (GRCm39) |
I546V |
probably damaging |
Het |
| Klrd1 |
T |
G |
6: 129,568,795 (GRCm39) |
M1R |
probably null |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,644 (GRCm39) |
C253* |
probably null |
Het |
| Mapk7 |
A |
G |
11: 61,384,535 (GRCm39) |
I57T |
possibly damaging |
Het |
| Msrb2 |
A |
G |
2: 19,388,073 (GRCm39) |
N74D |
probably benign |
Het |
| Myd88 |
A |
T |
9: 119,168,773 (GRCm39) |
S85T |
probably benign |
Het |
| Myo1c |
G |
T |
11: 75,541,437 (GRCm39) |
|
probably benign |
Het |
| Nnt |
T |
A |
13: 119,494,060 (GRCm39) |
N674Y |
unknown |
Het |
| Nrcam |
A |
G |
12: 44,620,607 (GRCm39) |
Y878C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,023,392 (GRCm39) |
T662A |
probably benign |
Het |
| Or14j4 |
T |
C |
17: 37,921,408 (GRCm39) |
Q78R |
probably benign |
Het |
| Or4l15 |
A |
G |
14: 50,197,881 (GRCm39) |
V216A |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,209,782 (GRCm39) |
S33G |
probably benign |
Het |
| Or8k40 |
A |
G |
2: 86,584,282 (GRCm39) |
S267P |
possibly damaging |
Het |
| Pappa2 |
C |
A |
1: 158,763,763 (GRCm39) |
V583L |
probably damaging |
Het |
| Parp1 |
T |
G |
1: 180,415,680 (GRCm39) |
S500A |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,989 (GRCm39) |
D593G |
probably damaging |
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Prrc1 |
C |
G |
18: 57,496,271 (GRCm39) |
S74W |
possibly damaging |
Het |
| Rag2 |
G |
A |
2: 101,460,419 (GRCm39) |
G243D |
probably damaging |
Het |
| Sgpp1 |
T |
C |
12: 75,781,961 (GRCm39) |
E126G |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,198 (GRCm39) |
T496M |
probably benign |
Het |
| Slc17a1 |
C |
A |
13: 24,064,432 (GRCm39) |
F329L |
probably benign |
Het |
| Slc52a3 |
G |
A |
2: 151,846,512 (GRCm39) |
V158I |
probably benign |
Het |
| Slf1 |
T |
A |
13: 77,273,575 (GRCm39) |
T75S |
possibly damaging |
Het |
| Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
| Tmem125 |
A |
T |
4: 118,399,089 (GRCm39) |
V114E |
probably damaging |
Het |
| Ube2f |
A |
T |
1: 91,181,980 (GRCm39) |
|
probably benign |
Het |
| Zdhhc19 |
T |
A |
16: 32,315,992 (GRCm39) |
F30I |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,662,050 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,009,595 (GRCm39) |
Y520* |
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,133,920 (GRCm39) |
D326G |
probably damaging |
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 |
|
R9450:Gria1
|
UTSW |
11 |
57,200,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACATTGGACGCATATGCC -3'
(R):5'- TTTATGCACAGAGCCATCCAG -3'
Sequencing Primer
(F):5'- CATTGGACGCATATGCCTCTGG -3'
(R):5'- GCCATCCAGCTATGAAATGATTTCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation