Incidental Mutation 'R0387:Gria1'
| ID |
31361 |
| 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 |
038593-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0387 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 57200710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000094179]
[ENSMUST00000094179]
[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 null
Transcript: ENSMUST00000094179
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
| 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: ENSMUST00000094179
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
| 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: ENSMUST00000094179
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
| 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: ENSMUST00000094179
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
| 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 |
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 85.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 119,932,075 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
T |
A |
6: 142,585,230 (GRCm39) |
K825* |
probably null |
Het |
| Afp |
T |
C |
5: 90,645,150 (GRCm39) |
C189R |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,001,678 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
A |
T |
7: 80,753,975 (GRCm39) |
T1652S |
possibly damaging |
Het |
| Atg4b |
C |
A |
1: 93,714,278 (GRCm39) |
Q354K |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,940,206 (GRCm39) |
S388P |
possibly damaging |
Het |
| C2cd3 |
T |
A |
7: 100,071,714 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
C |
A |
9: 107,391,080 (GRCm39) |
T403K |
probably damaging |
Het |
| Cap2 |
C |
T |
13: 46,713,992 (GRCm39) |
H79Y |
probably damaging |
Het |
| Car10 |
G |
T |
11: 93,473,847 (GRCm39) |
|
probably null |
Het |
| Ccno |
T |
C |
13: 113,126,401 (GRCm39) |
L290P |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,639,303 (GRCm39) |
K624E |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,421,909 (GRCm39) |
M568V |
probably benign |
Het |
| Cyp1b1 |
C |
A |
17: 80,021,203 (GRCm39) |
V180L |
probably benign |
Het |
| Cyp2u1 |
G |
T |
3: 131,089,201 (GRCm39) |
|
probably null |
Het |
| Dcp1a |
T |
C |
14: 30,241,636 (GRCm39) |
|
probably null |
Het |
| Dnm1 |
C |
T |
2: 32,210,593 (GRCm39) |
G1S |
possibly damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,829,509 (GRCm39) |
L698P |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,517,993 (GRCm39) |
C1327F |
probably damaging |
Het |
| Dph3b-ps |
A |
G |
13: 106,683,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dpyd |
G |
A |
3: 119,220,875 (GRCm39) |
D949N |
probably benign |
Het |
| Dync2li1 |
A |
G |
17: 84,962,768 (GRCm39) |
K345E |
possibly damaging |
Het |
| Eml2 |
T |
A |
7: 18,916,184 (GRCm39) |
|
probably null |
Het |
| Exoc7 |
A |
G |
11: 116,185,227 (GRCm39) |
|
probably benign |
Het |
| Faah |
A |
T |
4: 115,862,889 (GRCm39) |
C113* |
probably null |
Het |
| Fcf1 |
T |
A |
12: 85,019,776 (GRCm39) |
D16E |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,790,879 (GRCm39) |
|
probably benign |
Het |
| Ghr |
A |
G |
15: 3,349,373 (GRCm39) |
S602P |
probably benign |
Het |
| Gm5114 |
T |
C |
7: 39,058,233 (GRCm39) |
D462G |
probably benign |
Het |
| Gm8186 |
T |
A |
17: 26,318,000 (GRCm39) |
S66C |
probably damaging |
Het |
| Gorab |
C |
T |
1: 163,224,403 (GRCm39) |
V133M |
probably benign |
Het |
| Grik1 |
T |
A |
16: 87,831,238 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,280,276 (GRCm39) |
L378P |
probably damaging |
Het |
| Htr5b |
A |
T |
1: 121,455,275 (GRCm39) |
V215D |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,581,208 (GRCm39) |
T319A |
probably damaging |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Klrb1a |
A |
C |
6: 128,586,697 (GRCm39) |
H189Q |
possibly damaging |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,749 (GRCm39) |
T8A |
probably benign |
Het |
| Ly75 |
T |
A |
2: 60,136,748 (GRCm39) |
Y1493F |
probably benign |
Het |
| Mfsd5 |
T |
C |
15: 102,189,531 (GRCm39) |
I301T |
possibly damaging |
Het |
| Mlkl |
C |
T |
8: 112,059,982 (GRCm39) |
E135K |
probably damaging |
Het |
| Mrgprx2 |
A |
C |
7: 48,148,908 (GRCm39) |
M1R |
probably null |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,474,425 (GRCm39) |
I280V |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,192,303 (GRCm39) |
|
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,572,583 (GRCm39) |
K174R |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,883,737 (GRCm39) |
|
probably benign |
Het |
| Or8b40 |
T |
A |
9: 38,027,066 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
G |
C |
3: 94,892,051 (GRCm39) |
E256Q |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,972,979 (GRCm39) |
I739F |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,262,945 (GRCm39) |
K1031N |
probably benign |
Het |
| Plk4 |
A |
T |
3: 40,767,319 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
C |
16: 36,849,792 (GRCm39) |
C349R |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,909,679 (GRCm39) |
E2354D |
probably damaging |
Het |
| Prss22 |
A |
G |
17: 24,212,903 (GRCm39) |
L278P |
probably damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,303 (GRCm39) |
I141T |
possibly damaging |
Het |
| Ptprk |
G |
A |
10: 28,230,625 (GRCm39) |
V239I |
possibly damaging |
Het |
| Raph1 |
T |
G |
1: 60,549,655 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
C |
T |
2: 167,825,692 (GRCm39) |
W755* |
probably null |
Het |
| Rnd3 |
G |
T |
2: 51,038,243 (GRCm39) |
D77E |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,782,792 (GRCm39) |
|
probably benign |
Het |
| Serpinb1a |
C |
T |
13: 33,032,721 (GRCm39) |
V63I |
probably benign |
Het |
| Six1 |
T |
G |
12: 73,092,815 (GRCm39) |
Y129S |
probably damaging |
Het |
| Spata31d1a |
G |
A |
13: 59,851,315 (GRCm39) |
T271I |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,870,058 (GRCm39) |
D1387G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,060,466 (GRCm39) |
M625K |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,301,029 (GRCm39) |
S900G |
probably benign |
Het |
| Tdpoz4 |
A |
C |
3: 93,704,007 (GRCm39) |
K101N |
probably benign |
Het |
| Tigd2 |
T |
C |
6: 59,188,143 (GRCm39) |
Y337H |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,902,548 (GRCm39) |
I1134V |
probably benign |
Het |
| Tspyl5 |
A |
G |
15: 33,687,081 (GRCm39) |
I288T |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,936,663 (GRCm39) |
V61A |
possibly damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,776,194 (GRCm39) |
Y381H |
probably benign |
Het |
| Zcchc9 |
T |
A |
13: 91,949,066 (GRCm39) |
M12L |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,358,953 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
T |
A |
7: 29,634,179 (GRCm39) |
T510S |
probably benign |
Het |
| Zfp808 |
A |
G |
13: 62,317,292 (GRCm39) |
T14A |
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 |
|
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 |
|
R9450:Gria1
|
UTSW |
11 |
57,200,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACATGACTTGCTGAGTGTTCTCC -3'
(R):5'- TGACCCGCCTTGCAGCATTATC -3'
Sequencing Primer
(F):5'- GCTGAGTGTTCTCCACTTGTTAC -3'
(R):5'- GCCTTGCAGCATTATCTCAGAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation