Incidental Mutation 'R6180:Gria1'
| ID |
488014 |
| 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 |
044322-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6180 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57133618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 499
(R499L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
| AlphaFold |
P23818 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036315
AA Change: R499L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: R499L
| 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: R499L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: R499L
| 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 damaging
Transcript: ENSMUST00000151045
AA Change: R430L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: R430L
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
G |
8: 41,279,610 (GRCm39) |
N667S |
probably benign |
Het |
| Ap4e1 |
T |
A |
2: 126,908,508 (GRCm39) |
C1085* |
probably null |
Het |
| BC035044 |
A |
T |
6: 128,861,997 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,164,084 (GRCm39) |
M1142V |
possibly damaging |
Het |
| Capn11 |
T |
C |
17: 45,941,692 (GRCm39) |
D693G |
probably damaging |
Het |
| Cavin4 |
A |
T |
4: 48,663,917 (GRCm39) |
H99L |
possibly damaging |
Het |
| Ccdc86 |
T |
C |
19: 10,925,945 (GRCm39) |
K218R |
possibly damaging |
Het |
| Ccno |
T |
C |
13: 113,126,379 (GRCm39) |
S283P |
probably damaging |
Het |
| Ccser2 |
A |
T |
14: 36,662,276 (GRCm39) |
S303T |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,674,680 (GRCm39) |
N129I |
probably damaging |
Het |
| Cd63 |
G |
A |
10: 128,747,933 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
| Daam2 |
A |
G |
17: 49,776,694 (GRCm39) |
M797T |
probably damaging |
Het |
| Dennd2b |
A |
C |
7: 109,156,095 (GRCm39) |
D218E |
probably benign |
Het |
| Dmgdh |
G |
A |
13: 93,888,794 (GRCm39) |
V811I |
possibly damaging |
Het |
| Dpysl4 |
A |
T |
7: 138,670,250 (GRCm39) |
T123S |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,814,345 (GRCm39) |
E428G |
possibly damaging |
Het |
| Fam124b |
T |
A |
1: 80,177,902 (GRCm39) |
T366S |
possibly damaging |
Het |
| Fbxw22 |
T |
C |
9: 109,215,747 (GRCm39) |
D167G |
probably damaging |
Het |
| Flrt2 |
C |
T |
12: 95,746,012 (GRCm39) |
Q117* |
probably null |
Het |
| Ftsj3 |
A |
T |
11: 106,144,166 (GRCm39) |
|
probably null |
Het |
| Ggn |
A |
G |
7: 28,872,474 (GRCm39) |
Y618C |
probably damaging |
Het |
| Glis1 |
T |
A |
4: 107,484,710 (GRCm39) |
S402T |
probably benign |
Het |
| Gm4781 |
T |
A |
10: 100,232,349 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7168 |
T |
A |
17: 14,168,858 (GRCm39) |
I75K |
probably damaging |
Het |
| Gm7298 |
C |
T |
6: 121,737,782 (GRCm39) |
H348Y |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,245,389 (GRCm39) |
T549M |
probably damaging |
Het |
| H2-M10.6 |
T |
A |
17: 37,125,178 (GRCm39) |
V323E |
probably damaging |
Het |
| Hoxb3 |
G |
A |
11: 96,236,929 (GRCm39) |
V336I |
probably benign |
Het |
| Il12b |
G |
A |
11: 44,303,453 (GRCm39) |
A327T |
probably benign |
Het |
| Inpp4a |
C |
A |
1: 37,419,183 (GRCm39) |
P588T |
probably benign |
Het |
| Kctd12 |
C |
A |
14: 103,219,027 (GRCm39) |
D284Y |
probably damaging |
Het |
| Kif28 |
C |
A |
1: 179,525,337 (GRCm39) |
|
probably null |
Het |
| Krt1c |
T |
C |
15: 101,723,479 (GRCm39) |
N332S |
probably benign |
Het |
| Lama2 |
G |
A |
10: 26,857,495 (GRCm39) |
T3118I |
probably benign |
Het |
| Lgi1 |
T |
C |
19: 38,253,404 (GRCm39) |
L25P |
probably damaging |
Het |
| Lhx3 |
T |
A |
2: 26,091,503 (GRCm39) |
M269L |
probably benign |
Het |
| Lmtk2 |
A |
T |
5: 144,112,160 (GRCm39) |
E960V |
probably damaging |
Het |
| Loxl4 |
A |
T |
19: 42,596,791 (GRCm39) |
D60E |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,333,868 (GRCm39) |
N1458Y |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,224,677 (GRCm39) |
S16T |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,569,362 (GRCm39) |
A875T |
possibly damaging |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,574 (GRCm39) |
I118N |
probably damaging |
Het |
| Mrps7 |
A |
G |
11: 115,495,707 (GRCm39) |
T82A |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,056,565 (GRCm39) |
E1170G |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,107,915 (GRCm39) |
H647R |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,454,215 (GRCm39) |
Y2710C |
probably damaging |
Het |
| Ndc1 |
A |
T |
4: 107,268,395 (GRCm39) |
I644L |
possibly damaging |
Het |
| Or4c108 |
T |
G |
2: 88,804,226 (GRCm39) |
N3T |
probably damaging |
Het |
| Or8g33 |
A |
T |
9: 39,338,008 (GRCm39) |
Y120N |
probably damaging |
Het |
| Padi4 |
A |
G |
4: 140,483,784 (GRCm39) |
M352T |
possibly damaging |
Het |
| Pals1 |
C |
T |
12: 78,864,084 (GRCm39) |
H216Y |
probably benign |
Het |
| Pcdhgc3 |
C |
A |
18: 37,939,990 (GRCm39) |
D130E |
probably damaging |
Het |
| Pde6a |
A |
T |
18: 61,417,163 (GRCm39) |
|
probably null |
Het |
| Pdpn |
C |
T |
4: 143,025,792 (GRCm39) |
G12R |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,771,620 (GRCm39) |
D200E |
probably benign |
Het |
| Ppa1 |
A |
T |
10: 61,503,431 (GRCm39) |
D236V |
probably benign |
Het |
| Ptprn2 |
T |
A |
12: 116,822,739 (GRCm39) |
S273T |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,165,609 (GRCm39) |
E297G |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,394,923 (GRCm39) |
N750S |
probably damaging |
Het |
| Rinl |
A |
G |
7: 28,496,365 (GRCm39) |
N449D |
probably benign |
Het |
| Samd8 |
T |
A |
14: 21,825,093 (GRCm39) |
H79Q |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,583,933 (GRCm39) |
I1561V |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,400,938 (GRCm39) |
L105P |
probably benign |
Het |
| Slc7a12 |
A |
T |
3: 14,546,200 (GRCm39) |
|
probably null |
Het |
| Slco1a4 |
A |
G |
6: 141,763,546 (GRCm39) |
I390T |
possibly damaging |
Het |
| Snta1 |
T |
C |
2: 154,219,102 (GRCm39) |
N411S |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,277,279 (GRCm39) |
T323A |
probably benign |
Het |
| Ssh2 |
G |
T |
11: 77,344,291 (GRCm39) |
V759L |
probably benign |
Het |
| Swap70 |
G |
T |
7: 109,869,188 (GRCm39) |
R327L |
probably damaging |
Het |
| Tbc1d4 |
C |
A |
14: 101,696,206 (GRCm39) |
C914F |
probably benign |
Het |
| Tbx3 |
A |
G |
5: 119,812,132 (GRCm39) |
D144G |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
| Tmem94 |
A |
T |
11: 115,681,857 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
A |
16: 44,041,468 (GRCm39) |
F1983I |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,132,068 (GRCm39) |
C763* |
probably null |
Het |
| Vmn1r115 |
A |
C |
7: 20,578,640 (GRCm39) |
L91V |
probably damaging |
Het |
| Vmn1r201 |
A |
T |
13: 22,659,499 (GRCm39) |
I238F |
possibly damaging |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,476 (GRCm39) |
S106R |
probably damaging |
Het |
| Vmn1r82 |
T |
C |
7: 12,039,012 (GRCm39) |
V95A |
probably damaging |
Het |
| Vrk3 |
A |
T |
7: 44,419,035 (GRCm39) |
N371I |
possibly damaging |
Het |
| Wnt8b |
C |
A |
19: 44,500,082 (GRCm39) |
A223E |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,335,921 (GRCm39) |
|
probably null |
Het |
| Xpo7 |
T |
C |
14: 70,920,243 (GRCm39) |
N642S |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,975,953 (GRCm39) |
R520H |
possibly damaging |
Het |
| Zfp367 |
T |
C |
13: 64,283,204 (GRCm39) |
E316G |
probably damaging |
Het |
| Zfp488 |
T |
A |
14: 33,692,751 (GRCm39) |
R137S |
possibly damaging |
Het |
| Zfp532 |
G |
T |
18: 65,789,542 (GRCm39) |
V994L |
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 |
|
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'- ATACCGTTTCCACATCCTTATGGTA -3'
(R):5'- AAGAGGACGACGCTCACT -3'
Sequencing Primer
(F):5'- TATAGTGCACGCCTGGAATC -3'
(R):5'- GACGCTCACTCCAATGTAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation