Incidental Mutation 'R7691:Gria1'
| ID |
593409 |
| 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 |
045755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7691 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57127813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 410
(I410F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
| AlphaFold |
P23818 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036315
AA Change: I410F
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: I410F
| 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 |
possibly damaging
Transcript: ENSMUST00000094179
AA Change: I410F
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: I410F
| 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 |
possibly damaging
Transcript: ENSMUST00000151045
AA Change: I341F
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: I341F
| 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: 99.5%
- 20x: 98.5%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,773,219 (GRCm39) |
C1763S |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,256,540 (GRCm39) |
V782A |
probably benign |
Het |
| Arhgef17 |
G |
A |
7: 100,578,849 (GRCm39) |
R700C |
probably damaging |
Het |
| Atxn2l |
T |
C |
7: 126,091,782 (GRCm39) |
|
probably null |
Het |
| Bach2 |
A |
G |
4: 32,580,271 (GRCm39) |
E832G |
probably damaging |
Het |
| Brpf3 |
G |
C |
17: 29,025,805 (GRCm39) |
A293P |
probably damaging |
Het |
| Cacfd1 |
T |
C |
2: 26,900,106 (GRCm39) |
L36P |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,220,742 (GRCm39) |
E268G |
probably damaging |
Het |
| Ccnjl |
A |
T |
11: 43,474,028 (GRCm39) |
Q201L |
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,560,048 (GRCm39) |
V372A |
probably damaging |
Het |
| Cenpf |
C |
A |
1: 189,390,404 (GRCm39) |
E1143* |
probably null |
Het |
| Colgalt1 |
A |
T |
8: 72,073,398 (GRCm39) |
M340L |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,376,497 (GRCm39) |
Y1586H |
not run |
Het |
| Csmd3 |
A |
G |
15: 47,604,569 (GRCm39) |
I1058T |
|
Het |
| Dock1 |
G |
A |
7: 134,739,886 (GRCm39) |
|
probably null |
Het |
| Dzank1 |
G |
A |
2: 144,348,091 (GRCm39) |
T225I |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,151,162 (GRCm39) |
R721W |
possibly damaging |
Het |
| Fdps |
A |
G |
3: 89,006,674 (GRCm39) |
V72A |
probably benign |
Het |
| Filip1l |
A |
G |
16: 57,392,796 (GRCm39) |
N1128S |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 52,991,510 (GRCm39) |
Y342N |
unknown |
Het |
| Gsdmc4 |
C |
A |
15: 63,765,640 (GRCm39) |
S303I |
probably damaging |
Het |
| Herc2 |
C |
T |
7: 55,841,593 (GRCm39) |
P3491S |
probably benign |
Het |
| Ift25 |
A |
G |
4: 107,130,886 (GRCm39) |
I59V |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,084,389 (GRCm39) |
H927R |
possibly damaging |
Het |
| Lrrc8e |
T |
C |
8: 4,284,534 (GRCm39) |
M253T |
probably damaging |
Het |
| Ltn1 |
G |
T |
16: 87,195,574 (GRCm39) |
H1317Q |
probably damaging |
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Mki67 |
C |
T |
7: 135,303,721 (GRCm39) |
V716I |
not run |
Het |
| Mllt10 |
A |
G |
2: 18,208,422 (GRCm39) |
S694G |
possibly damaging |
Het |
| Mllt10 |
G |
C |
2: 18,208,423 (GRCm39) |
S694T |
probably null |
Het |
| Mtcl1 |
A |
G |
17: 66,687,352 (GRCm39) |
L518S |
probably damaging |
Het |
| Or2ad1 |
G |
A |
13: 21,327,140 (GRCm39) |
A29V |
probably benign |
Het |
| Pcdh10 |
G |
T |
3: 45,335,632 (GRCm39) |
D649Y |
probably damaging |
Het |
| Pdgfrb |
C |
T |
18: 61,194,340 (GRCm39) |
T39M |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,655,726 (GRCm39) |
E342G |
probably benign |
Het |
| Pon1 |
C |
T |
6: 5,175,819 (GRCm39) |
V235I |
probably benign |
Het |
| Rhobtb3 |
A |
T |
13: 76,027,056 (GRCm39) |
V439E |
probably damaging |
Het |
| Septin8 |
A |
G |
11: 53,428,414 (GRCm39) |
T355A |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,947,168 (GRCm39) |
T1174I |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,461,163 (GRCm39) |
T3535S |
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,301,983 (GRCm39) |
V80A |
probably damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,384,708 (GRCm39) |
I123V |
probably benign |
Het |
| Sv2a |
A |
T |
3: 96,095,727 (GRCm39) |
I348F |
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,967,436 (GRCm39) |
R253* |
probably null |
Het |
| Tbc1d4 |
T |
C |
14: 101,745,077 (GRCm39) |
K183R |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,192,610 (GRCm39) |
D608V |
probably damaging |
Het |
| Tnfsf14 |
T |
A |
17: 57,501,024 (GRCm39) |
T16S |
possibly damaging |
Het |
| Togaram2 |
A |
G |
17: 72,023,405 (GRCm39) |
T774A |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,464,515 (GRCm39) |
A87E |
probably benign |
Het |
| Tsn |
T |
C |
1: 118,237,505 (GRCm39) |
D53G |
probably benign |
Het |
| Usp37 |
TC |
T |
1: 74,525,919 (GRCm39) |
|
probably null |
Het |
| Vav2 |
T |
A |
2: 27,187,750 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
T |
A |
7: 9,893,109 (GRCm39) |
I677F |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,592,851 (GRCm39) |
Y452F |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,687,111 (GRCm39) |
R831G |
probably damaging |
Het |
| Zfp821 |
T |
C |
8: 110,447,871 (GRCm39) |
S71P |
probably damaging |
Het |
| Zwilch |
T |
A |
9: 64,063,373 (GRCm39) |
I286F |
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 |
|
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'- ACCAATCACTGTGTGCCACC -3'
(R):5'- ACCCAGAACTGCTTATGTACAAG -3'
Sequencing Primer
(F):5'- ACTGTGTGCCACCATAGC -3'
(R):5'- GTCTCACTACATAGCAGAGGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation