Incidental Mutation 'R5995:Gria1'
ID |
481077 |
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 |
044174-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5995 (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 T
at 57180111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 618
(Y618F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
AlphaFold |
P23818 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036315
AA Change: Y687F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044494 Gene: ENSMUSG00000020524 AA Change: Y687F
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: Y687F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091731 Gene: ENSMUSG00000020524 AA Change: Y687F
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: Y618F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117746 Gene: ENSMUSG00000020524 AA Change: Y618F
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 |
0.2604 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
Validation Efficiency |
100% (56/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Adgrb2 |
C |
A |
4: 129,910,896 (GRCm39) |
A1104E |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,614,378 (GRCm39) |
V4005A |
probably benign |
Het |
Bend6 |
T |
C |
1: 33,917,520 (GRCm39) |
|
probably null |
Het |
Brwd1 |
A |
T |
16: 95,865,987 (GRCm39) |
V265E |
probably damaging |
Het |
Ccdc96 |
A |
G |
5: 36,643,718 (GRCm39) |
I575V |
probably damaging |
Het |
Cd109 |
A |
T |
9: 78,607,561 (GRCm39) |
I1094L |
probably benign |
Het |
Cd44 |
A |
G |
2: 102,692,015 (GRCm39) |
V91A |
probably damaging |
Het |
Cdv3 |
C |
G |
9: 103,241,202 (GRCm39) |
G122R |
probably damaging |
Het |
Ces2c |
T |
A |
8: 105,577,533 (GRCm39) |
V272D |
possibly damaging |
Het |
Colgalt1 |
T |
A |
8: 72,075,754 (GRCm39) |
M467K |
probably damaging |
Het |
Crtam |
G |
A |
9: 40,905,836 (GRCm39) |
T31M |
possibly damaging |
Het |
Cyp7a1 |
C |
T |
4: 6,272,371 (GRCm39) |
V281M |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,659,829 (GRCm39) |
N726K |
probably benign |
Het |
Dok6 |
T |
C |
18: 89,439,142 (GRCm39) |
E232G |
possibly damaging |
Het |
Gm12185 |
T |
C |
11: 48,806,540 (GRCm39) |
E217G |
probably benign |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
H2-T22 |
A |
G |
17: 36,352,377 (GRCm39) |
Y183H |
probably benign |
Het |
Hace1 |
A |
T |
10: 45,546,487 (GRCm39) |
I374L |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,787,694 (GRCm39) |
T132S |
probably benign |
Het |
Hoxa3 |
T |
A |
6: 52,147,263 (GRCm39) |
|
probably benign |
Het |
Il27 |
A |
C |
7: 126,188,535 (GRCm39) |
|
probably benign |
Het |
Klhdc1 |
T |
C |
12: 69,297,548 (GRCm39) |
Y40H |
probably damaging |
Het |
Klhl33 |
T |
G |
14: 51,130,108 (GRCm39) |
E462A |
possibly damaging |
Het |
Myh10 |
T |
C |
11: 68,705,809 (GRCm39) |
I1979T |
probably benign |
Het |
Nfkbil1 |
G |
T |
17: 35,439,774 (GRCm39) |
F246L |
probably benign |
Het |
Nlrp1b |
A |
T |
11: 71,072,572 (GRCm39) |
F424I |
probably damaging |
Het |
Nod1 |
A |
G |
6: 54,921,539 (GRCm39) |
Y260H |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,433,898 (GRCm39) |
L69P |
probably damaging |
Het |
Onecut2 |
G |
T |
18: 64,474,619 (GRCm39) |
R390L |
probably damaging |
Het |
Oprm1 |
A |
C |
10: 6,782,520 (GRCm39) |
M388L |
probably benign |
Het |
Or10q3 |
A |
T |
19: 11,848,226 (GRCm39) |
I118N |
possibly damaging |
Het |
Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
Or1o3 |
C |
A |
17: 37,574,539 (GRCm39) |
Q5H |
probably benign |
Het |
Or5aq1 |
T |
C |
2: 86,966,200 (GRCm39) |
N155S |
probably damaging |
Het |
Or5b96 |
A |
C |
19: 12,867,961 (GRCm39) |
|
probably null |
Het |
Or8g53 |
A |
G |
9: 39,683,988 (GRCm39) |
V36A |
probably benign |
Het |
Pcdhgc5 |
T |
A |
18: 37,954,113 (GRCm39) |
Y462* |
probably null |
Het |
Pex1 |
T |
A |
5: 3,657,704 (GRCm39) |
M425K |
possibly damaging |
Het |
Plec |
A |
T |
15: 76,070,105 (GRCm39) |
Y1001N |
probably damaging |
Het |
Poglut3 |
T |
C |
9: 53,307,195 (GRCm39) |
Y380H |
probably damaging |
Het |
Pou2f2 |
T |
G |
7: 24,796,869 (GRCm39) |
K236Q |
probably damaging |
Het |
Rbm20 |
G |
A |
19: 53,839,698 (GRCm39) |
E896K |
possibly damaging |
Het |
Sh3tc2 |
T |
A |
18: 62,123,081 (GRCm39) |
L614Q |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,751,029 (GRCm39) |
I339F |
unknown |
Het |
Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
Snrk |
A |
G |
9: 121,986,288 (GRCm39) |
N219S |
probably damaging |
Het |
Supt20 |
T |
C |
3: 54,616,474 (GRCm39) |
S245P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,591,636 (GRCm39) |
I21011T |
probably damaging |
Het |
Vmn2r11 |
T |
A |
5: 109,194,921 (GRCm39) |
I802F |
probably damaging |
Het |
Vmn2r92 |
T |
C |
17: 18,389,213 (GRCm39) |
|
probably null |
Het |
Ythdc2 |
T |
A |
18: 45,019,320 (GRCm39) |
M1363K |
probably damaging |
Het |
Zan |
T |
C |
5: 137,377,071 (GRCm39) |
|
probably benign |
Het |
Zfp521 |
C |
A |
18: 13,850,681 (GRCm39) |
C1261F |
probably damaging |
Het |
Zfp980 |
A |
T |
4: 145,428,479 (GRCm39) |
K403* |
probably null |
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 |
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'- TTTGTACCTTGGAACCTACTGG -3'
(R):5'- TTGGAATCCAAGTTACCTCCC -3'
Sequencing Primer
(F):5'- CCTACTGGTACTAATTAGAGGCTC -3'
(R):5'- CCACTTTCATGGTGTCACAGGG -3'
|
Posted On |
2017-06-26 |