Incidental Mutation 'R1422:Gria1'
ID |
161134 |
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 |
039478-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1422 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57080614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 199
(L199Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
AlphaFold |
P23818 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036315
AA Change: L199Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000044494 Gene: ENSMUSG00000020524 AA Change: L199Q
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: L199Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000091731 Gene: ENSMUSG00000020524 AA Change: L199Q
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: L130Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000117746 Gene: ENSMUSG00000020524 AA Change: L130Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173531
|
Meta Mutation Damage Score |
0.0906 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.6%
|
Validation Efficiency |
100% (51/51) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
Arhgap5 |
T |
A |
12: 52,566,297 (GRCm39) |
D1089E |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
Becn1 |
T |
C |
11: 101,185,952 (GRCm39) |
D98G |
possibly damaging |
Het |
Coro2b |
A |
G |
9: 62,336,229 (GRCm39) |
|
probably null |
Het |
Cpne4 |
T |
C |
9: 104,777,484 (GRCm39) |
I143T |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,853,433 (GRCm39) |
I35T |
probably benign |
Het |
Ctns |
T |
C |
11: 73,076,072 (GRCm39) |
Y321C |
probably damaging |
Het |
Cyp4f16 |
A |
T |
17: 32,761,973 (GRCm39) |
M174L |
probably damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,317,168 (GRCm39) |
E10G |
possibly damaging |
Het |
Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
Fam184a |
A |
T |
10: 53,551,304 (GRCm39) |
M625K |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,881,234 (GRCm39) |
E696G |
probably damaging |
Het |
Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
Hk1 |
T |
C |
10: 62,131,873 (GRCm39) |
D184G |
probably null |
Het |
Ift88 |
T |
C |
14: 57,675,758 (GRCm39) |
|
probably benign |
Het |
Ift88 |
G |
A |
14: 57,710,436 (GRCm39) |
V403M |
probably damaging |
Het |
Igsf1 |
C |
A |
X: 48,871,813 (GRCm39) |
G737* |
probably null |
Het |
Kif19a |
A |
G |
11: 114,676,635 (GRCm39) |
D488G |
probably benign |
Het |
Lpcat2 |
T |
C |
8: 93,606,045 (GRCm39) |
L232P |
probably damaging |
Het |
Ly9 |
A |
G |
1: 171,428,780 (GRCm39) |
V280A |
probably damaging |
Het |
Macrod2 |
T |
A |
2: 140,261,861 (GRCm39) |
|
probably null |
Het |
Mmp1a |
A |
G |
9: 7,464,298 (GRCm39) |
|
probably null |
Het |
Mmrn2 |
A |
G |
14: 34,118,196 (GRCm39) |
H80R |
probably damaging |
Het |
Or2b4 |
T |
C |
17: 38,116,254 (GRCm39) |
Y73H |
probably damaging |
Het |
Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
Or5l13 |
G |
A |
2: 87,780,439 (GRCm39) |
T46I |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,348,340 (GRCm39) |
P194H |
unknown |
Het |
Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
Pms2 |
T |
A |
5: 143,850,523 (GRCm39) |
S113T |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,351,276 (GRCm39) |
I590V |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rad17 |
A |
G |
13: 100,781,590 (GRCm39) |
L69P |
probably benign |
Het |
Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
Robo2 |
G |
A |
16: 73,775,336 (GRCm39) |
T466M |
probably damaging |
Het |
Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,833,988 (GRCm39) |
S357P |
probably benign |
Het |
Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
Spock3 |
T |
C |
8: 63,597,023 (GRCm39) |
I109T |
possibly damaging |
Het |
Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
Tenm4 |
A |
T |
7: 96,199,258 (GRCm39) |
D17V |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,274,029 (GRCm39) |
M558K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,572,014 (GRCm39) |
E26293G |
probably damaging |
Het |
Vmn1r29 |
A |
G |
6: 58,284,871 (GRCm39) |
Y197C |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,032,080 (GRCm39) |
|
probably benign |
Het |
Zfp366 |
A |
G |
13: 99,365,804 (GRCm39) |
K322E |
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 |
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'- CAGACACGGATGTCACCTGTGAATG -3'
(R):5'- AGTCAGTGTGAGGACCGCTTGAAG -3'
Sequencing Primer
(F):5'- TCACCTGTGAATGCTGACG -3'
(R):5'- TGGAAATTTGAGGACTCCCC -3'
|
Posted On |
2014-03-14 |