Incidental Mutation 'R7511:Gria1'
| ID |
582106 |
| 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 |
045584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7511 (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 57174451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 647
(I647F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
| AlphaFold |
P23818 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036315
AA Change: I647F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: I647F
| 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: I647F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: I647F
| 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: I578F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: I578F
| 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 |
0.8698 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,189,954 (GRCm39) |
K327E |
probably damaging |
Het |
| Adamts14 |
G |
A |
10: 61,054,307 (GRCm39) |
A572V |
possibly damaging |
Het |
| Add2 |
A |
G |
6: 86,075,597 (GRCm39) |
N249D |
probably benign |
Het |
| Adgrb2 |
A |
T |
4: 129,915,904 (GRCm39) |
M1503L |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,586,407 (GRCm39) |
K421E |
unknown |
Het |
| B3galt5 |
A |
G |
16: 96,116,916 (GRCm39) |
K183R |
possibly damaging |
Het |
| Braf |
T |
C |
6: 39,665,187 (GRCm39) |
I94M |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,294,311 (GRCm39) |
E1158G |
possibly damaging |
Het |
| Ccdc177 |
C |
A |
12: 80,804,457 (GRCm39) |
V606L |
unknown |
Het |
| Ccdc38 |
C |
A |
10: 93,398,662 (GRCm39) |
L147I |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,886,130 (GRCm39) |
N210D |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,925,583 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
T |
A |
19: 4,202,525 (GRCm39) |
Y338N |
probably damaging |
Het |
| Crlf3 |
A |
C |
11: 79,954,812 (GRCm39) |
|
probably null |
Het |
| Crnn |
A |
T |
3: 93,056,723 (GRCm39) |
K503M |
probably damaging |
Het |
| Cul5 |
T |
A |
9: 53,537,269 (GRCm39) |
N521I |
probably damaging |
Het |
| Cyp2c50 |
T |
A |
19: 40,080,634 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
C |
14: 99,337,042 (GRCm39) |
H23R |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,949,519 (GRCm39) |
L441H |
|
Het |
| Dock7 |
C |
A |
4: 98,967,992 (GRCm39) |
E162* |
probably null |
Het |
| Dpp9 |
A |
T |
17: 56,512,611 (GRCm39) |
M174K |
possibly damaging |
Het |
| Dtd1 |
A |
G |
2: 144,459,147 (GRCm39) |
D57G |
probably benign |
Het |
| F3 |
A |
G |
3: 121,525,206 (GRCm39) |
E149G |
probably damaging |
Het |
| Glp2r |
C |
T |
11: 67,648,417 (GRCm39) |
R95K |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,068,358 (GRCm39) |
F273L |
probably benign |
Het |
| Heatr5a |
A |
C |
12: 51,926,217 (GRCm39) |
I1878S |
possibly damaging |
Het |
| Hsf2 |
G |
T |
10: 57,380,653 (GRCm39) |
C230F |
probably benign |
Het |
| Igfbp2 |
T |
G |
1: 72,891,164 (GRCm39) |
M254R |
probably damaging |
Het |
| Kifc2 |
C |
A |
15: 76,545,537 (GRCm39) |
Q95K |
possibly damaging |
Het |
| Lnx1 |
T |
G |
5: 74,780,972 (GRCm39) |
N183T |
probably benign |
Het |
| Ltn1 |
G |
T |
16: 87,205,716 (GRCm39) |
T983K |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,367,093 (GRCm39) |
V2556D |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,905,077 (GRCm39) |
V738A |
possibly damaging |
Het |
| Mtmr12 |
T |
G |
15: 12,265,681 (GRCm39) |
Y466D |
possibly damaging |
Het |
| Musk |
A |
G |
4: 58,333,672 (GRCm39) |
I256V |
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,452,338 (GRCm39) |
F43S |
probably damaging |
Het |
| Or10g9b |
A |
T |
9: 39,918,229 (GRCm39) |
S5R |
possibly damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,713 (GRCm39) |
L206P |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,390,249 (GRCm39) |
A132T |
probably damaging |
Het |
| Pak5 |
G |
A |
2: 135,925,244 (GRCm39) |
S686F |
possibly damaging |
Het |
| Pi4kb |
T |
C |
3: 94,896,623 (GRCm39) |
S307P |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,318,889 (GRCm39) |
T645A |
possibly damaging |
Het |
| Pold1 |
C |
T |
7: 44,191,614 (GRCm39) |
R124K |
possibly damaging |
Het |
| Pramel27 |
T |
A |
4: 143,573,116 (GRCm39) |
I3N |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,289,777 (GRCm39) |
Y1153H |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,391,693 (GRCm39) |
N947S |
possibly damaging |
Het |
| Rad54b |
A |
G |
4: 11,578,956 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
A |
G |
10: 81,335,623 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,432,269 (GRCm39) |
K760E |
probably benign |
Het |
| Sergef |
T |
A |
7: 46,264,170 (GRCm39) |
N239I |
probably damaging |
Het |
| Serpinb9 |
C |
A |
13: 33,192,054 (GRCm39) |
N78K |
probably benign |
Het |
| Sntb1 |
G |
T |
15: 55,511,347 (GRCm39) |
F412L |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,032,108 (GRCm39) |
F294L |
probably damaging |
Het |
| Ttll11 |
G |
A |
2: 35,793,046 (GRCm39) |
R266C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,624,882 (GRCm39) |
M15232K |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,584,793 (GRCm39) |
I547M |
probably benign |
Het |
| Vgf |
C |
A |
5: 137,060,245 (GRCm39) |
P136T |
unknown |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,914 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,901,405 (GRCm39) |
S511P |
probably damaging |
Het |
| Wdr27 |
C |
T |
17: 15,103,965 (GRCm39) |
V714I |
probably benign |
Het |
| Zbed6 |
T |
A |
1: 133,586,981 (GRCm39) |
I119L |
probably benign |
Het |
| Zfp229 |
A |
G |
17: 21,964,045 (GRCm39) |
S92G |
probably benign |
Het |
| Zfp710 |
C |
T |
7: 79,732,250 (GRCm39) |
Q476* |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,320,637 (GRCm39) |
N622S |
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 |
|
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'- ATCATGTTTGACATTTCTGCTGGC -3'
(R):5'- AGCCTCCTGAGTACTTCCAC -3'
Sequencing Primer
(F):5'- CAGAACTCTGCTGGCTCC -3'
(R):5'- CCTGAGTACTTCCACCATGG -3'
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| Posted On |
2019-10-17 |
Incidental Mutation