Incidental Mutation 'R8472:Gria1'
| ID |
657084 |
| 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 |
067916-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8472 (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 57218410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 819
(M819L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036315]
[ENSMUST00000094179]
[ENSMUST00000151045]
|
| AlphaFold |
P23818 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036315
AA Change: M888L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: M888L
| 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: M888L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: M888L
| 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: M819L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: M819L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,754,138 (GRCm39) |
S152P |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,608 (GRCm39) |
S222P |
probably damaging |
Het |
| Cdcp2 |
C |
T |
4: 106,959,981 (GRCm39) |
A132V |
probably damaging |
Het |
| Cnksr3 |
G |
T |
10: 7,084,532 (GRCm39) |
P71Q |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,247,057 (GRCm39) |
P185L |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,515,883 (GRCm39) |
V319A |
probably damaging |
Het |
| Ctxn2 |
A |
G |
2: 124,989,528 (GRCm39) |
I52V |
possibly damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,021 (GRCm39) |
H334L |
probably benign |
Het |
| Dab1 |
A |
G |
4: 104,336,439 (GRCm39) |
K12E |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,709,463 (GRCm39) |
D1815V |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,304,037 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
G |
T |
11: 101,674,827 (GRCm39) |
D56E |
probably damaging |
Het |
| Exoc3l2 |
C |
T |
7: 19,215,190 (GRCm39) |
R484* |
probably null |
Het |
| Extl1 |
A |
G |
4: 134,098,603 (GRCm39) |
C143R |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,286,563 (GRCm39) |
I987V |
possibly damaging |
Het |
| Fbn1 |
A |
C |
2: 125,151,722 (GRCm39) |
C2511G |
probably damaging |
Het |
| Fer |
T |
A |
17: 64,280,144 (GRCm39) |
S72T |
probably benign |
Het |
| Gdf2 |
A |
G |
14: 33,666,797 (GRCm39) |
D173G |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,427,432 (GRCm39) |
R187* |
probably null |
Het |
| Heatr6 |
A |
G |
11: 83,656,679 (GRCm39) |
N314D |
probably benign |
Het |
| Hspd1 |
T |
C |
1: 55,117,505 (GRCm39) |
D555G |
probably benign |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,649 (GRCm39) |
Y8C |
probably benign |
Het |
| Lcmt2 |
A |
G |
2: 120,970,729 (GRCm39) |
V118A |
probably damaging |
Het |
| Lmf2 |
T |
C |
15: 89,239,005 (GRCm39) |
E37G |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,346,795 (GRCm39) |
L1161P |
probably damaging |
Het |
| Mbip |
T |
A |
12: 56,377,054 (GRCm39) |
|
probably null |
Het |
| Mgam |
A |
T |
6: 40,671,460 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
G |
A |
6: 60,965,380 (GRCm39) |
S1136N |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,502,943 (GRCm39) |
V73A |
possibly damaging |
Het |
| Mtbp |
C |
T |
15: 55,449,748 (GRCm39) |
L24F |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,341,120 (GRCm39) |
I37N |
probably benign |
Het |
| Nkx3-1 |
A |
G |
14: 69,429,507 (GRCm39) |
N175S |
probably damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,145 (GRCm39) |
I500T |
possibly damaging |
Het |
| Or10a3 |
T |
A |
7: 108,479,973 (GRCm39) |
Q280L |
possibly damaging |
Het |
| Or1e1f |
C |
T |
11: 73,856,223 (GRCm39) |
S263L |
possibly damaging |
Het |
| Or6c33 |
A |
G |
10: 129,853,445 (GRCm39) |
T72A |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,074,325 (GRCm39) |
D652G |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,354,018 (GRCm39) |
N114K |
probably damaging |
Het |
| Pdp2 |
A |
G |
8: 105,320,913 (GRCm39) |
E254G |
probably benign |
Het |
| Pip5kl1 |
T |
C |
2: 32,470,018 (GRCm39) |
V241A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,469,400 (GRCm39) |
D168E |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,296,015 (GRCm39) |
H143Q |
probably benign |
Het |
| Serpina16 |
T |
A |
12: 103,638,796 (GRCm39) |
I264F |
probably benign |
Het |
| Slc25a41 |
G |
A |
17: 57,348,582 (GRCm39) |
H4Y |
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,949,115 (GRCm39) |
H87P |
probably damaging |
Het |
| Smc3 |
T |
G |
19: 53,617,142 (GRCm39) |
H518Q |
probably benign |
Het |
| Snrpb |
G |
T |
2: 130,015,042 (GRCm39) |
T158K |
probably damaging |
Het |
| Sobp |
A |
G |
10: 42,898,392 (GRCm39) |
F398L |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,958,591 (GRCm39) |
Q57L |
probably benign |
Het |
| Srd5a3 |
T |
G |
5: 76,297,648 (GRCm39) |
V26G |
possibly damaging |
Het |
| Stx17 |
A |
G |
4: 48,166,972 (GRCm39) |
T131A |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,332,985 (GRCm39) |
L553P |
possibly damaging |
Het |
| Tbc1d30 |
C |
A |
10: 121,187,009 (GRCm39) |
G59C |
probably benign |
Het |
| Tekt1 |
T |
C |
11: 72,242,850 (GRCm39) |
D219G |
possibly damaging |
Het |
| Trav9d-1 |
A |
T |
14: 53,030,163 (GRCm39) |
D89V |
possibly damaging |
Het |
| Trim34b |
T |
C |
7: 103,980,545 (GRCm39) |
I211T |
probably benign |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,531 (GRCm39) |
L253M |
possibly damaging |
Het |
| Vmn1r56 |
C |
T |
7: 5,198,904 (GRCm39) |
V238M |
probably damaging |
Het |
| Wipf3 |
A |
G |
6: 54,466,070 (GRCm39) |
I443V |
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 |
|
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 |
|
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'- GCAATCATTACCAAGGACCTGG -3'
(R):5'- ATTCTTCAGGGACATTGGCTG -3'
Sequencing Primer
(F):5'- TCATTACCAAGGACCTGGGGAAG -3'
(R):5'- GGCTGAATTGCCCTCCATATGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation