Incidental Mutation 'R7898:Gria1'
| ID |
609831 |
| 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 |
045950-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7898 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
56902342-57221070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57133591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 490
(V490E)
|
| 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: V490E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: V490E
| 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: V490E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: V490E
| 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: V421E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: V421E
| 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 |
0.9358 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (69/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,255,275 (GRCm39) |
|
probably null |
Het |
| Afg2a |
T |
G |
3: 37,474,620 (GRCm39) |
M44R |
probably benign |
Het |
| Ankef1 |
C |
A |
2: 136,395,618 (GRCm39) |
N649K |
probably benign |
Het |
| Arl5b |
T |
A |
2: 15,079,869 (GRCm39) |
S147T |
probably damaging |
Het |
| Arnt2 |
A |
T |
7: 83,918,155 (GRCm39) |
|
probably null |
Het |
| Ash1l |
A |
G |
3: 88,890,932 (GRCm39) |
E937G |
possibly damaging |
Het |
| Asxl1 |
T |
G |
2: 153,241,854 (GRCm39) |
S802R |
possibly damaging |
Het |
| Cacna1h |
T |
A |
17: 25,611,250 (GRCm39) |
H516L |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,218,829 (GRCm39) |
Y550C |
probably damaging |
Het |
| Cdo1 |
A |
G |
18: 46,861,157 (GRCm39) |
I18T |
probably benign |
Het |
| Cfap251 |
A |
T |
5: 123,460,517 (GRCm39) |
I1160F |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,169,223 (GRCm39) |
|
probably null |
Het |
| Dbf4 |
A |
G |
5: 8,458,232 (GRCm39) |
|
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,286,361 (GRCm39) |
R132W |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,859,425 (GRCm39) |
S2131P |
probably damaging |
Het |
| Eef2k |
A |
G |
7: 120,494,441 (GRCm39) |
Y599C |
probably damaging |
Het |
| Eno2 |
C |
T |
6: 124,744,225 (GRCm39) |
|
probably null |
Het |
| Fam124b |
T |
A |
1: 80,191,512 (GRCm39) |
|
probably benign |
Het |
| Fezf2 |
A |
G |
14: 12,342,701 (GRCm38) |
I388T |
possibly damaging |
Het |
| Gbp11 |
T |
C |
5: 105,472,798 (GRCm39) |
N542S |
probably benign |
Het |
| Gdpd1 |
T |
A |
11: 86,932,639 (GRCm39) |
I229F |
probably damaging |
Het |
| Grm8 |
G |
A |
6: 27,762,422 (GRCm39) |
R268C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,469,880 (GRCm39) |
S2592T |
probably benign |
Het |
| Herpud1 |
C |
T |
8: 95,118,828 (GRCm39) |
T194I |
probably benign |
Het |
| Hspa1b |
T |
C |
17: 35,177,167 (GRCm39) |
T273A |
probably benign |
Het |
| Iftap |
T |
A |
2: 101,416,747 (GRCm39) |
K67N |
probably benign |
Het |
| Ighm |
T |
A |
12: 113,384,873 (GRCm39) |
K327* |
probably null |
Het |
| Igkv3-4 |
A |
T |
6: 70,649,297 (GRCm39) |
I99F |
probably damaging |
Het |
| Iqca1l |
T |
C |
5: 24,758,643 (GRCm39) |
E117G |
probably damaging |
Het |
| Isl2 |
C |
A |
9: 55,449,723 (GRCm39) |
S97R |
probably benign |
Het |
| Klhl12 |
A |
T |
1: 134,386,219 (GRCm39) |
I4F |
probably benign |
Het |
| Lgalsl2 |
G |
A |
7: 5,362,441 (GRCm39) |
R24H |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,271,710 (GRCm39) |
E4074G |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,342,441 (GRCm39) |
N1645D |
probably damaging |
Het |
| Mettl23 |
T |
C |
11: 116,736,679 (GRCm39) |
|
probably benign |
Het |
| Mettl24 |
A |
G |
10: 40,686,478 (GRCm39) |
E285G |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,196,246 (GRCm39) |
L506P |
probably benign |
Het |
| Mup18 |
G |
T |
4: 61,590,925 (GRCm39) |
|
probably null |
Het |
| Myom1 |
T |
C |
17: 71,352,747 (GRCm39) |
L357P |
probably benign |
Het |
| Nkx2-9 |
G |
A |
12: 56,659,031 (GRCm39) |
A61V |
probably benign |
Het |
| Or52n5 |
C |
T |
7: 104,588,573 (GRCm39) |
A280V |
probably damaging |
Het |
| Pbx1 |
A |
T |
1: 168,012,616 (GRCm39) |
M340K |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,618,233 (GRCm39) |
N8Y |
probably benign |
Het |
| Pex13 |
C |
A |
11: 23,600,929 (GRCm39) |
|
probably null |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,943,408 (GRCm39) |
R1884G |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,865,245 (GRCm39) |
V699E |
probably damaging |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,310 (GRCm39) |
H728Q |
probably benign |
Het |
| Prss12 |
T |
C |
3: 123,300,145 (GRCm39) |
V752A |
possibly damaging |
Het |
| Prss56 |
A |
G |
1: 87,111,921 (GRCm39) |
S51G |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,009,240 (GRCm39) |
R854W |
probably damaging |
Het |
| Rhobtb2 |
C |
T |
14: 70,033,746 (GRCm39) |
C493Y |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rusf1 |
C |
A |
7: 127,897,177 (GRCm39) |
A27S |
probably benign |
Het |
| Scap |
A |
G |
9: 110,213,811 (GRCm39) |
N1258S |
possibly damaging |
Het |
| Sec31a |
C |
T |
5: 100,547,336 (GRCm39) |
G218R |
probably damaging |
Het |
| Siglec15 |
A |
T |
18: 78,086,914 (GRCm39) |
M315K |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,308,573 (GRCm39) |
|
probably null |
Het |
| Smchd1 |
T |
C |
17: 71,684,813 (GRCm39) |
|
probably null |
Het |
| Spag4 |
A |
T |
2: 155,911,244 (GRCm39) |
D393V |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,875,518 (GRCm39) |
N176S |
probably damaging |
Het |
| Tmem9 |
T |
A |
1: 135,955,125 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
T |
C |
6: 29,565,223 (GRCm39) |
I577V |
probably benign |
Het |
| Tti1 |
A |
C |
2: 157,835,390 (GRCm39) |
I956S |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,344,725 (GRCm39) |
R181G |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,012,995 (GRCm39) |
C1654S |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,635,380 (GRCm39) |
C109* |
probably null |
Het |
| Znrf4 |
A |
G |
17: 56,818,681 (GRCm39) |
C209R |
probably damaging |
Het |
| Zzef1 |
T |
G |
11: 72,687,373 (GRCm39) |
L84R |
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 |
|
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 |
|
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'- ATACCGTTTCCACATCCTTATGGTA -3'
(R):5'- GCTCACTCCAATGTAGGCAAAC -3'
Sequencing Primer
(F):5'- TATAGTGCACGCCTGGAATC -3'
(R):5'- CACTATACACATCCAGATCTCGTAGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation