Incidental Mutation 'R9583:Grid1'
| ID |
722677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grid1
|
| Ensembl Gene |
ENSMUSG00000041078 |
| Gene Name |
glutamate receptor, ionotropic, delta 1 |
| Synonyms |
GluRdelta1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R9583 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35302492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 919
(E919G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
| AlphaFold |
Q61627 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043349
AA Change: E919G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: E919G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
36 |
400 |
4.1e-51 |
PFAM |
|
PBPe
|
438 |
807 |
4.68e-110 |
SMART |
|
Lig_chan-Glu_bd
|
448 |
510 |
8.18e-25 |
SMART |
|
low complexity region
|
838 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
958 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury. [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 |
|---|
| 2310057J18Rik |
A |
T |
10: 28,862,092 (GRCm39) |
I66N |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,760,071 (GRCm39) |
I97F |
probably benign |
Het |
| AI987944 |
T |
A |
7: 41,023,937 (GRCm39) |
R350S |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,109,096 (GRCm39) |
T1214A |
probably damaging |
Het |
| Arid5a |
A |
G |
1: 36,356,739 (GRCm39) |
E127G |
possibly damaging |
Het |
| Bbx |
T |
C |
16: 50,044,920 (GRCm39) |
E547G |
possibly damaging |
Het |
| Ceacam16 |
T |
C |
7: 19,587,803 (GRCm39) |
I322V |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,130,230 (GRCm39) |
N808K |
probably damaging |
Het |
| Copg2 |
A |
C |
6: 30,787,399 (GRCm39) |
L615* |
probably null |
Het |
| Cyp21a1 |
A |
G |
17: 35,022,017 (GRCm39) |
L221P |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,856,507 (GRCm39) |
V2885L |
probably damaging |
Het |
| Dnajb13 |
A |
G |
7: 100,152,446 (GRCm39) |
L290P |
probably damaging |
Het |
| Eif3e |
A |
G |
15: 43,128,957 (GRCm39) |
V221A |
probably damaging |
Het |
| Evc |
G |
A |
5: 37,473,701 (GRCm39) |
R511* |
probably null |
Het |
| Far2 |
C |
T |
6: 148,059,434 (GRCm39) |
P250S |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,686,996 (GRCm39) |
T44S |
|
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hoxb2 |
A |
G |
11: 96,242,725 (GRCm39) |
E30G |
probably damaging |
Het |
| Il5ra |
G |
A |
6: 106,689,331 (GRCm39) |
P75L |
unknown |
Het |
| Il5ra |
T |
A |
6: 106,721,297 (GRCm39) |
M1L |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,497,555 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
T |
A |
12: 119,153,708 (GRCm39) |
H269L |
possibly damaging |
Het |
| Jrk |
G |
A |
15: 74,578,403 (GRCm39) |
A294V |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,887,782 (GRCm39) |
D2V |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,650,258 (GRCm39) |
I272V |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,741,372 (GRCm39) |
S3825P |
probably damaging |
Het |
| Mex3d |
C |
A |
10: 80,218,129 (GRCm39) |
V363L |
|
Het |
| Mfsd13b |
C |
A |
7: 120,598,134 (GRCm39) |
H347N |
possibly damaging |
Het |
| Mllt1 |
G |
T |
17: 57,209,572 (GRCm39) |
H179Q |
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,678,069 (GRCm39) |
R563S |
probably benign |
Het |
| Ms4a18 |
T |
C |
19: 10,974,714 (GRCm39) |
T326A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,549,973 (GRCm39) |
D5440G |
probably benign |
Het |
| Muc2 |
A |
T |
7: 141,300,559 (GRCm39) |
E294V |
|
Het |
| Myh7b |
A |
G |
2: 155,459,641 (GRCm39) |
N241S |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,796,404 (GRCm39) |
I1007V |
possibly damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,893 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4a77 |
A |
G |
2: 89,487,005 (GRCm39) |
V260A |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,337,851 (GRCm39) |
D172V |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,140,135 (GRCm39) |
S19P |
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,976,723 (GRCm39) |
D588G |
probably null |
Het |
| Pkp4 |
A |
G |
2: 59,178,104 (GRCm39) |
N988D |
possibly damaging |
Het |
| Plxdc1 |
T |
C |
11: 97,824,844 (GRCm39) |
D344G |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,169 (GRCm39) |
R807H |
possibly damaging |
Het |
| Potefam3b |
T |
A |
8: 21,174,962 (GRCm39) |
F285I |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,623,142 (GRCm39) |
S237T |
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,531,642 (GRCm39) |
M661R |
possibly damaging |
Het |
| Slc9a2 |
G |
A |
1: 40,721,061 (GRCm39) |
V10M |
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,024,800 (GRCm39) |
S263P |
probably benign |
Het |
| Taf7l2 |
A |
T |
10: 115,948,931 (GRCm39) |
D198E |
probably benign |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,492 (GRCm39) |
T827I |
possibly damaging |
Het |
| Ttll1 |
T |
C |
15: 83,384,226 (GRCm39) |
T134A |
possibly damaging |
Het |
| Vmn1r196 |
G |
T |
13: 22,477,920 (GRCm39) |
M186I |
probably damaging |
Het |
| Vrk2 |
C |
T |
11: 26,433,157 (GRCm39) |
|
probably null |
Het |
| Zfp59 |
T |
A |
7: 27,554,483 (GRCm39) |
V645E |
probably benign |
Het |
|
| Other mutations in Grid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00705:Grid1
|
APN |
14 |
35,167,844 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01016:Grid1
|
APN |
14 |
34,544,596 (GRCm39) |
nonsense |
probably null |
|
|
IGL01643:Grid1
|
APN |
14 |
35,045,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01697:Grid1
|
APN |
14 |
35,031,214 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01879:Grid1
|
APN |
14 |
35,172,327 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01975:Grid1
|
APN |
14 |
35,045,383 (GRCm39) |
missense |
probably benign |
|
|
IGL02515:Grid1
|
APN |
14 |
35,174,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02935:Grid1
|
APN |
14 |
34,544,515 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03279:Grid1
|
APN |
14 |
34,667,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03286:Grid1
|
APN |
14 |
35,242,642 (GRCm39) |
splice site |
probably benign |
|
|
IGL03296:Grid1
|
APN |
14 |
35,302,524 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03305:Grid1
|
APN |
14 |
34,973,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Grid1
|
UTSW |
14 |
35,031,342 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0746:Grid1
|
UTSW |
14 |
34,544,647 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0811:Grid1
|
UTSW |
14 |
34,544,576 (GRCm39) |
missense |
probably benign |
|
|
R0812:Grid1
|
UTSW |
14 |
34,544,576 (GRCm39) |
missense |
probably benign |
|
|
R1144:Grid1
|
UTSW |
14 |
35,284,633 (GRCm39) |
splice site |
probably benign |
|
|
R1217:Grid1
|
UTSW |
14 |
34,542,186 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R1485:Grid1
|
UTSW |
14 |
34,544,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Grid1
|
UTSW |
14 |
35,031,250 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1606:Grid1
|
UTSW |
14 |
35,167,922 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1691:Grid1
|
UTSW |
14 |
35,174,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Grid1
|
UTSW |
14 |
35,167,988 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2374:Grid1
|
UTSW |
14 |
35,043,764 (GRCm39) |
splice site |
probably benign |
|
|
R2415:Grid1
|
UTSW |
14 |
35,172,326 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2866:Grid1
|
UTSW |
14 |
35,284,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3915:Grid1
|
UTSW |
14 |
35,242,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4044:Grid1
|
UTSW |
14 |
35,172,358 (GRCm39) |
splice site |
probably benign |
|
|
R4364:Grid1
|
UTSW |
14 |
34,667,989 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4691:Grid1
|
UTSW |
14 |
35,291,514 (GRCm39) |
missense |
probably benign |
|
|
R4694:Grid1
|
UTSW |
14 |
34,748,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Grid1
|
UTSW |
14 |
35,302,644 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4794:Grid1
|
UTSW |
14 |
34,544,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4854:Grid1
|
UTSW |
14 |
35,043,598 (GRCm39) |
missense |
probably benign |
|
|
R5555:Grid1
|
UTSW |
14 |
35,242,662 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6005:Grid1
|
UTSW |
14 |
35,045,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Grid1
|
UTSW |
14 |
35,284,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6569:Grid1
|
UTSW |
14 |
35,045,296 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6911:Grid1
|
UTSW |
14 |
34,542,185 (GRCm39) |
start codon destroyed |
probably benign |
0.08 |
|
R7504:Grid1
|
UTSW |
14 |
35,284,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Grid1
|
UTSW |
14 |
35,172,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Grid1
|
UTSW |
14 |
35,043,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Grid1
|
UTSW |
14 |
35,172,259 (GRCm39) |
splice site |
probably null |
|
|
R7913:Grid1
|
UTSW |
14 |
35,291,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8032:Grid1
|
UTSW |
14 |
35,045,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8333:Grid1
|
UTSW |
14 |
35,291,595 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8916:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Grid1
|
UTSW |
14 |
35,302,723 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8934:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8986:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Grid1
|
UTSW |
14 |
34,748,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9238:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Grid1
|
UTSW |
14 |
34,748,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Grid1
|
UTSW |
14 |
35,045,360 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9335:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9478:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Grid1
|
UTSW |
14 |
35,291,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Grid1
|
UTSW |
14 |
35,167,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9734:Grid1
|
UTSW |
14 |
35,302,742 (GRCm39) |
missense |
probably benign |
|
|
U24488:Grid1
|
UTSW |
14 |
35,302,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Grid1
|
UTSW |
14 |
35,174,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTTTGCAGCCAGCTGTCC -3'
(R):5'- GCCATGAGAGGTGTCCAGAG -3'
Sequencing Primer
(F):5'- GTCCTCAACACACTCTTAGGATG -3'
(R):5'- TTCACCGGGCTCTGTCGAAAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation