Incidental Mutation 'R9238:Grid1'
ID |
700605 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grid1
|
Ensembl Gene |
ENSMUSG00000041078 |
Gene Name |
glutamate receptor, ionotropic, delta 1 |
Synonyms |
GluRdelta1 |
MMRRC Submission |
068987-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R9238 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 35043664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 340
(D340N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
AlphaFold |
Q61627 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043349
AA Change: D340N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044009 Gene: ENSMUSG00000041078 AA Change: D340N
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: 98.6%
|
Validation Efficiency |
98% (47/48) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agfg2 |
C |
A |
5: 137,653,622 (GRCm39) |
V365F |
probably damaging |
Het |
Atxn7 |
A |
T |
14: 14,089,441 (GRCm38) |
N319I |
probably damaging |
Het |
AY074887 |
C |
T |
9: 54,858,087 (GRCm39) |
V13M |
unknown |
Het |
Boc |
T |
C |
16: 44,311,021 (GRCm39) |
T738A |
|
Het |
C2cd5 |
A |
G |
6: 143,027,127 (GRCm39) |
V126A |
possibly damaging |
Het |
Cdk9 |
A |
T |
2: 32,598,273 (GRCm39) |
L261Q |
possibly damaging |
Het |
Chi3l1 |
T |
C |
1: 134,115,685 (GRCm39) |
L231P |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,399,027 (GRCm39) |
C604S |
probably null |
Het |
Dop1a |
T |
C |
9: 86,415,027 (GRCm39) |
V1923A |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,546,018 (GRCm39) |
S230P |
probably benign |
Het |
Eps15l1 |
T |
C |
8: 73,095,274 (GRCm39) |
E892G |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,705,871 (GRCm39) |
T1133A |
probably benign |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,832,220 (GRCm39) |
I1518F |
possibly damaging |
Het |
Herc2 |
T |
A |
7: 55,813,508 (GRCm39) |
C2580S |
probably damaging |
Het |
Ino80b |
T |
A |
6: 83,102,314 (GRCm39) |
|
probably benign |
Het |
Kdm2b |
T |
C |
5: 123,009,889 (GRCm39) |
R1274G |
probably damaging |
Het |
Lcn12 |
A |
G |
2: 25,382,273 (GRCm39) |
I144T |
possibly damaging |
Het |
Lrrc37 |
G |
T |
11: 103,509,859 (GRCm39) |
P703Q |
unknown |
Het |
Mroh5 |
T |
C |
15: 73,663,586 (GRCm39) |
N158S |
probably benign |
Het |
Mtpap |
G |
T |
18: 4,396,439 (GRCm39) |
G577V |
probably damaging |
Het |
Ncoa1 |
A |
G |
12: 4,325,177 (GRCm39) |
V967A |
possibly damaging |
Het |
Ndufa11 |
T |
C |
17: 57,028,112 (GRCm39) |
Y61H |
probably benign |
Het |
Nr2c2 |
T |
A |
6: 92,144,530 (GRCm39) |
N602K |
probably damaging |
Het |
Nubp1 |
C |
A |
16: 10,231,604 (GRCm39) |
T85K |
probably benign |
Het |
Oosp3 |
A |
G |
19: 11,676,753 (GRCm39) |
I37M |
probably damaging |
Het |
Optn |
A |
G |
2: 5,057,951 (GRCm39) |
S73P |
probably damaging |
Het |
Or10j3 |
T |
C |
1: 173,031,352 (GRCm39) |
I143T |
probably benign |
Het |
Or2y15 |
A |
G |
11: 49,350,529 (GRCm39) |
T8A |
probably benign |
Het |
Osmr |
T |
G |
15: 6,846,086 (GRCm39) |
I779L |
possibly damaging |
Het |
Pcdh20 |
T |
C |
14: 88,706,190 (GRCm39) |
D370G |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,550,570 (GRCm39) |
S571P |
probably benign |
Het |
Pgbd5 |
A |
G |
8: 125,106,930 (GRCm39) |
I204T |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,604,799 (GRCm39) |
I1172T |
possibly damaging |
Het |
Plch1 |
T |
A |
3: 63,606,412 (GRCm39) |
H1164L |
possibly damaging |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Rab38 |
T |
A |
7: 88,099,954 (GRCm39) |
F156L |
possibly damaging |
Het |
Rtl1 |
T |
C |
12: 109,561,017 (GRCm39) |
E274G |
possibly damaging |
Het |
Serpinb9 |
A |
G |
13: 33,199,479 (GRCm39) |
D258G |
probably benign |
Het |
Slc26a11 |
T |
C |
11: 119,265,733 (GRCm39) |
|
probably null |
Het |
Slco1a7 |
G |
T |
6: 141,686,153 (GRCm39) |
T229K |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,528,447 (GRCm39) |
T1568N |
probably damaging |
Het |
Ston2 |
T |
C |
12: 91,615,461 (GRCm39) |
T316A |
probably benign |
Het |
Tacc1 |
A |
T |
8: 25,672,634 (GRCm39) |
M198K |
probably benign |
Het |
Tspan33 |
T |
C |
6: 29,710,652 (GRCm39) |
F76S |
probably damaging |
Het |
Tspyl5 |
T |
C |
15: 33,687,082 (GRCm39) |
I288V |
possibly damaging |
Het |
Vmn2r50 |
G |
A |
7: 9,781,503 (GRCm39) |
S414F |
probably benign |
Het |
Zfp141 |
G |
A |
7: 42,125,111 (GRCm39) |
R454* |
probably null |
Het |
Zscan22 |
T |
A |
7: 12,641,075 (GRCm39) |
C440S |
probably damaging |
Het |
Zscan4-ps2 |
A |
T |
7: 11,251,339 (GRCm39) |
Q153L |
probably damaging |
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 |
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 |
R9583:Grid1
|
UTSW |
14 |
35,302,492 (GRCm39) |
missense |
possibly damaging |
0.90 |
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'- CTTGGATGAGCTGCTGAAAAC -3'
(R):5'- GTACCAACTAAGTGGGAGTGC -3'
Sequencing Primer
(F):5'- CTCACAGGACCAGGAAGATACTGTTG -3'
(R):5'- CAATAATGAGGGCCTTGTCTCCAG -3'
|
Posted On |
2022-02-07 |