Incidental Mutation 'IGL02935:Grid1'
ID |
364261 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Grid1
|
Ensembl Gene |
ENSMUSG00000041078 |
Gene Name |
glutamate receptor, ionotropic, delta 1 |
Synonyms |
GluRdelta1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL02935
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34544515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 29
(I29F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
AlphaFold |
Q61627 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043349
AA Change: I29F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044009 Gene: ENSMUSG00000041078 AA Change: I29F
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 |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
G |
A |
13: 54,709,675 (GRCm39) |
P13L |
possibly damaging |
Het |
A930016O22Rik |
A |
T |
7: 19,154,338 (GRCm39) |
|
probably benign |
Het |
Ajuba |
A |
G |
14: 54,807,924 (GRCm39) |
F436S |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,971,625 (GRCm39) |
A961S |
probably damaging |
Het |
Brca1 |
A |
G |
11: 101,380,693 (GRCm39) |
V1780A |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,643,215 (GRCm39) |
L1043S |
probably damaging |
Het |
Cngb3 |
T |
A |
4: 19,425,491 (GRCm39) |
M433K |
possibly damaging |
Het |
Col4a1 |
T |
C |
8: 11,269,166 (GRCm39) |
D928G |
probably damaging |
Het |
Colq |
G |
A |
14: 31,257,591 (GRCm39) |
P259S |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,273,348 (GRCm39) |
Y828C |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,520,514 (GRCm39) |
R448G |
possibly damaging |
Het |
Dip2c |
A |
G |
13: 9,712,182 (GRCm39) |
D1435G |
probably damaging |
Het |
Dst |
T |
A |
1: 34,225,926 (GRCm39) |
L1188* |
probably null |
Het |
Duox1 |
G |
T |
2: 122,155,000 (GRCm39) |
G462C |
possibly damaging |
Het |
Flcn |
A |
T |
11: 59,686,062 (GRCm39) |
I402N |
possibly damaging |
Het |
Fuca2 |
G |
A |
10: 13,383,063 (GRCm39) |
E344K |
probably null |
Het |
Golim4 |
T |
C |
3: 75,802,299 (GRCm39) |
H331R |
possibly damaging |
Het |
Hltf |
T |
A |
3: 20,123,215 (GRCm39) |
F201Y |
probably damaging |
Het |
Ipo8 |
A |
T |
6: 148,691,339 (GRCm39) |
I677N |
probably benign |
Het |
Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
Meox2 |
A |
T |
12: 37,159,104 (GRCm39) |
H92L |
probably damaging |
Het |
Mlec |
C |
A |
5: 115,295,873 (GRCm39) |
R74L |
probably benign |
Het |
Mrpl58 |
G |
A |
11: 115,301,054 (GRCm39) |
|
probably benign |
Het |
Mtch1 |
T |
C |
17: 29,555,184 (GRCm39) |
D288G |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,582,990 (GRCm39) |
E1090G |
probably benign |
Het |
Nicn1 |
A |
G |
9: 108,167,845 (GRCm39) |
N39S |
probably benign |
Het |
Nlrp9c |
A |
G |
7: 26,084,701 (GRCm39) |
S293P |
probably benign |
Het |
Or2bd2 |
G |
A |
7: 6,443,753 (GRCm39) |
V285M |
possibly damaging |
Het |
Or51b4 |
T |
C |
7: 103,530,871 (GRCm39) |
N193S |
probably damaging |
Het |
Or5al1 |
G |
T |
2: 85,990,714 (GRCm39) |
|
probably benign |
Het |
Pcdh20 |
T |
A |
14: 88,704,438 (GRCm39) |
|
probably benign |
Het |
Peg3 |
C |
A |
7: 6,714,128 (GRCm39) |
V365F |
probably damaging |
Het |
Penk |
A |
G |
4: 4,133,843 (GRCm39) |
F268S |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,603,300 (GRCm39) |
Y116N |
probably damaging |
Het |
Prex1 |
C |
A |
2: 166,412,265 (GRCm39) |
G389C |
probably damaging |
Het |
Ptch2 |
C |
T |
4: 116,971,967 (GRCm39) |
A1163V |
probably damaging |
Het |
Rasgrp3 |
G |
A |
17: 75,804,065 (GRCm39) |
V123I |
probably benign |
Het |
Slc36a2 |
G |
T |
11: 55,060,854 (GRCm39) |
N185K |
possibly damaging |
Het |
Sox9 |
G |
T |
11: 112,676,175 (GRCm39) |
G455C |
probably damaging |
Het |
St6galnac1 |
G |
T |
11: 116,660,171 (GRCm39) |
D47E |
probably benign |
Het |
Taar5 |
A |
T |
10: 23,847,415 (GRCm39) |
D271V |
probably damaging |
Het |
Top3a |
A |
T |
11: 60,653,354 (GRCm39) |
I85K |
possibly damaging |
Het |
Ttll8 |
T |
A |
15: 88,798,759 (GRCm39) |
M659L |
probably benign |
Het |
Ythdc2 |
C |
T |
18: 44,988,112 (GRCm39) |
R656C |
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 |
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 |
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 |
|
Posted On |
2015-12-18 |