Incidental Mutation 'R4044:Grid1'
ID |
314001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grid1
|
Ensembl Gene |
ENSMUSG00000041078 |
Gene Name |
glutamate receptor, ionotropic, delta 1 |
Synonyms |
GluRdelta1 |
MMRRC Submission |
040967-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R4044 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 35172358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
AlphaFold |
Q61627 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043349
|
SMART Domains |
Protein: ENSMUSP00000044009 Gene: ENSMUSG00000041078
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227253
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (45/45) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
T |
A |
9: 89,044,347 (GRCm39) |
|
noncoding transcript |
Het |
Ada |
A |
T |
2: 163,577,380 (GRCm39) |
I36N |
probably damaging |
Het |
Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
Atg7 |
T |
C |
6: 114,678,939 (GRCm39) |
V384A |
probably benign |
Het |
Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
Cep70 |
T |
A |
9: 99,144,662 (GRCm39) |
C66S |
possibly damaging |
Het |
D16Ertd472e |
A |
T |
16: 78,372,894 (GRCm39) |
D14E |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 66,024,461 (GRCm39) |
K278E |
probably benign |
Het |
Dsg1a |
C |
A |
18: 20,457,087 (GRCm39) |
N153K |
probably damaging |
Het |
Galnt5 |
T |
A |
2: 57,888,472 (GRCm39) |
I24N |
probably damaging |
Het |
Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,839,810 (GRCm39) |
T706A |
possibly damaging |
Het |
Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
Jam3 |
C |
A |
9: 27,013,159 (GRCm39) |
|
probably null |
Het |
Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
Klk1b4 |
A |
G |
7: 43,860,179 (GRCm39) |
M98V |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
Ksr2 |
C |
T |
5: 117,693,127 (GRCm39) |
R192* |
probably null |
Het |
L3mbtl4 |
T |
C |
17: 69,084,909 (GRCm39) |
S607P |
possibly damaging |
Het |
Map6 |
T |
C |
7: 98,917,256 (GRCm39) |
C10R |
probably damaging |
Het |
Myo3a |
A |
G |
2: 22,467,712 (GRCm39) |
E322G |
probably damaging |
Het |
Nell1 |
A |
G |
7: 49,869,367 (GRCm39) |
N214S |
probably damaging |
Het |
Npm3 |
T |
C |
19: 45,736,692 (GRCm39) |
E149G |
possibly damaging |
Het |
Or4k35 |
C |
T |
2: 111,099,927 (GRCm39) |
V262I |
probably benign |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Orc3 |
G |
A |
4: 34,587,055 (GRCm39) |
Q345* |
probably null |
Het |
Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
Pals1 |
G |
A |
12: 78,871,613 (GRCm39) |
E398K |
probably benign |
Het |
Pramel26 |
T |
A |
4: 143,538,170 (GRCm39) |
N267I |
probably benign |
Het |
Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
Reln |
A |
T |
5: 22,333,630 (GRCm39) |
V264D |
possibly damaging |
Het |
Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
Scaf1 |
G |
A |
7: 44,655,798 (GRCm39) |
|
probably benign |
Het |
Sncaip |
A |
G |
18: 53,040,475 (GRCm39) |
T890A |
probably benign |
Het |
Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
Thada |
A |
G |
17: 84,749,135 (GRCm39) |
V612A |
probably benign |
Het |
Tsnaxip1 |
G |
A |
8: 106,560,177 (GRCm39) |
|
probably null |
Het |
Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
Vrtn |
T |
C |
12: 84,695,844 (GRCm39) |
I198T |
probably damaging |
Het |
Wnt9b |
T |
C |
11: 103,622,824 (GRCm39) |
D193G |
probably damaging |
Het |
Znrd2 |
T |
C |
19: 5,780,431 (GRCm39) |
E189G |
probably damaging |
Het |
Zswim5 |
A |
G |
4: 116,843,899 (GRCm39) |
D979G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCATCAAGAAGCCTGAGG -3'
(R):5'- AGCCATCACTCTAACGTGGG -3'
Sequencing Primer
(F):5'- CCTGAGGAGAAGATCAGCATC -3'
(R):5'- CATCACTCTAACGTGGGAGGGG -3'
|
Posted On |
2015-04-30 |