Incidental Mutation 'R8032:Grid1'
| ID |
618048 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35045316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 386
(D386E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
| AlphaFold |
Q61627 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043349
AA Change: D386E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: D386E
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt2 |
T |
A |
4: 154,751,955 (GRCm39) |
E60D |
probably benign |
Het |
| Adamts12 |
T |
C |
15: 11,259,189 (GRCm39) |
|
probably null |
Het |
| Ak9 |
T |
A |
10: 41,300,616 (GRCm39) |
C1609S |
unknown |
Het |
| Aox1 |
A |
T |
1: 58,389,442 (GRCm39) |
Y1147F |
probably benign |
Het |
| Atf7ip |
T |
C |
6: 136,542,110 (GRCm39) |
F615L |
probably benign |
Het |
| BC005624 |
A |
G |
2: 30,865,901 (GRCm39) |
|
probably null |
Het |
| BC024063 |
T |
A |
10: 81,943,738 (GRCm39) |
M33K |
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,906,502 (GRCm39) |
S532T |
probably benign |
Het |
| Cast |
G |
A |
13: 74,883,360 (GRCm39) |
Q292* |
probably null |
Het |
| Ccdc7a |
G |
T |
8: 129,551,864 (GRCm39) |
H1249N |
unknown |
Het |
| Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
| Col15a1 |
T |
C |
4: 47,288,108 (GRCm39) |
I4T |
unknown |
Het |
| Cyp2c39 |
A |
G |
19: 39,499,426 (GRCm39) |
I38V |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,821,978 (GRCm39) |
D312G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 30,993,505 (GRCm39) |
D2892G |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,823,676 (GRCm39) |
D566N |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Exd2 |
T |
A |
12: 80,536,427 (GRCm39) |
D352E |
probably benign |
Het |
| Fgf8 |
A |
T |
19: 45,725,676 (GRCm39) |
L187Q |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,672,009 (GRCm39) |
I36V |
probably benign |
Het |
| Gga2 |
A |
T |
7: 121,620,210 (GRCm39) |
|
probably null |
Het |
| Gigyf2 |
C |
G |
1: 87,334,735 (GRCm39) |
H249D |
unknown |
Het |
| Gli2 |
A |
T |
1: 118,763,900 (GRCm39) |
M1417K |
probably damaging |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm49380 |
A |
T |
9: 44,023,000 (GRCm39) |
I416N |
probably damaging |
Het |
| Gpr137 |
T |
C |
19: 6,919,480 (GRCm39) |
T16A |
unknown |
Het |
| Grm3 |
A |
G |
5: 9,562,272 (GRCm39) |
V526A |
probably benign |
Het |
| Havcr2 |
A |
T |
11: 46,370,118 (GRCm39) |
I231F |
probably damaging |
Het |
| Icam5 |
C |
A |
9: 20,944,514 (GRCm39) |
R72S |
probably benign |
Het |
| Ighv9-2 |
T |
A |
12: 114,072,764 (GRCm39) |
I70L |
possibly damaging |
Het |
| Inpp5e |
C |
T |
2: 26,286,865 (GRCm39) |
S119N |
|
Het |
| Kash5 |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
7: 44,837,608 (GRCm39) |
|
probably benign |
Het |
| Kash5 |
TCAGGC |
TCAGGCACAGGC |
7: 44,837,630 (GRCm39) |
|
probably benign |
Het |
| Kxd1 |
T |
A |
8: 70,966,791 (GRCm39) |
D110V |
possibly damaging |
Het |
| Mbd4 |
A |
G |
6: 115,821,594 (GRCm39) |
S474P |
probably damaging |
Het |
| Meaf6 |
C |
A |
4: 124,996,795 (GRCm39) |
H168Q |
unknown |
Het |
| Nek2 |
T |
C |
1: 191,558,457 (GRCm39) |
L254S |
probably damaging |
Het |
| Nhej1 |
T |
C |
1: 75,007,959 (GRCm39) |
D104G |
probably benign |
Het |
| Nmnat3 |
A |
G |
9: 98,292,271 (GRCm39) |
E172G |
probably benign |
Het |
| Npm3 |
A |
T |
19: 45,736,682 (GRCm39) |
D152E |
probably benign |
Het |
| Nsd1 |
A |
T |
13: 55,458,196 (GRCm39) |
K2103M |
probably damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,005,807 (GRCm39) |
R518H |
probably damaging |
Het |
| Nup210 |
T |
A |
6: 91,051,331 (GRCm39) |
T351S |
probably benign |
Het |
| Or10h5 |
T |
A |
17: 33,434,924 (GRCm39) |
R131S |
possibly damaging |
Het |
| Or9g19 |
A |
G |
2: 85,600,210 (GRCm39) |
I22V |
probably benign |
Het |
| Otof |
T |
A |
5: 30,619,142 (GRCm39) |
M1L |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,025,278 (GRCm39) |
Y477N |
probably damaging |
Het |
| Panx3 |
A |
G |
9: 37,572,966 (GRCm39) |
Y195H |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,692,151 (GRCm39) |
R178G |
probably damaging |
Het |
| Pde7a |
A |
G |
3: 19,314,429 (GRCm39) |
S56P |
possibly damaging |
Het |
| Prcp |
T |
G |
7: 92,577,906 (GRCm39) |
C392G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,597,315 (GRCm39) |
K2825R |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,029,918 (GRCm39) |
Y468* |
probably null |
Het |
| Rbmxl2 |
A |
G |
7: 106,809,429 (GRCm39) |
Y238C |
probably damaging |
Het |
| Scgb2b20 |
A |
T |
7: 33,065,724 (GRCm39) |
M1K |
probably null |
Het |
| Slc25a18 |
G |
A |
6: 120,769,452 (GRCm39) |
G237D |
probably damaging |
Het |
| Slc9a3 |
G |
A |
13: 74,305,763 (GRCm39) |
G260D |
probably damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,463,846 (GRCm39) |
S201R |
probably benign |
Het |
| Strip1 |
A |
C |
3: 107,525,394 (GRCm39) |
D547E |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,555,287 (GRCm39) |
C199Y |
|
Het |
| Top1mt |
A |
G |
15: 75,540,572 (GRCm39) |
V233A |
probably damaging |
Het |
| Tpp2 |
C |
G |
1: 44,014,628 (GRCm39) |
P656A |
possibly damaging |
Het |
| Ttc1 |
A |
T |
11: 43,628,806 (GRCm39) |
L193Q |
probably damaging |
Het |
| Ttll4 |
T |
A |
1: 74,735,632 (GRCm39) |
D1013E |
possibly damaging |
Het |
| Unc5a |
T |
C |
13: 55,144,299 (GRCm39) |
V208A |
possibly damaging |
Het |
| Vmn1r185 |
C |
A |
7: 26,310,558 (GRCm39) |
V316F |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,375 (GRCm39) |
V351E |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,751,043 (GRCm39) |
K2391* |
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,677,854 (GRCm39) |
V2968A |
possibly damaging |
Het |
| Zfp551 |
G |
A |
7: 12,152,487 (GRCm39) |
A82V |
possibly 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 |
|
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'- TTGCTCTGATGTCCTGGGAC -3'
(R):5'- CATGATGGACTCAGGTTTGTGC -3'
Sequencing Primer
(F):5'- GATGTCCTGGGACTACTAATGACTC -3'
(R):5'- TGCTTGAAAGTTCTCTATGAGTCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation