Incidental Mutation 'R8934:Grid1'
| ID |
680535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grid1
|
| Ensembl Gene |
ENSMUSG00000041078 |
| Gene Name |
glutamate receptor, ionotropic, delta 1 |
| Synonyms |
GluRdelta1 |
| MMRRC Submission |
068777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8934 (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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
| Abce1 |
A |
G |
8: 80,429,661 (GRCm39) |
Y87H |
probably damaging |
Het |
| Adad2 |
G |
A |
8: 120,341,535 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,300,015 (GRCm39) |
T901A |
probably damaging |
Het |
| Adamts18 |
T |
A |
8: 114,463,510 (GRCm39) |
I779F |
possibly damaging |
Het |
| Bod1l |
T |
C |
5: 41,976,944 (GRCm39) |
T1457A |
probably benign |
Het |
| Brat1 |
T |
C |
5: 140,696,004 (GRCm39) |
V125A |
probably benign |
Het |
| C4b |
G |
A |
17: 34,951,958 (GRCm39) |
R1296C |
possibly damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,402 (GRCm39) |
L206Q |
probably damaging |
Het |
| Cfap126 |
A |
G |
1: 170,953,690 (GRCm39) |
T87A |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,491,695 (GRCm39) |
N376K |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,731,786 (GRCm39) |
I120K |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,420,217 (GRCm39) |
E384G |
possibly damaging |
Het |
| Dipk1b |
G |
A |
2: 26,524,866 (GRCm39) |
V89M |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,450,288 (GRCm39) |
S634P |
possibly damaging |
Het |
| Dusp16 |
A |
T |
6: 134,718,639 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,913,738 (GRCm39) |
R185H |
probably damaging |
Het |
| Epdr1 |
T |
C |
13: 19,777,350 (GRCm39) |
E216G |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,698,101 (GRCm39) |
H86R |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,060,553 (GRCm39) |
W99R |
probably benign |
Het |
| Hjv |
T |
G |
3: 96,433,909 (GRCm39) |
C27G |
probably damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,469,469 (GRCm39) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,150,407 (GRCm39) |
*758W |
probably null |
Het |
| Il1rap |
T |
C |
16: 26,495,734 (GRCm39) |
C114R |
probably damaging |
Het |
| Irf6 |
T |
C |
1: 192,845,033 (GRCm39) |
I168T |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,759,767 (GRCm39) |
I1164V |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,021,168 (GRCm39) |
L915P |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,273,909 (GRCm39) |
|
probably benign |
Het |
| Lhx3 |
C |
A |
2: 26,092,258 (GRCm39) |
R211L |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,882,062 (GRCm39) |
|
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,334,386 (GRCm39) |
S1297P |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,306,852 (GRCm39) |
T232S |
probably benign |
Het |
| Nemp2 |
T |
A |
1: 52,688,868 (GRCm39) |
F377L |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,889,085 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
T |
A |
2: 90,112,356 (GRCm39) |
T188S |
probably benign |
Het |
| Or51ah3 |
T |
C |
7: 103,210,290 (GRCm39) |
V202A |
probably benign |
Het |
| Pgbd5 |
A |
C |
8: 125,110,998 (GRCm39) |
V231G |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,606,666 (GRCm39) |
L240P |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,462,234 (GRCm39) |
|
probably null |
Het |
| Ppp2r5a |
T |
A |
1: 191,100,835 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,345 (GRCm39) |
L462F |
possibly damaging |
Het |
| Prss30 |
C |
T |
17: 24,192,628 (GRCm39) |
C147Y |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,546,297 (GRCm39) |
V318M |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,599,730 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,303,219 (GRCm39) |
Q184R |
probably benign |
Het |
| Rufy1 |
T |
A |
11: 50,298,705 (GRCm39) |
Q362L |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,322,327 (GRCm39) |
K274E |
probably damaging |
Het |
| Shroom3 |
T |
A |
5: 93,089,584 (GRCm39) |
I778K |
probably damaging |
Het |
| Slamf6 |
C |
T |
1: 171,745,338 (GRCm39) |
L22F |
possibly damaging |
Het |
| St7l |
A |
G |
3: 104,796,634 (GRCm39) |
E249G |
probably damaging |
Het |
| Tmem237 |
T |
C |
1: 59,153,338 (GRCm39) |
N61S |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,038,416 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
G |
T |
11: 102,204,855 (GRCm39) |
P115T |
probably damaging |
Het |
| Vmn2r70 |
T |
A |
7: 85,211,188 (GRCm39) |
I508F |
possibly damaging |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp663 |
A |
T |
2: 165,194,714 (GRCm39) |
C502S |
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 |
|
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'- CTTGGATGAGCTGCTGAAAAC -3'
(R):5'- TTGTACCAACTAAGTGGGAGTGC -3'
Sequencing Primer
(F):5'- CTCACAGGACCAGGAAGATACTGTTG -3'
(R):5'- CAATAATGAGGGCCTTGTCTCCAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation