Incidental Mutation 'R4794:Grid1'
| ID |
368876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grid1
|
| Ensembl Gene |
ENSMUSG00000041078 |
| Gene Name |
glutamate receptor, ionotropic, delta 1 |
| Synonyms |
GluRdelta1 |
| MMRRC Submission |
042420-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34544579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 50
(L50P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
| AlphaFold |
Q61627 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043349
AA Change: L50P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: L50P
| 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 |
|
| Meta Mutation Damage Score |
0.1335 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
97% (75/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,468,198 (GRCm39) |
I141K |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,459,978 (GRCm39) |
E537G |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,620,895 (GRCm39) |
A259V |
probably damaging |
Het |
| Bcar1 |
G |
A |
8: 112,447,552 (GRCm39) |
Q142* |
probably null |
Het |
| Bcas3 |
T |
C |
11: 85,400,294 (GRCm39) |
V200A |
probably damaging |
Het |
| Cd302 |
A |
T |
2: 60,102,493 (GRCm39) |
I42N |
probably benign |
Het |
| Colec12 |
C |
A |
18: 9,848,984 (GRCm39) |
N387K |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,946,888 (GRCm39) |
I1032N |
probably damaging |
Het |
| D630003M21Rik |
G |
C |
2: 158,038,059 (GRCm39) |
T1129S |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,171,420 (GRCm39) |
T916I |
possibly damaging |
Het |
| Dnajb13 |
C |
T |
7: 100,153,199 (GRCm39) |
A241T |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,862,300 (GRCm39) |
N397K |
possibly damaging |
Het |
| Eftud2 |
T |
A |
11: 102,761,003 (GRCm39) |
Y114F |
probably benign |
Het |
| Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,266,597 (GRCm39) |
D114G |
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,286,357 (GRCm39) |
|
probably null |
Het |
| Fam135a |
G |
A |
1: 24,068,241 (GRCm39) |
T706I |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,702,121 (GRCm39) |
V1845A |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,430,595 (GRCm39) |
E255G |
probably damaging |
Het |
| Galnt7 |
A |
T |
8: 57,998,397 (GRCm39) |
Y311N |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,475,933 (GRCm39) |
F331L |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 92,953,449 (GRCm39) |
Y1245C |
probably damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,806,707 (GRCm39) |
F1022L |
probably damaging |
Het |
| Med16 |
G |
T |
10: 79,735,951 (GRCm39) |
T399N |
probably damaging |
Het |
| Mfsd14a |
A |
T |
3: 116,439,155 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,465,186 (GRCm39) |
V681I |
probably benign |
Het |
| Ndc1 |
A |
G |
4: 107,247,419 (GRCm39) |
E409G |
probably benign |
Het |
| Necap2 |
A |
G |
4: 140,798,912 (GRCm39) |
|
probably benign |
Het |
| Or2a57 |
T |
A |
6: 43,212,629 (GRCm39) |
L29H |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,691 (GRCm39) |
M197K |
probably benign |
Het |
| Or7g29 |
C |
T |
9: 19,286,841 (GRCm39) |
S112N |
probably benign |
Het |
| Parp12 |
G |
A |
6: 39,094,744 (GRCm39) |
T117I |
probably benign |
Het |
| Pars2 |
C |
A |
4: 106,511,407 (GRCm39) |
C396* |
probably null |
Het |
| Prg4 |
A |
T |
1: 150,330,297 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
G |
A |
5: 99,114,492 (GRCm39) |
T523I |
probably damaging |
Het |
| Prph |
T |
A |
15: 98,955,308 (GRCm39) |
L425Q |
probably damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,567,552 (GRCm39) |
Y549H |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 155,937,489 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,549,183 (GRCm39) |
Y75C |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 16,990,408 (GRCm39) |
R110H |
probably damaging |
Het |
| Samd1 |
G |
A |
8: 84,726,346 (GRCm39) |
E468K |
probably damaging |
Het |
| Samd11 |
T |
A |
4: 156,333,922 (GRCm39) |
Q173L |
probably damaging |
Het |
| Scgb2b20 |
C |
A |
7: 33,065,151 (GRCm39) |
G37V |
probably damaging |
Het |
| Sf1 |
C |
A |
19: 6,425,694 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
T |
A |
9: 78,481,997 (GRCm39) |
H183L |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,713,288 (GRCm39) |
V31A |
probably benign |
Het |
| Smgc |
T |
A |
15: 91,725,657 (GRCm39) |
S13T |
probably benign |
Het |
| Snapin |
A |
G |
3: 90,398,092 (GRCm39) |
|
probably benign |
Het |
| Spata31e4 |
C |
G |
13: 50,857,275 (GRCm39) |
P971R |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,946,744 (GRCm39) |
P1033S |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,696,954 (GRCm39) |
E259G |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 56,072,932 (GRCm39) |
F238L |
possibly damaging |
Het |
| Tbck |
G |
A |
3: 132,392,729 (GRCm39) |
V57M |
possibly damaging |
Het |
| Tgm3 |
A |
G |
2: 129,883,875 (GRCm39) |
D511G |
probably benign |
Het |
| Tlr5 |
T |
C |
1: 182,801,461 (GRCm39) |
V241A |
probably benign |
Het |
| Tmem181c-ps |
A |
G |
17: 6,887,754 (GRCm39) |
|
noncoding transcript |
Het |
| Tnfrsf1a |
G |
A |
6: 125,335,047 (GRCm39) |
C168Y |
probably damaging |
Het |
| Tph2 |
G |
T |
10: 115,018,675 (GRCm39) |
L79I |
possibly damaging |
Het |
| Tsc1 |
G |
A |
2: 28,551,702 (GRCm39) |
|
probably null |
Het |
| Ttc14 |
A |
T |
3: 33,857,298 (GRCm39) |
M215L |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,802,083 (GRCm39) |
N120S |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,241,371 (GRCm39) |
W1728R |
probably damaging |
Het |
| Vnn1 |
A |
G |
10: 23,776,602 (GRCm39) |
T318A |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,235,610 (GRCm39) |
V941A |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,091,809 (GRCm39) |
V510A |
probably damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,693,188 (GRCm39) |
V272E |
possibly damaging |
Het |
| Xylt1 |
A |
C |
7: 117,236,862 (GRCm39) |
D537A |
probably benign |
Het |
| Zfp57 |
A |
G |
17: 37,321,022 (GRCm39) |
N292S |
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 |
|
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'- CAAAGTCTAGCTCAGTCCTCCC -3'
(R):5'- CATAGCAGCCAAGTAAGTGCC -3'
Sequencing Primer
(F):5'- AGTCCTCCCACCACGTG -3'
(R):5'- AGGCTCTGTACAACGGATTG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation