Incidental Mutation 'R6911:Grid1'
| ID |
539045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grid1
|
| Ensembl Gene |
ENSMUSG00000041078 |
| Gene Name |
glutamate receptor, ionotropic, delta 1 |
| Synonyms |
GluRdelta1 |
| MMRRC Submission |
045003-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6911 (G1)
|
| Quality Score |
83.0076 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 34542185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
| AlphaFold |
Q61627 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043349
AA Change: M1L
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: M1L
| 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: 99.1%
- 20x: 97.1%
|
| Validation Efficiency |
98% (60/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,948,068 (GRCm39) |
M655K |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,078,146 (GRCm39) |
F693I |
probably benign |
Het |
| Amt |
G |
T |
9: 108,178,428 (GRCm39) |
|
probably null |
Het |
| Anapc7 |
A |
T |
5: 122,578,343 (GRCm39) |
K443* |
probably null |
Het |
| Apcs |
A |
G |
1: 172,721,752 (GRCm39) |
V198A |
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,056,008 (GRCm39) |
V271A |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,159,179 (GRCm39) |
I459N |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,912,411 (GRCm39) |
I555T |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,563,497 (GRCm39) |
E810G |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,199,009 (GRCm39) |
D101G |
probably damaging |
Het |
| Coq7 |
T |
A |
7: 118,109,385 (GRCm39) |
H221L |
unknown |
Het |
| Depdc5 |
A |
T |
5: 33,081,536 (GRCm39) |
Q566L |
probably damaging |
Het |
| Dync1i2 |
G |
A |
2: 71,077,446 (GRCm39) |
V233I |
probably benign |
Het |
| Erp44 |
G |
T |
4: 48,204,268 (GRCm39) |
H298N |
probably benign |
Het |
| Fam162a |
A |
G |
16: 35,866,747 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
A |
G |
6: 113,525,346 (GRCm39) |
E274G |
probably damaging |
Het |
| Fkbp15 |
G |
T |
4: 62,258,527 (GRCm39) |
Q147K |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,885,152 (GRCm39) |
|
probably null |
Het |
| Gfm1 |
T |
C |
3: 67,358,636 (GRCm39) |
V409A |
possibly damaging |
Het |
| Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Helz |
C |
T |
11: 107,510,051 (GRCm39) |
T558I |
probably benign |
Het |
| Htra4 |
A |
G |
8: 25,515,721 (GRCm39) |
V439A |
probably damaging |
Het |
| Kctd17 |
A |
G |
15: 78,318,206 (GRCm39) |
E95G |
probably damaging |
Het |
| Kif18b |
T |
C |
11: 102,807,206 (GRCm39) |
D43G |
probably damaging |
Het |
| Lrpprc |
G |
A |
17: 85,063,711 (GRCm39) |
S550L |
possibly damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,042,529 (GRCm39) |
C311* |
probably null |
Het |
| Mcoln2 |
C |
T |
3: 145,898,011 (GRCm39) |
T44I |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,893,723 (GRCm39) |
T2010A |
possibly damaging |
Het |
| Med23 |
C |
T |
10: 24,778,079 (GRCm39) |
T803M |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,357,716 (GRCm39) |
F290S |
probably damaging |
Het |
| Myh13 |
C |
T |
11: 67,245,753 (GRCm39) |
Q1095* |
probably null |
Het |
| Nktr |
C |
A |
9: 121,583,392 (GRCm39) |
Y93* |
probably null |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 59,007,029 (GRCm39) |
E210D |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,007,112 (GRCm39) |
A568E |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
| Or2y1g |
A |
G |
11: 49,171,634 (GRCm39) |
I220V |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,618 (GRCm39) |
T23A |
probably benign |
Het |
| Or5as1 |
T |
A |
2: 86,980,111 (GRCm39) |
K298I |
probably damaging |
Het |
| Pdlim5 |
T |
C |
3: 142,010,076 (GRCm39) |
I289V |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Per1 |
C |
T |
11: 68,994,083 (GRCm39) |
T443M |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,297,956 (GRCm39) |
V1774A |
probably damaging |
Het |
| Poteg |
A |
G |
8: 27,940,326 (GRCm39) |
Y165C |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,329,270 (GRCm39) |
T582A |
probably benign |
Het |
| Psma5 |
A |
G |
3: 108,172,464 (GRCm39) |
E60G |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr2 |
T |
C |
13: 11,842,445 (GRCm39) |
N484S |
possibly damaging |
Het |
| Sec31a |
A |
G |
5: 100,541,123 (GRCm39) |
I328T |
possibly damaging |
Het |
| Slc12a2 |
G |
T |
18: 58,052,541 (GRCm39) |
V787L |
probably benign |
Het |
| St14 |
C |
T |
9: 31,018,081 (GRCm39) |
R177Q |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tom1l1 |
G |
T |
11: 90,534,987 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,954,863 (GRCm39) |
R76G |
probably benign |
Het |
| Ube4a |
C |
T |
9: 44,854,056 (GRCm39) |
E581K |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,104 (GRCm39) |
V792A |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,208,819 (GRCm39) |
I430T |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,741,544 (GRCm39) |
K10E |
possibly damaging |
Het |
| Zfp451 |
T |
C |
1: 33,842,537 (GRCm39) |
|
probably benign |
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 |
|
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'- GGCTCAGACACATAGCCAG -3'
(R):5'- GCATCTCGACAAGGGTCTATC -3'
Sequencing Primer
(F):5'- ACATAGCCAGCCCGGAG -3'
(R):5'- CTAAGTGTCGGCAGAGGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation