Incidental Mutation 'R1144:Grid1'
| ID |
102313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grid1
|
| Ensembl Gene |
ENSMUSG00000041078 |
| Gene Name |
glutamate receptor, ionotropic, delta 1 |
| Synonyms |
GluRdelta1 |
| MMRRC Submission |
039217-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1144 (G1)
|
| Quality Score |
189 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 35284633 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
C |
T |
7: 119,960,083 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,241,188 (GRCm39) |
|
probably benign |
Het |
| Acsl5 |
A |
C |
19: 55,280,275 (GRCm39) |
D516A |
probably damaging |
Het |
| Adcy1 |
G |
A |
11: 7,087,400 (GRCm39) |
A425T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,818,475 (GRCm39) |
T107A |
probably benign |
Het |
| Arhgef33 |
T |
C |
17: 80,662,473 (GRCm39) |
S219P |
probably benign |
Het |
| Atm |
T |
G |
9: 53,422,998 (GRCm39) |
|
probably benign |
Het |
| C1ql2 |
A |
C |
1: 120,270,266 (GRCm39) |
Y276S |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,527,595 (GRCm39) |
|
probably null |
Het |
| Cmbl |
A |
G |
15: 31,582,020 (GRCm39) |
N6D |
probably benign |
Het |
| Cntn3 |
A |
G |
6: 102,219,087 (GRCm39) |
V511A |
possibly damaging |
Het |
| Coq9 |
C |
A |
8: 95,569,251 (GRCm39) |
R28S |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,460,922 (GRCm39) |
F20S |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,623,764 (GRCm39) |
K404E |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,052,131 (GRCm39) |
I244K |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,362,238 (GRCm39) |
E3700K |
probably damaging |
Het |
| Dnmt3l |
T |
A |
10: 77,887,739 (GRCm39) |
C110S |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr1 |
T |
G |
8: 26,048,159 (GRCm39) |
V172G |
probably damaging |
Het |
| Frem3 |
C |
A |
8: 81,338,513 (GRCm39) |
Q269K |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,923,942 (GRCm39) |
H67N |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,341,929 (GRCm39) |
T1532A |
possibly damaging |
Het |
| Git2 |
G |
T |
5: 114,891,375 (GRCm39) |
S243R |
probably benign |
Het |
| Grp |
A |
G |
18: 66,013,041 (GRCm39) |
D69G |
probably damaging |
Het |
| Hmbox1 |
A |
T |
14: 65,063,132 (GRCm39) |
L347Q |
probably damaging |
Het |
| Hsh2d |
C |
T |
8: 72,947,436 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,333,897 (GRCm39) |
S2018N |
probably benign |
Het |
| Kif13b |
T |
A |
14: 64,951,566 (GRCm39) |
V69D |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lmcd1 |
T |
A |
6: 112,287,712 (GRCm39) |
|
probably benign |
Het |
| Megf9 |
C |
A |
4: 70,452,861 (GRCm39) |
A67S |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,758,658 (GRCm39) |
R213H |
probably damaging |
Het |
| Myo5c |
T |
A |
9: 75,193,730 (GRCm39) |
Y1162N |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,181,103 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
G |
A |
3: 87,688,849 (GRCm39) |
T568I |
probably damaging |
Het |
| Pcmtd1 |
A |
G |
1: 7,190,705 (GRCm39) |
H58R |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,590,695 (GRCm39) |
D74G |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,174,091 (GRCm39) |
I1168N |
possibly damaging |
Het |
| Ppm1h |
A |
G |
10: 122,777,183 (GRCm39) |
D483G |
probably benign |
Het |
| Prdm15 |
G |
A |
16: 97,609,908 (GRCm39) |
R579C |
probably damaging |
Het |
| Prickle1 |
T |
A |
15: 93,410,342 (GRCm39) |
R41W |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,261,081 (GRCm39) |
D235G |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,772,638 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
C |
1: 93,208,298 (GRCm39) |
G785R |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,123,288 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,013,298 (GRCm39) |
F2830I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,963,200 (GRCm39) |
D304G |
possibly damaging |
Het |
| Thsd7a |
G |
A |
6: 12,471,026 (GRCm39) |
|
probably benign |
Het |
| Tmem63b |
T |
A |
17: 45,977,353 (GRCm39) |
K383N |
probably benign |
Het |
| Trp53rka |
C |
A |
2: 165,334,961 (GRCm39) |
|
probably benign |
Het |
| Trub1 |
G |
A |
19: 57,473,563 (GRCm39) |
V207M |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,690,886 (GRCm39) |
C551S |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,573,206 (GRCm39) |
|
probably null |
Het |
| Vmn1r219 |
C |
A |
13: 23,347,383 (GRCm39) |
Q191K |
probably damaging |
Het |
| Vmn2r1 |
A |
T |
3: 63,997,541 (GRCm39) |
D399V |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,312,098 (GRCm39) |
|
probably benign |
Het |
| Wars1 |
A |
T |
12: 108,854,291 (GRCm39) |
L41* |
probably null |
Het |
| Washc2 |
G |
A |
6: 116,201,495 (GRCm39) |
E64K |
probably damaging |
Het |
| Washc4 |
G |
A |
10: 83,416,194 (GRCm39) |
R828Q |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,213,576 (GRCm39) |
M313K |
probably benign |
Het |
| Wscd2 |
G |
A |
5: 113,699,151 (GRCm39) |
|
probably null |
Het |
| Zdhhc20 |
A |
C |
14: 58,094,135 (GRCm39) |
L176V |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation