Incidental Mutation 'R4694:Grid1'
| ID |
355579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grid1
|
| Ensembl Gene |
ENSMUSG00000041078 |
| Gene Name |
glutamate receptor, ionotropic, delta 1 |
| Synonyms |
GluRdelta1 |
| MMRRC Submission |
041945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4694 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34748737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 186
(S186P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
| AlphaFold |
Q61627 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043349
AA Change: S186P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: S186P
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,979,586 (GRCm39) |
F258Y |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,587,055 (GRCm39) |
R765H |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,311,051 (GRCm39) |
L42Q |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,313,012 (GRCm39) |
|
probably null |
Het |
| Capn1 |
T |
A |
19: 6,044,761 (GRCm39) |
K504* |
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,804,332 (GRCm39) |
K917R |
probably damaging |
Het |
| Cp |
A |
T |
3: 20,029,049 (GRCm39) |
T509S |
probably benign |
Het |
| Cyp2d10 |
T |
C |
15: 82,288,684 (GRCm39) |
D266G |
probably damaging |
Het |
| Dhodh |
C |
G |
8: 110,333,048 (GRCm39) |
R7P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,354,189 (GRCm39) |
L419P |
probably benign |
Het |
| Epb41l4b |
A |
T |
4: 57,019,875 (GRCm39) |
M84K |
probably benign |
Het |
| Fbln7 |
A |
G |
2: 128,722,345 (GRCm39) |
|
probably null |
Het |
| Fbxw11 |
C |
T |
11: 32,592,820 (GRCm39) |
|
probably benign |
Het |
| Flnc |
C |
A |
6: 29,443,447 (GRCm39) |
P543T |
probably damaging |
Het |
| Hcfc2 |
C |
T |
10: 82,559,534 (GRCm39) |
T382M |
probably damaging |
Het |
| Hdac9 |
G |
T |
12: 34,487,246 (GRCm39) |
L73I |
probably damaging |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,441,163 (GRCm39) |
D302E |
probably damaging |
Het |
| Ifi204 |
C |
T |
1: 173,576,825 (GRCm39) |
C592Y |
probably damaging |
Het |
| Jph1 |
T |
A |
1: 17,067,729 (GRCm39) |
I653F |
probably damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,484,918 (GRCm39) |
K339E |
probably benign |
Het |
| Kcp |
G |
A |
6: 29,493,196 (GRCm39) |
T838I |
probably benign |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,108 (GRCm39) |
V171E |
possibly damaging |
Het |
| Lck |
G |
T |
4: 129,442,765 (GRCm39) |
N452K |
possibly damaging |
Het |
| Madd |
A |
G |
2: 90,990,673 (GRCm39) |
L1134S |
probably damaging |
Het |
| Mafk |
T |
C |
5: 139,786,248 (GRCm39) |
S149P |
probably damaging |
Het |
| Man1c1 |
T |
C |
4: 134,430,500 (GRCm39) |
D94G |
probably benign |
Het |
| Me2 |
T |
A |
18: 73,934,930 (GRCm39) |
M38L |
probably benign |
Het |
| Muc2 |
A |
C |
7: 141,306,082 (GRCm39) |
D257A |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,018,566 (GRCm39) |
K1927E |
probably damaging |
Het |
| Naaladl1 |
C |
T |
19: 6,158,920 (GRCm39) |
P324S |
probably damaging |
Het |
| Ndufa10 |
T |
C |
1: 92,379,824 (GRCm39) |
E303G |
probably benign |
Het |
| Nedd1 |
C |
T |
10: 92,555,444 (GRCm39) |
V14I |
probably benign |
Het |
| Nwd1 |
T |
G |
8: 73,393,958 (GRCm39) |
V407G |
probably damaging |
Het |
| Or2h15 |
A |
C |
17: 38,441,748 (GRCm39) |
C112G |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,968,593 (GRCm39) |
K297* |
probably null |
Het |
| Or4k15c |
T |
C |
14: 50,321,476 (GRCm39) |
I221V |
probably benign |
Het |
| Or5w13 |
T |
A |
2: 87,524,104 (GRCm39) |
T41S |
probably benign |
Het |
| Or7g29 |
A |
G |
9: 19,286,694 (GRCm39) |
L161P |
probably damaging |
Het |
| Pgrmc2 |
T |
C |
3: 41,024,840 (GRCm39) |
D144G |
probably damaging |
Het |
| Ppp3cb |
T |
C |
14: 20,551,583 (GRCm39) |
N516S |
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,579,530 (GRCm39) |
S372P |
probably damaging |
Het |
| Prelp |
A |
G |
1: 133,842,485 (GRCm39) |
M220T |
probably damaging |
Het |
| Prss36 |
A |
G |
7: 127,534,787 (GRCm39) |
W465R |
probably damaging |
Het |
| Pth2r |
C |
A |
1: 65,375,920 (GRCm39) |
F59L |
probably benign |
Het |
| Rab20 |
C |
T |
8: 11,504,485 (GRCm39) |
G72R |
probably damaging |
Het |
| Rab4a |
G |
T |
8: 124,555,769 (GRCm39) |
G49W |
probably damaging |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
| Rock1 |
A |
T |
18: 10,136,152 (GRCm39) |
Y178* |
probably null |
Het |
| Scaf8 |
C |
A |
17: 3,247,679 (GRCm39) |
L1001I |
probably damaging |
Het |
| Sema3b |
G |
A |
9: 107,482,201 (GRCm39) |
P26S |
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,752,633 (GRCm39) |
L548P |
probably damaging |
Het |
| Sncaip |
A |
C |
18: 53,039,629 (GRCm39) |
T548P |
probably benign |
Het |
| Stpg2 |
C |
T |
3: 139,023,177 (GRCm39) |
P398S |
possibly damaging |
Het |
| Stpg3 |
A |
C |
2: 25,103,309 (GRCm39) |
V260G |
probably damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,960,875 (GRCm39) |
F242I |
probably damaging |
Het |
| Tnks1bp1 |
G |
A |
2: 84,902,066 (GRCm39) |
R992Q |
probably damaging |
Het |
| Tom1l1 |
T |
G |
11: 90,537,675 (GRCm39) |
H394P |
possibly damaging |
Het |
| Topors |
T |
G |
4: 40,261,442 (GRCm39) |
N614T |
possibly damaging |
Het |
| Trank1 |
A |
T |
9: 111,221,129 (GRCm39) |
Q2622L |
probably benign |
Het |
| Trub2 |
A |
G |
2: 29,668,858 (GRCm39) |
S186P |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,479,636 (GRCm39) |
H1756L |
probably benign |
Het |
| Vmn1r9 |
A |
T |
6: 57,048,314 (GRCm39) |
I130F |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,086,837 (GRCm39) |
I602F |
probably damaging |
Het |
| Zfand3 |
T |
A |
17: 30,354,362 (GRCm39) |
F60I |
possibly damaging |
Het |
| Zfp946 |
G |
A |
17: 22,674,692 (GRCm39) |
G482E |
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 |
|
|
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 |
PCR Primer
(F):5'- ATCCTGGGGCTGGATACTGATG -3'
(R):5'- CATTGATGAAGGAGTGCGCC -3'
Sequencing Primer
(F):5'- GCACCATGCTCTGAATAAGTG -3'
(R):5'- AAGGAGTGCGCCCCCTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation