Incidental Mutation 'R7504:Grid1'
| ID |
581686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grid1
|
| Ensembl Gene |
ENSMUSG00000041078 |
| Gene Name |
glutamate receptor, ionotropic, delta 1 |
| Synonyms |
GluRdelta1 |
| MMRRC Submission |
045577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R7504 (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 T
at 35284470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 738
(A738S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
| AlphaFold |
Q61627 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043349
AA Change: A738S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: A738S
| 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 |
0.6368 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
G |
17: 15,163,915 (GRCm39) |
A14G |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,645,886 (GRCm39) |
M161K |
probably benign |
Het |
| Camkk2 |
G |
A |
5: 122,884,371 (GRCm39) |
T350I |
probably damaging |
Het |
| Cdc42bpg |
C |
A |
19: 6,356,814 (GRCm39) |
D23E |
possibly damaging |
Het |
| Cdkn1a |
T |
C |
17: 29,317,488 (GRCm39) |
L36P |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,241,511 (GRCm39) |
I351T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,098 (GRCm39) |
Y1816H |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,332,257 (GRCm39) |
N300K |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,339,066 (GRCm39) |
Y294H |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,521,999 (GRCm39) |
I198N |
probably damaging |
Het |
| Gsx2 |
G |
A |
5: 75,237,060 (GRCm39) |
|
probably null |
Het |
| Hc |
G |
A |
2: 34,951,331 (GRCm39) |
T22I |
not run |
Het |
| Hps1 |
T |
C |
19: 42,755,159 (GRCm39) |
D261G |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,825,338 (GRCm39) |
Y539C |
probably damaging |
Het |
| Insc |
G |
T |
7: 114,390,533 (GRCm39) |
|
probably null |
Het |
| Isg15 |
T |
C |
4: 156,284,502 (GRCm39) |
M9V |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,076,603 (GRCm39) |
L695P |
unknown |
Het |
| Nars1 |
A |
C |
18: 64,645,093 (GRCm39) |
F52V |
probably benign |
Het |
| Nmt1 |
T |
G |
11: 102,947,285 (GRCm39) |
F225V |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,096 (GRCm39) |
I130N |
probably damaging |
Het |
| Or7a36 |
A |
G |
10: 78,820,494 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Or8c8 |
A |
T |
9: 38,165,539 (GRCm39) |
K272N |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,065,936 (GRCm39) |
T385A |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,852 (GRCm39) |
T61S |
probably benign |
Het |
| Pramel40 |
G |
T |
5: 94,464,906 (GRCm39) |
V431L |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,981 (GRCm39) |
E606G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,061,514 (GRCm39) |
Y589H |
probably benign |
Het |
| Scara3 |
A |
G |
14: 66,168,780 (GRCm39) |
I279T |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,758,793 (GRCm39) |
Y477F |
possibly damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,600,091 (GRCm39) |
K415E |
probably benign |
Het |
| Stag1 |
C |
T |
9: 100,770,381 (GRCm39) |
T639I |
probably benign |
Het |
| Sv2b |
A |
T |
7: 74,786,131 (GRCm39) |
F430I |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,030,570 (GRCm39) |
C743Y |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,193,100 (GRCm39) |
V445L |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,631,696 (GRCm39) |
S652P |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,039,391 (GRCm39) |
D1155G |
possibly damaging |
Het |
| Traip |
T |
C |
9: 107,838,743 (GRCm39) |
I169T |
probably benign |
Het |
| Trmt9b |
A |
C |
8: 36,979,309 (GRCm39) |
N304T |
probably benign |
Het |
| Usp45 |
T |
G |
4: 21,816,892 (GRCm39) |
M374R |
possibly damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,104,166 (GRCm39) |
H263L |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,505,311 (GRCm39) |
V364A |
probably damaging |
Het |
| Zfp128 |
G |
A |
7: 12,624,405 (GRCm39) |
D258N |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,751,338 (GRCm39) |
T76I |
probably benign |
Het |
| Zfp688 |
C |
A |
7: 127,018,483 (GRCm39) |
C214F |
probably damaging |
Het |
| Zfp760 |
T |
C |
17: 21,941,655 (GRCm39) |
S277P |
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 |
|
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'- CCTGCTCTATGAACTGTAGATGG -3'
(R):5'- CTGCCAAGGCTGCTAGAAATG -3'
Sequencing Primer
(F):5'- CTAAGATGAATGGTTTCAATTGGTGG -3'
(R):5'- TGCCAAGGCTGCTAGAAATGATTTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation