Incidental Mutation 'R1606:Grid1'
| ID |
176507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grid1
|
| Ensembl Gene |
ENSMUSG00000041078 |
| Gene Name |
glutamate receptor, ionotropic, delta 1 |
| Synonyms |
GluRdelta1 |
| MMRRC Submission |
039643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1606 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35167922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 482
(Y482F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
| AlphaFold |
Q61627 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043349
AA Change: Y482F
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: Y482F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227253
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,825,091 (GRCm39) |
D1459G |
probably damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,623,698 (GRCm39) |
|
probably null |
Het |
| Adsl |
C |
T |
15: 80,836,425 (GRCm39) |
Q61* |
probably null |
Het |
| Arhgap26 |
T |
A |
18: 39,429,925 (GRCm39) |
C214S |
probably damaging |
Het |
| Armc8 |
A |
T |
9: 99,419,782 (GRCm39) |
N9K |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,242,375 (GRCm39) |
D975G |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,368,412 (GRCm39) |
E187G |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 36,996,548 (GRCm39) |
D1087N |
probably damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,959,710 (GRCm39) |
S42P |
probably damaging |
Het |
| Chek1 |
A |
G |
9: 36,630,820 (GRCm39) |
L198P |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,317,406 (GRCm39) |
V423A |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,492,511 (GRCm39) |
S696P |
probably benign |
Het |
| Echdc3 |
A |
T |
2: 6,200,438 (GRCm39) |
C183S |
possibly damaging |
Het |
| Exph5 |
A |
C |
9: 53,285,595 (GRCm39) |
D892A |
probably benign |
Het |
| Fam120b |
T |
A |
17: 15,622,073 (GRCm39) |
I17K |
possibly damaging |
Het |
| Fbln5 |
C |
T |
12: 101,731,457 (GRCm39) |
D246N |
probably benign |
Het |
| Fbxo15 |
A |
C |
18: 84,980,745 (GRCm39) |
K195T |
possibly damaging |
Het |
| Fzd1 |
C |
A |
5: 4,807,514 (GRCm39) |
E23* |
probably null |
Het |
| Gas2l1 |
C |
A |
11: 5,014,434 (GRCm39) |
A9S |
probably damaging |
Het |
| Gcc2 |
C |
T |
10: 58,105,270 (GRCm39) |
L69F |
probably damaging |
Het |
| Ggt6 |
C |
T |
11: 72,328,559 (GRCm39) |
A353V |
possibly damaging |
Het |
| Gphn |
T |
A |
12: 78,730,657 (GRCm39) |
V764E |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Ifit1bl1 |
C |
T |
19: 34,571,444 (GRCm39) |
V338M |
probably benign |
Het |
| Klhl14 |
T |
A |
18: 21,698,589 (GRCm39) |
Q408L |
possibly damaging |
Het |
| Lacc1 |
T |
A |
14: 77,267,081 (GRCm39) |
Q394L |
probably benign |
Het |
| Lcor |
T |
G |
19: 41,573,513 (GRCm39) |
M756R |
probably benign |
Het |
| Lipe |
A |
G |
7: 25,087,569 (GRCm39) |
F477L |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,387,423 (GRCm39) |
|
probably null |
Het |
| Megf8 |
T |
A |
7: 25,058,120 (GRCm39) |
H2131Q |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,577,310 (GRCm39) |
D1097G |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,366,078 (GRCm39) |
Y138* |
probably null |
Het |
| Nudcd2 |
T |
A |
11: 40,626,834 (GRCm39) |
|
probably null |
Het |
| Numb |
T |
C |
12: 83,847,784 (GRCm39) |
|
probably null |
Het |
| Or7h8 |
T |
G |
9: 20,124,242 (GRCm39) |
L199R |
probably benign |
Het |
| Pacrg |
G |
A |
17: 11,058,725 (GRCm39) |
Q11* |
probably null |
Het |
| Ppp1r37 |
A |
T |
7: 19,268,924 (GRCm39) |
M192K |
probably damaging |
Het |
| Prmt8 |
T |
A |
6: 127,666,799 (GRCm39) |
K392* |
probably null |
Het |
| Rab28 |
A |
T |
5: 41,855,795 (GRCm39) |
W67R |
probably damaging |
Het |
| Rad21l |
C |
T |
2: 151,496,606 (GRCm39) |
C365Y |
probably damaging |
Het |
| Rbm17 |
A |
T |
2: 11,600,208 (GRCm39) |
F147I |
probably benign |
Het |
| Rbm46 |
A |
C |
3: 82,771,848 (GRCm39) |
F256V |
probably damaging |
Het |
| Rcc1 |
A |
T |
4: 132,062,087 (GRCm39) |
|
probably null |
Het |
| Rnf217 |
G |
T |
10: 31,410,807 (GRCm39) |
T296N |
possibly damaging |
Het |
| Rnmt |
A |
G |
18: 68,444,724 (GRCm39) |
D231G |
possibly damaging |
Het |
| Rph3al |
C |
T |
11: 75,797,367 (GRCm39) |
V110I |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,983,362 (GRCm39) |
M289T |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,605,721 (GRCm39) |
R890G |
probably benign |
Het |
| Sf3b2 |
A |
T |
19: 5,338,026 (GRCm39) |
D245E |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,246,398 (GRCm39) |
V238E |
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,857,455 (GRCm39) |
D896V |
possibly damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,135,323 (GRCm39) |
K330* |
probably null |
Het |
| Slco1a4 |
G |
T |
6: 141,785,337 (GRCm39) |
H84Q |
probably damaging |
Het |
| Sptbn2 |
G |
T |
19: 4,800,270 (GRCm39) |
|
probably null |
Het |
| St6galnac3 |
A |
T |
3: 152,912,305 (GRCm39) |
D227E |
probably benign |
Het |
| Tek |
G |
A |
4: 94,738,004 (GRCm39) |
D685N |
probably damaging |
Het |
| Trf |
G |
T |
9: 103,102,335 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
T |
A |
7: 142,638,908 (GRCm39) |
K288* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,567,356 (GRCm39) |
V27846I |
probably damaging |
Het |
| Tyr |
A |
T |
7: 87,087,179 (GRCm39) |
D444E |
probably benign |
Het |
| Ucp1 |
C |
A |
8: 84,021,933 (GRCm39) |
A255E |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,491,963 (GRCm39) |
D3084G |
probably benign |
Het |
| Yeats4 |
T |
C |
10: 117,053,344 (GRCm39) |
Y139C |
probably damaging |
Het |
| Zbtb6 |
A |
G |
2: 37,319,130 (GRCm39) |
V266A |
probably benign |
Het |
| Zfp784 |
A |
T |
7: 5,038,774 (GRCm39) |
N261K |
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 |
|
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 |
PCR Primer
(F):5'- AATGGCAGAGGAGTTCAGCCTTG -3'
(R):5'- TTATAGTGGGTACGCTCCAACGGG -3'
Sequencing Primer
(F):5'- atgctaaacatttgcttttccac -3'
(R):5'- CGCTCCAACGGGATGAATAATG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation