Incidental Mutation 'R6176:Grid1'
ID |
487782 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grid1
|
Ensembl Gene |
ENSMUSG00000041078 |
Gene Name |
glutamate receptor, ionotropic, delta 1 |
Synonyms |
GluRdelta1 |
MMRRC Submission |
044318-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6176 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 35284504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 749
(A749E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
AlphaFold |
Q61627 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043349
AA Change: A749E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000044009 Gene: ENSMUSG00000041078 AA Change: A749E
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 |
0.1106 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
97% (60/62) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
T |
C |
4: 63,295,969 (GRCm39) |
Q966R |
probably benign |
Het |
Amn |
A |
G |
12: 111,240,590 (GRCm39) |
D74G |
possibly damaging |
Het |
Ank2 |
T |
A |
3: 126,739,120 (GRCm39) |
T2255S |
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
Apaf1 |
A |
G |
10: 90,895,433 (GRCm39) |
|
probably null |
Het |
Asl |
T |
A |
5: 130,047,720 (GRCm39) |
H82L |
probably benign |
Het |
Atrn |
A |
G |
2: 130,788,011 (GRCm39) |
E271G |
probably benign |
Het |
B4galnt3 |
A |
G |
6: 120,201,125 (GRCm39) |
F184S |
probably damaging |
Het |
C1s2 |
T |
A |
6: 124,602,768 (GRCm39) |
H481L |
probably damaging |
Het |
Cav2 |
A |
G |
6: 17,286,918 (GRCm39) |
D58G |
possibly damaging |
Het |
Cc2d2a |
A |
T |
5: 43,866,455 (GRCm39) |
H755L |
probably benign |
Het |
Ccdc65 |
A |
G |
15: 98,606,433 (GRCm39) |
|
probably null |
Het |
Celsr3 |
A |
T |
9: 108,705,554 (GRCm39) |
Y679F |
probably damaging |
Het |
Cep135 |
A |
T |
5: 76,772,490 (GRCm39) |
Y625F |
probably benign |
Het |
Cfhr1 |
A |
G |
1: 139,478,654 (GRCm39) |
S58P |
probably damaging |
Het |
Clip4 |
T |
A |
17: 72,113,628 (GRCm39) |
C259* |
probably null |
Het |
Cyp2j12 |
T |
A |
4: 96,029,074 (GRCm39) |
Q69L |
probably damaging |
Het |
Dock3 |
G |
A |
9: 106,790,147 (GRCm39) |
T1484I |
probably benign |
Het |
Ecscr |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
18: 35,849,813 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,683,383 (GRCm39) |
I1604F |
probably benign |
Het |
Fam43b |
T |
C |
4: 138,122,522 (GRCm39) |
D266G |
probably damaging |
Het |
Fbxl13 |
T |
A |
5: 21,705,498 (GRCm39) |
I618F |
possibly damaging |
Het |
Gne |
C |
T |
4: 44,053,019 (GRCm39) |
|
probably benign |
Het |
Gnpat |
T |
A |
8: 125,605,593 (GRCm39) |
V321E |
probably damaging |
Het |
Gpatch8 |
G |
A |
11: 102,378,350 (GRCm39) |
A200V |
unknown |
Het |
Grip2 |
C |
T |
6: 91,756,832 (GRCm39) |
V540I |
probably benign |
Het |
Ice2 |
C |
T |
9: 69,324,354 (GRCm39) |
T759M |
probably damaging |
Het |
Jrk |
G |
T |
15: 74,578,189 (GRCm39) |
N365K |
possibly damaging |
Het |
Kank4 |
A |
G |
4: 98,653,791 (GRCm39) |
I879T |
probably damaging |
Het |
Krtap20-1 |
T |
A |
16: 88,812,288 (GRCm39) |
Y24* |
probably null |
Het |
Lao1 |
T |
A |
4: 118,819,197 (GRCm39) |
M1K |
probably null |
Het |
Mlf1 |
A |
G |
3: 67,291,927 (GRCm39) |
R31G |
probably damaging |
Het |
Nt5c3b |
T |
C |
11: 100,330,974 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
A |
G |
2: 119,460,902 (GRCm39) |
R132G |
probably benign |
Het |
Or11g1 |
A |
G |
14: 50,651,847 (GRCm39) |
Y282C |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or5w20 |
G |
A |
2: 87,727,280 (GRCm39) |
V254I |
probably benign |
Het |
Or8d2b |
A |
C |
9: 38,788,673 (GRCm39) |
D67A |
probably damaging |
Het |
Paqr9 |
G |
T |
9: 95,442,828 (GRCm39) |
V273L |
possibly damaging |
Het |
Pcdha9 |
A |
T |
18: 37,131,984 (GRCm39) |
D351V |
probably benign |
Het |
Pcdhga1 |
A |
G |
18: 37,797,282 (GRCm39) |
D762G |
probably benign |
Het |
Pde3a |
T |
A |
6: 141,444,615 (GRCm39) |
L1141Q |
possibly damaging |
Het |
Pga5 |
T |
A |
19: 10,649,149 (GRCm39) |
|
probably null |
Het |
Phldb3 |
C |
A |
7: 24,326,127 (GRCm39) |
R570S |
probably damaging |
Het |
Slc22a6 |
A |
C |
19: 8,599,161 (GRCm39) |
E264A |
probably damaging |
Het |
Slc49a4 |
C |
T |
16: 35,525,167 (GRCm39) |
M426I |
probably benign |
Het |
Slit1 |
T |
C |
19: 41,626,034 (GRCm39) |
K576R |
probably damaging |
Het |
Sox21 |
T |
C |
14: 118,473,040 (GRCm39) |
K3R |
possibly damaging |
Het |
Stk32c |
A |
T |
7: 138,700,691 (GRCm39) |
D297E |
probably benign |
Het |
Suclg1 |
T |
C |
6: 73,252,326 (GRCm39) |
V323A |
probably damaging |
Het |
Tas1r2 |
T |
G |
4: 139,396,199 (GRCm39) |
C513G |
probably damaging |
Het |
Tbc1d23 |
A |
G |
16: 56,992,152 (GRCm39) |
Y603H |
probably damaging |
Het |
Tbc1d31 |
T |
C |
15: 57,816,192 (GRCm39) |
V642A |
probably damaging |
Het |
Tle2 |
A |
T |
10: 81,423,168 (GRCm39) |
D486V |
probably damaging |
Het |
Tmem232 |
A |
G |
17: 65,792,867 (GRCm39) |
I110T |
probably damaging |
Het |
Tmem39b |
A |
G |
4: 129,586,894 (GRCm39) |
Y106H |
probably damaging |
Het |
Trpm4 |
T |
G |
7: 44,976,100 (GRCm39) |
N229T |
probably damaging |
Het |
Tspo |
A |
G |
15: 83,458,007 (GRCm39) |
T120A |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,371,851 (GRCm39) |
A767T |
probably damaging |
Het |
Usp53 |
G |
A |
3: 122,727,652 (GRCm39) |
Q977* |
probably null |
Het |
Vmn1r215 |
T |
A |
13: 23,260,528 (GRCm39) |
D189E |
probably damaging |
Het |
Vmn2r12 |
T |
C |
5: 109,233,866 (GRCm39) |
Y782C |
probably benign |
Het |
Vmn2r54 |
A |
G |
7: 12,349,908 (GRCm39) |
L558P |
probably damaging |
Het |
Zfp268 |
T |
A |
4: 145,350,628 (GRCm39) |
C688* |
probably null |
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 |
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'- TACAGTGTGAGTAGGACCACATAG -3'
(R):5'- GCACATTGGTCCCTAGCTAG -3'
Sequencing Primer
(F):5'- GAGGAGTCCCCGGAACCTAATTATTG -3'
(R):5'- AATGGCTCTTATGTCATAGCAGGAG -3'
|
Posted On |
2017-10-10 |