Incidental Mutation 'IGL02276:Grik3'
| ID |
287333 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Grik3
|
| Ensembl Gene |
ENSMUSG00000001985 |
| Gene Name |
glutamate receptor, ionotropic, kainate 3 |
| Synonyms |
Glur7, Glur-7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
IGL02276
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
125384493-125607966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125517295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 46
(D46V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030676]
|
| AlphaFold |
B1AS29 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030676
AA Change: D46V
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: D46V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
55 |
398 |
7.8e-72 |
PFAM |
|
PBPe
|
435 |
802 |
4.38e-133 |
SMART |
|
Lig_chan-Glu_bd
|
445 |
509 |
5.77e-34 |
SMART |
|
transmembrane domain
|
823 |
845 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. Transcript variants encoding different isoforms have been described for this gene, however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significantly reduced short- and long-term synaptic potentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,386,697 (GRCm39) |
V1140A |
probably damaging |
Het |
| Ccdc88b |
A |
G |
19: 6,833,475 (GRCm39) |
|
probably null |
Het |
| Cep135 |
A |
G |
5: 76,782,093 (GRCm39) |
N904S |
probably benign |
Het |
| Dnajc12 |
G |
A |
10: 63,244,037 (GRCm39) |
R109Q |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,187,295 (GRCm39) |
|
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,124,566 (GRCm39) |
N380K |
probably benign |
Het |
| Dusp11 |
A |
T |
6: 85,935,599 (GRCm39) |
D91E |
probably damaging |
Het |
| Fkbp15 |
C |
A |
4: 62,254,703 (GRCm39) |
E266* |
probably null |
Het |
| Gm10337 |
A |
G |
15: 102,412,169 (GRCm39) |
V324A |
probably damaging |
Het |
| Hdac9 |
G |
A |
12: 34,481,925 (GRCm39) |
T181I |
probably damaging |
Het |
| Iigp1c |
A |
T |
18: 60,379,151 (GRCm39) |
I229F |
probably damaging |
Het |
| Large1 |
T |
A |
8: 73,544,721 (GRCm39) |
M686L |
probably benign |
Het |
| Lca5 |
C |
A |
9: 83,280,638 (GRCm39) |
L387F |
possibly damaging |
Het |
| Mtmr9 |
A |
T |
14: 63,767,725 (GRCm39) |
W295R |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
| Or5ac15 |
A |
C |
16: 58,940,378 (GRCm39) |
D18E |
probably benign |
Het |
| Phf20l1 |
T |
A |
15: 66,487,259 (GRCm39) |
|
probably null |
Het |
| Plce1 |
A |
G |
19: 38,513,201 (GRCm39) |
S167G |
probably benign |
Het |
| Plekha6 |
C |
A |
1: 133,221,599 (GRCm39) |
D934E |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,695,306 (GRCm39) |
S2G |
possibly damaging |
Het |
| Ptpn6 |
A |
C |
6: 124,705,828 (GRCm39) |
D105E |
probably null |
Het |
| Rtp1 |
T |
C |
16: 23,250,063 (GRCm39) |
S143P |
probably benign |
Het |
| Rttn |
A |
C |
18: 89,066,578 (GRCm39) |
Q1208P |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,438,686 (GRCm39) |
V183D |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,210,712 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,280,734 (GRCm39) |
E271D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,226 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
G |
A |
3: 64,313,877 (GRCm39) |
T279I |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,980 (GRCm39) |
|
probably null |
Het |
| Zfp819 |
G |
A |
7: 43,261,428 (GRCm39) |
V32I |
possibly damaging |
Het |
|
| Other mutations in Grik3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Grik3
|
APN |
4 |
125,526,208 (GRCm39) |
missense |
probably benign |
|
|
IGL01534:Grik3
|
APN |
4 |
125,579,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Grik3
|
APN |
4 |
125,587,829 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02323:Grik3
|
APN |
4 |
125,579,783 (GRCm39) |
splice site |
probably benign |
|
|
IGL02475:Grik3
|
APN |
4 |
125,544,310 (GRCm39) |
missense |
probably benign |
|
|
IGL03198:Grik3
|
APN |
4 |
125,553,555 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03307:Grik3
|
APN |
4 |
125,535,347 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0054:Grik3
|
UTSW |
4 |
125,517,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Grik3
|
UTSW |
4 |
125,517,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Grik3
|
UTSW |
4 |
125,564,349 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0208:Grik3
|
UTSW |
4 |
125,579,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Grik3
|
UTSW |
4 |
125,517,303 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1295:Grik3
|
UTSW |
4 |
125,598,357 (GRCm39) |
splice site |
probably benign |
|
|
R1296:Grik3
|
UTSW |
4 |
125,598,357 (GRCm39) |
splice site |
probably benign |
|
|
R1515:Grik3
|
UTSW |
4 |
125,564,521 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1559:Grik3
|
UTSW |
4 |
125,601,790 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1617:Grik3
|
UTSW |
4 |
125,584,985 (GRCm39) |
missense |
probably benign |
|
|
R1848:Grik3
|
UTSW |
4 |
125,587,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2903:Grik3
|
UTSW |
4 |
125,564,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3440:Grik3
|
UTSW |
4 |
125,587,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3440:Grik3
|
UTSW |
4 |
125,587,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3442:Grik3
|
UTSW |
4 |
125,587,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3442:Grik3
|
UTSW |
4 |
125,587,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3842:Grik3
|
UTSW |
4 |
125,587,747 (GRCm39) |
splice site |
probably benign |
|
|
R4649:Grik3
|
UTSW |
4 |
125,544,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Grik3
|
UTSW |
4 |
125,584,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Grik3
|
UTSW |
4 |
125,584,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Grik3
|
UTSW |
4 |
125,564,382 (GRCm39) |
missense |
probably benign |
|
|
R5318:Grik3
|
UTSW |
4 |
125,587,929 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5549:Grik3
|
UTSW |
4 |
125,579,838 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6221:Grik3
|
UTSW |
4 |
125,598,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6226:Grik3
|
UTSW |
4 |
125,553,582 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6306:Grik3
|
UTSW |
4 |
125,526,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6672:Grik3
|
UTSW |
4 |
125,517,309 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6682:Grik3
|
UTSW |
4 |
125,544,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Grik3
|
UTSW |
4 |
125,526,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7390:Grik3
|
UTSW |
4 |
125,543,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Grik3
|
UTSW |
4 |
125,517,428 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7790:Grik3
|
UTSW |
4 |
125,579,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Grik3
|
UTSW |
4 |
125,550,190 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7952:Grik3
|
UTSW |
4 |
125,598,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Grik3
|
UTSW |
4 |
125,579,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8769:Grik3
|
UTSW |
4 |
125,550,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Grik3
|
UTSW |
4 |
125,526,185 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9243:Grik3
|
UTSW |
4 |
125,601,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9792:Grik3
|
UTSW |
4 |
125,526,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9793:Grik3
|
UTSW |
4 |
125,526,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Grik3
|
UTSW |
4 |
125,544,299 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-04-16 |
Incidental Mutation