Incidental Mutation 'IGL03307:Grik3'
| ID |
416423 |
| 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 # |
IGL03307
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
125384493-125607966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125535347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 248
(M248T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030676]
|
| AlphaFold |
B1AS29 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030676
AA Change: M248T
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: M248T
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
C |
12: 88,425,823 (GRCm39) |
I417T |
possibly damaging |
Het |
| Arrdc1 |
A |
T |
2: 24,816,354 (GRCm39) |
I205N |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,931,922 (GRCm39) |
V122A |
possibly damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,253,321 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,226,872 (GRCm39) |
H111R |
probably damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,346,715 (GRCm39) |
I196N |
possibly damaging |
Het |
| Cyp2b9 |
C |
T |
7: 25,898,476 (GRCm39) |
S277L |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,028,872 (GRCm39) |
*145W |
probably null |
Het |
| Il18rap |
T |
C |
1: 40,582,227 (GRCm39) |
Y383H |
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,893,379 (GRCm39) |
V162A |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,155 (GRCm39) |
M308L |
probably benign |
Het |
| Or52s1b |
C |
T |
7: 102,822,623 (GRCm39) |
V74I |
probably benign |
Het |
| Or8g27 |
A |
T |
9: 39,129,309 (GRCm39) |
I219F |
probably benign |
Het |
| Postn |
A |
G |
3: 54,282,548 (GRCm39) |
D503G |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,333,860 (GRCm39) |
V658D |
probably damaging |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Setd1b |
C |
A |
5: 123,286,734 (GRCm39) |
D593E |
unknown |
Het |
| Slc2a13 |
C |
T |
15: 91,160,317 (GRCm39) |
V546M |
probably damaging |
Het |
| Spock1 |
T |
C |
13: 57,577,160 (GRCm39) |
D423G |
probably null |
Het |
| Stox2 |
T |
C |
8: 47,647,065 (GRCm39) |
T132A |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,426,074 (GRCm39) |
S703P |
probably damaging |
Het |
| Trgc1 |
A |
G |
13: 19,398,528 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,580,304 (GRCm39) |
I750T |
possibly damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,577,038 (GRCm39) |
K345N |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,765,971 (GRCm39) |
V26A |
probably benign |
Het |
| Vmn2r98 |
G |
A |
17: 19,286,242 (GRCm39) |
V247I |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,472,287 (GRCm39) |
V153A |
probably 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 |
|
IGL02276:Grik3
|
APN |
4 |
125,517,295 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation