Incidental Mutation 'IGL01135:Grik3'
ID |
50963 |
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 # |
IGL01135
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
125384493-125607966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 125526208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 147
(T147I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030676]
|
AlphaFold |
B1AS29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030676
AA Change: T147I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030676 Gene: ENSMUSG00000001985 AA Change: T147I
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
5730507C01Rik |
G |
A |
12: 18,583,375 (GRCm39) |
R145H |
possibly damaging |
Het |
Acox3 |
T |
A |
5: 35,746,096 (GRCm39) |
V93E |
probably benign |
Het |
Ankar |
T |
C |
1: 72,704,378 (GRCm39) |
N848S |
probably benign |
Het |
Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
Ceacam23 |
A |
T |
7: 17,636,396 (GRCm39) |
|
noncoding transcript |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Ckmt1 |
A |
C |
2: 121,191,631 (GRCm39) |
D267A |
probably damaging |
Het |
Dtl |
G |
T |
1: 191,280,442 (GRCm39) |
T364K |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,477,877 (GRCm39) |
F2308I |
probably damaging |
Het |
Fbxo41 |
A |
T |
6: 85,454,890 (GRCm39) |
S673T |
probably benign |
Het |
Flnb |
G |
A |
14: 7,909,736 (GRCm38) |
V1397I |
probably benign |
Het |
Gdi2 |
A |
G |
13: 3,598,855 (GRCm39) |
|
probably benign |
Het |
Htr1a |
T |
C |
13: 105,581,792 (GRCm39) |
V344A |
possibly damaging |
Het |
Isg20l2 |
A |
T |
3: 87,839,068 (GRCm39) |
D93V |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,282,293 (GRCm39) |
|
probably null |
Het |
Mfsd4b3-ps |
A |
G |
10: 39,824,068 (GRCm39) |
M64T |
probably benign |
Het |
Nox3 |
T |
A |
17: 3,746,527 (GRCm39) |
|
probably benign |
Het |
Or2ag12 |
C |
T |
7: 106,277,400 (GRCm39) |
A98T |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,290,794 (GRCm39) |
N1204K |
probably damaging |
Het |
Pou4f3 |
C |
T |
18: 42,529,031 (GRCm39) |
Q325* |
probably null |
Het |
Rap1a |
T |
A |
3: 105,639,351 (GRCm39) |
T103S |
probably benign |
Het |
Rfc4 |
G |
A |
16: 22,934,526 (GRCm39) |
R165C |
probably damaging |
Het |
Smtnl1 |
A |
G |
2: 84,649,231 (GRCm39) |
S8P |
probably benign |
Het |
Syt17 |
C |
T |
7: 117,981,270 (GRCm39) |
G351S |
possibly damaging |
Het |
Tcf20 |
T |
A |
15: 82,738,101 (GRCm39) |
M1117L |
probably benign |
Het |
Tent5a |
A |
G |
9: 85,208,652 (GRCm39) |
V57A |
probably damaging |
Het |
Tgfbr3 |
A |
T |
5: 107,362,894 (GRCm39) |
H39Q |
probably damaging |
Het |
Trdmt1 |
T |
C |
2: 13,526,071 (GRCm39) |
|
probably null |
Het |
Twf2 |
A |
G |
9: 106,090,027 (GRCm39) |
I127V |
probably benign |
Het |
Unc13c |
A |
G |
9: 73,392,175 (GRCm39) |
V2059A |
probably damaging |
Het |
|
Other mutations in Grik3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-21 |