Incidental Mutation 'IGL03198:Grik3'
ID |
412893 |
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: 0.126)
|
Stock # |
IGL03198
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
125384493-125607966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125553555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 429
(D429G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030676]
|
AlphaFold |
B1AS29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030676
AA Change: D429G
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000030676 Gene: ENSMUSG00000001985 AA Change: D429G
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adhfe1 |
A |
T |
1: 9,620,177 (GRCm39) |
|
probably benign |
Het |
Atp6v0a2 |
T |
C |
5: 124,789,425 (GRCm39) |
|
probably null |
Het |
Brca1 |
G |
T |
11: 101,403,537 (GRCm39) |
|
probably benign |
Het |
Cd55 |
A |
T |
1: 130,368,108 (GRCm39) |
C372S |
probably benign |
Het |
Clip2 |
A |
T |
5: 134,526,936 (GRCm39) |
|
probably benign |
Het |
Dgkb |
A |
G |
12: 38,186,615 (GRCm39) |
N262D |
probably damaging |
Het |
Fam227b |
C |
T |
2: 125,966,499 (GRCm39) |
|
probably null |
Het |
Foxj2 |
G |
A |
6: 122,809,966 (GRCm39) |
|
probably null |
Het |
Gm4297 |
T |
A |
X: 24,418,810 (GRCm39) |
|
probably benign |
Het |
Hcfc1 |
T |
C |
X: 72,994,935 (GRCm39) |
I924V |
possibly damaging |
Het |
Lrrk1 |
A |
G |
7: 65,956,642 (GRCm39) |
V411A |
probably damaging |
Het |
Mdh1 |
A |
T |
11: 21,514,168 (GRCm39) |
V83E |
probably damaging |
Het |
Pa2g4 |
A |
G |
10: 128,401,647 (GRCm39) |
V17A |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Polg |
A |
G |
7: 79,101,470 (GRCm39) |
V1079A |
probably damaging |
Het |
Polr2a |
G |
T |
11: 69,638,107 (GRCm39) |
|
probably null |
Het |
Ptk2 |
C |
T |
15: 73,108,065 (GRCm39) |
S722N |
probably damaging |
Het |
Rock2 |
A |
G |
12: 17,025,508 (GRCm39) |
D1243G |
probably benign |
Het |
Sirt4 |
T |
C |
5: 115,621,061 (GRCm39) |
D37G |
probably benign |
Het |
Slc35d1 |
T |
C |
4: 103,042,085 (GRCm39) |
Y249C |
probably damaging |
Het |
Snrnp27 |
A |
T |
6: 86,659,968 (GRCm39) |
|
probably null |
Het |
Srek1 |
T |
C |
13: 103,881,443 (GRCm39) |
|
probably null |
Het |
Sspo |
A |
T |
6: 48,454,516 (GRCm39) |
I2951F |
probably benign |
Het |
Stxbp3 |
A |
G |
3: 108,734,405 (GRCm39) |
F40L |
probably damaging |
Het |
Sympk |
T |
C |
7: 18,778,921 (GRCm39) |
V604A |
possibly damaging |
Het |
Tbc1d2b |
T |
C |
9: 90,104,510 (GRCm39) |
Y544C |
probably damaging |
Het |
Tnpo2 |
C |
T |
8: 85,778,347 (GRCm39) |
T592I |
possibly damaging |
Het |
Txndc16 |
T |
C |
14: 45,388,941 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
T |
15: 38,045,964 (GRCm39) |
L120Q |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,847,844 (GRCm39) |
M836K |
probably damaging |
Het |
Wdr48 |
A |
G |
9: 119,741,479 (GRCm39) |
N141S |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,980,528 (GRCm39) |
Y28* |
probably null |
Het |
Zfp423 |
T |
C |
8: 88,508,304 (GRCm39) |
D659G |
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 |
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 |
|
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 |
2016-08-02 |