Incidental Mutation 'IGL01534:Grik3'
| ID |
89867 |
| 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 # |
IGL01534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
125384493-125607966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125579983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 576
(V576A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030676]
|
| AlphaFold |
B1AS29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030676
AA Change: V576A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: V576A
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,197,146 (GRCm39) |
L111P |
possibly damaging |
Het |
| Adck5 |
C |
A |
15: 76,478,926 (GRCm39) |
H383Q |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,147,830 (GRCm39) |
|
probably benign |
Het |
| Asns |
T |
A |
6: 7,675,397 (GRCm39) |
H535L |
probably benign |
Het |
| Atf5 |
A |
G |
7: 44,462,462 (GRCm39) |
S221P |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,747,599 (GRCm39) |
Y294H |
probably damaging |
Het |
| B230307C23Rik |
A |
G |
16: 97,809,961 (GRCm39) |
|
probably benign |
Het |
| C1qtnf6 |
C |
T |
15: 78,409,416 (GRCm39) |
E144K |
probably benign |
Het |
| Casp8ap2 |
C |
T |
4: 32,648,134 (GRCm39) |
|
probably benign |
Het |
| Cd48 |
C |
A |
1: 171,523,307 (GRCm39) |
P50Q |
possibly damaging |
Het |
| Cnnm4 |
T |
C |
1: 36,538,596 (GRCm39) |
Y593H |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,144,019 (GRCm39) |
R569Q |
probably benign |
Het |
| Cubn |
A |
T |
2: 13,470,744 (GRCm39) |
C549* |
probably null |
Het |
| Dsg1a |
T |
A |
18: 20,474,053 (GRCm39) |
M1042K |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,114,651 (GRCm39) |
T835S |
probably damaging |
Het |
| Eif3c |
T |
C |
7: 126,156,867 (GRCm39) |
T389A |
probably benign |
Het |
| Erlin2 |
G |
T |
8: 27,521,985 (GRCm39) |
E177* |
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,026,772 (GRCm39) |
S91T |
possibly damaging |
Het |
| Gtpbp2 |
T |
A |
17: 46,474,430 (GRCm39) |
Y70N |
probably damaging |
Het |
| Idh3a |
T |
A |
9: 54,508,506 (GRCm39) |
|
probably benign |
Het |
| Ift74 |
G |
A |
4: 94,568,181 (GRCm39) |
R406H |
probably benign |
Het |
| Kcna7 |
C |
A |
7: 45,055,935 (GRCm39) |
N50K |
probably damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,726,144 (GRCm39) |
S546P |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,303,986 (GRCm39) |
D134N |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,864,700 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
T |
C |
7: 3,288,463 (GRCm39) |
Y683C |
probably benign |
Het |
| Or14j3 |
A |
T |
17: 37,900,963 (GRCm39) |
Y94N |
possibly damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,546 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8i2 |
A |
G |
2: 86,852,228 (GRCm39) |
I220T |
probably damaging |
Het |
| Or9i1 |
A |
T |
19: 13,839,283 (GRCm39) |
N42I |
probably damaging |
Het |
| Or9i14 |
T |
A |
19: 13,792,666 (GRCm39) |
H96L |
probably benign |
Het |
| P2rx7 |
A |
C |
5: 122,814,761 (GRCm39) |
I409L |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,163,802 (GRCm39) |
N191S |
probably damaging |
Het |
| Rabggtb |
A |
G |
3: 153,615,896 (GRCm39) |
|
probably null |
Het |
| Rgs4 |
A |
T |
1: 169,572,085 (GRCm39) |
C71* |
probably null |
Het |
| Rnase10 |
T |
C |
14: 51,245,436 (GRCm39) |
F5L |
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,609,888 (GRCm39) |
T987S |
probably benign |
Het |
| Shox2 |
A |
C |
3: 66,885,696 (GRCm39) |
D126E |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 125,059,830 (GRCm39) |
D910G |
probably damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,702,364 (GRCm39) |
C594Y |
possibly damaging |
Het |
| Spock2 |
C |
T |
10: 59,962,883 (GRCm39) |
|
probably benign |
Het |
| Togaram1 |
G |
T |
12: 65,013,321 (GRCm39) |
D191Y |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,640,660 (GRCm39) |
V172A |
probably benign |
Het |
| Tubb3 |
C |
T |
8: 124,147,705 (GRCm39) |
R213C |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,844 (GRCm39) |
V379E |
probably damaging |
Het |
| Zfp446 |
C |
T |
7: 12,713,493 (GRCm39) |
P153L |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,032,004 (GRCm39) |
N645K |
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 |
|
|
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 |
2013-12-03 |
Incidental Mutation