Incidental Mutation 'R0054:Grik3'
| ID |
17166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik3
|
| Ensembl Gene |
ENSMUSG00000001985 |
| Gene Name |
glutamate receptor, ionotropic, kainate 3 |
| Synonyms |
Glur7, Glur-7 |
| MMRRC Submission |
038348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R0054 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
125384493-125607966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 125517368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 70
(N70K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030676]
|
| AlphaFold |
B1AS29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030676
AA Change: N70K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: N70K
| 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 |
|
| Meta Mutation Damage Score |
0.4253 |
| Coding Region Coverage |
- 1x: 88.8%
- 3x: 85.6%
- 10x: 76.3%
- 20x: 59.9%
|
| Validation Efficiency |
96% (91/95) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,547,500 (GRCm39) |
|
probably null |
Het |
| Apoa4 |
A |
G |
9: 46,153,822 (GRCm39) |
D141G |
probably benign |
Het |
| Atg9a |
T |
C |
1: 75,161,143 (GRCm39) |
Y701C |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,762,510 (GRCm39) |
R922Q |
probably damaging |
Het |
| Bmal2 |
T |
G |
6: 146,731,216 (GRCm39) |
V507G |
probably benign |
Het |
| Brms1 |
T |
A |
19: 5,096,727 (GRCm39) |
C136* |
probably null |
Het |
| Ccdc180 |
T |
A |
4: 45,890,900 (GRCm39) |
V24E |
probably benign |
Het |
| Clec4f |
C |
T |
6: 83,629,911 (GRCm39) |
V216M |
probably benign |
Het |
| Cpd |
C |
G |
11: 76,681,664 (GRCm39) |
G1160R |
probably damaging |
Het |
| Creb5 |
A |
G |
6: 53,424,642 (GRCm39) |
M128V |
probably benign |
Het |
| Ddb2 |
G |
T |
2: 91,065,165 (GRCm39) |
Q87K |
probably benign |
Het |
| Defb41 |
A |
G |
1: 18,321,471 (GRCm39) |
Y48H |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,303,267 (GRCm39) |
N1546D |
probably benign |
Het |
| Dmac1 |
A |
G |
4: 75,196,337 (GRCm39) |
V51A |
possibly damaging |
Het |
| Dnajb11 |
C |
T |
16: 22,681,369 (GRCm39) |
A49V |
probably damaging |
Het |
| Dnajc14 |
G |
A |
10: 128,643,448 (GRCm39) |
D457N |
probably damaging |
Het |
| Eif3a |
C |
A |
19: 60,755,264 (GRCm39) |
D973Y |
unknown |
Het |
| Farsb |
T |
A |
1: 78,439,011 (GRCm39) |
K395* |
probably null |
Het |
| Fem1b |
A |
G |
9: 62,704,082 (GRCm39) |
S393P |
probably damaging |
Het |
| Fsip2 |
A |
C |
2: 82,817,299 (GRCm39) |
N4344T |
possibly damaging |
Het |
| Gphn |
A |
G |
12: 78,684,277 (GRCm39) |
S558G |
probably damaging |
Het |
| Gpr142 |
C |
A |
11: 114,689,755 (GRCm39) |
H2Q |
probably benign |
Het |
| Grhpr |
T |
C |
4: 44,988,915 (GRCm39) |
|
probably benign |
Het |
| Gsap |
T |
A |
5: 21,455,933 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,846,611 (GRCm39) |
C237S |
probably damaging |
Het |
| Ighv1-9 |
A |
T |
12: 114,547,602 (GRCm39) |
F7L |
probably benign |
Het |
| Ints8 |
A |
G |
4: 11,204,595 (GRCm39) |
|
probably benign |
Het |
| Kcnj16 |
G |
T |
11: 110,915,549 (GRCm39) |
W70C |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,551,251 (GRCm39) |
M85V |
probably benign |
Het |
| Kri1 |
G |
A |
9: 21,186,661 (GRCm39) |
S447L |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,632,829 (GRCm39) |
V3528A |
probably benign |
Het |
| Lrrc46 |
A |
T |
11: 96,929,605 (GRCm39) |
L77Q |
probably damaging |
Het |
| Mrpl44 |
T |
C |
1: 79,757,212 (GRCm39) |
L219S |
probably damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,281,303 (GRCm39) |
I418M |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,714,905 (GRCm39) |
D112G |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,897,098 (GRCm39) |
T630A |
possibly damaging |
Het |
| Nsl1 |
T |
C |
1: 190,814,381 (GRCm39) |
L194P |
probably damaging |
Het |
| Or5ac23 |
T |
C |
16: 59,149,428 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,705 (GRCm39) |
K139E |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,876,955 (GRCm39) |
S159G |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,142,978 (GRCm39) |
R845G |
probably null |
Het |
| Pld1 |
A |
G |
3: 28,150,033 (GRCm39) |
|
probably benign |
Het |
| Psd |
T |
A |
19: 46,311,781 (GRCm39) |
I300F |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,986,195 (GRCm39) |
W332R |
probably damaging |
Het |
| Rnf212 |
T |
A |
5: 108,893,530 (GRCm39) |
M70L |
possibly damaging |
Het |
| Sema4f |
A |
G |
6: 82,896,674 (GRCm39) |
|
probably benign |
Het |
| Sez6 |
C |
A |
11: 77,844,699 (GRCm39) |
T7K |
possibly damaging |
Het |
| Skint2 |
T |
C |
4: 112,502,660 (GRCm39) |
I290T |
probably benign |
Het |
| Slc5a3 |
T |
A |
16: 91,874,522 (GRCm39) |
I193N |
probably damaging |
Het |
| Snip1 |
T |
A |
4: 124,966,633 (GRCm39) |
Y354* |
probably null |
Het |
| Tmco5 |
A |
G |
2: 116,717,768 (GRCm39) |
Y200C |
probably damaging |
Het |
| Tmem87b |
T |
A |
2: 128,673,361 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
T |
C |
8: 65,453,973 (GRCm39) |
E92G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,626,804 (GRCm39) |
D13067E |
possibly damaging |
Het |
| Ufl1 |
A |
T |
4: 25,269,087 (GRCm39) |
I168N |
probably damaging |
Het |
| Zfp385c |
G |
A |
11: 100,520,782 (GRCm39) |
P293S |
probably benign |
Het |
| Zfp473 |
T |
A |
7: 44,383,899 (GRCm39) |
S144C |
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 |
|
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 |
|
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 |
2013-01-20 |
Incidental Mutation