Incidental Mutation 'R8418:Grik3'
| ID |
653030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik3
|
| Ensembl Gene |
ENSMUSG00000001985 |
| Gene Name |
glutamate receptor, ionotropic, kainate 3 |
| Synonyms |
Glur7, Glur-7 |
| MMRRC Submission |
067897-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R8418 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
125384493-125607966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125579835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 527
(K527E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030676]
|
| AlphaFold |
B1AS29 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030676
AA Change: K527E
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: K527E
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
C |
17: 43,021,477 (GRCm39) |
H449R |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,698,468 (GRCm39) |
V646A |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc62 |
C |
T |
5: 124,084,455 (GRCm39) |
R279* |
probably null |
Het |
| Cimip2b |
A |
G |
4: 43,427,204 (GRCm39) |
L76P |
unknown |
Het |
| Col6a5 |
G |
T |
9: 105,755,821 (GRCm39) |
P2201Q |
probably damaging |
Het |
| Cpa3 |
T |
C |
3: 20,276,315 (GRCm39) |
Y306C |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,260,398 (GRCm39) |
N82D |
possibly damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,918,717 (GRCm39) |
D430E |
probably damaging |
Het |
| Dcst2 |
T |
C |
3: 89,278,901 (GRCm39) |
V546A |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,748,403 (GRCm39) |
T359A |
probably benign |
Het |
| Dgkb |
C |
A |
12: 38,380,016 (GRCm39) |
H591N |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,994,284 (GRCm39) |
S1047F |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,609,795 (GRCm39) |
I215T |
probably benign |
Het |
| Efcab12 |
A |
G |
6: 115,799,076 (GRCm39) |
|
probably null |
Het |
| Erich3 |
C |
T |
3: 154,415,378 (GRCm39) |
R165C |
|
Het |
| Gabrr1 |
C |
T |
4: 33,162,615 (GRCm39) |
R394* |
probably null |
Het |
| Garnl3 |
G |
T |
2: 32,942,158 (GRCm39) |
Q153K |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,042,446 (GRCm39) |
N393S |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,309,466 (GRCm39) |
E192D |
probably benign |
Het |
| Gm28360 |
A |
T |
1: 117,781,357 (GRCm39) |
H116L |
probably benign |
Het |
| Gm9602 |
T |
A |
14: 15,935,348 (GRCm39) |
|
probably benign |
Het |
| Gp1bb |
T |
A |
16: 18,440,103 (GRCm39) |
H5L |
unknown |
Het |
| Hhip |
T |
C |
8: 80,771,714 (GRCm39) |
M199V |
probably damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,166 (GRCm39) |
V231A |
probably damaging |
Het |
| Itgal |
A |
T |
7: 126,929,454 (GRCm39) |
I1124F |
probably benign |
Het |
| Kash5 |
A |
G |
7: 44,843,501 (GRCm39) |
L241P |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
T |
G |
3: 151,990,954 (GRCm39) |
Y433S |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,430,926 (GRCm39) |
I8062K |
possibly damaging |
Het |
| Ntsr2 |
T |
G |
12: 16,706,662 (GRCm39) |
V230G |
possibly damaging |
Het |
| Or52ab2 |
A |
G |
7: 102,970,278 (GRCm39) |
Y220C |
|
Het |
| Ptpn2 |
G |
A |
18: 67,814,592 (GRCm39) |
T139M |
probably damaging |
Het |
| Pum2 |
T |
A |
12: 8,760,245 (GRCm39) |
D145E |
possibly damaging |
Het |
| Radil |
T |
C |
5: 142,480,676 (GRCm39) |
E593G |
probably benign |
Het |
| Rdh14 |
T |
C |
12: 10,444,580 (GRCm39) |
F144L |
probably damaging |
Het |
| Sec23ip |
T |
G |
7: 128,380,187 (GRCm39) |
D867E |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,613,187 (GRCm39) |
Y371C |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,148,233 (GRCm39) |
I254N |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,731,532 (GRCm39) |
K7E |
probably damaging |
Het |
| Thoc2l |
C |
A |
5: 104,667,724 (GRCm39) |
Q749K |
possibly damaging |
Het |
| Timeless |
A |
C |
10: 128,086,605 (GRCm39) |
N1048T |
probably benign |
Het |
| Tll2 |
C |
A |
19: 41,081,276 (GRCm39) |
E732D |
probably damaging |
Het |
| Tmem171 |
A |
G |
13: 98,828,740 (GRCm39) |
S137P |
probably damaging |
Het |
| Ttll3 |
A |
T |
6: 113,371,734 (GRCm39) |
M44L |
probably benign |
Het |
| Vmn2r29 |
T |
A |
7: 7,244,939 (GRCm39) |
I312L |
probably benign |
Het |
| Vmn2r43 |
A |
T |
7: 8,258,583 (GRCm39) |
L210* |
probably null |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,850 (GRCm39) |
I738V |
probably damaging |
Het |
| Zfp977 |
T |
A |
7: 42,229,410 (GRCm39) |
M372L |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGTTGACGTTGAACTGC -3'
(R):5'- TACCTGGCGATGACGAAGAG -3'
Sequencing Primer
(F):5'- CACTTAATGATCCCAGTGCTGAGG -3'
(R):5'- GGACACAGCTGACACCCAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation