Incidental Mutation 'R9030:Grik3'
ID |
686985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik3
|
Ensembl Gene |
ENSMUSG00000001985 |
Gene Name |
glutamate receptor, ionotropic, kainate 3 |
Synonyms |
Glur7, Glur-7 |
MMRRC Submission |
068859-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R9030 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
125384493-125607966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 125526185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 139
(H139Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030676]
|
AlphaFold |
B1AS29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030676
AA Change: H139Q
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000030676 Gene: ENSMUSG00000001985 AA Change: H139Q
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (57/57) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
A |
C |
2: 158,474,321 (GRCm39) |
I375L |
probably benign |
Het |
Adgrl2 |
G |
T |
3: 148,544,761 (GRCm39) |
T778K |
possibly damaging |
Het |
Ccn3 |
A |
T |
15: 54,615,687 (GRCm39) |
Y284F |
probably damaging |
Het |
Cdc73 |
A |
T |
1: 143,485,234 (GRCm39) |
L478H |
probably damaging |
Het |
Cdh20 |
C |
A |
1: 110,027,843 (GRCm39) |
H529Q |
probably benign |
Het |
Cep55 |
T |
C |
19: 38,059,592 (GRCm39) |
|
probably null |
Het |
Chd9 |
G |
A |
8: 91,683,198 (GRCm39) |
R546Q |
unknown |
Het |
Ddit4 |
A |
T |
10: 59,786,515 (GRCm39) |
L178Q |
probably damaging |
Het |
Dgke |
A |
T |
11: 88,941,237 (GRCm39) |
N315K |
possibly damaging |
Het |
Dsg1a |
A |
G |
18: 20,473,549 (GRCm39) |
D874G |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,352,673 (GRCm39) |
Y184N |
probably damaging |
Het |
Dynlt1c |
A |
G |
17: 6,870,916 (GRCm39) |
I20V |
probably benign |
Het |
Ephx4 |
A |
G |
5: 107,577,549 (GRCm39) |
H291R |
possibly damaging |
Het |
Epx |
A |
T |
11: 87,763,470 (GRCm39) |
M250K |
probably benign |
Het |
Fan1 |
T |
C |
7: 64,022,761 (GRCm39) |
Y164C |
probably benign |
Het |
Fer1l6 |
A |
T |
15: 58,502,594 (GRCm39) |
Y1365F |
probably damaging |
Het |
Fndc8 |
A |
G |
11: 82,789,522 (GRCm39) |
T227A |
probably benign |
Het |
Gbp7 |
T |
C |
3: 142,243,798 (GRCm39) |
I115T |
probably damaging |
Het |
Gm5145 |
A |
G |
17: 20,791,270 (GRCm39) |
E216G |
probably benign |
Het |
Gm94 |
A |
T |
18: 43,914,326 (GRCm39) |
F77L |
possibly damaging |
Het |
Gucy2e |
T |
C |
11: 69,115,827 (GRCm39) |
T852A |
probably damaging |
Het |
Hif1a |
T |
C |
12: 73,983,010 (GRCm39) |
S274P |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,692,870 (GRCm39) |
I268L |
probably benign |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Lin52 |
T |
A |
12: 84,592,681 (GRCm39) |
S87T |
|
Het |
Lrrc74b |
A |
G |
16: 17,367,640 (GRCm39) |
|
probably null |
Het |
Mapk10 |
T |
C |
5: 103,144,499 (GRCm39) |
K136R |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,325,457 (GRCm39) |
N738K |
probably null |
Het |
Nlrp5 |
A |
T |
7: 23,129,573 (GRCm39) |
Q880L |
possibly damaging |
Het |
Or2y11 |
T |
A |
11: 49,442,808 (GRCm39) |
V78E |
probably damaging |
Het |
Or5d39 |
A |
T |
2: 87,979,718 (GRCm39) |
I215N |
possibly damaging |
Het |
Or6c215 |
G |
T |
10: 129,637,926 (GRCm39) |
P156Q |
probably damaging |
Het |
P4htm |
G |
A |
9: 108,474,627 (GRCm39) |
P46L |
probably benign |
Het |
Pcsk4 |
A |
T |
10: 80,164,858 (GRCm39) |
H69Q |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,374,385 (GRCm39) |
S1917P |
probably benign |
Het |
Pnpla5 |
A |
G |
15: 83,998,087 (GRCm39) |
V385A |
possibly damaging |
Het |
Prorp |
T |
C |
12: 55,426,192 (GRCm39) |
F514S |
probably damaging |
Het |
Rims2 |
C |
T |
15: 39,339,873 (GRCm39) |
R856C |
probably damaging |
Het |
Rprd2 |
A |
G |
3: 95,691,622 (GRCm39) |
Y218H |
probably benign |
Het |
Sat2 |
T |
A |
11: 69,513,069 (GRCm39) |
|
probably benign |
Het |
Sf1 |
C |
T |
19: 6,426,336 (GRCm39) |
R186C |
|
Het |
Snrnp200 |
A |
G |
2: 127,053,466 (GRCm39) |
|
probably benign |
Het |
Sqor |
A |
T |
2: 122,629,514 (GRCm39) |
D124V |
probably benign |
Het |
Ssh2 |
A |
G |
11: 77,312,062 (GRCm39) |
H191R |
possibly damaging |
Het |
Stac |
C |
A |
9: 111,519,320 (GRCm39) |
|
probably benign |
Het |
Svs4 |
T |
C |
2: 164,119,058 (GRCm39) |
M93V |
unknown |
Het |
Tbc1d32 |
A |
T |
10: 56,037,241 (GRCm39) |
S668T |
possibly damaging |
Het |
Tex10 |
A |
G |
4: 48,452,056 (GRCm39) |
F690S |
probably damaging |
Het |
Tex30 |
A |
G |
1: 44,130,356 (GRCm39) |
M88T |
|
Het |
Tgfbrap1 |
T |
C |
1: 43,095,837 (GRCm39) |
T534A |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,711,818 (GRCm39) |
E2647G |
probably damaging |
Het |
Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
Tubb3 |
A |
T |
8: 124,145,696 (GRCm39) |
R62W |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,690,312 (GRCm39) |
S507P |
probably benign |
Het |
Vmn2r116 |
A |
G |
17: 23,603,864 (GRCm39) |
K30E |
possibly damaging |
Het |
Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
probably damaging |
Het |
Wdr37 |
C |
T |
13: 8,885,424 (GRCm39) |
V340M |
probably damaging |
Het |
Zfp799 |
A |
G |
17: 33,039,565 (GRCm39) |
F234L |
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 |
|
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 |
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'- TGGGAATGTCAAAATCACTGC -3'
(R):5'- CTAATGTTGGGGCTCTGCTC -3'
Sequencing Primer
(F):5'- GGAATGTCAAAATCACTGCCCACTC -3'
(R):5'- GGGCTCTGCTCCCTCCC -3'
|
Posted On |
2021-11-19 |