Incidental Mutation 'R1296:Grik3'
ID |
158112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik3
|
Ensembl Gene |
ENSMUSG00000001985 |
Gene Name |
glutamate receptor, ionotropic, kainate 3 |
Synonyms |
Glur7, Glur-7 |
MMRRC Submission |
039362-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R1296 (G1)
|
Quality Score |
198 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
125384493-125607966 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 125598357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030676]
|
AlphaFold |
B1AS29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030676
|
SMART Domains |
Protein: ENSMUSP00000030676 Gene: ENSMUSG00000001985
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 |
0.0898 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.1%
|
Validation Efficiency |
100% (72/72) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
G |
A |
8: 56,324,754 (GRCm39) |
Q567* |
probably null |
Het |
Apol11a |
T |
C |
15: 77,395,219 (GRCm39) |
|
probably benign |
Het |
Arhgap29 |
A |
G |
3: 121,786,044 (GRCm39) |
H275R |
probably benign |
Het |
Arhgef17 |
C |
A |
7: 100,530,476 (GRCm39) |
E428* |
probably null |
Het |
Atm |
A |
T |
9: 53,367,830 (GRCm39) |
V2431E |
probably damaging |
Het |
Atn1 |
G |
T |
6: 124,724,750 (GRCm39) |
P161Q |
unknown |
Het |
Atp13a2 |
T |
C |
4: 140,721,113 (GRCm39) |
S99P |
probably damaging |
Het |
Atp8a1 |
A |
T |
5: 67,780,049 (GRCm39) |
|
probably benign |
Het |
Cdk18 |
T |
C |
1: 132,047,698 (GRCm39) |
|
probably benign |
Het |
Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
Cntn4 |
G |
T |
6: 106,486,363 (GRCm39) |
G264C |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,940,052 (GRCm39) |
S1293P |
possibly damaging |
Het |
Col6a6 |
T |
C |
9: 105,658,290 (GRCm39) |
K641E |
probably damaging |
Het |
Dmd |
A |
T |
X: 82,922,126 (GRCm39) |
K1465N |
probably damaging |
Het |
Dus2 |
T |
C |
8: 106,779,675 (GRCm39) |
V403A |
possibly damaging |
Het |
Frs2 |
C |
T |
10: 116,916,979 (GRCm39) |
C5Y |
probably benign |
Het |
Gm5174 |
A |
G |
10: 86,492,866 (GRCm39) |
|
noncoding transcript |
Het |
Gpr61 |
A |
G |
3: 108,057,797 (GRCm39) |
V288A |
possibly damaging |
Het |
Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
Ints6 |
T |
C |
14: 62,942,352 (GRCm39) |
|
probably benign |
Het |
Ints8 |
T |
C |
4: 11,221,204 (GRCm39) |
I724V |
possibly damaging |
Het |
Lrrk2 |
G |
A |
15: 91,613,123 (GRCm39) |
C749Y |
probably damaging |
Het |
Map4k1 |
A |
G |
7: 28,697,877 (GRCm39) |
D471G |
possibly damaging |
Het |
Mbtd1 |
A |
G |
11: 93,801,185 (GRCm39) |
Y122C |
probably damaging |
Het |
Mif-ps9 |
T |
A |
19: 56,743,766 (GRCm39) |
|
noncoding transcript |
Het |
Mrfap1 |
A |
G |
5: 36,953,817 (GRCm39) |
S41P |
possibly damaging |
Het |
Mrm2 |
T |
C |
5: 140,314,308 (GRCm39) |
T176A |
probably benign |
Het |
Mslnl |
T |
C |
17: 25,962,214 (GRCm39) |
L204P |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
Nfyb |
A |
G |
10: 82,586,665 (GRCm39) |
|
probably benign |
Het |
Nlgn3 |
T |
C |
X: 100,352,522 (GRCm39) |
|
probably benign |
Het |
Nr3c1 |
G |
A |
18: 39,620,051 (GRCm39) |
Q79* |
probably null |
Het |
Nxpe4 |
C |
G |
9: 48,307,793 (GRCm39) |
T299R |
probably benign |
Het |
Otud4 |
C |
A |
8: 80,400,603 (GRCm39) |
H1105N |
unknown |
Het |
Pcnx2 |
A |
G |
8: 126,500,572 (GRCm39) |
L1506P |
probably damaging |
Het |
Prl2c5 |
T |
A |
13: 13,364,009 (GRCm39) |
H88Q |
probably damaging |
Het |
Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
Rbl1 |
A |
T |
2: 157,011,891 (GRCm39) |
V688D |
probably benign |
Het |
Rhox2g |
C |
A |
X: 36,824,865 (GRCm39) |
|
probably benign |
Het |
Rmnd5a |
G |
A |
6: 71,375,439 (GRCm39) |
L80F |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,702,765 (GRCm39) |
|
probably benign |
Het |
Sele |
T |
A |
1: 163,878,379 (GRCm39) |
S239R |
probably damaging |
Het |
Siglecf |
A |
T |
7: 43,005,344 (GRCm39) |
R435* |
probably null |
Het |
Slc23a1 |
C |
T |
18: 35,755,676 (GRCm39) |
V407M |
possibly damaging |
Het |
Slc6a14 |
G |
A |
X: 21,587,807 (GRCm39) |
V122I |
probably benign |
Het |
Spdl1 |
T |
A |
11: 34,704,434 (GRCm39) |
E466D |
unknown |
Het |
Stau2 |
A |
G |
1: 16,510,596 (GRCm39) |
F121L |
probably benign |
Het |
Stxbp1 |
A |
T |
2: 32,684,648 (GRCm39) |
S594T |
probably benign |
Het |
Sufu |
G |
A |
19: 46,443,159 (GRCm39) |
|
probably benign |
Het |
Tap2 |
G |
T |
17: 34,430,889 (GRCm39) |
V330L |
probably benign |
Het |
Tbc1d1 |
T |
C |
5: 64,421,775 (GRCm39) |
L389P |
probably damaging |
Het |
Tbx2 |
A |
G |
11: 85,725,592 (GRCm39) |
E181G |
probably damaging |
Het |
Tlcd4 |
A |
G |
3: 121,000,940 (GRCm39) |
V231A |
probably benign |
Het |
Tmprss9 |
G |
T |
10: 80,726,279 (GRCm39) |
A510S |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,890,551 (GRCm39) |
C298Y |
probably damaging |
Het |
Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,475,005 (GRCm39) |
L413Q |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,805,675 (GRCm39) |
I2335T |
probably damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,484,544 (GRCm39) |
N552S |
possibly damaging |
Het |
Zc3h7a |
C |
T |
16: 10,978,890 (GRCm39) |
R95H |
probably damaging |
Het |
Zfp598 |
A |
G |
17: 24,898,623 (GRCm39) |
N474S |
probably benign |
Het |
Zng1 |
A |
T |
19: 24,920,039 (GRCm39) |
|
probably benign |
Het |
Zpld1 |
T |
C |
16: 55,068,697 (GRCm39) |
D138G |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGCCATGCTGAGTGACTGAAG -3'
(R):5'- GATGACCAAGCCAGGATTGTGTCTC -3'
Sequencing Primer
(F):5'- GATCTCCACCTTTGAGAAGATGTG -3'
(R):5'- CAGGATTGTGTCTCCATCCC -3'
|
Posted On |
2014-02-18 |