Incidental Mutation 'R3615:Grik5'
ID |
268432 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik5
|
Ensembl Gene |
ENSMUSG00000003378 |
Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
Synonyms |
KA2, GluRgamma2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R3615 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24721996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 581
(A581T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003468]
[ENSMUST00000205328]
[ENSMUST00000206134]
|
AlphaFold |
Q61626 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003468
AA Change: A581T
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000003468 Gene: ENSMUSG00000003378 AA Change: A581T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
40 |
381 |
3.4e-64 |
PFAM |
PBPe
|
416 |
785 |
3.7e-122 |
SMART |
Lig_chan-Glu_bd
|
426 |
490 |
1.65e-29 |
SMART |
transmembrane domain
|
804 |
823 |
N/A |
INTRINSIC |
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
low complexity region
|
893 |
921 |
N/A |
INTRINSIC |
low complexity region
|
962 |
973 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205328
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206134
|
Meta Mutation Damage Score |
0.0862 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
98% (40/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] PHENOTYPE: Mice homozygous for one allele display abnormal hippocampal synapse function. Mice homozygous for a second allele display decreased thermal nociception, increased startle response and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,535,257 (GRCm39) |
T818A |
probably benign |
Het |
Aasdh |
A |
G |
5: 77,036,629 (GRCm39) |
V304A |
probably benign |
Het |
Angptl3 |
G |
A |
4: 98,922,702 (GRCm39) |
A248T |
probably benign |
Het |
Ap2b1 |
T |
A |
11: 83,215,391 (GRCm39) |
C112S |
possibly damaging |
Het |
Aqr |
A |
T |
2: 113,967,368 (GRCm39) |
I549N |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,801,562 (GRCm39) |
D161N |
possibly damaging |
Het |
Col28a1 |
A |
G |
6: 8,014,942 (GRCm39) |
V821A |
probably damaging |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dnah1 |
A |
G |
14: 31,037,105 (GRCm39) |
L247P |
possibly damaging |
Het |
Dpysl2 |
T |
A |
14: 67,071,819 (GRCm39) |
H107L |
probably damaging |
Het |
Dzip3 |
A |
G |
16: 48,757,426 (GRCm39) |
L869S |
probably damaging |
Het |
Efs |
T |
C |
14: 55,157,552 (GRCm39) |
Y160C |
probably damaging |
Het |
Enam |
A |
T |
5: 88,652,306 (GRCm39) |
N1197Y |
possibly damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fam184b |
A |
G |
5: 45,740,157 (GRCm39) |
V343A |
possibly damaging |
Het |
Fbxw26 |
A |
T |
9: 109,572,828 (GRCm39) |
Y105* |
probably null |
Het |
Fiz1 |
A |
G |
7: 5,011,171 (GRCm39) |
L449P |
probably benign |
Het |
Foxi2 |
T |
A |
7: 135,012,180 (GRCm39) |
C23S |
possibly damaging |
Het |
Gdf2 |
G |
A |
14: 33,666,914 (GRCm39) |
R212Q |
probably damaging |
Het |
Gm5105 |
C |
A |
3: 137,755,449 (GRCm39) |
A46S |
unknown |
Het |
Gse1 |
C |
G |
8: 121,299,481 (GRCm39) |
|
probably benign |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Krt25 |
A |
C |
11: 99,208,124 (GRCm39) |
V368G |
possibly damaging |
Het |
Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,126,896 (GRCm39) |
K417E |
probably damaging |
Het |
Miip |
A |
G |
4: 147,950,371 (GRCm39) |
M75T |
probably benign |
Het |
Nlrp10 |
A |
G |
7: 108,523,683 (GRCm39) |
F599S |
probably benign |
Het |
Nlrp12 |
T |
A |
7: 3,289,205 (GRCm39) |
M436L |
probably benign |
Het |
Or4b13 |
T |
C |
2: 90,082,753 (GRCm39) |
E193G |
possibly damaging |
Het |
Pafah1b1 |
G |
A |
11: 74,581,058 (GRCm39) |
S57F |
probably damaging |
Het |
Pla2g2e |
G |
A |
4: 138,607,685 (GRCm39) |
V22I |
probably benign |
Het |
Plekhd1 |
A |
G |
12: 80,764,044 (GRCm39) |
E202G |
probably damaging |
Het |
Prss21 |
A |
G |
17: 24,091,805 (GRCm39) |
T258A |
probably benign |
Het |
Prss34 |
A |
G |
17: 25,517,820 (GRCm39) |
E65G |
probably benign |
Het |
Psap |
A |
G |
10: 60,130,383 (GRCm39) |
N149S |
probably benign |
Het |
Ptprf |
C |
T |
4: 118,095,080 (GRCm39) |
A275T |
probably benign |
Het |
Sem1 |
A |
G |
6: 6,578,520 (GRCm39) |
L12P |
probably damaging |
Het |
Sf3b3 |
A |
G |
8: 111,571,155 (GRCm39) |
Y4H |
probably damaging |
Het |
Sh3bp4 |
G |
T |
1: 89,065,427 (GRCm39) |
R7L |
probably damaging |
Het |
Slc16a1 |
T |
A |
3: 104,560,886 (GRCm39) |
L397Q |
probably damaging |
Het |
Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
Spata31e5 |
T |
C |
1: 28,815,656 (GRCm39) |
D792G |
probably benign |
Het |
Spata31g1 |
A |
G |
4: 42,971,864 (GRCm39) |
N399S |
probably benign |
Het |
Tas2r102 |
C |
T |
6: 132,739,781 (GRCm39) |
Q230* |
probably null |
Het |
Tdo2 |
A |
G |
3: 81,882,735 (GRCm39) |
Y13H |
possibly damaging |
Het |
Tmem231 |
C |
T |
8: 112,644,945 (GRCm39) |
R187H |
possibly damaging |
Het |
Tmem30b |
A |
G |
12: 73,592,353 (GRCm39) |
M254T |
probably damaging |
Het |
Trpm1 |
G |
A |
7: 63,893,318 (GRCm39) |
G1057R |
probably damaging |
Het |
Tusc3 |
A |
T |
8: 39,617,879 (GRCm39) |
K347N |
probably damaging |
Het |
Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
Vash2 |
T |
C |
1: 190,702,616 (GRCm39) |
Y117C |
probably damaging |
Het |
Vrk2 |
A |
G |
11: 26,439,866 (GRCm39) |
I235T |
possibly damaging |
Het |
Wdr20 |
A |
G |
12: 110,760,373 (GRCm39) |
T420A |
probably benign |
Het |
|
Other mutations in Grik5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00788:Grik5
|
APN |
7 |
24,764,818 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00974:Grik5
|
APN |
7 |
24,713,310 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01941:Grik5
|
APN |
7 |
24,764,607 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02642:Grik5
|
APN |
7 |
24,758,408 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL03177:Grik5
|
APN |
7 |
24,714,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03402:Grik5
|
APN |
7 |
24,714,894 (GRCm39) |
missense |
probably damaging |
1.00 |
Griffin
|
UTSW |
7 |
24,758,502 (GRCm39) |
missense |
possibly damaging |
0.78 |
G1citation:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
PIT4453001:Grik5
|
UTSW |
7 |
24,710,119 (GRCm39) |
missense |
probably damaging |
0.99 |
R0077:Grik5
|
UTSW |
7 |
24,722,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R0412:Grik5
|
UTSW |
7 |
24,713,099 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0427:Grik5
|
UTSW |
7 |
24,757,923 (GRCm39) |
missense |
probably benign |
0.34 |
R1191:Grik5
|
UTSW |
7 |
24,757,750 (GRCm39) |
nonsense |
probably null |
|
R1830:Grik5
|
UTSW |
7 |
24,745,726 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2072:Grik5
|
UTSW |
7 |
24,714,738 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2369:Grik5
|
UTSW |
7 |
24,757,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R3410:Grik5
|
UTSW |
7 |
24,762,397 (GRCm39) |
missense |
probably benign |
0.04 |
R3411:Grik5
|
UTSW |
7 |
24,762,397 (GRCm39) |
missense |
probably benign |
0.04 |
R3616:Grik5
|
UTSW |
7 |
24,721,996 (GRCm39) |
missense |
probably benign |
0.37 |
R4600:Grik5
|
UTSW |
7 |
24,767,489 (GRCm39) |
missense |
probably damaging |
0.99 |
R4658:Grik5
|
UTSW |
7 |
24,760,152 (GRCm39) |
splice site |
probably benign |
|
R4735:Grik5
|
UTSW |
7 |
24,757,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R4810:Grik5
|
UTSW |
7 |
24,714,922 (GRCm39) |
missense |
probably damaging |
0.98 |
R5113:Grik5
|
UTSW |
7 |
24,714,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R5120:Grik5
|
UTSW |
7 |
24,710,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R5132:Grik5
|
UTSW |
7 |
24,764,629 (GRCm39) |
missense |
probably benign |
0.02 |
R5173:Grik5
|
UTSW |
7 |
24,762,319 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5186:Grik5
|
UTSW |
7 |
24,715,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R5239:Grik5
|
UTSW |
7 |
24,764,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R5935:Grik5
|
UTSW |
7 |
24,758,502 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6335:Grik5
|
UTSW |
7 |
24,713,019 (GRCm39) |
missense |
probably benign |
|
R6609:Grik5
|
UTSW |
7 |
24,714,951 (GRCm39) |
nonsense |
probably null |
|
R6760:Grik5
|
UTSW |
7 |
24,758,364 (GRCm39) |
critical splice donor site |
probably null |
|
R6820:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6821:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6822:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6824:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7173:Grik5
|
UTSW |
7 |
24,767,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R7230:Grik5
|
UTSW |
7 |
24,722,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R7555:Grik5
|
UTSW |
7 |
24,760,022 (GRCm39) |
missense |
probably benign |
|
R7560:Grik5
|
UTSW |
7 |
24,757,951 (GRCm39) |
missense |
probably damaging |
0.99 |
R7571:Grik5
|
UTSW |
7 |
24,713,310 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8228:Grik5
|
UTSW |
7 |
24,745,735 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8228:Grik5
|
UTSW |
7 |
24,709,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R8681:Grik5
|
UTSW |
7 |
24,709,897 (GRCm39) |
missense |
probably benign |
0.06 |
R8879:Grik5
|
UTSW |
7 |
24,722,489 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8933:Grik5
|
UTSW |
7 |
24,722,743 (GRCm39) |
missense |
probably benign |
0.11 |
R9129:Grik5
|
UTSW |
7 |
24,767,429 (GRCm39) |
splice site |
probably benign |
|
R9130:Grik5
|
UTSW |
7 |
24,767,429 (GRCm39) |
splice site |
probably benign |
|
R9154:Grik5
|
UTSW |
7 |
24,758,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R9317:Grik5
|
UTSW |
7 |
24,745,660 (GRCm39) |
missense |
probably damaging |
0.99 |
R9355:Grik5
|
UTSW |
7 |
24,767,597 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9406:Grik5
|
UTSW |
7 |
24,757,969 (GRCm39) |
missense |
probably benign |
0.00 |
X0017:Grik5
|
UTSW |
7 |
24,760,013 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Grik5
|
UTSW |
7 |
24,713,229 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Grik5
|
UTSW |
7 |
24,715,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCCCATATCCCCAGAATG -3'
(R):5'- CACTGCAGTATCCGTTCCTG -3'
Sequencing Primer
(F):5'- TGGAAGGCCTCCCAATTTAG -3'
(R):5'- GGCGTGTCAGCATCTCTG -3'
|
Posted On |
2015-02-19 |