Incidental Mutation 'R0412:Grik5'
| ID |
36715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik5
|
| Ensembl Gene |
ENSMUSG00000003378 |
| Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
| Synonyms |
KA2, GluRgamma2 |
| MMRRC Submission |
038614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R0412 (G1)
|
| Quality Score |
107 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24713099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 809
(V809A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003468]
[ENSMUST00000205328]
[ENSMUST00000206134]
|
| AlphaFold |
Q61626 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003468
AA Change: V809A
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: V809A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.2%
|
| Validation Efficiency |
94% (67/71) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
C |
A |
7: 101,039,429 (GRCm39) |
A563D |
probably damaging |
Het |
| Arhgap28 |
G |
A |
17: 68,203,253 (GRCm39) |
L67F |
probably damaging |
Het |
| Atp7b |
G |
T |
8: 22,485,675 (GRCm39) |
|
probably null |
Het |
| Auts2 |
A |
G |
5: 131,475,669 (GRCm39) |
F485L |
probably benign |
Het |
| Ccdc68 |
A |
G |
18: 70,093,510 (GRCm39) |
E239G |
probably damaging |
Het |
| Cdc42bpg |
T |
G |
19: 6,363,487 (GRCm39) |
L449R |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Ddx41 |
G |
T |
13: 55,678,421 (GRCm39) |
S630Y |
probably damaging |
Het |
| Dntt |
T |
C |
19: 41,031,372 (GRCm39) |
L274P |
probably damaging |
Het |
| Fhl4 |
G |
T |
10: 84,934,680 (GRCm39) |
H34N |
possibly damaging |
Het |
| Filip1 |
A |
T |
9: 79,727,571 (GRCm39) |
N349K |
possibly damaging |
Het |
| Gm9894 |
C |
T |
13: 67,913,145 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
A |
G |
11: 97,229,633 (GRCm39) |
S841P |
probably damaging |
Het |
| Gpr35 |
G |
T |
1: 92,910,506 (GRCm39) |
V73L |
probably benign |
Het |
| H2-T13 |
T |
A |
17: 36,392,413 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,128,283 (GRCm39) |
T451A |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,278,259 (GRCm39) |
V1654M |
probably damaging |
Het |
| Htra3 |
G |
T |
5: 35,828,409 (GRCm39) |
A157E |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,902,835 (GRCm39) |
V2405D |
probably damaging |
Het |
| Irs3 |
C |
A |
5: 137,642,139 (GRCm39) |
R433L |
probably benign |
Het |
| Kcmf1 |
G |
A |
6: 72,825,224 (GRCm39) |
Q239* |
probably null |
Het |
| Kcnk9 |
A |
G |
15: 72,384,905 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,530,091 (GRCm39) |
V622A |
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,031,294 (GRCm39) |
I164F |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,066,621 (GRCm39) |
S1087P |
possibly damaging |
Het |
| Mchr1 |
A |
T |
15: 81,119,948 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,135,677 (GRCm39) |
T367A |
probably damaging |
Het |
| Mphosph8 |
A |
C |
14: 56,911,870 (GRCm39) |
K298Q |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
| Mst1 |
A |
C |
9: 107,960,793 (GRCm39) |
D461A |
probably benign |
Het |
| Nckap1l |
A |
T |
15: 103,373,079 (GRCm39) |
S311C |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,594 (GRCm39) |
V78E |
probably damaging |
Het |
| Or4c125 |
T |
A |
2: 89,170,422 (GRCm39) |
M75L |
probably benign |
Het |
| Or5m9b |
C |
T |
2: 85,905,435 (GRCm39) |
A117V |
probably benign |
Het |
| Or8c11 |
A |
C |
9: 38,290,090 (GRCm39) |
K298N |
probably damaging |
Het |
| Pde3a |
T |
G |
6: 141,444,410 (GRCm39) |
C1073G |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,188,012 (GRCm39) |
D3432G |
probably damaging |
Het |
| Ppargc1b |
G |
T |
18: 61,448,932 (GRCm39) |
P130Q |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,645,213 (GRCm39) |
I228T |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,860,480 (GRCm39) |
N349S |
probably benign |
Het |
| Ranbp6 |
C |
T |
19: 29,789,483 (GRCm39) |
V290I |
possibly damaging |
Het |
| Rcan3 |
A |
T |
4: 135,143,914 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
C |
15: 100,906,187 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
C |
T |
2: 164,835,982 (GRCm39) |
T900M |
probably benign |
Het |
| Srsf10 |
A |
G |
4: 135,585,714 (GRCm39) |
Y55C |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,421,444 (GRCm39) |
E450* |
probably null |
Het |
| Tbrg4 |
T |
C |
11: 6,573,832 (GRCm39) |
K130R |
probably benign |
Het |
| Tgm7 |
C |
A |
2: 120,931,546 (GRCm39) |
V206F |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,938,955 (GRCm39) |
D67G |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,637,472 (GRCm39) |
K409R |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,590,096 (GRCm39) |
|
probably benign |
Het |
| Vmn1r171 |
C |
T |
7: 23,332,080 (GRCm39) |
L102F |
possibly damaging |
Het |
| Vmn2r59 |
A |
C |
7: 41,695,916 (GRCm39) |
|
probably benign |
Het |
| Vsig2 |
A |
G |
9: 37,453,986 (GRCm39) |
R191G |
probably damaging |
Het |
| Wdr86 |
T |
A |
5: 24,923,232 (GRCm39) |
Q153H |
probably benign |
Het |
| Wdr87-ps |
C |
G |
7: 29,229,995 (GRCm39) |
|
noncoding transcript |
Het |
| Xxylt1 |
T |
A |
16: 30,826,616 (GRCm39) |
N233I |
probably damaging |
Het |
| Zfp160 |
A |
T |
17: 21,247,139 (GRCm39) |
E563V |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,315,323 (GRCm39) |
E71D |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,816,099 (GRCm39) |
D862G |
possibly damaging |
Het |
| Zfp639 |
A |
C |
3: 32,571,259 (GRCm39) |
Q47P |
possibly damaging |
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 |
|
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 |
|
R3615:Grik5
|
UTSW |
7 |
24,721,996 (GRCm39) |
missense |
probably benign |
0.37 |
|
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'- TTGTTGGAGTCACTGTCCTGCCAC -3'
(R):5'- CATCACGGGAGAACCTCATTCTCAC -3'
Sequencing Primer
(F):5'- TGACCAGGACTTCCCGAC -3'
(R):5'- CTCTGGCTGTCCAATAGAGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation