Incidental Mutation 'R0077:Grik5'
ID |
19478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik5
|
Ensembl Gene |
ENSMUSG00000003378 |
Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
Synonyms |
KA2, GluRgamma2 |
MMRRC Submission |
038364-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R0077 (G1)
|
Quality Score |
212 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24722805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 497
(V497E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003468]
[ENSMUST00000205328]
[ENSMUST00000206134]
|
AlphaFold |
Q61626 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003468
AA Change: V497E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000003468 Gene: ENSMUSG00000003378 AA Change: V497E
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 |
0.9407 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.4%
- 20x: 90.5%
|
Validation Efficiency |
83% (159/192) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
C |
5: 81,919,532 (GRCm39) |
|
probably benign |
Het |
Adgrl4 |
A |
G |
3: 151,223,418 (GRCm39) |
I624V |
probably damaging |
Het |
AI661453 |
A |
G |
17: 47,780,287 (GRCm39) |
|
probably benign |
Het |
Alg12 |
C |
T |
15: 88,700,181 (GRCm39) |
E60K |
probably damaging |
Het |
Angel2 |
A |
T |
1: 190,665,284 (GRCm39) |
N72Y |
possibly damaging |
Het |
Ank1 |
C |
A |
8: 23,630,183 (GRCm39) |
P81Q |
probably damaging |
Het |
Atp6v1c2 |
A |
T |
12: 17,371,613 (GRCm39) |
D61E |
probably damaging |
Het |
Bpi |
T |
A |
2: 158,103,254 (GRCm39) |
M83K |
probably damaging |
Het |
Capn7 |
A |
G |
14: 31,090,072 (GRCm39) |
I642V |
probably benign |
Het |
Ccdc134 |
T |
C |
15: 82,015,938 (GRCm39) |
|
probably benign |
Het |
Ccr3 |
C |
T |
9: 123,829,061 (GRCm39) |
T132I |
probably damaging |
Het |
Cfap65 |
C |
A |
1: 74,971,077 (GRCm39) |
W80C |
probably damaging |
Het |
Chaf1a |
T |
A |
17: 56,354,384 (GRCm39) |
I218K |
unknown |
Het |
Ddx23 |
A |
G |
15: 98,554,481 (GRCm39) |
|
probably null |
Het |
Dmkn |
A |
G |
7: 30,464,719 (GRCm39) |
S231G |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,525,514 (GRCm39) |
I1446T |
unknown |
Het |
Fmnl1 |
T |
C |
11: 103,080,795 (GRCm39) |
F318S |
probably damaging |
Het |
Gtf2ird2 |
T |
C |
5: 134,242,925 (GRCm39) |
Y380H |
probably damaging |
Het |
Hecw2 |
C |
T |
1: 53,907,990 (GRCm39) |
|
probably benign |
Het |
Hspb7 |
A |
G |
4: 141,151,358 (GRCm39) |
I167V |
probably damaging |
Het |
Kcnh2 |
T |
A |
5: 24,527,700 (GRCm39) |
N884I |
probably benign |
Het |
Krba1 |
T |
C |
6: 48,382,159 (GRCm39) |
|
probably benign |
Het |
Krt18 |
G |
T |
15: 101,939,409 (GRCm39) |
R294L |
probably benign |
Het |
Lctl |
T |
A |
9: 64,029,389 (GRCm39) |
M1K |
probably null |
Het |
Lingo2 |
G |
A |
4: 35,708,375 (GRCm39) |
S535F |
possibly damaging |
Het |
Lrba |
A |
C |
3: 86,449,995 (GRCm39) |
N2105H |
probably damaging |
Het |
Lrrc10 |
A |
G |
10: 116,881,419 (GRCm39) |
D31G |
probably damaging |
Het |
Lrrtm1 |
T |
A |
6: 77,220,855 (GRCm39) |
V104E |
probably damaging |
Het |
Mgat3 |
C |
T |
15: 80,096,778 (GRCm39) |
T535I |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,552,503 (GRCm39) |
I1780V |
possibly damaging |
Het |
Nlrc4 |
A |
G |
17: 74,753,826 (GRCm39) |
W186R |
probably damaging |
Het |
Nr2c1 |
T |
A |
10: 94,024,117 (GRCm39) |
F441I |
probably benign |
Het |
Obscn |
A |
G |
11: 58,942,347 (GRCm39) |
|
probably benign |
Het |
Or1p1 |
T |
C |
11: 74,179,501 (GRCm39) |
F10L |
probably benign |
Het |
Or2a56 |
T |
C |
6: 42,932,707 (GRCm39) |
S92P |
probably benign |
Het |
Or56b34 |
T |
C |
7: 104,937,726 (GRCm39) |
V142A |
probably damaging |
Het |
Or5au1 |
T |
C |
14: 52,273,442 (GRCm39) |
N42S |
possibly damaging |
Het |
Osr1 |
A |
T |
12: 9,629,691 (GRCm39) |
Y188F |
probably damaging |
Het |
Pak2 |
A |
T |
16: 31,852,661 (GRCm39) |
N293K |
possibly damaging |
Het |
Pappa |
A |
T |
4: 65,226,049 (GRCm39) |
T1301S |
probably damaging |
Het |
Pde4dip |
G |
A |
3: 97,660,442 (GRCm39) |
Q679* |
probably null |
Het |
Pik3r5 |
T |
A |
11: 68,377,448 (GRCm39) |
|
probably null |
Het |
Plbd2 |
C |
T |
5: 120,624,104 (GRCm39) |
|
probably null |
Het |
Ppp1r3a |
G |
T |
6: 14,754,516 (GRCm39) |
P244T |
possibly damaging |
Het |
Pum1 |
C |
A |
4: 130,499,985 (GRCm39) |
R960S |
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,315,169 (GRCm39) |
Y845H |
probably damaging |
Het |
Rbms1 |
A |
T |
2: 60,589,179 (GRCm39) |
M287K |
possibly damaging |
Het |
Rdh1 |
A |
T |
10: 127,595,906 (GRCm39) |
I34F |
probably damaging |
Het |
Rgl3 |
T |
A |
9: 21,885,398 (GRCm39) |
Q644L |
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,768,340 (GRCm39) |
S393P |
probably damaging |
Het |
Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
S100a11 |
A |
C |
3: 93,431,509 (GRCm39) |
|
probably null |
Het |
Septin4 |
T |
C |
11: 87,472,022 (GRCm39) |
S11P |
probably benign |
Het |
Serpina1c |
T |
C |
12: 103,862,350 (GRCm39) |
S322G |
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,248,762 (GRCm39) |
C385S |
probably damaging |
Het |
Shank2 |
A |
T |
7: 143,746,204 (GRCm39) |
I193F |
possibly damaging |
Het |
Slc4a11 |
G |
T |
2: 130,528,221 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Tbcd |
C |
A |
11: 121,485,100 (GRCm39) |
Q761K |
probably benign |
Het |
Tmed6 |
C |
T |
8: 107,792,198 (GRCm39) |
V16M |
probably damaging |
Het |
Tmem229a |
T |
C |
6: 24,955,701 (GRCm39) |
T18A |
probably benign |
Het |
Tsc1 |
T |
A |
2: 28,568,955 (GRCm39) |
|
probably benign |
Het |
Ube2m |
T |
C |
7: 12,769,657 (GRCm39) |
N49D |
probably damaging |
Het |
Ubqlnl |
T |
C |
7: 103,799,254 (GRCm39) |
D81G |
probably damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,449,332 (GRCm39) |
V302A |
probably benign |
Het |
Vmn2r73 |
T |
A |
7: 85,525,075 (GRCm39) |
R24S |
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,130,538 (GRCm39) |
S236I |
probably damaging |
Het |
Xpot |
A |
T |
10: 121,441,544 (GRCm39) |
N560K |
probably benign |
Het |
Yipf3 |
A |
G |
17: 46,562,503 (GRCm39) |
T303A |
probably benign |
Het |
Zfp790 |
T |
C |
7: 29,524,300 (GRCm39) |
W19R |
probably damaging |
Het |
Zfp846 |
T |
C |
9: 20,505,303 (GRCm39) |
C388R |
probably benign |
Het |
Zpr1 |
T |
A |
9: 46,184,634 (GRCm39) |
I47N |
probably 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 |
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 |
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'- ACTGAGAAGCCATAGTACCTGACCC -3'
(R):5'- CCAAGGTCCCAGAGCAAGCTAATG -3'
Sequencing Primer
(F):5'- ACCCGCAGGTCCACTTTAG -3'
(R):5'- gagagagagagagagagagagag -3'
|
Posted On |
2013-04-11 |