Incidental Mutation 'R1191:Grik5'
ID |
100795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik5
|
Ensembl Gene |
ENSMUSG00000003378 |
Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
Synonyms |
KA2, GluRgamma2 |
MMRRC Submission |
039263-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R1191 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 24757750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 410
(Q410*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003468]
[ENSMUST00000205328]
[ENSMUST00000206134]
|
AlphaFold |
Q61626 |
Predicted Effect |
probably null
Transcript: ENSMUST00000003468
AA Change: Q410*
|
SMART Domains |
Protein: ENSMUSP00000003468 Gene: ENSMUSG00000003378 AA Change: Q410*
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 |
noncoding transcript
Transcript: ENSMUST00000205661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206095
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206132
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206134
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.1%
- 20x: 87.9%
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd27 |
T |
C |
7: 35,301,912 (GRCm39) |
F144L |
probably damaging |
Het |
C8b |
C |
T |
4: 104,650,520 (GRCm39) |
P377S |
probably damaging |
Het |
Cfi |
C |
A |
3: 129,662,176 (GRCm39) |
T385N |
probably benign |
Het |
Col15a1 |
G |
T |
4: 47,254,083 (GRCm39) |
G300* |
probably null |
Het |
Crlf1 |
G |
A |
8: 70,951,478 (GRCm39) |
C119Y |
probably damaging |
Het |
Dcaf4 |
A |
T |
12: 83,582,741 (GRCm39) |
S279C |
probably damaging |
Het |
Gde1 |
A |
T |
7: 118,304,664 (GRCm39) |
H70Q |
probably damaging |
Het |
Gpt2 |
A |
T |
8: 86,235,901 (GRCm39) |
N179I |
probably damaging |
Het |
Hspa2 |
C |
T |
12: 76,452,655 (GRCm39) |
R450W |
probably damaging |
Het |
Idh3b |
A |
T |
2: 130,123,810 (GRCm39) |
M118K |
probably benign |
Het |
Ighv5-21 |
T |
C |
12: 114,286,423 (GRCm39) |
|
probably benign |
Het |
Il12rb2 |
C |
T |
6: 67,275,200 (GRCm39) |
V642M |
possibly damaging |
Het |
Iqcg |
A |
G |
16: 32,870,313 (GRCm39) |
V60A |
probably benign |
Het |
Irx6 |
T |
A |
8: 93,403,580 (GRCm39) |
Y102N |
probably damaging |
Het |
Itgb6 |
C |
T |
2: 60,483,481 (GRCm39) |
|
probably null |
Het |
Mmp27 |
A |
T |
9: 7,579,067 (GRCm39) |
|
probably null |
Het |
Or10d5j |
A |
T |
9: 39,868,264 (GRCm39) |
M1K |
probably null |
Het |
Or1j21 |
T |
A |
2: 36,683,350 (GRCm39) |
M34K |
probably damaging |
Het |
Or2f2 |
C |
A |
6: 42,767,451 (GRCm39) |
H159Q |
probably benign |
Het |
Or5k8 |
T |
A |
16: 58,644,922 (GRCm39) |
Y50F |
probably benign |
Het |
Or8c8 |
G |
T |
9: 38,165,501 (GRCm39) |
V263F |
probably damaging |
Het |
Pcdhb16 |
A |
G |
18: 37,612,926 (GRCm39) |
R629G |
probably damaging |
Het |
Pde3b |
A |
T |
7: 114,118,810 (GRCm39) |
M650L |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Skint3 |
T |
A |
4: 112,092,939 (GRCm39) |
M1K |
probably null |
Het |
Strn |
T |
C |
17: 78,999,855 (GRCm39) |
Q127R |
possibly damaging |
Het |
Taar2 |
T |
G |
10: 23,816,927 (GRCm39) |
W156G |
probably damaging |
Het |
Trpt1 |
G |
T |
19: 6,974,138 (GRCm39) |
M45I |
probably benign |
Het |
Ubap2l |
T |
C |
3: 89,930,882 (GRCm39) |
T357A |
probably damaging |
Het |
Ubr3 |
C |
T |
2: 69,851,525 (GRCm39) |
R1831* |
probably null |
Het |
Unc79 |
T |
A |
12: 103,013,271 (GRCm39) |
Y287* |
probably null |
Het |
Utrn |
T |
A |
10: 12,509,777 (GRCm39) |
K2398N |
probably benign |
Het |
Vav2 |
A |
T |
2: 27,182,792 (GRCm39) |
|
probably null |
Het |
Vps9d1 |
A |
T |
8: 123,974,706 (GRCm39) |
H249Q |
possibly damaging |
Het |
Vwf |
T |
A |
6: 125,576,215 (GRCm39) |
C432S |
probably damaging |
Het |
Zfp369 |
T |
A |
13: 65,439,776 (GRCm39) |
Y153* |
probably null |
Het |
Zfp760 |
C |
T |
17: 21,942,286 (GRCm39) |
P487L |
probably damaging |
Het |
Zswim2 |
A |
C |
2: 83,754,039 (GRCm39) |
V207G |
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 |
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 |
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'- GGCATGGGTCAGCACTTTAGACTG -3'
(R):5'- ACACTACGCATCCTGGAGAAGTCC -3'
Sequencing Primer
(F):5'- GGGATACACCCCAGTTATTCTG -3'
(R):5'- TGGAGAAGTCCCGCCAG -3'
|
Posted On |
2014-01-15 |