Incidental Mutation 'R5132:Grik5'
ID |
395870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik5
|
Ensembl Gene |
ENSMUSG00000003378 |
Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
Synonyms |
KA2, GluRgamma2 |
MMRRC Submission |
042720-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R5132 (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 24764629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 145
(V145I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003468]
[ENSMUST00000205328]
[ENSMUST00000206134]
|
AlphaFold |
Q61626 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003468
AA Change: V145I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000003468 Gene: ENSMUSG00000003378 AA Change: V145I
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: ENSMUST00000205993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206095
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206134
AA Change: V145I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
Meta Mutation Damage Score |
0.0690 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
A |
T |
1: 156,469,402 (GRCm39) |
K785* |
probably null |
Het |
Acad11 |
A |
T |
9: 104,003,791 (GRCm39) |
I628L |
probably benign |
Het |
Ago1 |
T |
C |
4: 126,355,516 (GRCm39) |
I98V |
probably benign |
Het |
Bach2 |
A |
G |
4: 32,563,396 (GRCm39) |
|
probably benign |
Het |
Calr3 |
C |
T |
8: 73,185,212 (GRCm39) |
|
probably null |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cdc42ep3 |
C |
T |
17: 79,642,803 (GRCm39) |
R39H |
probably damaging |
Het |
Cyp2j5 |
T |
C |
4: 96,517,733 (GRCm39) |
Y493C |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,749,040 (GRCm39) |
D66E |
probably benign |
Het |
Drosha |
A |
G |
15: 12,837,377 (GRCm39) |
D287G |
unknown |
Het |
Gm8888 |
A |
G |
15: 96,664,892 (GRCm39) |
|
noncoding transcript |
Het |
Gpr25 |
G |
T |
1: 136,188,103 (GRCm39) |
A170E |
probably damaging |
Het |
Gria1 |
A |
G |
11: 57,180,225 (GRCm39) |
Y656C |
probably damaging |
Het |
Htt |
T |
C |
5: 35,063,023 (GRCm39) |
V2885A |
possibly damaging |
Het |
Larp6 |
A |
G |
9: 60,644,493 (GRCm39) |
E211G |
probably damaging |
Het |
Magi1 |
C |
A |
6: 93,660,072 (GRCm39) |
|
probably null |
Het |
Mtbp |
A |
G |
15: 55,421,965 (GRCm39) |
S63G |
possibly damaging |
Het |
Ndor1 |
A |
T |
2: 25,137,781 (GRCm39) |
S513T |
probably benign |
Het |
Nsd3 |
A |
G |
8: 26,168,855 (GRCm39) |
D670G |
possibly damaging |
Het |
Or10ag56 |
A |
T |
2: 87,139,282 (GRCm39) |
M50L |
probably damaging |
Het |
Or4k49 |
T |
A |
2: 111,495,344 (GRCm39) |
Y258N |
probably damaging |
Het |
Or5e1 |
T |
C |
7: 108,354,477 (GRCm39) |
V138A |
probably damaging |
Het |
Pcdh7 |
T |
C |
5: 57,885,463 (GRCm39) |
V1061A |
probably benign |
Het |
Pdia4 |
A |
G |
6: 47,773,669 (GRCm39) |
I560T |
probably benign |
Het |
Pomt2 |
A |
G |
12: 87,157,121 (GRCm39) |
F733L |
probably damaging |
Het |
Pprc1 |
T |
C |
19: 46,061,121 (GRCm39) |
|
probably benign |
Het |
Prkca |
T |
C |
11: 108,082,943 (GRCm39) |
|
probably benign |
Het |
Pspc1 |
A |
T |
14: 56,960,707 (GRCm39) |
S473T |
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,147,156 (GRCm39) |
|
probably benign |
Het |
Scn3a |
C |
T |
2: 65,298,548 (GRCm39) |
V1384I |
probably benign |
Het |
Serpinb6a |
C |
T |
13: 34,102,305 (GRCm39) |
D307N |
probably benign |
Het |
Smap2 |
T |
C |
4: 120,830,370 (GRCm39) |
E255G |
possibly damaging |
Het |
Spmip6 |
A |
G |
4: 41,517,178 (GRCm39) |
|
probably benign |
Het |
St7 |
A |
T |
6: 17,854,956 (GRCm39) |
I298F |
probably damaging |
Het |
Tgm7 |
A |
G |
2: 120,934,700 (GRCm39) |
F93L |
probably damaging |
Het |
Timm23 |
A |
T |
14: 31,915,902 (GRCm39) |
D56E |
probably damaging |
Het |
Tmem170 |
A |
T |
8: 112,596,357 (GRCm39) |
M56K |
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 |
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 |
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'- AAGGGGTTCACTGTCACGTG -3'
(R):5'- GCCATATCTGTGGGGAGAAG -3'
Sequencing Primer
(F):5'- AATGTCCCAGTTCCTGAAGG -3'
(R):5'- CATATCTGTGGGGAGAAGGAGGTG -3'
|
Posted On |
2016-06-21 |