Incidental Mutation 'R8879:Grik5'
ID |
676764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik5
|
Ensembl Gene |
ENSMUSG00000003378 |
Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
Synonyms |
KA2, GluRgamma2 |
MMRRC Submission |
068747-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R8879 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24722489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 540
(D540V)
|
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: D540V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000003468 Gene: ENSMUSG00000003378 AA Change: D540V
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (69/69) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
C |
T |
15: 57,885,905 (GRCm39) |
V326M |
probably damaging |
Het |
Adap2 |
T |
A |
11: 80,047,785 (GRCm39) |
H80Q |
probably benign |
Het |
Ang4 |
T |
C |
14: 52,001,943 (GRCm39) |
T2A |
probably benign |
Het |
Arf2 |
T |
C |
11: 103,870,585 (GRCm39) |
|
probably null |
Het |
B3gnt4 |
A |
G |
5: 123,649,211 (GRCm39) |
D192G |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,102,103 (GRCm39) |
I54V |
probably benign |
Het |
Catsper3 |
A |
G |
13: 55,952,708 (GRCm39) |
T202A |
probably benign |
Het |
Cenpe |
T |
A |
3: 134,965,862 (GRCm39) |
D2113E |
probably damaging |
Het |
Clasp2 |
T |
C |
9: 113,602,773 (GRCm39) |
V191A |
probably benign |
Het |
Col5a1 |
G |
T |
2: 27,904,170 (GRCm39) |
A1356S |
unknown |
Het |
Cuzd1 |
A |
G |
7: 130,910,577 (GRCm39) |
S573P |
probably damaging |
Het |
Cyp1a2 |
C |
A |
9: 57,589,168 (GRCm39) |
M215I |
possibly damaging |
Het |
Dcaf17 |
T |
A |
2: 70,893,746 (GRCm39) |
I122K |
possibly damaging |
Het |
Dhcr24 |
A |
G |
4: 106,431,006 (GRCm39) |
I232V |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,895,181 (GRCm39) |
E3570G |
probably damaging |
Het |
Dnaja4 |
A |
T |
9: 54,621,988 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,581,781 (GRCm39) |
I41T |
probably benign |
Het |
Ehd1 |
A |
G |
19: 6,348,354 (GRCm39) |
D444G |
probably damaging |
Het |
Ehmt1 |
T |
A |
2: 24,726,488 (GRCm39) |
M766L |
possibly damaging |
Het |
Eno4 |
A |
G |
19: 58,959,154 (GRCm39) |
I613M |
probably benign |
Het |
Exoc3l |
A |
T |
8: 106,017,181 (GRCm39) |
M602K |
|
Het |
Fam107a |
C |
T |
14: 8,301,352 (GRCm38) |
|
probably null |
Het |
Frem3 |
A |
T |
8: 81,339,777 (GRCm39) |
D690V |
probably damaging |
Het |
Gm19410 |
A |
T |
8: 36,239,022 (GRCm39) |
D97V |
probably damaging |
Het |
Hint1 |
T |
A |
11: 54,760,769 (GRCm39) |
D69E |
probably benign |
Het |
Krt13 |
T |
C |
11: 100,010,211 (GRCm39) |
T257A |
probably benign |
Het |
Lpin2 |
T |
C |
17: 71,549,749 (GRCm39) |
L676P |
probably damaging |
Het |
Lrguk |
A |
G |
6: 34,006,618 (GRCm39) |
E76G |
probably benign |
Het |
Lrrc8a |
A |
G |
2: 30,146,310 (GRCm39) |
M375V |
probably benign |
Het |
Lrrtm3 |
T |
C |
10: 63,925,017 (GRCm39) |
Q50R |
possibly damaging |
Het |
Mmrn1 |
T |
A |
6: 60,953,513 (GRCm39) |
L598Q |
probably damaging |
Het |
Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
Neb |
T |
C |
2: 52,125,592 (GRCm39) |
D475G |
|
Het |
Notch2 |
A |
G |
3: 98,042,915 (GRCm39) |
S1427G |
possibly damaging |
Het |
Odad4 |
G |
T |
11: 100,457,752 (GRCm39) |
E452* |
probably null |
Het |
Opcml |
T |
C |
9: 28,813,447 (GRCm39) |
F246S |
probably damaging |
Het |
Or10al2 |
C |
A |
17: 37,983,302 (GRCm39) |
Y129* |
probably null |
Het |
Or2ag1b |
A |
T |
7: 106,288,296 (GRCm39) |
I214N |
probably damaging |
Het |
Or56a42-ps1 |
A |
G |
7: 104,775,893 (GRCm39) |
V195A |
probably benign |
Het |
Or6c69 |
A |
G |
10: 129,747,731 (GRCm39) |
C139R |
probably damaging |
Het |
Or8g33 |
A |
C |
9: 39,337,515 (GRCm39) |
V284G |
possibly damaging |
Het |
Pdzd2 |
C |
A |
15: 12,402,405 (GRCm39) |
V729F |
probably damaging |
Het |
Pias2 |
C |
T |
18: 77,234,464 (GRCm39) |
Q565* |
probably null |
Het |
Pnp |
T |
A |
14: 51,188,177 (GRCm39) |
|
probably null |
Het |
Ptpn18 |
T |
C |
1: 34,502,211 (GRCm39) |
S76P |
probably benign |
Het |
Qtrt2 |
A |
T |
16: 43,683,560 (GRCm39) |
L304Q |
probably damaging |
Het |
Rad51ap2 |
A |
T |
12: 11,507,401 (GRCm39) |
E441V |
possibly damaging |
Het |
Ranbp2 |
T |
A |
10: 58,313,711 (GRCm39) |
V1477E |
probably benign |
Het |
Repin1 |
C |
T |
6: 48,574,367 (GRCm39) |
T432I |
possibly damaging |
Het |
Rest |
G |
A |
5: 77,430,358 (GRCm39) |
G926R |
probably benign |
Het |
Rnft1 |
T |
A |
11: 86,377,516 (GRCm39) |
F143L |
possibly damaging |
Het |
Sema3e |
A |
T |
5: 14,282,108 (GRCm39) |
I415L |
probably benign |
Het |
Slc10a1 |
T |
A |
12: 81,014,369 (GRCm39) |
N117I |
probably damaging |
Het |
Slc25a23 |
G |
A |
17: 57,366,709 (GRCm39) |
|
probably benign |
Het |
Slc2a2 |
T |
C |
3: 28,767,951 (GRCm39) |
S160P |
possibly damaging |
Het |
Srrd |
A |
G |
5: 112,486,322 (GRCm39) |
V178A |
possibly damaging |
Het |
Tmigd3 |
G |
T |
3: 105,829,277 (GRCm39) |
G198C |
probably benign |
Het |
Trbv28 |
G |
A |
6: 41,248,339 (GRCm39) |
M1I |
probably null |
Het |
Tril |
A |
G |
6: 53,796,569 (GRCm39) |
S218P |
probably damaging |
Het |
Trip11 |
T |
C |
12: 101,828,857 (GRCm39) |
K1749R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,660,995 (GRCm39) |
V12011A |
|
Het |
Ubr4 |
T |
G |
4: 139,137,829 (GRCm39) |
F1093V |
probably benign |
Het |
Urb2 |
C |
A |
8: 124,755,142 (GRCm39) |
A283E |
probably benign |
Het |
Usp43 |
T |
A |
11: 67,789,707 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
A |
T |
6: 58,242,669 (GRCm39) |
I171F |
probably benign |
Het |
Vps33a |
G |
A |
5: 123,671,962 (GRCm39) |
R469W |
probably damaging |
Het |
Zfp202 |
G |
A |
9: 40,123,053 (GRCm39) |
R605Q |
probably damaging |
Het |
Zpbp2 |
A |
T |
11: 98,445,446 (GRCm39) |
H158L |
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 |
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 |
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'- GCAGTGTTCAGCCAACAGAAG -3'
(R):5'- ACATGGTATGTCTCCCTGGG -3'
Sequencing Primer
(F):5'- TGTTCAGCCAACAGAAGAGGGAC -3'
(R):5'- AGTGGCTGTGACCTAGCACAG -3'
|
Posted On |
2021-07-15 |