Incidental Mutation 'R6820:Grik5'
| ID |
537564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik5
|
| Ensembl Gene |
ENSMUSG00000003378 |
| Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
| Synonyms |
KA2, GluRgamma2 |
| MMRRC Submission |
044932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R6820 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24745780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 431
(R431Q)
|
| 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: R431Q
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: R431Q
| 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 |
0.3029 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
A |
2: 93,673,266 (GRCm39) |
N141Y |
probably null |
Het |
| Chkb |
A |
G |
15: 89,312,379 (GRCm39) |
L46P |
probably damaging |
Het |
| Col9a3 |
G |
A |
2: 180,248,927 (GRCm39) |
V260M |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,800,683 (GRCm39) |
I739T |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,959,826 (GRCm39) |
H2620R |
probably damaging |
Het |
| Dsel |
A |
G |
1: 111,787,547 (GRCm39) |
V996A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,250,337 (GRCm39) |
L1757S |
probably damaging |
Het |
| Exoc5 |
A |
T |
14: 49,286,387 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
T |
13: 49,034,468 (GRCm39) |
V1048E |
possibly damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,311,079 (GRCm39) |
T377S |
probably benign |
Het |
| Fbxw28 |
A |
T |
9: 109,167,493 (GRCm39) |
F88Y |
probably damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,328,954 (GRCm39) |
T92A |
probably benign |
Het |
| Hoxc13 |
A |
G |
15: 102,830,257 (GRCm39) |
Y212C |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,102,909 (GRCm39) |
I742V |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,174,965 (GRCm39) |
T351A |
probably damaging |
Het |
| Mlh3 |
T |
C |
12: 85,294,497 (GRCm39) |
D1233G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,982,756 (GRCm39) |
D1525G |
probably damaging |
Het |
| Nme5 |
T |
C |
18: 34,704,626 (GRCm39) |
Y73C |
probably damaging |
Het |
| Nr3c2 |
T |
C |
8: 77,969,086 (GRCm39) |
V957A |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,863,459 (GRCm39) |
S301P |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,942,019 (GRCm39) |
D5013G |
probably damaging |
Het |
| Or4f54 |
C |
T |
2: 111,123,455 (GRCm39) |
P281S |
probably damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,298 (GRCm39) |
V214A |
probably benign |
Het |
| Or8g51 |
A |
G |
9: 38,608,771 (GRCm39) |
V297A |
possibly damaging |
Het |
| Pak1 |
A |
G |
7: 97,535,586 (GRCm39) |
N226D |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
| Pkp3 |
T |
C |
7: 140,659,757 (GRCm39) |
|
probably null |
Het |
| Prxl2b |
A |
T |
4: 154,982,623 (GRCm39) |
D50E |
probably damaging |
Het |
| Psd |
G |
T |
19: 46,309,283 (GRCm39) |
A558E |
probably damaging |
Het |
| Psmd14 |
C |
A |
2: 61,607,068 (GRCm39) |
H172N |
probably benign |
Het |
| Pygb |
G |
T |
2: 150,658,674 (GRCm39) |
W366L |
possibly damaging |
Het |
| Rbm39 |
A |
T |
2: 156,021,146 (GRCm39) |
M1K |
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,339,664 (GRCm39) |
I3421T |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,932,790 (GRCm39) |
V88A |
probably damaging |
Het |
| Tha1 |
T |
C |
11: 117,762,504 (GRCm39) |
E80G |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,341,583 (GRCm39) |
V243A |
probably damaging |
Het |
| Tmem215 |
T |
C |
4: 40,473,926 (GRCm39) |
M1T |
probably null |
Het |
| Tpm2 |
A |
G |
4: 43,518,443 (GRCm39) |
Y221H |
probably damaging |
Het |
| Ubap1 |
C |
T |
4: 41,379,854 (GRCm39) |
P356L |
probably benign |
Het |
| Wbp2nl |
G |
T |
15: 82,197,996 (GRCm39) |
A178S |
possibly damaging |
Het |
| Wdr54 |
A |
T |
6: 83,131,601 (GRCm39) |
S139T |
probably benign |
Het |
| Wipi2 |
G |
C |
5: 142,615,555 (GRCm39) |
Q14H |
probably benign |
Het |
| Zan |
T |
C |
5: 137,406,106 (GRCm39) |
|
probably benign |
Het |
| Zfp735 |
A |
G |
11: 73,579,783 (GRCm39) |
M1V |
probably null |
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 |
|
|
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'- GAGTTCTCCAACCATGCCTGT -3'
(R):5'- TCTAAAGGAGTATGTGCACCCG -3'
Sequencing Primer
(F):5'- TGTCCAGGAACCGTTGGG -3'
(R):5'- CTCAGCAGTTCAGAGCATTGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation