Incidental Mutation 'R5113:Grik5'
ID |
394017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik5
|
Ensembl Gene |
ENSMUSG00000003378 |
Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
Synonyms |
KA2, GluRgamma2 |
MMRRC Submission |
042701-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R5113 (G1)
|
Quality Score |
197 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24714952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 681
(S681P)
|
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: S681P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003468 Gene: ENSMUSG00000003378 AA Change: S681P
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12e |
A |
G |
11: 70,206,821 (GRCm39) |
V622A |
possibly damaging |
Het |
Ankef1 |
A |
G |
2: 136,394,361 (GRCm39) |
N590S |
probably benign |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Ano3 |
A |
T |
2: 110,491,825 (GRCm39) |
N867K |
possibly damaging |
Het |
Ash1l |
T |
C |
3: 88,973,582 (GRCm39) |
V2547A |
probably damaging |
Het |
Chil5 |
A |
T |
3: 105,925,294 (GRCm39) |
V209E |
possibly damaging |
Het |
Cltc |
A |
T |
11: 86,613,147 (GRCm39) |
C459S |
probably damaging |
Het |
Col6a4 |
T |
A |
9: 105,944,159 (GRCm39) |
D1105V |
possibly damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,151,882 (GRCm39) |
D199G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,742,902 (GRCm39) |
|
probably null |
Het |
Cysrt1 |
A |
T |
2: 25,129,363 (GRCm39) |
C50S |
possibly damaging |
Het |
Dapk1 |
A |
G |
13: 60,869,592 (GRCm39) |
K278R |
probably benign |
Het |
Eefsec |
C |
A |
6: 88,258,557 (GRCm39) |
S512I |
probably damaging |
Het |
Emilin1 |
T |
C |
5: 31,077,964 (GRCm39) |
F908L |
possibly damaging |
Het |
Eml1 |
T |
C |
12: 108,503,596 (GRCm39) |
V731A |
possibly damaging |
Het |
Erc2 |
T |
C |
14: 27,374,829 (GRCm39) |
S16P |
probably benign |
Het |
Gfpt2 |
A |
G |
11: 49,714,626 (GRCm39) |
R342G |
probably damaging |
Het |
Gpr142 |
A |
T |
11: 114,695,143 (GRCm39) |
Q36L |
probably benign |
Het |
Hecw1 |
A |
T |
13: 14,520,614 (GRCm39) |
S208T |
possibly damaging |
Het |
Hmgcr |
G |
A |
13: 96,793,240 (GRCm39) |
A464V |
probably benign |
Het |
Igkv2-109 |
A |
G |
6: 68,280,069 (GRCm39) |
T97A |
possibly damaging |
Het |
Ino80 |
G |
T |
2: 119,262,426 (GRCm39) |
Q687K |
probably damaging |
Het |
Kdm4d |
T |
C |
9: 14,375,409 (GRCm39) |
N150D |
probably damaging |
Het |
Klf4 |
A |
G |
4: 55,530,481 (GRCm39) |
I210T |
possibly damaging |
Het |
Klkb1 |
C |
A |
8: 45,723,734 (GRCm39) |
Q560H |
probably benign |
Het |
Lce1a2 |
A |
T |
3: 92,576,442 (GRCm39) |
V40E |
unknown |
Het |
Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
Mipol1 |
C |
T |
12: 57,543,285 (GRCm39) |
T393I |
probably benign |
Het |
Mst1 |
A |
G |
9: 107,959,446 (GRCm39) |
D244G |
probably damaging |
Het |
Nexn |
G |
A |
3: 151,949,525 (GRCm39) |
R258C |
probably damaging |
Het |
Optc |
T |
C |
1: 133,828,715 (GRCm39) |
|
probably benign |
Het |
Or10d5 |
T |
C |
9: 39,861,221 (GRCm39) |
N282S |
probably damaging |
Het |
Or11h23 |
A |
C |
14: 50,948,371 (GRCm39) |
I195L |
probably benign |
Het |
Or6c207 |
A |
G |
10: 129,104,535 (GRCm39) |
I219T |
probably damaging |
Het |
Or7a37 |
A |
G |
10: 78,806,037 (GRCm39) |
I185V |
probably benign |
Het |
Pabpc2 |
C |
A |
18: 39,908,436 (GRCm39) |
P567Q |
probably benign |
Het |
Pierce2 |
T |
A |
9: 72,887,175 (GRCm39) |
R111* |
probably null |
Het |
Ppm1j |
A |
G |
3: 104,691,990 (GRCm39) |
H324R |
possibly damaging |
Het |
Reg3g |
A |
T |
6: 78,443,544 (GRCm39) |
|
probably null |
Het |
Sipa1l1 |
C |
T |
12: 82,487,682 (GRCm39) |
A1652V |
probably benign |
Het |
Ski |
T |
C |
4: 155,243,849 (GRCm39) |
T554A |
probably benign |
Het |
Slfn5 |
G |
A |
11: 82,852,522 (GRCm39) |
V883M |
probably benign |
Het |
Stradb |
T |
C |
1: 59,030,333 (GRCm39) |
|
probably benign |
Het |
Tex19.1 |
A |
G |
11: 121,038,625 (GRCm39) |
T328A |
probably benign |
Het |
Tpsab1 |
T |
C |
17: 25,564,373 (GRCm39) |
N27S |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,643,244 (GRCm39) |
L13225Q |
probably damaging |
Het |
Vmn1r28 |
A |
G |
6: 58,242,843 (GRCm39) |
T229A |
probably benign |
Het |
Wapl |
A |
G |
14: 34,446,711 (GRCm39) |
K600E |
probably damaging |
Het |
Zfp217 |
T |
C |
2: 169,955,978 (GRCm39) |
|
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 |
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'- TGAGGTTGCAATTGAGGCGC -3'
(R):5'- AGTAGACATCCTTGACCTGTCC -3'
Sequencing Primer
(F):5'- CAATTGAGGCGCCTGTGGTAC -3'
(R):5'- CCTGGTGAATGGGATCCAATGC -3'
|
Posted On |
2016-06-15 |