Incidental Mutation 'R6335:Grik5'
| ID |
512904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik5
|
| Ensembl Gene |
ENSMUSG00000003378 |
| Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
| Synonyms |
KA2, GluRgamma2 |
| MMRRC Submission |
044489-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R6335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24713019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 836
(S836P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003468]
[ENSMUST00000205328]
[ENSMUST00000206134]
|
| AlphaFold |
Q61626 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003468
AA Change: S836P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: S836P
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11a |
T |
C |
8: 12,909,481 (GRCm39) |
|
probably null |
Het |
| Best3 |
G |
T |
10: 116,838,556 (GRCm39) |
V205F |
probably benign |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,960 (GRCm39) |
H210R |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,823,894 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
C |
4: 70,184,849 (GRCm39) |
D1200E |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,967,784 (GRCm39) |
I756N |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,130,560 (GRCm39) |
Q947L |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,715,845 (GRCm39) |
T321A |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,774,724 (GRCm39) |
M87V |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,650,935 (GRCm39) |
S40R |
possibly damaging |
Het |
| Dpep1 |
T |
G |
8: 123,927,391 (GRCm39) |
L315R |
probably damaging |
Het |
| Fam221b |
G |
T |
4: 43,665,942 (GRCm39) |
T223N |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,706,185 (GRCm39) |
V1053E |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,208,973 (GRCm39) |
D227G |
probably damaging |
Het |
| Grik1 |
A |
G |
16: 87,744,794 (GRCm39) |
L486P |
probably damaging |
Het |
| Grpel2 |
T |
C |
18: 61,852,792 (GRCm39) |
K70R |
possibly damaging |
Het |
| Ipo7 |
A |
G |
7: 109,617,675 (GRCm39) |
D15G |
possibly damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,377,772 (GRCm39) |
Y1284H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,072 (GRCm39) |
S692P |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,034,905 (GRCm39) |
L447P |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,550,384 (GRCm39) |
D680G |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,572,004 (GRCm39) |
I172F |
unknown |
Het |
| Musk |
A |
G |
4: 58,366,811 (GRCm39) |
I476M |
probably benign |
Het |
| Myef2 |
T |
C |
2: 124,951,632 (GRCm39) |
T268A |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,060 (GRCm39) |
S702P |
probably damaging |
Het |
| Napa |
G |
T |
7: 15,849,562 (GRCm39) |
S258I |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,504,132 (GRCm39) |
I1039F |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,228,902 (GRCm39) |
S1238G |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,144 (GRCm39) |
V146A |
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,342,734 (GRCm39) |
I46V |
probably benign |
Het |
| Or5w8 |
T |
A |
2: 87,687,811 (GRCm39) |
C97* |
probably null |
Het |
| Pacs1 |
G |
T |
19: 5,210,005 (GRCm39) |
N215K |
probably damaging |
Het |
| Parp10 |
A |
G |
15: 76,126,388 (GRCm39) |
S267P |
probably benign |
Het |
| Pbrm1 |
G |
T |
14: 30,806,052 (GRCm39) |
C995F |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 58,099,607 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
C |
5: 92,383,613 (GRCm39) |
Y499C |
probably damaging |
Het |
| Pramel16 |
G |
T |
4: 143,675,602 (GRCm39) |
T408K |
probably benign |
Het |
| Prex2 |
A |
C |
1: 11,180,544 (GRCm39) |
I370L |
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,872,420 (GRCm39) |
Y1350H |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,124,351 (GRCm39) |
K284E |
probably damaging |
Het |
| Rexo1 |
A |
T |
10: 80,379,915 (GRCm39) |
Y23N |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
| Scn9a |
T |
A |
2: 66,398,608 (GRCm39) |
M1L |
possibly damaging |
Het |
| Serpinb6e |
C |
A |
13: 34,021,805 (GRCm39) |
L174F |
probably benign |
Het |
| Siae |
C |
T |
9: 37,544,277 (GRCm39) |
T275I |
probably benign |
Het |
| Sptbn5 |
C |
A |
2: 119,884,900 (GRCm39) |
|
probably benign |
Het |
| Ss18l2 |
C |
T |
9: 121,541,672 (GRCm39) |
T55I |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,328,518 (GRCm39) |
C163R |
probably damaging |
Het |
| Tanc2 |
C |
T |
11: 105,748,382 (GRCm39) |
R505W |
probably damaging |
Het |
| Tango6 |
C |
A |
8: 107,419,308 (GRCm39) |
P285Q |
possibly damaging |
Het |
| Tdrd9 |
G |
T |
12: 112,008,186 (GRCm39) |
|
probably null |
Het |
| Tead3 |
A |
T |
17: 28,552,299 (GRCm39) |
L307H |
probably damaging |
Het |
| Ticrr |
A |
C |
7: 79,344,031 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
T |
C |
3: 54,224,995 (GRCm39) |
|
probably null |
Het |
| Upb1 |
A |
T |
10: 75,264,135 (GRCm39) |
T194S |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,470,512 (GRCm39) |
N566S |
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,887 (GRCm39) |
S175R |
probably benign |
Het |
| Zscan29 |
T |
C |
2: 120,991,917 (GRCm39) |
N589D |
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 |
|
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 |
|
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'- ACTCTTTGTTGGAGTCACTGTC -3'
(R):5'- ATCCTGAAGCGCAAGTGGTG -3'
Sequencing Primer
(F):5'- GTTGGAGTCACTGTCCTGCC -3'
(R):5'- CACAGGGCCAAAGGTCAGTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation