Incidental Mutation 'R3410:Grik5'
| ID |
258459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik5
|
| Ensembl Gene |
ENSMUSG00000003378 |
| Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
| Synonyms |
KA2, GluRgamma2 |
| MMRRC Submission |
040628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R3410 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24762397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 198
(D198G)
|
| 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: D198G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: D198G
| 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: ENSMUST00000206095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206134
AA Change: D198G
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.8921 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
T |
C |
8: 120,342,708 (GRCm39) |
V418A |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,901,345 (GRCm39) |
T911A |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,427,619 (GRCm39) |
F62S |
possibly damaging |
Het |
| Adgra3 |
A |
G |
5: 50,159,272 (GRCm39) |
V326A |
probably damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,316,114 (GRCm39) |
F569S |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,130,261 (GRCm39) |
T30A |
probably null |
Het |
| Arnt2 |
G |
A |
7: 83,924,655 (GRCm39) |
R391W |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,576,196 (GRCm39) |
V817A |
probably damaging |
Het |
| Atp13a4 |
G |
T |
16: 29,232,567 (GRCm39) |
T923K |
probably damaging |
Het |
| Atp5po |
C |
T |
16: 91,725,794 (GRCm39) |
R64H |
probably damaging |
Het |
| Ccdc185 |
T |
G |
1: 182,576,313 (GRCm39) |
Q125H |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,436,006 (GRCm39) |
C10S |
probably damaging |
Het |
| Cct2 |
T |
C |
10: 116,897,968 (GRCm39) |
N73S |
probably benign |
Het |
| Clock |
G |
A |
5: 76,377,401 (GRCm39) |
Q633* |
probably null |
Het |
| Col6a2 |
T |
C |
10: 76,439,193 (GRCm39) |
I826V |
probably benign |
Het |
| Cpsf1 |
G |
T |
15: 76,485,981 (GRCm39) |
Y396* |
probably null |
Het |
| Dnah1 |
A |
T |
14: 30,991,774 (GRCm39) |
M3076K |
possibly damaging |
Het |
| Dxo |
A |
G |
17: 35,057,825 (GRCm39) |
N177D |
probably damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,167,472 (GRCm39) |
V95E |
possibly damaging |
Het |
| Galnt6 |
T |
C |
15: 100,597,018 (GRCm39) |
N383D |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Gsdmc4 |
A |
G |
15: 63,763,895 (GRCm39) |
S401P |
probably benign |
Het |
| Gspt1 |
A |
T |
16: 11,047,109 (GRCm39) |
D435E |
probably damaging |
Het |
| Hsf2 |
T |
C |
10: 57,381,378 (GRCm39) |
S266P |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,708,050 (GRCm39) |
D721G |
probably benign |
Het |
| Klhl7 |
G |
T |
5: 24,343,319 (GRCm39) |
V212L |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,851,809 (GRCm39) |
N21I |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,215,197 (GRCm39) |
N196S |
unknown |
Het |
| Lama3 |
G |
C |
18: 12,546,915 (GRCm39) |
|
probably null |
Het |
| Mcm5 |
T |
C |
8: 75,848,272 (GRCm39) |
M507T |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,372,553 (GRCm39) |
R814G |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,449,456 (GRCm39) |
E186G |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,095,569 (GRCm39) |
K816E |
possibly damaging |
Het |
| Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,284,207 (GRCm39) |
M60V |
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or5p63 |
G |
A |
7: 107,811,490 (GRCm39) |
P82L |
possibly damaging |
Het |
| Or5p69 |
A |
T |
7: 107,967,551 (GRCm39) |
I285F |
possibly damaging |
Het |
| Or8g28 |
G |
T |
9: 39,169,897 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Ovol2 |
A |
G |
2: 144,159,796 (GRCm39) |
S82P |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,925,381 (GRCm39) |
E86G |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
| Scml4 |
A |
G |
10: 42,833,667 (GRCm39) |
Y327C |
probably damaging |
Het |
| Serpina3n |
A |
G |
12: 104,377,536 (GRCm39) |
E263G |
possibly damaging |
Het |
| Six4 |
A |
G |
12: 73,159,657 (GRCm39) |
F101S |
probably damaging |
Het |
| Sltm |
T |
G |
9: 70,493,240 (GRCm39) |
L728V |
probably damaging |
Het |
| Sptb |
T |
G |
12: 76,657,589 (GRCm39) |
K1311Q |
possibly damaging |
Het |
| Sycp1 |
T |
C |
3: 102,748,357 (GRCm39) |
K812E |
possibly damaging |
Het |
| Tenm4 |
T |
C |
7: 96,501,737 (GRCm39) |
Y1314H |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,073,952 (GRCm39) |
M288K |
probably benign |
Het |
| Toporsl |
T |
C |
4: 52,610,970 (GRCm39) |
S288P |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,772,749 (GRCm39) |
N2415K |
possibly damaging |
Het |
| Vmn2r65 |
T |
C |
7: 84,595,896 (GRCm39) |
I263V |
probably benign |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,628 (GRCm39) |
E326V |
probably damaging |
Het |
| Wdr81 |
A |
G |
11: 75,343,758 (GRCm39) |
I503T |
probably 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 |
|
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 |
|
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'- ATGGCTGCGTTTCACAGAC -3'
(R):5'- AGCATGCCCTCCAGTCTTAG -3'
Sequencing Primer
(F):5'- ACTGTCCCAGGTCATGTGAC -3'
(R):5'- TCCAGTCTTAGGCCCAGCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation