Incidental Mutation 'IGL02652:Grik4'
ID |
302194 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Grik4
|
Ensembl Gene |
ENSMUSG00000032017 |
Gene Name |
glutamate receptor, ionotropic, kainate 4 |
Synonyms |
KA1, 6330551K01Rik, GluRgamma1, KA-1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL02652
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42586573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 94
(V94A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034515]
[ENSMUST00000114865]
|
AlphaFold |
Q8BMF5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034515
AA Change: V94A
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034515 Gene: ENSMUSG00000032017 AA Change: V94A
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
41 |
382 |
2.7e-60 |
PFAM |
PBPe
|
417 |
786 |
1.88e-132 |
SMART |
Lig_chan-Glu_bd
|
427 |
491 |
5.91e-31 |
SMART |
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
low complexity region
|
900 |
913 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114865
AA Change: V94A
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110515 Gene: ENSMUSG00000032017 AA Change: V94A
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
41 |
382 |
5.1e-66 |
PFAM |
PBPe
|
417 |
786 |
1.88e-132 |
SMART |
Lig_chan-Glu_bd
|
427 |
491 |
5.91e-31 |
SMART |
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
low complexity region
|
900 |
913 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced GYKI-resistant excitatory postsynaptic current. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap28 |
A |
T |
17: 68,191,795 (GRCm39) |
D139E |
probably benign |
Het |
Asph |
C |
T |
4: 9,529,984 (GRCm39) |
V347I |
probably benign |
Het |
Ccdc138 |
A |
T |
10: 58,348,901 (GRCm39) |
D149V |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,991,921 (GRCm39) |
|
probably benign |
Het |
Cnnm2 |
G |
A |
19: 46,751,650 (GRCm39) |
R480Q |
probably damaging |
Het |
Col24a1 |
C |
A |
3: 145,198,056 (GRCm39) |
S1321* |
probably null |
Het |
Cops6 |
T |
G |
5: 138,159,700 (GRCm39) |
|
probably null |
Het |
Crim1 |
G |
A |
17: 78,623,106 (GRCm39) |
A435T |
probably damaging |
Het |
Cttn |
G |
T |
7: 143,995,468 (GRCm39) |
Q382K |
probably benign |
Het |
Dhx38 |
A |
G |
8: 110,282,761 (GRCm39) |
L635P |
probably damaging |
Het |
Dmtf1 |
T |
A |
5: 9,171,853 (GRCm39) |
T458S |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,366,333 (GRCm39) |
F2682S |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,072,087 (GRCm39) |
Q2413L |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,561 (GRCm39) |
|
probably null |
Het |
Engase |
C |
T |
11: 118,369,776 (GRCm39) |
P63S |
probably damaging |
Het |
Heatr6 |
T |
C |
11: 83,660,558 (GRCm39) |
V566A |
probably damaging |
Het |
Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
Inpp4b |
G |
A |
8: 82,497,429 (GRCm39) |
|
probably benign |
Het |
Mertk |
A |
G |
2: 128,643,190 (GRCm39) |
E863G |
probably benign |
Het |
Muc19 |
T |
A |
15: 91,762,009 (GRCm39) |
|
noncoding transcript |
Het |
Myo9a |
T |
A |
9: 59,771,211 (GRCm39) |
F928I |
probably damaging |
Het |
Nyap2 |
T |
C |
1: 81,219,435 (GRCm39) |
Y486H |
probably damaging |
Het |
Oas1e |
T |
C |
5: 120,933,470 (GRCm39) |
R32G |
probably damaging |
Het |
Or14j2 |
A |
T |
17: 37,885,836 (GRCm39) |
Y159* |
probably null |
Het |
Or4k48 |
A |
G |
2: 111,475,839 (GRCm39) |
F168L |
probably benign |
Het |
Osbpl6 |
G |
A |
2: 76,423,798 (GRCm39) |
R848Q |
probably damaging |
Het |
Piezo2 |
G |
A |
18: 63,157,546 (GRCm39) |
T2388I |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,207,435 (GRCm39) |
K308E |
probably benign |
Het |
Rgsl1 |
A |
G |
1: 153,701,236 (GRCm39) |
L441P |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,805,668 (GRCm39) |
|
probably null |
Het |
Scn2a |
T |
A |
2: 65,532,382 (GRCm39) |
S665T |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,911,357 (GRCm39) |
I926V |
probably damaging |
Het |
Snrpg |
T |
C |
6: 86,353,510 (GRCm39) |
I30T |
probably damaging |
Het |
Spryd3 |
A |
T |
15: 102,027,425 (GRCm39) |
|
probably null |
Het |
Svil |
A |
G |
18: 5,114,531 (GRCm39) |
D2036G |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,067,868 (GRCm39) |
I551F |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,489,971 (GRCm39) |
|
probably benign |
Het |
Tmem132b |
T |
C |
5: 125,864,639 (GRCm39) |
F915S |
probably damaging |
Het |
Try5 |
C |
A |
6: 41,288,342 (GRCm39) |
V204L |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,749 (GRCm39) |
T362A |
probably benign |
Het |
|
Other mutations in Grik4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01432:Grik4
|
APN |
9 |
42,432,472 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01929:Grik4
|
APN |
9 |
42,477,594 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02049:Grik4
|
APN |
9 |
42,455,049 (GRCm39) |
splice site |
probably benign |
|
IGL02331:Grik4
|
APN |
9 |
42,453,284 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02817:Grik4
|
APN |
9 |
42,534,235 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02945:Grik4
|
APN |
9 |
42,509,175 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03100:Grik4
|
APN |
9 |
42,461,751 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03168:Grik4
|
APN |
9 |
42,582,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Grik4
|
UTSW |
9 |
42,533,392 (GRCm39) |
nonsense |
probably null |
|
R0894:Grik4
|
UTSW |
9 |
42,599,405 (GRCm39) |
splice site |
probably benign |
|
R1458:Grik4
|
UTSW |
9 |
42,432,418 (GRCm39) |
missense |
probably benign |
0.21 |
R1502:Grik4
|
UTSW |
9 |
42,502,743 (GRCm39) |
missense |
probably benign |
0.03 |
R1502:Grik4
|
UTSW |
9 |
42,432,169 (GRCm39) |
missense |
probably damaging |
0.97 |
R1808:Grik4
|
UTSW |
9 |
42,540,322 (GRCm39) |
missense |
probably benign |
0.19 |
R1945:Grik4
|
UTSW |
9 |
42,432,300 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2180:Grik4
|
UTSW |
9 |
42,453,301 (GRCm39) |
missense |
probably benign |
0.45 |
R2203:Grik4
|
UTSW |
9 |
42,458,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R2336:Grik4
|
UTSW |
9 |
42,477,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Grik4
|
UTSW |
9 |
42,533,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R2890:Grik4
|
UTSW |
9 |
42,582,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R3702:Grik4
|
UTSW |
9 |
42,586,514 (GRCm39) |
missense |
probably damaging |
0.97 |
R3834:Grik4
|
UTSW |
9 |
42,540,419 (GRCm39) |
missense |
probably benign |
0.04 |
R4082:Grik4
|
UTSW |
9 |
42,509,180 (GRCm39) |
missense |
probably benign |
0.00 |
R4604:Grik4
|
UTSW |
9 |
42,435,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Grik4
|
UTSW |
9 |
42,540,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R5417:Grik4
|
UTSW |
9 |
42,582,544 (GRCm39) |
missense |
probably benign |
0.45 |
R5540:Grik4
|
UTSW |
9 |
42,432,243 (GRCm39) |
missense |
probably damaging |
0.99 |
R5680:Grik4
|
UTSW |
9 |
42,540,415 (GRCm39) |
missense |
probably benign |
|
R5740:Grik4
|
UTSW |
9 |
42,719,863 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5876:Grik4
|
UTSW |
9 |
42,599,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R5911:Grik4
|
UTSW |
9 |
42,502,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R6319:Grik4
|
UTSW |
9 |
42,477,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R6475:Grik4
|
UTSW |
9 |
42,540,304 (GRCm39) |
missense |
probably benign |
0.01 |
R6544:Grik4
|
UTSW |
9 |
42,459,024 (GRCm39) |
nonsense |
probably null |
|
R7065:Grik4
|
UTSW |
9 |
42,455,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R7278:Grik4
|
UTSW |
9 |
42,533,356 (GRCm39) |
missense |
probably benign |
0.25 |
R7605:Grik4
|
UTSW |
9 |
42,599,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R7984:Grik4
|
UTSW |
9 |
42,582,557 (GRCm39) |
nonsense |
probably null |
|
R8786:Grik4
|
UTSW |
9 |
42,453,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R9104:Grik4
|
UTSW |
9 |
42,571,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R9443:Grik4
|
UTSW |
9 |
42,571,037 (GRCm39) |
missense |
probably benign |
0.02 |
R9615:Grik4
|
UTSW |
9 |
42,502,765 (GRCm39) |
nonsense |
probably null |
|
X0028:Grik4
|
UTSW |
9 |
42,586,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |