Incidental Mutation 'IGL02049:Grik4'
ID |
185052 |
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: 0.066)
|
Stock # |
IGL02049
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 42455049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034515]
[ENSMUST00000114865]
|
AlphaFold |
Q8BMF5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034515
|
SMART Domains |
Protein: ENSMUSP00000034515 Gene: ENSMUSG00000032017
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 |
probably benign
Transcript: ENSMUST00000114865
|
SMART Domains |
Protein: ENSMUSP00000110515 Gene: ENSMUSG00000032017
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
A |
2: 35,254,801 (GRCm39) |
R27S |
probably benign |
Het |
4930596D02Rik |
C |
A |
14: 35,533,535 (GRCm39) |
V78L |
probably benign |
Het |
Abca3 |
T |
A |
17: 24,595,704 (GRCm39) |
C352* |
probably null |
Het |
Acat3 |
T |
A |
17: 13,144,207 (GRCm39) |
Y324F |
probably benign |
Het |
Adamts8 |
T |
C |
9: 30,862,650 (GRCm39) |
V285A |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,484,929 (GRCm39) |
I652T |
probably damaging |
Het |
Arhgef6 |
T |
A |
X: 56,321,271 (GRCm39) |
Q320L |
probably damaging |
Het |
Armh1 |
A |
T |
4: 117,094,860 (GRCm39) |
I60K |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,854,642 (GRCm39) |
V145A |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,580,880 (GRCm39) |
T1674A |
probably benign |
Het |
Capn2 |
A |
T |
1: 182,301,519 (GRCm39) |
|
probably benign |
Het |
Cfd |
A |
G |
10: 79,726,776 (GRCm39) |
Y6C |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,183,113 (GRCm39) |
K157R |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,864,870 (GRCm39) |
R786S |
possibly damaging |
Het |
Dna2 |
A |
T |
10: 62,792,815 (GRCm39) |
I277L |
probably damaging |
Het |
Gm5168 |
A |
T |
X: 25,999,005 (GRCm39) |
D50E |
probably damaging |
Het |
Ift56 |
A |
G |
6: 38,402,067 (GRCm39) |
T520A |
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,811,913 (GRCm39) |
|
probably benign |
Het |
Klk10 |
A |
T |
7: 43,433,882 (GRCm39) |
|
probably benign |
Het |
Kng1 |
A |
G |
16: 22,892,187 (GRCm39) |
Y250C |
probably damaging |
Het |
Las1l |
A |
T |
X: 94,981,059 (GRCm39) |
M690K |
probably benign |
Het |
Mug1 |
T |
A |
6: 121,848,295 (GRCm39) |
M673K |
probably benign |
Het |
Myh9 |
T |
C |
15: 77,654,070 (GRCm39) |
H1245R |
probably benign |
Het |
Oprk1 |
C |
T |
1: 5,669,067 (GRCm39) |
T171I |
probably damaging |
Het |
Pgm5 |
A |
T |
19: 24,801,782 (GRCm39) |
S149T |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,736,847 (GRCm39) |
N424S |
probably benign |
Het |
Plec |
A |
T |
15: 76,063,149 (GRCm39) |
L2334Q |
probably damaging |
Het |
Pus7l |
G |
A |
15: 94,438,059 (GRCm39) |
S262F |
probably damaging |
Het |
Rps24 |
C |
A |
14: 24,541,823 (GRCm39) |
D3E |
probably benign |
Het |
Rxfp1 |
T |
C |
3: 79,557,799 (GRCm39) |
N560D |
probably damaging |
Het |
Sema3c |
C |
T |
5: 17,926,923 (GRCm39) |
|
probably benign |
Het |
Slc47a2 |
A |
G |
11: 61,233,365 (GRCm39) |
F55S |
probably damaging |
Het |
Slco1a6 |
A |
G |
6: 142,047,309 (GRCm39) |
|
probably benign |
Het |
Taf4b |
A |
T |
18: 14,963,196 (GRCm39) |
E645D |
probably benign |
Het |
Tmem161a |
T |
A |
8: 70,631,624 (GRCm39) |
V158E |
probably damaging |
Het |
Trav13-2 |
A |
G |
14: 53,872,604 (GRCm39) |
S27G |
possibly damaging |
Het |
Trav13-2 |
G |
T |
14: 53,872,603 (GRCm39) |
Q26H |
probably damaging |
Het |
Trav13-2 |
A |
T |
14: 53,872,602 (GRCm39) |
Q26L |
possibly damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,691,608 (GRCm39) |
H305L |
probably benign |
Het |
Zfp263 |
A |
G |
16: 3,562,482 (GRCm39) |
I82V |
probably damaging |
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 |
|
IGL02331:Grik4
|
APN |
9 |
42,453,284 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02652:Grik4
|
APN |
9 |
42,586,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
2014-05-07 |