Incidental Mutation 'IGL02817:Grik4'
ID |
360851 |
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 # |
IGL02817
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42534235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 349
(N349S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034515]
[ENSMUST00000114865]
|
AlphaFold |
Q8BMF5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034515
AA Change: N349S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000034515 Gene: ENSMUSG00000032017 AA Change: N349S
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
AA Change: N349S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110515 Gene: ENSMUSG00000032017 AA Change: N349S
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 |
AI182371 |
A |
G |
2: 34,990,661 (GRCm39) |
V12A |
probably damaging |
Het |
Ash1l |
C |
A |
3: 88,892,108 (GRCm39) |
P1329H |
probably damaging |
Het |
Bpifb3 |
T |
C |
2: 153,761,566 (GRCm39) |
V5A |
unknown |
Het |
Cep350 |
A |
G |
1: 155,804,588 (GRCm39) |
S832P |
probably damaging |
Het |
Chd1 |
A |
T |
17: 15,969,762 (GRCm39) |
H947L |
possibly damaging |
Het |
Clec4b1 |
A |
T |
6: 123,045,444 (GRCm39) |
H88L |
possibly damaging |
Het |
Col4a1 |
A |
G |
8: 11,270,259 (GRCm39) |
L859P |
probably damaging |
Het |
Cyp2f2 |
T |
A |
7: 26,828,740 (GRCm39) |
N203K |
probably damaging |
Het |
Dgka |
G |
A |
10: 128,566,097 (GRCm39) |
T351I |
probably benign |
Het |
Dmc1 |
G |
A |
15: 79,472,964 (GRCm39) |
T161I |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,887,269 (GRCm39) |
N688D |
probably benign |
Het |
Dpy19l3 |
A |
G |
7: 35,392,233 (GRCm39) |
L653P |
probably damaging |
Het |
Drc3 |
A |
G |
11: 60,275,062 (GRCm39) |
E341G |
probably benign |
Het |
Fcrl5 |
T |
G |
3: 87,343,220 (GRCm39) |
V10G |
probably benign |
Het |
Fgfr4 |
T |
C |
13: 55,304,481 (GRCm39) |
|
probably null |
Het |
Gli2 |
T |
C |
1: 118,764,101 (GRCm39) |
H1350R |
possibly damaging |
Het |
Gm3248 |
A |
G |
14: 5,945,825 (GRCm38) |
S30P |
probably benign |
Het |
Ifnar2 |
G |
T |
16: 91,184,880 (GRCm39) |
K90N |
probably benign |
Het |
Kcp |
A |
T |
6: 29,496,968 (GRCm39) |
I547N |
probably damaging |
Het |
L3mbtl4 |
A |
T |
17: 68,937,249 (GRCm39) |
E423D |
probably benign |
Het |
Mapkap1 |
T |
C |
2: 34,453,130 (GRCm39) |
L341P |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 118,000,251 (GRCm39) |
Q618R |
possibly damaging |
Het |
Medag |
A |
T |
5: 149,350,503 (GRCm39) |
R51* |
probably null |
Het |
Myo1f |
G |
A |
17: 33,823,532 (GRCm39) |
R1020K |
probably benign |
Het |
Myrf |
T |
C |
19: 10,202,816 (GRCm39) |
N153D |
probably benign |
Het |
Naf1 |
T |
C |
8: 67,336,177 (GRCm39) |
I368T |
probably damaging |
Het |
Nalf1 |
A |
T |
8: 9,257,994 (GRCm39) |
C385S |
probably damaging |
Het |
Ncapd2 |
A |
G |
6: 125,147,877 (GRCm39) |
|
probably null |
Het |
Nsfl1c |
T |
A |
2: 151,342,651 (GRCm39) |
S74T |
probably damaging |
Het |
Or2a51 |
A |
T |
6: 43,178,993 (GRCm39) |
R138S |
probably benign |
Het |
Or6c68 |
A |
G |
10: 129,157,764 (GRCm39) |
T91A |
probably benign |
Het |
Or8h7 |
T |
C |
2: 86,720,937 (GRCm39) |
N194S |
probably benign |
Het |
Ptgfrn |
T |
A |
3: 100,968,068 (GRCm39) |
E508D |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,674,968 (GRCm39) |
|
probably null |
Het |
Snx27 |
A |
G |
3: 94,410,770 (GRCm39) |
L460P |
probably damaging |
Het |
Sp4 |
G |
T |
12: 118,263,287 (GRCm39) |
T253K |
probably damaging |
Het |
Trio |
T |
C |
15: 27,902,967 (GRCm39) |
I165V |
probably benign |
Het |
Txnl4b |
A |
G |
8: 110,299,478 (GRCm39) |
Y146C |
probably damaging |
Het |
Vmn1r42 |
A |
G |
6: 89,822,518 (GRCm39) |
M17T |
probably damaging |
Het |
Zer1 |
T |
C |
2: 29,993,406 (GRCm39) |
I567V |
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 |
|
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 |
IGL02652:Grik4
|
APN |
9 |
42,586,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
2015-12-18 |