Incidental Mutation 'IGL02331:Grik4'
ID |
288693 |
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 # |
IGL02331
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 42453284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 700
(S700R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034515]
[ENSMUST00000114865]
|
AlphaFold |
Q8BMF5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034515
AA Change: S700R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034515 Gene: ENSMUSG00000032017 AA Change: S700R
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 damaging
Transcript: ENSMUST00000114865
AA Change: S700R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110515 Gene: ENSMUSG00000032017 AA Change: S700R
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
T |
G |
11: 105,862,170 (GRCm39) |
F241L |
possibly damaging |
Het |
Alx1 |
A |
G |
10: 102,858,160 (GRCm39) |
F180L |
possibly damaging |
Het |
Apaf1 |
T |
C |
10: 90,895,481 (GRCm39) |
D428G |
probably damaging |
Het |
Arap2 |
G |
T |
5: 62,807,025 (GRCm39) |
|
probably benign |
Het |
Arnt2 |
A |
G |
7: 83,914,832 (GRCm39) |
Y511H |
probably damaging |
Het |
Bmp7 |
A |
T |
2: 172,714,724 (GRCm39) |
C362S |
probably damaging |
Het |
Bpifb9a |
A |
G |
2: 154,104,307 (GRCm39) |
D250G |
possibly damaging |
Het |
Ccnk |
T |
A |
12: 108,155,343 (GRCm39) |
L100H |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,301,322 (GRCm39) |
I451V |
probably damaging |
Het |
Cemip |
A |
G |
7: 83,613,192 (GRCm39) |
|
probably null |
Het |
Cep78 |
T |
A |
19: 15,951,779 (GRCm39) |
Q342L |
probably benign |
Het |
Clca3b |
T |
C |
3: 144,547,167 (GRCm39) |
|
probably benign |
Het |
Cpb2 |
A |
G |
14: 75,520,844 (GRCm39) |
R420G |
possibly damaging |
Het |
Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
Dbnl |
T |
C |
11: 5,749,997 (GRCm39) |
*433R |
probably null |
Het |
Elovl5 |
T |
C |
9: 77,887,181 (GRCm39) |
S191P |
possibly damaging |
Het |
Fbxo42 |
A |
G |
4: 140,895,157 (GRCm39) |
E40G |
probably benign |
Het |
Fpgt |
T |
C |
3: 154,793,499 (GRCm39) |
D176G |
possibly damaging |
Het |
Gm1110 |
C |
A |
9: 26,824,583 (GRCm39) |
|
probably null |
Het |
Herc4 |
T |
C |
10: 63,099,939 (GRCm39) |
S121P |
probably benign |
Het |
Hps4 |
T |
C |
5: 112,517,402 (GRCm39) |
V263A |
probably benign |
Het |
Hsd11b1 |
A |
C |
1: 192,922,924 (GRCm39) |
L81R |
probably damaging |
Het |
Ift122 |
T |
C |
6: 115,864,285 (GRCm39) |
M310T |
probably damaging |
Het |
Isg20l2 |
G |
T |
3: 87,839,394 (GRCm39) |
V202L |
probably damaging |
Het |
Klf3 |
A |
G |
5: 64,986,415 (GRCm39) |
K111E |
probably damaging |
Het |
Kxd1 |
T |
C |
8: 70,968,090 (GRCm39) |
T128A |
probably benign |
Het |
Lgals7 |
A |
G |
7: 28,565,143 (GRCm39) |
T94A |
probably benign |
Het |
Lrp5 |
T |
C |
19: 3,641,816 (GRCm39) |
H1382R |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,226,726 (GRCm39) |
T1434A |
possibly damaging |
Het |
Mybl2 |
C |
T |
2: 162,916,605 (GRCm39) |
R419W |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,771,111 (GRCm39) |
|
probably null |
Het |
Myo7a |
A |
G |
7: 97,702,389 (GRCm39) |
V2138A |
possibly damaging |
Het |
Naip1 |
T |
A |
13: 100,563,304 (GRCm39) |
K620N |
probably benign |
Het |
Ntrk2 |
T |
C |
13: 58,994,670 (GRCm39) |
|
probably null |
Het |
Or8g21 |
A |
G |
9: 38,906,402 (GRCm39) |
S110P |
probably damaging |
Het |
Osbpl5 |
A |
G |
7: 143,263,532 (GRCm39) |
V105A |
probably benign |
Het |
Pfkp |
A |
C |
13: 6,647,996 (GRCm39) |
F527V |
probably benign |
Het |
Pilra |
C |
A |
5: 137,833,917 (GRCm39) |
G47* |
probably null |
Het |
Pkdrej |
C |
A |
15: 85,705,528 (GRCm39) |
C136F |
probably damaging |
Het |
Ppp1r16a |
T |
A |
15: 76,575,200 (GRCm39) |
M36K |
probably benign |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Rnf40 |
T |
C |
7: 127,188,999 (GRCm39) |
V124A |
probably benign |
Het |
St7l |
A |
G |
3: 104,833,904 (GRCm39) |
T522A |
probably damaging |
Het |
Stox2 |
G |
A |
8: 47,644,979 (GRCm39) |
P891L |
probably damaging |
Het |
Trbv12-1 |
T |
C |
6: 41,090,972 (GRCm39) |
S115P |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,884,800 (GRCm39) |
D827G |
probably benign |
Het |
Ttll6 |
T |
A |
11: 96,026,573 (GRCm39) |
M119K |
probably damaging |
Het |
Ufl1 |
C |
A |
4: 25,251,971 (GRCm39) |
C568F |
probably damaging |
Het |
Usp29 |
A |
T |
7: 6,965,155 (GRCm39) |
I333F |
probably benign |
Het |
Vta1 |
G |
A |
10: 14,581,138 (GRCm39) |
T23M |
probably damaging |
Het |
Zswim8 |
A |
G |
14: 20,773,325 (GRCm39) |
D1771G |
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 |
|
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 |
2015-04-16 |