Incidental Mutation 'IGL03100:Grik4'
ID |
418703 |
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 # |
IGL03100
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42461751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 551
(M551T)
|
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: M551T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034515 Gene: ENSMUSG00000032017 AA Change: M551T
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: M551T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110515 Gene: ENSMUSG00000032017 AA Change: M551T
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,208,527 (GRCm39) |
R233S |
probably benign |
Het |
Abcc9 |
A |
T |
6: 142,640,270 (GRCm39) |
W73R |
probably damaging |
Het |
Ago1 |
A |
G |
4: 126,336,964 (GRCm39) |
V247A |
probably benign |
Het |
Anpep |
T |
A |
7: 79,486,109 (GRCm39) |
T538S |
probably benign |
Het |
Asb14 |
A |
G |
14: 26,625,329 (GRCm39) |
K228R |
probably benign |
Het |
Atp6v0d2 |
C |
T |
4: 19,910,586 (GRCm39) |
|
probably null |
Het |
B3gat2 |
A |
T |
1: 23,802,272 (GRCm39) |
D186V |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,163,164 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,732,175 (GRCm39) |
D224G |
probably damaging |
Het |
Cd6 |
T |
C |
19: 10,770,303 (GRCm39) |
M463V |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,395,626 (GRCm39) |
I188T |
possibly damaging |
Het |
Cldn17 |
G |
T |
16: 88,303,489 (GRCm39) |
A80E |
probably damaging |
Het |
Clptm1l |
A |
G |
13: 73,760,509 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,814,512 (GRCm39) |
V500E |
unknown |
Het |
Ctdspl2 |
C |
T |
2: 121,809,394 (GRCm39) |
T115I |
probably benign |
Het |
Dbh |
G |
T |
2: 27,055,534 (GRCm39) |
A3S |
probably benign |
Het |
Fgd4 |
A |
G |
16: 16,295,383 (GRCm39) |
|
probably benign |
Het |
Gm4952 |
T |
A |
19: 12,602,083 (GRCm39) |
|
probably null |
Het |
Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,253,608 (GRCm39) |
T58A |
probably benign |
Het |
Kcnh2 |
T |
C |
5: 24,527,682 (GRCm39) |
K890R |
probably damaging |
Het |
Kif24 |
T |
C |
4: 41,394,446 (GRCm39) |
H809R |
possibly damaging |
Het |
Knl1 |
A |
G |
2: 118,931,251 (GRCm39) |
E1989G |
probably damaging |
Het |
Muc15 |
A |
G |
2: 110,561,939 (GRCm39) |
D125G |
probably damaging |
Het |
Ogdhl |
A |
T |
14: 32,064,029 (GRCm39) |
M632L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,531,499 (GRCm39) |
I1374T |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,046,243 (GRCm39) |
N670K |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,804,018 (GRCm39) |
H590R |
probably damaging |
Het |
Scara3 |
A |
C |
14: 66,168,722 (GRCm39) |
H298Q |
probably damaging |
Het |
Sirt3 |
T |
C |
7: 140,445,030 (GRCm39) |
D256G |
probably damaging |
Het |
Slc13a2 |
T |
C |
11: 78,295,299 (GRCm39) |
Q158R |
probably damaging |
Het |
Slco5a1 |
T |
A |
1: 12,949,504 (GRCm39) |
T629S |
possibly damaging |
Het |
Speer4f2 |
A |
G |
5: 17,581,528 (GRCm39) |
K157E |
probably damaging |
Het |
Srsf1 |
T |
A |
11: 87,939,954 (GRCm39) |
D155E |
probably damaging |
Het |
Tln2 |
C |
T |
9: 67,203,019 (GRCm39) |
R534H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,591,992 (GRCm39) |
|
probably benign |
Het |
Ube2m |
A |
G |
7: 12,771,562 (GRCm39) |
L32P |
probably benign |
Het |
Wdr24 |
T |
A |
17: 26,044,681 (GRCm39) |
F179I |
possibly damaging |
Het |
Zfp961 |
T |
C |
8: 72,721,754 (GRCm39) |
*69Q |
probably null |
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 |
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 |
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 |
2016-08-02 |