Incidental Mutation 'IGL02068:Grik1'
ID |
185725 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Grik1
|
Ensembl Gene |
ENSMUSG00000022935 |
Gene Name |
glutamate receptor, ionotropic, kainate 1 |
Synonyms |
Glur-5, GluK5, A830007B11Rik, Glurbeta1, D16Ium24, D16Ium24e, Glur5 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02068
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 87737539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 585
(T585K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000114137]
[ENSMUST00000211444]
[ENSMUST00000227986]
[ENSMUST00000228188]
[ENSMUST00000228034]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023652
AA Change: T585K
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000023652 Gene: ENSMUSG00000022935 AA Change: T585K
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
14 |
357 |
4.7e-69 |
PFAM |
Pfam:Peripla_BP_6
|
48 |
347 |
5.1e-11 |
PFAM |
PBPe
|
394 |
762 |
2.4e-130 |
SMART |
Lig_chan-Glu_bd
|
404 |
468 |
6.34e-31 |
SMART |
Blast:PBPe
|
770 |
815 |
2e-16 |
BLAST |
low complexity region
|
829 |
850 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072256
AA Change: T585K
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000072107 Gene: ENSMUSG00000022935 AA Change: T585K
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
14 |
357 |
2.6e-72 |
PFAM |
Pfam:Peripla_BP_6
|
49 |
347 |
3.4e-10 |
PFAM |
PBPe
|
394 |
762 |
2.4e-130 |
SMART |
Lig_chan-Glu_bd
|
404 |
468 |
6.34e-31 |
SMART |
Blast:PBPe
|
770 |
817 |
1e-17 |
BLAST |
low complexity region
|
858 |
879 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114137
AA Change: T514K
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109773 Gene: ENSMUSG00000022935 AA Change: T514K
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
325 |
5.4e-63 |
PFAM |
Pfam:Peripla_BP_6
|
18 |
315 |
5.1e-11 |
PFAM |
PBPe
|
362 |
730 |
2.4e-130 |
SMART |
Lig_chan-Glu_bd
|
372 |
436 |
6.34e-31 |
SMART |
Blast:PBPe
|
738 |
783 |
2e-16 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210910
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211444
AA Change: T585K
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211635
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227986
AA Change: T600K
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228188
AA Change: T600K
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228034
AA Change: T600K
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226447
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display subtile abnormalities in the electrophysiology of neurons in the brain. Response to chemical pain stimuli is also reduced. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
T |
A |
14: 68,814,558 (GRCm39) |
I140F |
probably benign |
Het |
Cfap58 |
T |
C |
19: 47,974,951 (GRCm39) |
L704P |
probably damaging |
Het |
Cnnm2 |
T |
C |
19: 46,865,827 (GRCm39) |
V805A |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,951,871 (GRCm39) |
E1876G |
probably damaging |
Het |
Dock1 |
A |
T |
7: 134,373,277 (GRCm39) |
E548V |
probably benign |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
Esm1 |
T |
G |
13: 113,346,630 (GRCm39) |
F85C |
probably damaging |
Het |
Fcer1a |
C |
T |
1: 173,053,071 (GRCm39) |
G42R |
probably damaging |
Het |
Fcer1g |
A |
T |
1: 171,058,760 (GRCm39) |
Y43N |
probably damaging |
Het |
Hnf4g |
T |
C |
3: 3,709,636 (GRCm39) |
I184T |
probably benign |
Het |
Hsd11b1 |
G |
A |
1: 192,904,354 (GRCm39) |
R282* |
probably null |
Het |
Lig1 |
T |
A |
7: 13,026,377 (GRCm39) |
|
probably benign |
Het |
Or13l2 |
T |
C |
3: 97,318,222 (GRCm39) |
K92E |
possibly damaging |
Het |
Phip |
A |
G |
9: 82,827,861 (GRCm39) |
S184P |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,592,971 (GRCm39) |
G1714D |
probably damaging |
Het |
Plppr4 |
A |
G |
3: 117,125,433 (GRCm39) |
|
probably benign |
Het |
Prdm10 |
G |
A |
9: 31,248,646 (GRCm39) |
R356Q |
probably damaging |
Het |
Rasgrp1 |
C |
T |
2: 117,131,059 (GRCm39) |
|
probably benign |
Het |
Rpap1 |
C |
T |
2: 119,613,135 (GRCm39) |
E138K |
probably benign |
Het |
Sidt2 |
A |
C |
9: 45,856,962 (GRCm39) |
|
probably null |
Het |
Slc28a3 |
A |
G |
13: 58,706,411 (GRCm39) |
L610P |
probably damaging |
Het |
Slc39a10 |
T |
C |
1: 46,858,599 (GRCm39) |
|
probably benign |
Het |
Snx18 |
G |
A |
13: 113,753,601 (GRCm39) |
A444V |
probably damaging |
Het |
Svil |
A |
G |
18: 5,092,899 (GRCm39) |
E1459G |
probably damaging |
Het |
Tbc1d9 |
T |
C |
8: 83,966,497 (GRCm39) |
L366P |
probably damaging |
Het |
Tbk1 |
A |
T |
10: 121,406,694 (GRCm39) |
H181Q |
probably damaging |
Het |
Wrn |
C |
A |
8: 33,800,777 (GRCm39) |
G612V |
probably benign |
Het |
Xdh |
A |
G |
17: 74,220,945 (GRCm39) |
Y595H |
probably damaging |
Het |
|
Other mutations in Grik1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01143:Grik1
|
APN |
16 |
87,754,488 (GRCm39) |
splice site |
probably null |
|
IGL01347:Grik1
|
APN |
16 |
87,754,481 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01612:Grik1
|
APN |
16 |
87,743,623 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02010:Grik1
|
APN |
16 |
87,848,396 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02059:Grik1
|
APN |
16 |
87,852,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02200:Grik1
|
APN |
16 |
87,737,453 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02206:Grik1
|
APN |
16 |
87,732,808 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02375:Grik1
|
APN |
16 |
87,743,444 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02598:Grik1
|
APN |
16 |
87,744,872 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02686:Grik1
|
APN |
16 |
87,806,649 (GRCm39) |
splice site |
probably null |
|
IGL02890:Grik1
|
APN |
16 |
87,693,690 (GRCm39) |
intron |
probably benign |
|
R0096:Grik1
|
UTSW |
16 |
87,831,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0096:Grik1
|
UTSW |
16 |
87,831,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0387:Grik1
|
UTSW |
16 |
87,831,238 (GRCm39) |
splice site |
probably benign |
|
R0613:Grik1
|
UTSW |
16 |
87,848,221 (GRCm39) |
critical splice donor site |
probably null |
|
R1087:Grik1
|
UTSW |
16 |
87,803,265 (GRCm39) |
missense |
probably benign |
0.00 |
R1694:Grik1
|
UTSW |
16 |
87,746,956 (GRCm39) |
missense |
probably damaging |
0.96 |
R1905:Grik1
|
UTSW |
16 |
87,693,754 (GRCm39) |
nonsense |
probably null |
|
R1928:Grik1
|
UTSW |
16 |
87,848,241 (GRCm39) |
missense |
probably damaging |
0.99 |
R2157:Grik1
|
UTSW |
16 |
87,853,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R3122:Grik1
|
UTSW |
16 |
87,803,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R3906:Grik1
|
UTSW |
16 |
87,803,337 (GRCm39) |
missense |
probably benign |
0.00 |
R4194:Grik1
|
UTSW |
16 |
87,743,616 (GRCm39) |
missense |
probably benign |
0.45 |
R4343:Grik1
|
UTSW |
16 |
87,693,140 (GRCm39) |
missense |
probably benign |
0.00 |
R4349:Grik1
|
UTSW |
16 |
87,754,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R4416:Grik1
|
UTSW |
16 |
87,848,349 (GRCm39) |
missense |
probably benign |
0.00 |
R4423:Grik1
|
UTSW |
16 |
87,720,088 (GRCm39) |
missense |
probably benign |
0.10 |
R4660:Grik1
|
UTSW |
16 |
87,720,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R4804:Grik1
|
UTSW |
16 |
87,754,457 (GRCm39) |
missense |
probably damaging |
0.99 |
R5052:Grik1
|
UTSW |
16 |
87,746,986 (GRCm39) |
missense |
probably benign |
0.01 |
R5126:Grik1
|
UTSW |
16 |
87,744,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R5334:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
R5335:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
R5337:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
R5479:Grik1
|
UTSW |
16 |
87,732,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R6141:Grik1
|
UTSW |
16 |
87,693,760 (GRCm39) |
missense |
probably benign |
0.00 |
R6188:Grik1
|
UTSW |
16 |
87,852,959 (GRCm39) |
missense |
probably benign |
0.06 |
R6335:Grik1
|
UTSW |
16 |
87,744,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R6610:Grik1
|
UTSW |
16 |
87,831,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R6737:Grik1
|
UTSW |
16 |
87,848,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Grik1
|
UTSW |
16 |
87,709,708 (GRCm39) |
missense |
probably benign |
0.06 |
R7876:Grik1
|
UTSW |
16 |
87,720,121 (GRCm39) |
missense |
|
|
R8021:Grik1
|
UTSW |
16 |
87,711,110 (GRCm39) |
missense |
|
|
R8027:Grik1
|
UTSW |
16 |
87,732,893 (GRCm39) |
missense |
|
|
R8096:Grik1
|
UTSW |
16 |
87,803,355 (GRCm39) |
missense |
|
|
R8266:Grik1
|
UTSW |
16 |
87,744,867 (GRCm39) |
missense |
probably benign |
|
R8515:Grik1
|
UTSW |
16 |
87,720,170 (GRCm39) |
nonsense |
probably null |
|
R8922:Grik1
|
UTSW |
16 |
87,693,167 (GRCm39) |
missense |
unknown |
|
R9097:Grik1
|
UTSW |
16 |
87,732,796 (GRCm39) |
missense |
|
|
R9125:Grik1
|
UTSW |
16 |
87,852,956 (GRCm39) |
missense |
|
|
R9273:Grik1
|
UTSW |
16 |
87,848,379 (GRCm39) |
missense |
|
|
R9286:Grik1
|
UTSW |
16 |
87,848,315 (GRCm39) |
missense |
|
|
R9491:Grik1
|
UTSW |
16 |
87,746,995 (GRCm39) |
missense |
|
|
RF016:Grik1
|
UTSW |
16 |
87,831,074 (GRCm39) |
missense |
|
|
RF022:Grik1
|
UTSW |
16 |
87,693,225 (GRCm39) |
missense |
|
|
X0018:Grik1
|
UTSW |
16 |
87,743,484 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Grik1
|
UTSW |
16 |
87,743,572 (GRCm39) |
missense |
|
|
|
Posted On |
2014-05-07 |