Incidental Mutation 'IGL02200:Grik1'
ID |
284162 |
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 # |
IGL02200
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87737453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 614
(F614L)
|
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: F614L
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000023652 Gene: ENSMUSG00000022935 AA Change: F614L
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: F614L
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000072107 Gene: ENSMUSG00000022935 AA Change: F614L
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 |
probably damaging
Transcript: ENSMUST00000114137
AA Change: F543L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109773 Gene: ENSMUSG00000022935 AA Change: F543L
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 |
probably damaging
Transcript: ENSMUST00000211444
AA Change: F614L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211635
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226447
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227986
AA Change: F629L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228188
AA Change: F629L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228034
AA Change: F629L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,862,663 (GRCm39) |
E207G |
probably benign |
Het |
Ahi1 |
T |
C |
10: 20,857,213 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
A |
T |
6: 118,536,302 (GRCm39) |
V97E |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,385,527 (GRCm39) |
Y736C |
probably damaging |
Het |
Cdon |
T |
C |
9: 35,394,405 (GRCm39) |
W884R |
probably benign |
Het |
Cflar |
A |
G |
1: 58,791,828 (GRCm39) |
D380G |
probably damaging |
Het |
Clca3a1 |
A |
T |
3: 144,457,690 (GRCm39) |
|
probably benign |
Het |
Clca3b |
A |
G |
3: 144,547,190 (GRCm39) |
S316P |
probably damaging |
Het |
Crispld1 |
T |
C |
1: 17,820,557 (GRCm39) |
|
probably benign |
Het |
Diaph1 |
G |
A |
18: 38,023,735 (GRCm39) |
P701L |
unknown |
Het |
Dip2b |
T |
C |
15: 100,049,083 (GRCm39) |
L159P |
possibly damaging |
Het |
Dock1 |
A |
G |
7: 134,346,000 (GRCm39) |
T181A |
probably benign |
Het |
Ear1 |
C |
T |
14: 44,056,709 (GRCm39) |
R53H |
probably benign |
Het |
Gm2663 |
A |
G |
6: 40,972,947 (GRCm39) |
V220A |
probably benign |
Het |
Gpi-ps |
A |
G |
8: 5,689,968 (GRCm39) |
|
noncoding transcript |
Het |
Htr2a |
T |
A |
14: 74,943,605 (GRCm39) |
I395N |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,686,632 (GRCm39) |
D528G |
probably damaging |
Het |
Kdr |
T |
C |
5: 76,110,762 (GRCm39) |
|
probably benign |
Het |
M6pr |
A |
G |
6: 122,292,027 (GRCm39) |
M120V |
probably benign |
Het |
Mettl13 |
G |
A |
1: 162,366,392 (GRCm39) |
|
probably benign |
Het |
Mtfmt |
A |
G |
9: 65,356,063 (GRCm39) |
|
probably benign |
Het |
Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
Ogfrl1 |
C |
T |
1: 23,409,150 (GRCm39) |
V359I |
probably benign |
Het |
Or51f1d |
C |
T |
7: 102,701,000 (GRCm39) |
T165I |
probably benign |
Het |
Ovch2 |
T |
C |
7: 107,394,030 (GRCm39) |
Y141C |
probably damaging |
Het |
Pwwp2a |
A |
C |
11: 43,596,955 (GRCm39) |
I432L |
possibly damaging |
Het |
Ryr3 |
C |
T |
2: 112,679,855 (GRCm39) |
V1245M |
probably damaging |
Het |
Sis |
T |
C |
3: 72,850,937 (GRCm39) |
H587R |
probably damaging |
Het |
Snrnp40 |
A |
G |
4: 130,254,014 (GRCm39) |
K6E |
probably damaging |
Het |
Snx13 |
A |
T |
12: 35,136,884 (GRCm39) |
D115V |
probably damaging |
Het |
Sohlh2 |
C |
A |
3: 55,097,977 (GRCm39) |
T143K |
probably damaging |
Het |
Spag4 |
T |
C |
2: 155,908,517 (GRCm39) |
L55S |
probably benign |
Het |
Trgc2 |
T |
C |
13: 19,491,521 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
T |
C |
7: 86,451,187 (GRCm39) |
S358P |
probably benign |
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 |
IGL02068:Grik1
|
APN |
16 |
87,737,539 (GRCm39) |
missense |
possibly damaging |
0.80 |
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 |
2015-04-16 |