Incidental Mutation 'IGL02598:Grik1'
| ID |
299945 |
| 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 # |
IGL02598
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87744872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 460
(V460E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000114137]
[ENSMUST00000211444]
[ENSMUST00000228188]
[ENSMUST00000227986]
[ENSMUST00000228034]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023652
AA Change: V445E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: V445E
| 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 |
probably damaging
Transcript: ENSMUST00000072256
AA Change: V445E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: V445E
| 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: V374E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: V374E
| 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 |
probably damaging
Transcript: ENSMUST00000211444
AA Change: V445E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226447
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228188
AA Change: V460E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227986
AA Change: V460E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228034
AA Change: V460E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
T |
11: 50,834,448 (GRCm39) |
M1K |
probably null |
Het |
| Abca13 |
C |
T |
11: 9,381,898 (GRCm39) |
T3850I |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,905,781 (GRCm39) |
L95* |
probably null |
Het |
| Acacb |
A |
G |
5: 114,384,098 (GRCm39) |
Y2209C |
probably damaging |
Het |
| Acadm |
A |
G |
3: 153,644,181 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,269,417 (GRCm39) |
V1177M |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,840,099 (GRCm39) |
|
probably null |
Het |
| Catsperd |
A |
G |
17: 56,954,815 (GRCm39) |
|
probably null |
Het |
| Cd28 |
A |
G |
1: 60,802,498 (GRCm39) |
|
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,682,002 (GRCm39) |
Y1934H |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,738,713 (GRCm39) |
I2377V |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,533,086 (GRCm39) |
K1581E |
probably damaging |
Het |
| Dab2 |
A |
T |
15: 6,458,847 (GRCm39) |
N232I |
probably damaging |
Het |
| Dyrk4 |
G |
A |
6: 126,860,982 (GRCm39) |
|
probably benign |
Het |
| Efcab14 |
T |
A |
4: 115,597,631 (GRCm39) |
C75* |
probably null |
Het |
| Elovl1 |
T |
C |
4: 118,288,616 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
T |
G |
7: 140,934,849 (GRCm39) |
|
probably benign |
Het |
| Gtf2f2 |
A |
G |
14: 76,245,182 (GRCm39) |
S35P |
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,762,568 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
T |
C |
1: 173,472,281 (GRCm39) |
V374A |
probably damaging |
Het |
| Kics2 |
G |
A |
10: 121,575,876 (GRCm39) |
|
probably benign |
Het |
| Lars1 |
A |
G |
18: 42,360,342 (GRCm39) |
S705P |
possibly damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,020,871 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
C |
9: 123,345,933 (GRCm39) |
S571P |
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,236 (GRCm39) |
Y312N |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,296,622 (GRCm39) |
D125E |
possibly damaging |
Het |
| Lmtk3 |
T |
C |
7: 45,442,564 (GRCm39) |
S416P |
probably damaging |
Het |
| Map7d3 |
T |
C |
X: 55,855,146 (GRCm39) |
T446A |
probably benign |
Het |
| Masp1 |
T |
A |
16: 23,278,381 (GRCm39) |
M523L |
probably benign |
Het |
| Mroh4 |
C |
A |
15: 74,483,092 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
G |
A |
14: 60,537,953 (GRCm39) |
A651T |
probably damaging |
Het |
| Myocd |
A |
G |
11: 65,074,296 (GRCm39) |
S738P |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,923 (GRCm39) |
N296I |
possibly damaging |
Het |
| Or4d5 |
A |
T |
9: 40,011,861 (GRCm39) |
F308L |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,830,163 (GRCm39) |
V134A |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,595 (GRCm39) |
I229F |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,142 (GRCm39) |
I256N |
possibly damaging |
Het |
| Parg |
G |
T |
14: 31,936,281 (GRCm39) |
V479L |
probably damaging |
Het |
| Pcdhb10 |
C |
A |
18: 37,546,834 (GRCm39) |
H637N |
possibly damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,059,900 (GRCm39) |
T1118I |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,501,355 (GRCm39) |
E400G |
probably damaging |
Het |
| Prss54 |
C |
A |
8: 96,292,337 (GRCm39) |
V81F |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,464,420 (GRCm39) |
L1369P |
probably benign |
Het |
| Rfx8 |
A |
T |
1: 39,735,128 (GRCm39) |
|
probably benign |
Het |
| Rgs6 |
C |
T |
12: 83,138,571 (GRCm39) |
P302S |
probably benign |
Het |
| Rnf148 |
A |
C |
6: 23,654,456 (GRCm39) |
I180S |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,408,061 (GRCm39) |
D350G |
probably benign |
Het |
| Slc33a1 |
C |
T |
3: 63,850,753 (GRCm39) |
G524S |
probably benign |
Het |
| Slc5a7 |
A |
G |
17: 54,591,221 (GRCm39) |
V237A |
probably benign |
Het |
| Spink7 |
T |
C |
18: 62,727,356 (GRCm39) |
D56G |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,303,063 (GRCm39) |
S31P |
probably damaging |
Het |
| Tesl1 |
A |
T |
X: 23,773,710 (GRCm39) |
T404S |
probably benign |
Het |
| Thrb |
C |
A |
14: 18,008,606 (GRCm38) |
P110Q |
possibly damaging |
Het |
| Vmn2r76 |
G |
T |
7: 85,877,879 (GRCm39) |
T506K |
probably benign |
Het |
| Vps45 |
A |
G |
3: 95,938,354 (GRCm39) |
L486P |
probably benign |
Het |
| Zan |
G |
A |
5: 137,444,473 (GRCm39) |
T1823M |
unknown |
Het |
| Zdhhc6 |
T |
A |
19: 55,302,959 (GRCm39) |
Q14L |
probably benign |
Het |
| Zfp990 |
A |
T |
4: 145,263,533 (GRCm39) |
N177I |
possibly 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 |
|
IGL02068:Grik1
|
APN |
16 |
87,737,539 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
|
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 |
Incidental Mutation