Incidental Mutation 'R8021:Grik1'
| ID |
617397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik1
|
| Ensembl Gene |
ENSMUSG00000022935 |
| Gene Name |
glutamate receptor, ionotropic, kainate 1 |
| Synonyms |
Glur-5, GluK5, A830007B11Rik, Glurbeta1, D16Ium24, D16Ium24e, Glur5 |
| MMRRC Submission |
067460-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87711110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 832
(V832I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000114137]
[ENSMUST00000211444]
[ENSMUST00000227986]
[ENSMUST00000228034]
[ENSMUST00000228188]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: V832I
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: V832I
| 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 benign
Transcript: ENSMUST00000114137
AA Change: V761I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: V761I
| 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 benign
Transcript: ENSMUST00000211444
AA Change: V832I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227986
AA Change: V847I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228034
AA Change: V847I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228188
AA Change: V847I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Meta Mutation Damage Score |
0.1339 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (74/76) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
A |
G |
11: 106,916,753 (GRCm39) |
I12V |
unknown |
Het |
| A630010A05Rik |
C |
T |
16: 14,407,110 (GRCm39) |
T13I |
|
Het |
| Acsm5 |
A |
G |
7: 119,141,616 (GRCm39) |
E537G |
possibly damaging |
Het |
| Adam25 |
C |
A |
8: 41,207,796 (GRCm39) |
A354E |
probably damaging |
Het |
| Adamts3 |
T |
C |
5: 89,831,043 (GRCm39) |
K1004E |
possibly damaging |
Het |
| Ap3d1 |
C |
A |
10: 80,550,135 (GRCm39) |
V699L |
probably benign |
Het |
| Arel1 |
T |
G |
12: 84,981,732 (GRCm39) |
H216P |
possibly damaging |
Het |
| Armc12 |
T |
A |
17: 28,749,879 (GRCm39) |
F8I |
probably benign |
Het |
| Armh3 |
C |
T |
19: 45,945,180 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
A |
10: 50,607,744 (GRCm39) |
M1416K |
probably benign |
Het |
| Catsperb |
A |
C |
12: 101,554,322 (GRCm39) |
N672T |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,209,876 (GRCm39) |
H291R |
probably benign |
Het |
| Cd33 |
A |
G |
7: 43,178,262 (GRCm39) |
V371A |
unknown |
Het |
| Cpt1b |
A |
T |
15: 89,305,629 (GRCm39) |
M362K |
probably benign |
Het |
| Dusp5 |
T |
A |
19: 53,517,929 (GRCm39) |
S61T |
probably benign |
Het |
| Eogt |
T |
G |
6: 97,111,291 (GRCm39) |
D190A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,910,405 (GRCm39) |
I1866F |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,864,511 (GRCm39) |
I1668F |
probably damaging |
Het |
| Foxn3 |
A |
T |
12: 99,355,161 (GRCm39) |
M1K |
probably null |
Het |
| Frs3 |
T |
A |
17: 48,014,039 (GRCm39) |
V244E |
probably damaging |
Het |
| Gtf2ird2 |
T |
A |
5: 134,232,175 (GRCm39) |
V242E |
probably benign |
Het |
| Gtpbp2 |
C |
T |
17: 46,475,195 (GRCm39) |
R97C |
possibly damaging |
Het |
| Habp2 |
T |
A |
19: 56,302,485 (GRCm39) |
V263E |
probably benign |
Het |
| Iars2 |
T |
A |
1: 185,054,654 (GRCm39) |
I337L |
probably benign |
Het |
| Ifi204 |
T |
C |
1: 173,586,919 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,110,463 (GRCm39) |
T543A |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,070,982 (GRCm39) |
S372P |
probably damaging |
Het |
| Kit |
T |
A |
5: 75,776,151 (GRCm39) |
V311E |
possibly damaging |
Het |
| Kmt2c |
C |
G |
5: 25,492,117 (GRCm39) |
V4230L |
possibly damaging |
Het |
| Lao1 |
T |
C |
4: 118,825,674 (GRCm39) |
I498T |
probably damaging |
Het |
| Lrp1 |
G |
T |
10: 127,384,215 (GRCm39) |
D3641E |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,216,760 (GRCm39) |
S477T |
possibly damaging |
Het |
| Mast3 |
C |
T |
8: 71,240,896 (GRCm39) |
G218S |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,358,720 (GRCm39) |
V546A |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,420 (GRCm39) |
V209A |
probably benign |
Het |
| Ndufs4 |
A |
G |
13: 114,444,351 (GRCm39) |
|
probably null |
Het |
| Nek3 |
C |
T |
8: 22,647,206 (GRCm39) |
V139M |
probably damaging |
Het |
| Or10v5 |
T |
C |
19: 11,806,256 (GRCm39) |
I45V |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,260,996 (GRCm39) |
M59K |
probably damaging |
Het |
| Or7e171-ps1 |
A |
C |
9: 19,853,375 (GRCm39) |
Y120* |
probably null |
Het |
| Or8b9 |
T |
A |
9: 37,766,592 (GRCm39) |
H159Q |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,916,766 (GRCm39) |
N901I |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,589,798 (GRCm39) |
Q699H |
unknown |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pde12 |
A |
T |
14: 26,386,854 (GRCm39) |
Y551* |
probably null |
Het |
| Pigg |
A |
G |
5: 108,467,805 (GRCm39) |
D268G |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,856,935 (GRCm39) |
D130G |
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,192 (GRCm39) |
T435A |
possibly damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,596,840 (GRCm39) |
S189G |
probably benign |
Het |
| Rgs14 |
T |
C |
13: 55,531,569 (GRCm39) |
C498R |
probably damaging |
Het |
| Ripply3 |
C |
A |
16: 94,129,369 (GRCm39) |
A5E |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,807,777 (GRCm39) |
D676G |
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,835,898 (GRCm39) |
L312S |
possibly damaging |
Het |
| Secisbp2 |
T |
A |
13: 51,819,664 (GRCm39) |
*415R |
probably null |
Het |
| Sephs1 |
T |
A |
2: 4,911,434 (GRCm39) |
F336Y |
probably benign |
Het |
| Setdb2 |
A |
T |
14: 59,660,833 (GRCm39) |
Y103* |
probably null |
Het |
| Slit2 |
T |
A |
5: 48,459,834 (GRCm39) |
C1371* |
probably null |
Het |
| Spata31e4 |
A |
G |
13: 50,855,130 (GRCm39) |
N256S |
possibly damaging |
Het |
| Stab2 |
C |
T |
10: 86,741,403 (GRCm39) |
A1239T |
possibly damaging |
Het |
| Taf4b |
T |
A |
18: 14,937,581 (GRCm39) |
V218E |
probably damaging |
Het |
| Tars2 |
T |
C |
3: 95,654,826 (GRCm39) |
N393S |
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,103,448 (GRCm39) |
M528T |
probably benign |
Het |
| Tchp |
A |
G |
5: 114,856,478 (GRCm39) |
E363G |
probably damaging |
Het |
| Tec |
T |
A |
5: 72,914,812 (GRCm39) |
N568I |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,577,089 (GRCm39) |
S669P |
unknown |
Het |
| Tnk1 |
A |
G |
11: 69,745,810 (GRCm39) |
S372P |
probably benign |
Het |
| Tnpo2 |
G |
A |
8: 85,781,835 (GRCm39) |
A847T |
probably damaging |
Het |
| Tsc1 |
A |
T |
2: 28,576,901 (GRCm39) |
I1068F |
possibly damaging |
Het |
| Ttc14 |
T |
A |
3: 33,863,270 (GRCm39) |
Y559* |
probably null |
Het |
| Ttc41 |
C |
A |
10: 86,569,578 (GRCm39) |
T652N |
probably benign |
Het |
| Tut1 |
T |
A |
19: 8,932,873 (GRCm39) |
S69T |
probably benign |
Het |
| Uck1 |
T |
C |
2: 32,149,929 (GRCm39) |
S40G |
probably benign |
Het |
| Vmn2r76 |
G |
A |
7: 85,874,958 (GRCm39) |
T673I |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,245 (GRCm39) |
P1760H |
|
Het |
| Zbp1 |
T |
C |
2: 173,051,003 (GRCm39) |
N289S |
possibly damaging |
Het |
| Zc3hav1l |
C |
A |
6: 38,274,882 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,714,242 (GRCm39) |
D244V |
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 |
|
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 |
|
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 |
|
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCAGGGATTCAATGCTC -3'
(R):5'- TCTGGTGATCAACATCCAAATCAC -3'
Sequencing Primer
(F):5'- ACTCAGAAATGACTCTTCTGGGC -3'
(R):5'- ATCACCCCAACTTTCAGGCTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation