Incidental Mutation 'R2157:Grik1'
| ID |
234947 |
| 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 |
040160-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2157 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87853012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 57
(A57V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000114137]
[ENSMUST00000211444]
[ENSMUST00000228034]
[ENSMUST00000228188]
[ENSMUST00000227986]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023652
AA Change: A57V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: A57V
| 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: A57V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: A57V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
| 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: A57V
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: ENSMUST00000228034
AA Change: A57V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228188
AA Change: A57V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227986
AA Change: A57V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6630 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (80/80) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
T |
8: 125,378,168 (GRCm39) |
|
probably benign |
Het |
| 4930590J08Rik |
T |
A |
6: 91,919,468 (GRCm39) |
M709K |
possibly damaging |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,679 (GRCm39) |
|
probably null |
Het |
| A930011G23Rik |
T |
G |
5: 99,379,956 (GRCm39) |
I394L |
probably damaging |
Het |
| Abca13 |
A |
C |
11: 9,527,170 (GRCm39) |
M4528L |
probably damaging |
Het |
| Abcb1b |
G |
A |
5: 8,874,791 (GRCm39) |
A484T |
probably benign |
Het |
| Actn1 |
A |
T |
12: 80,219,891 (GRCm39) |
M660K |
probably benign |
Het |
| Adgra3 |
G |
T |
5: 50,159,283 (GRCm39) |
N322K |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,978,048 (GRCm39) |
I56V |
possibly damaging |
Het |
| Amotl2 |
A |
G |
9: 102,607,788 (GRCm39) |
|
probably benign |
Het |
| Apoa1 |
T |
C |
9: 46,140,471 (GRCm39) |
V34A |
probably damaging |
Het |
| Arrdc1 |
G |
A |
2: 24,816,987 (GRCm39) |
A113V |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,696,231 (GRCm39) |
D13G |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,662,976 (GRCm39) |
Q13R |
possibly damaging |
Het |
| Ccdc28a |
G |
A |
10: 18,106,203 (GRCm39) |
T41I |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,190,921 (GRCm39) |
|
probably benign |
Het |
| Cct2 |
T |
C |
10: 116,898,714 (GRCm39) |
|
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,583,873 (GRCm39) |
I571T |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
| Comp |
C |
T |
8: 70,832,220 (GRCm39) |
Q554* |
probably null |
Het |
| Csf2ra |
T |
C |
19: 61,215,509 (GRCm39) |
T70A |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,559,183 (GRCm39) |
E2256G |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,669,208 (GRCm39) |
V1158D |
probably benign |
Het |
| Dner |
A |
G |
1: 84,361,659 (GRCm39) |
F650S |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,135,462 (GRCm39) |
N437S |
possibly damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,592,076 (GRCm39) |
I176V |
probably benign |
Het |
| Dpy19l2 |
A |
T |
9: 24,495,928 (GRCm39) |
C597S |
probably benign |
Het |
| Edf1 |
T |
C |
2: 25,448,043 (GRCm39) |
|
probably null |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,481 (GRCm39) |
S21T |
unknown |
Het |
| Enpp3 |
A |
G |
10: 24,652,776 (GRCm39) |
F727S |
probably damaging |
Het |
| Epb42 |
C |
T |
2: 120,852,243 (GRCm39) |
M583I |
probably benign |
Het |
| Foxred1 |
A |
G |
9: 35,116,659 (GRCm39) |
F117S |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,372 (GRCm39) |
M811K |
possibly damaging |
Het |
| Gm5117 |
A |
T |
8: 32,228,222 (GRCm39) |
|
noncoding transcript |
Het |
| Gpm6a |
T |
C |
8: 55,511,833 (GRCm39) |
S236P |
probably damaging |
Het |
| Hdgfl2 |
G |
A |
17: 56,405,691 (GRCm39) |
V476I |
possibly damaging |
Het |
| Il17b |
G |
T |
18: 61,823,439 (GRCm39) |
W91L |
probably damaging |
Het |
| Jph4 |
C |
A |
14: 55,350,984 (GRCm39) |
R344L |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,664,005 (GRCm39) |
D522G |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,179,480 (GRCm39) |
L398S |
probably damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,801,214 (GRCm39) |
T132A |
probably benign |
Het |
| Mbtps1 |
G |
T |
8: 120,269,466 (GRCm39) |
T208K |
probably benign |
Het |
| Mr1 |
A |
G |
1: 155,022,376 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
G |
A |
8: 121,828,240 (GRCm39) |
L140F |
probably damaging |
Het |
| Mybpc2 |
C |
G |
7: 44,159,269 (GRCm39) |
D594H |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,647,164 (GRCm39) |
M570V |
probably benign |
Het |
| Ncam2 |
T |
C |
16: 81,287,277 (GRCm39) |
I397T |
probably damaging |
Het |
| Ndufs4 |
C |
T |
13: 114,453,514 (GRCm39) |
V75I |
probably damaging |
Het |
| Nek4 |
T |
A |
14: 30,701,925 (GRCm39) |
|
probably null |
Het |
| Nfatc1 |
G |
T |
18: 80,679,060 (GRCm39) |
A762D |
possibly damaging |
Het |
| Nhsl3 |
C |
T |
4: 129,117,917 (GRCm39) |
R249H |
possibly damaging |
Het |
| Npc1 |
A |
G |
18: 12,324,866 (GRCm39) |
I1209T |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,250 (GRCm39) |
I159T |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,213 (GRCm39) |
N88I |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,942,877 (GRCm39) |
D421G |
probably damaging |
Het |
| Pias1 |
A |
G |
9: 62,820,112 (GRCm39) |
V285A |
possibly damaging |
Het |
| Pigg |
T |
A |
5: 108,466,755 (GRCm39) |
I212N |
probably damaging |
Het |
| Plcd3 |
A |
T |
11: 102,961,974 (GRCm39) |
C711S |
probably benign |
Het |
| Plscr5 |
G |
A |
9: 92,080,550 (GRCm39) |
R12K |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,493,909 (GRCm39) |
I236V |
probably benign |
Het |
| Ppp1r26 |
T |
C |
2: 28,342,370 (GRCm39) |
F667L |
probably benign |
Het |
| Prkx |
A |
G |
X: 76,814,920 (GRCm39) |
F247L |
probably benign |
Het |
| Qpct |
G |
A |
17: 79,378,115 (GRCm39) |
R95Q |
probably benign |
Het |
| Ralgapb |
G |
T |
2: 158,279,392 (GRCm39) |
M159I |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,445,997 (GRCm39) |
L277P |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,366,669 (GRCm39) |
S705P |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,704,254 (GRCm39) |
T750A |
probably damaging |
Het |
| Slc66a1 |
A |
T |
4: 139,029,166 (GRCm39) |
V106D |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,141,230 (GRCm39) |
E6114G |
probably damaging |
Het |
| Tat |
T |
C |
8: 110,724,236 (GRCm39) |
M375T |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,436,522 (GRCm39) |
|
probably benign |
Het |
| Tmprss11e |
T |
C |
5: 86,861,587 (GRCm39) |
K320E |
probably benign |
Het |
| Tnr |
T |
C |
1: 159,685,840 (GRCm39) |
I357T |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,638 (GRCm39) |
R294S |
possibly damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,620,443 (GRCm39) |
D726N |
probably damaging |
Het |
| Vpreb1b |
T |
A |
16: 17,798,934 (GRCm39) |
L140* |
probably null |
Het |
| Wfs1 |
G |
A |
5: 37,125,286 (GRCm39) |
P535L |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,229,532 (GRCm39) |
L307P |
probably damaging |
Het |
| Zfp160 |
A |
G |
17: 21,241,090 (GRCm39) |
S53G |
probably benign |
Het |
| Zfp319 |
A |
G |
8: 96,054,659 (GRCm39) |
C515R |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,974,929 (GRCm39) |
F24L |
possibly damaging |
Het |
| Zzef1 |
A |
T |
11: 72,739,460 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACCAGGAATTCCTATCACCC -3'
(R):5'- ACCTTGGTCATCCCAGTATTTATG -3'
Sequencing Primer
(F):5'- GCACTAAGATGCCCACTTTG -3'
(R):5'- CATCCCAGTATTTATGGTTTGGG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation