Incidental Mutation 'R0096:Grik1'
| ID |
17943 |
| 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 |
038382-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0096 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87831114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 219
(M219V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147948
(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 benign
Transcript: ENSMUST00000023652
AA Change: M219V
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: M219V
| 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 benign
Transcript: ENSMUST00000072256
AA Change: M219V
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: M219V
| 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: M148V
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: M148V
| 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: M219V
PolyPhen 2
Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228034
AA Change: M219V
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228188
AA Change: M219V
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227986
AA Change: M219V
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1886 |
| Coding Region Coverage |
- 1x: 90.0%
- 3x: 87.5%
- 10x: 81.4%
- 20x: 72.0%
|
| Validation Efficiency |
89% (76/85) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
G |
A |
5: 89,849,576 (GRCm39) |
Q615* |
probably null |
Het |
| Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
T |
C |
10: 89,909,924 (GRCm39) |
S48P |
possibly damaging |
Het |
| Aoc1l2 |
A |
C |
6: 48,908,122 (GRCm39) |
Q374P |
probably damaging |
Het |
| Arhgap42 |
G |
T |
9: 9,009,314 (GRCm39) |
N524K |
probably damaging |
Het |
| Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,303,779 (GRCm39) |
V68A |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,092,889 (GRCm39) |
|
probably benign |
Het |
| BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
| Capn3 |
A |
T |
2: 120,333,010 (GRCm39) |
H592L |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,180,952 (GRCm39) |
T256A |
possibly damaging |
Het |
| Cpne8 |
T |
A |
15: 90,384,118 (GRCm39) |
I481L |
probably benign |
Het |
| Dglucy |
A |
T |
12: 100,804,910 (GRCm39) |
I134F |
possibly damaging |
Het |
| Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,000,383 (GRCm39) |
R568S |
possibly damaging |
Het |
| Efr3a |
A |
G |
15: 65,727,290 (GRCm39) |
N613S |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
| Fbrs |
C |
T |
7: 127,088,659 (GRCm39) |
A145V |
probably damaging |
Het |
| Gm9873 |
A |
T |
2: 168,863,029 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1a2 |
A |
T |
9: 3,758,928 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,256,189 (GRCm39) |
R885Q |
probably benign |
Het |
| Kat2a |
A |
T |
11: 100,597,297 (GRCm39) |
V625E |
probably damaging |
Het |
| Kdm4c |
A |
G |
4: 74,275,580 (GRCm39) |
E752G |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,112,408 (GRCm39) |
F2283I |
probably benign |
Het |
| Luc7l3 |
A |
G |
11: 94,192,320 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,131,986 (GRCm39) |
E696G |
probably damaging |
Het |
| Mrps34 |
A |
G |
17: 25,114,643 (GRCm39) |
D110G |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,022,231 (GRCm39) |
K1710M |
possibly damaging |
Het |
| Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 23,054,915 (GRCm39) |
T58P |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,156,816 (GRCm39) |
D214G |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,640 (GRCm39) |
M293K |
probably benign |
Het |
| Pde4dip |
A |
C |
3: 97,674,783 (GRCm39) |
D44E |
probably damaging |
Het |
| Pip4k2a |
G |
A |
2: 18,893,850 (GRCm39) |
|
probably benign |
Het |
| Prmt8 |
T |
A |
6: 127,709,590 (GRCm39) |
|
probably benign |
Het |
| Pygl |
A |
T |
12: 70,237,940 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,786,290 (GRCm39) |
D643G |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,793,970 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,454,965 (GRCm39) |
|
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
| Spata46 |
C |
T |
1: 170,139,603 (GRCm39) |
Q201* |
probably null |
Het |
| Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
| Sycp2 |
G |
T |
2: 178,045,528 (GRCm39) |
Q31K |
probably damaging |
Het |
| Taf6l |
A |
G |
19: 8,755,881 (GRCm39) |
F256L |
probably benign |
Het |
| Tektl1 |
T |
A |
10: 78,584,539 (GRCm39) |
I328L |
probably benign |
Het |
| Trf |
A |
G |
9: 103,099,358 (GRCm39) |
F300L |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,447,741 (GRCm39) |
F361S |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,686,527 (GRCm39) |
Y636C |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,231,005 (GRCm39) |
N68D |
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 |
|
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 |
2013-03-25 |
Incidental Mutation