Incidental Mutation 'R8515:Grik1'
| ID |
656116 |
| 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 |
067847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8515 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 87720170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 702
(Y702*)
|
| 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 |
probably null
Transcript: ENSMUST00000023652
AA Change: Y702*
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: Y702*
| 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 null
Transcript: ENSMUST00000072256
AA Change: Y702*
|
| SMART Domains |
Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: Y702*
| 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 null
Transcript: ENSMUST00000114137
AA Change: Y631*
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: Y631*
| 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 null
Transcript: ENSMUST00000211444
AA Change: Y702*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227986
AA Change: Y717*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228034
AA Change: Y717*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228188
AA Change: Y717*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
G |
6: 86,902,112 (GRCm39) |
M94V |
possibly damaging |
Het |
| Acss3 |
A |
G |
10: 106,784,524 (GRCm39) |
I566T |
possibly damaging |
Het |
| Adcy3 |
T |
C |
12: 4,262,187 (GRCm39) |
V1080A |
probably damaging |
Het |
| Aldh1b1 |
C |
T |
4: 45,803,818 (GRCm39) |
T452I |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,946,064 (GRCm39) |
S2392T |
possibly damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,320,382 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
A |
6: 122,980,982 (GRCm39) |
Y72N |
probably benign |
Het |
| Clk4 |
G |
A |
11: 51,166,088 (GRCm39) |
R198Q |
probably damaging |
Het |
| Coro2a |
ACCAGAAGAGCCATCCAG |
ACCAG |
4: 46,544,117 (GRCm39) |
|
probably null |
Het |
| Ctbs |
T |
A |
3: 146,164,568 (GRCm39) |
Y240* |
probably null |
Het |
| Cyp2d22 |
T |
C |
15: 82,258,113 (GRCm39) |
D169G |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 117,939,533 (GRCm39) |
V3196I |
probably damaging |
Het |
| Fam110b |
T |
C |
4: 5,799,380 (GRCm39) |
V266A |
probably benign |
Het |
| Fbxo40 |
A |
G |
16: 36,791,015 (GRCm39) |
S32P |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,043 (GRCm39) |
H705L |
probably benign |
Het |
| Hao2 |
A |
T |
3: 98,790,963 (GRCm39) |
N70K |
probably benign |
Het |
| Heatr4 |
A |
G |
12: 84,001,478 (GRCm39) |
I888T |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,151,565 (GRCm39) |
N935K |
probably benign |
Het |
| Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
| Kif3b |
C |
T |
2: 153,158,427 (GRCm39) |
T76M |
probably damaging |
Het |
| Kmo |
A |
T |
1: 175,474,718 (GRCm39) |
H134L |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,544,688 (GRCm39) |
Q344K |
probably null |
Het |
| Man2a2 |
A |
T |
7: 80,018,038 (GRCm39) |
F211I |
possibly damaging |
Het |
| Mmp19 |
T |
C |
10: 128,631,471 (GRCm39) |
I189T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,629 (GRCm39) |
G1710S |
unknown |
Het |
| Myo15b |
G |
A |
11: 115,749,610 (GRCm39) |
G127S |
|
Het |
| Naca |
T |
C |
10: 127,880,112 (GRCm39) |
S1715P |
possibly damaging |
Het |
| Ndufs4 |
T |
C |
13: 114,425,339 (GRCm39) |
N163S |
probably damaging |
Het |
| Nim1k |
G |
A |
13: 120,173,986 (GRCm39) |
R303* |
probably null |
Het |
| Nkx6-3 |
A |
T |
8: 23,643,707 (GRCm39) |
Y36F |
possibly damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,005,136 (GRCm39) |
Q188K |
probably benign |
Het |
| Pak6 |
G |
T |
2: 118,520,478 (GRCm39) |
R156S |
probably benign |
Het |
| Pcf11 |
T |
A |
7: 92,307,998 (GRCm39) |
K723N |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,009,490 (GRCm39) |
Y546C |
possibly damaging |
Het |
| Pik3r6 |
A |
G |
11: 68,430,783 (GRCm39) |
Y528C |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,581,844 (GRCm39) |
N57I |
probably benign |
Het |
| Preb |
A |
G |
5: 31,116,722 (GRCm39) |
L57P |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,482,232 (GRCm39) |
D425G |
probably damaging |
Het |
| Rab35 |
G |
A |
5: 115,781,467 (GRCm39) |
V90I |
probably damaging |
Het |
| Rab3gap2 |
G |
C |
1: 184,995,017 (GRCm39) |
S852T |
probably benign |
Het |
| Rcn1 |
C |
T |
2: 105,219,464 (GRCm39) |
R243Q |
probably null |
Het |
| Rom1 |
A |
G |
19: 8,906,465 (GRCm39) |
S25P |
probably damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,775 (GRCm39) |
Y286* |
probably null |
Het |
| Sis |
T |
A |
3: 72,836,742 (GRCm39) |
I837L |
probably benign |
Het |
| Ski |
T |
C |
4: 155,245,083 (GRCm39) |
S388G |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,867,921 (GRCm39) |
F16S |
probably benign |
Het |
| Slc22a21 |
T |
G |
11: 53,846,904 (GRCm39) |
D323A |
possibly damaging |
Het |
| Slc40a1 |
G |
A |
1: 45,951,467 (GRCm39) |
T230I |
probably damaging |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,124,436 (GRCm39) |
D2858V |
probably benign |
Het |
| Spdl1 |
G |
A |
11: 34,704,252 (GRCm39) |
T527I |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,658,815 (GRCm39) |
L1240Q |
probably benign |
Het |
| Tef |
T |
A |
15: 81,687,037 (GRCm39) |
V18D |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,216,280 (GRCm39) |
D155G |
probably damaging |
Het |
| Vmn1r215 |
A |
G |
13: 23,260,037 (GRCm39) |
I26V |
probably benign |
Het |
| Wac |
A |
G |
18: 7,871,606 (GRCm39) |
M46V |
probably benign |
Het |
| Wbp1 |
C |
T |
6: 83,096,866 (GRCm39) |
G146D |
probably damaging |
Het |
| Zfand2a |
A |
C |
5: 139,459,546 (GRCm39) |
S147A |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,464,534 (GRCm39) |
Y1589F |
probably benign |
Het |
| Zfp345 |
G |
C |
2: 150,314,348 (GRCm39) |
D396E |
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 |
|
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 |
|
|
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'- AGCCTTGGCTCATGTCTTGC -3'
(R):5'- CTGTAAGACTGAAGTCCCAACGTC -3'
Sequencing Primer
(F):5'- ACTCCATAGCCTTTGGAGTCTATGAG -3'
(R):5'- TGAAGTCCCAACGTCATCCCTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation