Incidental Mutation 'R6188:Grik1'
ID |
502342 |
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 |
044328-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6188 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87852959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 75
(T75A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000114137]
[ENSMUST00000211444]
[ENSMUST00000227986]
[ENSMUST00000228188]
[ENSMUST00000228034]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023652
AA Change: T75A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000023652 Gene: ENSMUSG00000022935 AA Change: T75A
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: T75A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000072107 Gene: ENSMUSG00000022935 AA Change: T75A
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: T4A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000109773 Gene: ENSMUSG00000022935 AA Change: T4A
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 benign
Transcript: ENSMUST00000211444
AA Change: T75A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211635
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226447
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227986
AA Change: T75A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228188
AA Change: T75A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228034
AA Change: T75A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
Meta Mutation Damage Score |
0.1343 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
98% (61/62) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,331,850 (GRCm39) |
I88F |
possibly damaging |
Het |
4930407I10Rik |
T |
C |
15: 81,943,471 (GRCm39) |
S28P |
probably benign |
Het |
a |
A |
T |
2: 154,889,602 (GRCm39) |
N56I |
probably damaging |
Het |
Apoe |
C |
A |
7: 19,432,305 (GRCm39) |
|
probably benign |
Het |
Aspm |
C |
A |
1: 139,406,977 (GRCm39) |
R1955S |
possibly damaging |
Het |
Boc |
G |
A |
16: 44,319,911 (GRCm39) |
L358F |
possibly damaging |
Het |
Cadm2 |
A |
T |
16: 66,612,195 (GRCm39) |
|
probably null |
Het |
Ccdc183 |
T |
C |
2: 25,499,764 (GRCm39) |
E384G |
probably benign |
Het |
Ccl12 |
A |
G |
11: 81,993,943 (GRCm39) |
T67A |
probably damaging |
Het |
Cep120 |
T |
C |
18: 53,857,529 (GRCm39) |
D312G |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,229,952 (GRCm39) |
V1712A |
possibly damaging |
Het |
Cmya5 |
A |
G |
13: 93,233,784 (GRCm39) |
S435P |
possibly damaging |
Het |
Dmbt1 |
A |
T |
7: 130,699,361 (GRCm39) |
N997Y |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,453,396 (GRCm39) |
I86F |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,150,275 (GRCm39) |
Q168R |
probably benign |
Het |
Epb41l4a |
T |
A |
18: 33,965,718 (GRCm39) |
I370L |
probably benign |
Het |
Erc2 |
T |
A |
14: 28,039,208 (GRCm39) |
D950E |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,832,479 (GRCm39) |
V405A |
probably damaging |
Het |
F13a1 |
T |
C |
13: 37,209,752 (GRCm39) |
D71G |
probably benign |
Het |
Fam151a |
A |
T |
4: 106,602,696 (GRCm39) |
Y205F |
possibly damaging |
Het |
Fcnb |
C |
A |
2: 27,969,202 (GRCm39) |
R165M |
possibly damaging |
Het |
Fndc3a |
C |
T |
14: 72,827,401 (GRCm39) |
V50I |
probably damaging |
Het |
Gm13276 |
C |
T |
4: 88,704,096 (GRCm39) |
Q51* |
probably null |
Het |
Grip2 |
A |
G |
6: 91,740,514 (GRCm39) |
L1015P |
probably damaging |
Het |
Hnrnpk |
A |
G |
13: 58,541,967 (GRCm39) |
F339L |
probably benign |
Het |
Iqgap3 |
A |
G |
3: 88,006,200 (GRCm39) |
D537G |
probably benign |
Het |
Kars1 |
C |
T |
8: 112,735,113 (GRCm39) |
|
probably null |
Het |
Kpna7 |
G |
T |
5: 144,929,654 (GRCm39) |
N390K |
probably damaging |
Het |
Krt36 |
A |
T |
11: 99,993,246 (GRCm39) |
S410T |
probably benign |
Het |
Lingo4 |
A |
G |
3: 94,310,157 (GRCm39) |
E365G |
probably damaging |
Het |
Liph |
T |
C |
16: 21,803,018 (GRCm39) |
D17G |
probably benign |
Het |
Lmbrd1 |
C |
A |
1: 24,750,626 (GRCm39) |
N166K |
probably benign |
Het |
Lypd9 |
T |
C |
11: 58,337,182 (GRCm39) |
E97G |
probably benign |
Het |
Nup155 |
T |
C |
15: 8,139,059 (GRCm39) |
S44P |
probably damaging |
Het |
Or2m12 |
A |
G |
16: 19,105,307 (GRCm39) |
M62T |
probably damaging |
Het |
Or4a72 |
A |
T |
2: 89,405,538 (GRCm39) |
C177* |
probably null |
Het |
Or5a3 |
A |
G |
19: 12,399,974 (GRCm39) |
I100M |
probably benign |
Het |
Pcdhga6 |
T |
C |
18: 37,841,324 (GRCm39) |
V348A |
probably benign |
Het |
Phc3 |
G |
A |
3: 30,991,198 (GRCm39) |
Q295* |
probably null |
Het |
Phyh |
A |
G |
2: 4,932,301 (GRCm39) |
E129G |
probably damaging |
Het |
Polb |
A |
G |
8: 23,137,463 (GRCm39) |
S96P |
probably damaging |
Het |
Ppp1r9a |
A |
T |
6: 5,158,113 (GRCm39) |
K1174* |
probably null |
Het |
Ppp1r9b |
C |
T |
11: 94,882,662 (GRCm39) |
R97W |
probably damaging |
Het |
Pttg1ip |
T |
C |
10: 77,418,342 (GRCm39) |
|
probably null |
Het |
Pygm |
G |
A |
19: 6,447,967 (GRCm39) |
|
probably null |
Het |
Rgs20 |
GGAGAGAG |
GGAGAG |
1: 5,091,106 (GRCm39) |
|
probably null |
Het |
Rlf |
T |
C |
4: 121,027,963 (GRCm39) |
H111R |
probably damaging |
Het |
Rmdn3 |
A |
G |
2: 118,969,831 (GRCm39) |
|
probably null |
Het |
Ror2 |
T |
A |
13: 53,265,347 (GRCm39) |
T570S |
probably damaging |
Het |
Sel1l3 |
A |
C |
5: 53,313,061 (GRCm39) |
I542R |
possibly damaging |
Het |
Serpinb3d |
A |
G |
1: 107,006,237 (GRCm39) |
F284L |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc38a2 |
A |
G |
15: 96,590,397 (GRCm39) |
|
probably null |
Het |
Spata31e2 |
T |
A |
1: 26,724,784 (GRCm39) |
Y132F |
probably damaging |
Het |
Spata31h1 |
A |
G |
10: 82,121,091 (GRCm39) |
I3973T |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,186,087 (GRCm39) |
S1117G |
probably benign |
Het |
Trav15-1-dv6-1 |
C |
T |
14: 53,797,414 (GRCm39) |
A21V |
probably damaging |
Het |
Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
Vmn1r220 |
A |
T |
13: 23,368,084 (GRCm39) |
L204H |
probably damaging |
Het |
Vmn1r3 |
A |
T |
4: 3,185,017 (GRCm39) |
S97T |
probably damaging |
Het |
Zfp599 |
A |
G |
9: 22,161,286 (GRCm39) |
F293S |
probably damaging |
Het |
Zfp983 |
A |
G |
17: 21,877,935 (GRCm39) |
Y46C |
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 |
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'- CAGGAATTCCTATCACCCATTTGC -3'
(R):5'- CCTTGGTCATCCCAGTATTTATGG -3'
Sequencing Primer
(F):5'- GCACTAAGATGCCCACTTTG -3'
(R):5'- GCAGCTTACAGTCTTCTTTTAAAAC -3'
|
Posted On |
2018-02-27 |