Incidental Mutation 'R9491:Grik1'
| ID |
716957 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87746995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 414
(M414K)
|
| 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: M414K
| 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: M414K
| 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: M343K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: M343K
| 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: M414K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227986
AA Change: M429K
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228034
AA Change: M429K
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228188
AA Change: M429K
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
A |
9: 106,312,994 (GRCm39) |
T142I |
probably damaging |
Het |
| Adcy9 |
T |
C |
16: 4,236,052 (GRCm39) |
E453G |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,838,339 (GRCm39) |
|
probably null |
Het |
| Asmt |
G |
A |
X: 169,108,405 (GRCm39) |
G103D |
possibly damaging |
Het |
| Cap2 |
C |
T |
13: 46,791,366 (GRCm39) |
P290S |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,800,505 (GRCm39) |
|
probably null |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Clstn1 |
T |
C |
4: 149,731,929 (GRCm39) |
S950P |
probably damaging |
Het |
| Cluap1 |
G |
A |
16: 3,758,732 (GRCm39) |
R398Q |
probably benign |
Het |
| Cmbl |
G |
T |
15: 31,582,119 (GRCm39) |
V39L |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,877,369 (GRCm39) |
D536G |
probably benign |
Het |
| Ddx3y |
T |
A |
Y: 1,279,465 (GRCm39) |
D133V |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,156,907 (GRCm39) |
S525T |
probably benign |
Het |
| Eif2s2 |
T |
C |
2: 154,734,630 (GRCm39) |
|
probably benign |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Gadd45a |
A |
T |
6: 67,012,730 (GRCm39) |
D137E |
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,415,602 (GRCm39) |
D120G |
probably damaging |
Het |
| Gpr156 |
A |
T |
16: 37,825,704 (GRCm39) |
R640S |
probably benign |
Het |
| Gtse1 |
C |
T |
15: 85,755,734 (GRCm39) |
P466L |
probably damaging |
Het |
| H6pd |
T |
A |
4: 150,080,366 (GRCm39) |
N160Y |
probably benign |
Het |
| Hectd4 |
T |
G |
5: 121,452,981 (GRCm39) |
L496R |
probably damaging |
Het |
| Hnrnpk |
G |
T |
13: 58,541,050 (GRCm39) |
Q441K |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,854,141 (GRCm39) |
K637E |
unknown |
Het |
| Irgc |
C |
T |
7: 24,132,349 (GRCm39) |
R156H |
probably benign |
Het |
| Kazn |
C |
T |
4: 141,845,436 (GRCm39) |
A383T |
|
Het |
| Lmln |
A |
G |
16: 32,890,358 (GRCm39) |
E169G |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,852 (GRCm39) |
C326* |
probably null |
Het |
| Ncoa1 |
T |
A |
12: 4,340,912 (GRCm39) |
D840V |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,300,875 (GRCm39) |
D81G |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,218,606 (GRCm39) |
T140A |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,278,971 (GRCm39) |
V33A |
possibly damaging |
Het |
| Parp4 |
G |
A |
14: 56,832,828 (GRCm39) |
E384K |
probably damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,895 (GRCm39) |
L430H |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,056 (GRCm39) |
Y861C |
probably damaging |
Het |
| Pheta1 |
G |
A |
5: 121,991,051 (GRCm39) |
A138T |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,772,359 (GRCm39) |
Y337F |
probably benign |
Het |
| Prcc |
A |
G |
3: 87,774,671 (GRCm39) |
V377A |
probably benign |
Het |
| Prrg2 |
T |
A |
7: 44,706,218 (GRCm39) |
Y133F |
probably damaging |
Het |
| Ptchd3 |
T |
C |
11: 121,733,813 (GRCm39) |
V901A |
probably damaging |
Het |
| Rgl1 |
A |
G |
1: 152,424,869 (GRCm39) |
L335P |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,037,835 (GRCm39) |
M1440K |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,667,020 (GRCm39) |
|
probably null |
Het |
| Tbpl2 |
T |
C |
2: 23,986,532 (GRCm39) |
I6V |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,188,689 (GRCm39) |
H516L |
|
Het |
| Tmem8b |
C |
T |
4: 43,673,938 (GRCm39) |
R190C |
probably damaging |
Het |
| Tpmt |
A |
T |
13: 47,180,752 (GRCm39) |
S196T |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,695,472 (GRCm39) |
N478S |
unknown |
Het |
| Vstm5 |
T |
G |
9: 15,168,586 (GRCm39) |
I50S |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,505,616 (GRCm39) |
C285* |
probably null |
Het |
| Zdhhc23 |
A |
C |
16: 43,794,062 (GRCm39) |
V204G |
probably benign |
Het |
| Zfp653 |
T |
A |
9: 21,969,622 (GRCm39) |
K215* |
probably null |
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 |
|
|
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 |
|
|
|
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'- GACATGCAGAAAGCCTTGCC -3'
(R):5'- CAGATTTAAGCTTCTACACGTGC -3'
Sequencing Primer
(F):5'- CCTTGCCAGGCTGGAAAAGAC -3'
(R):5'- GGTATAACTCTCCTCTACCAAGTAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation