Incidental Mutation 'R8266:Grik1'
| ID |
639654 |
| 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 |
067691-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87744867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 376
(Y376H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000114137]
[ENSMUST00000211444]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: Y447H
| 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: Y447H
| 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: Y376H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: Y376H
| 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: Y447H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0955 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (57/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
A |
2: 30,691,254 (GRCm39) |
N106Y |
possibly damaging |
Het |
| A630073D07Rik |
C |
T |
6: 132,604,380 (GRCm39) |
D22N |
probably null |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
| AW146154 |
G |
A |
7: 41,130,592 (GRCm39) |
R175* |
probably null |
Het |
| Bmp8a |
G |
A |
4: 123,209,626 (GRCm39) |
T354I |
probably benign |
Het |
| C7 |
T |
A |
15: 5,037,141 (GRCm39) |
D579V |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,285,848 (GRCm39) |
N831S |
probably damaging |
Het |
| Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,395,533 (GRCm39) |
K2114E |
probably benign |
Het |
| Cfap20dc |
G |
A |
14: 8,482,599 (GRCm38) |
Q525* |
probably null |
Het |
| Chrnb1 |
T |
C |
11: 69,675,447 (GRCm39) |
*502W |
probably null |
Het |
| Col16a1 |
G |
A |
4: 129,959,224 (GRCm39) |
V657M |
unknown |
Het |
| Crem |
A |
T |
18: 3,309,535 (GRCm39) |
|
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,929,796 (GRCm39) |
V191E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,976,878 (GRCm39) |
I80T |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Exoc6 |
A |
G |
19: 37,565,497 (GRCm39) |
D191G |
probably benign |
Het |
| F5 |
G |
T |
1: 164,012,693 (GRCm39) |
|
probably null |
Het |
| Foxf2 |
AGCCTCCTTACTCG |
AGCCTCCTTACTCGCCTCCTTACTCG |
13: 31,810,361 (GRCm39) |
|
probably benign |
Het |
| Fuca2 |
T |
A |
10: 13,388,633 (GRCm39) |
|
probably benign |
Het |
| Gm13102 |
A |
T |
4: 143,835,682 (GRCm39) |
D450V |
probably damaging |
Het |
| Gm527 |
T |
C |
12: 64,967,719 (GRCm39) |
L47P |
probably damaging |
Het |
| Gm5849 |
T |
C |
3: 90,685,158 (GRCm39) |
E9G |
probably damaging |
Het |
| Hrob |
T |
A |
11: 102,153,046 (GRCm39) |
V569E |
possibly damaging |
Het |
| Isl2 |
A |
G |
9: 55,451,408 (GRCm39) |
Q187R |
probably benign |
Het |
| Kat6b |
C |
T |
14: 21,566,913 (GRCm39) |
|
probably benign |
Het |
| Lpar3 |
C |
T |
3: 145,946,385 (GRCm39) |
T21I |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,050,813 (GRCm39) |
T759A |
possibly damaging |
Het |
| Map7d1 |
G |
A |
4: 126,132,353 (GRCm39) |
S273L |
probably damaging |
Het |
| Mcm3ap |
A |
T |
10: 76,312,414 (GRCm39) |
K498* |
probably null |
Het |
| Med13l |
T |
G |
5: 118,880,174 (GRCm39) |
S1089A |
probably damaging |
Het |
| Mybphl |
T |
C |
3: 108,284,676 (GRCm39) |
Y308H |
probably damaging |
Het |
| Or2o1 |
T |
A |
11: 49,051,352 (GRCm39) |
Y170* |
probably null |
Het |
| Or51ai2 |
T |
C |
7: 103,586,746 (GRCm39) |
V53A |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,391,284 (GRCm39) |
V543E |
probably damaging |
Het |
| Pdilt |
C |
T |
7: 119,088,604 (GRCm39) |
D466N |
probably benign |
Het |
| Pole |
T |
C |
5: 110,442,786 (GRCm39) |
V313A |
probably damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,068,231 (GRCm39) |
R439G |
possibly damaging |
Het |
| Reg1 |
T |
A |
6: 78,404,342 (GRCm39) |
V72E |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,223,085 (GRCm39) |
I983F |
possibly damaging |
Het |
| Rnft2 |
T |
A |
5: 118,375,623 (GRCm39) |
D42V |
possibly damaging |
Het |
| Rps6ka1 |
A |
G |
4: 133,590,995 (GRCm39) |
Y350H |
probably damaging |
Het |
| Sec61a2 |
A |
G |
2: 5,881,650 (GRCm39) |
|
probably null |
Het |
| Septin2 |
T |
C |
1: 93,429,248 (GRCm39) |
V239A |
possibly damaging |
Het |
| Sigirr |
T |
C |
7: 140,671,662 (GRCm39) |
T374A |
unknown |
Het |
| Six4 |
T |
A |
12: 73,155,423 (GRCm39) |
I507F |
possibly damaging |
Het |
| Ska1 |
T |
C |
18: 74,337,412 (GRCm39) |
I45V |
probably benign |
Het |
| Spink2 |
T |
G |
5: 77,359,213 (GRCm39) |
R3S |
unknown |
Het |
| Stox2 |
C |
T |
8: 47,645,060 (GRCm39) |
G800D |
probably damaging |
Het |
| Tmem121b |
T |
C |
6: 120,469,193 (GRCm39) |
E508G |
probably damaging |
Het |
| Tmx4 |
T |
C |
2: 134,481,461 (GRCm39) |
Y154C |
unknown |
Het |
| Usp34 |
T |
A |
11: 23,436,810 (GRCm39) |
|
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,168,937 (GRCm39) |
V731A |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,050,774 (GRCm39) |
M89L |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,338,918 (GRCm39) |
K386N |
probably damaging |
Het |
| Zfp113 |
C |
T |
5: 138,148,881 (GRCm39) |
V88M |
probably damaging |
Het |
| Zfp609 |
G |
T |
9: 65,610,996 (GRCm39) |
R656S |
possibly 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 |
|
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 |
|
|
|
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'- CTTACGTGGTCGATGAGTTCC -3'
(R):5'- GTCGCACCGTTCACTAATCC -3'
Sequencing Primer
(F):5'- ACGTGGTCGATGAGTTCCTTAACC -3'
(R):5'- AAAAACGCGTGATGGCTTTTGTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation