Incidental Mutation 'R4194:Grik1'
| ID |
318500 |
| 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 |
041025-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4194 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87743616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 537
(V537A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000114137]
[ENSMUST00000211444]
[ENSMUST00000228034]
[ENSMUST00000227986]
[ENSMUST00000228188]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023652
AA Change: V522A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: V522A
| 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: V522A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: V522A
| 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: V451A
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: V451A
| 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: V522A
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228034
AA Change: V537A
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227986
AA Change: V537A
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228188
AA Change: V537A
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1220 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 85,972,245 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,647,115 (GRCm39) |
V3142F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,654,972 (GRCm39) |
Q3173* |
probably null |
Het |
| Ankrd26 |
A |
G |
6: 118,500,639 (GRCm39) |
F944S |
probably benign |
Het |
| Arhgap11a |
G |
T |
2: 113,672,339 (GRCm39) |
H210N |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,416,113 (GRCm39) |
N674D |
probably benign |
Het |
| Bud13 |
T |
A |
9: 46,209,793 (GRCm39) |
V634E |
probably damaging |
Het |
| Capn13 |
C |
T |
17: 73,646,479 (GRCm39) |
M311I |
possibly damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,305,903 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,720,501 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
C |
G |
9: 105,823,113 (GRCm39) |
E81D |
unknown |
Het |
| Ctbs |
C |
A |
3: 146,156,368 (GRCm39) |
H38N |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,434,045 (GRCm39) |
D897G |
possibly damaging |
Het |
| Cyp2d41-ps |
T |
C |
15: 82,666,154 (GRCm39) |
|
noncoding transcript |
Het |
| Dnttip2 |
G |
A |
3: 122,074,410 (GRCm39) |
E616K |
probably damaging |
Het |
| Epb41l5 |
A |
T |
1: 119,535,823 (GRCm39) |
S348R |
probably damaging |
Het |
| Fam185a |
A |
G |
5: 21,630,452 (GRCm39) |
H96R |
probably benign |
Het |
| Fbxo11 |
T |
C |
17: 88,316,536 (GRCm39) |
D279G |
possibly damaging |
Het |
| Gm3952 |
C |
A |
8: 129,486,346 (GRCm39) |
G1578V |
probably damaging |
Het |
| Grb7 |
T |
A |
11: 98,345,881 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,552,300 (GRCm39) |
N48K |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,041,237 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
T |
C |
1: 163,743,394 (GRCm39) |
S792P |
probably benign |
Het |
| Klhl35 |
A |
T |
7: 99,123,058 (GRCm39) |
|
probably null |
Het |
| Lpxn |
T |
C |
19: 12,810,599 (GRCm39) |
F348L |
probably damaging |
Het |
| Mef2d |
A |
G |
3: 88,065,610 (GRCm39) |
Y114C |
possibly damaging |
Het |
| Mfap3 |
T |
A |
11: 57,420,529 (GRCm39) |
L170H |
probably damaging |
Het |
| Mical1 |
C |
G |
10: 41,357,624 (GRCm39) |
F410L |
possibly damaging |
Het |
| Mppe1 |
G |
A |
18: 67,361,139 (GRCm39) |
S206F |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,812,268 (GRCm39) |
A2013V |
possibly damaging |
Het |
| Phactr3 |
T |
C |
2: 177,924,902 (GRCm39) |
V243A |
possibly damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,524,704 (GRCm39) |
L92P |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,898,005 (GRCm39) |
V226E |
probably damaging |
Het |
| Rap1gds1 |
C |
T |
3: 138,664,851 (GRCm39) |
D236N |
probably damaging |
Het |
| Rnf8 |
T |
C |
17: 29,850,642 (GRCm39) |
|
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,434 (GRCm39) |
|
noncoding transcript |
Het |
| Sfta2 |
T |
C |
17: 35,939,057 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,411 (GRCm39) |
T309S |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,706,013 (GRCm39) |
D1186G |
probably benign |
Het |
| Sptb |
C |
A |
12: 76,659,784 (GRCm39) |
V1039F |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,299,237 (GRCm39) |
V68A |
probably benign |
Het |
| Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,223,136 (GRCm39) |
R253H |
probably damaging |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,449 (GRCm39) |
T203A |
possibly damaging |
Het |
| Vtcn1 |
A |
T |
3: 100,795,525 (GRCm39) |
E164V |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,461,817 (GRCm39) |
T1121A |
unknown |
Het |
| Zfp473 |
T |
C |
7: 44,381,676 (GRCm39) |
I885V |
probably benign |
Het |
| Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACACAACTGACTCCTAGG -3'
(R):5'- ATGTACCTTGCACAGACCCTC -3'
Sequencing Primer
(F):5'- ACTGACTCCTAGGCAAGCGAG -3'
(R):5'- CTTCATAATTTCTGGTTTCTCTTTGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation