Incidental Mutation 'R4804:Grik1'
| ID |
370584 |
| 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 |
041998-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4804 (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 87754457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 376
(I376T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147948
(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 damaging
Transcript: ENSMUST00000023652
AA Change: I376T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: I376T
| 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 damaging
Transcript: ENSMUST00000072256
AA Change: I376T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: I376T
| 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 damaging
Transcript: ENSMUST00000114137
AA Change: I305T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: I305T
| 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 damaging
Transcript: ENSMUST00000211444
AA Change: I376T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226447
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227986
AA Change: I376T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228034
AA Change: I376T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228188
AA Change: I376T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.7698 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
99% (78/79) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
T |
C |
1: 178,103,675 (GRCm39) |
|
noncoding transcript |
Het |
| Ap4e1 |
T |
C |
2: 126,885,678 (GRCm39) |
|
probably null |
Het |
| Apbb1ip |
T |
C |
2: 22,713,610 (GRCm39) |
|
probably null |
Het |
| Apol11b |
T |
A |
15: 77,519,466 (GRCm39) |
I205F |
probably damaging |
Het |
| Arl6ip1 |
A |
T |
7: 117,728,775 (GRCm39) |
|
probably null |
Het |
| Barx2 |
A |
G |
9: 31,758,108 (GRCm39) |
S277P |
unknown |
Het |
| BC035947 |
T |
G |
1: 78,474,513 (GRCm39) |
D673A |
probably damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,564,206 (GRCm39) |
I930F |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,292 (GRCm39) |
V63A |
possibly damaging |
Het |
| Cdk8 |
A |
G |
5: 146,233,209 (GRCm39) |
K236E |
probably damaging |
Het |
| Cds1 |
T |
C |
5: 101,969,389 (GRCm39) |
L449P |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,822,154 (GRCm39) |
D1721G |
possibly damaging |
Het |
| Chtf18 |
T |
C |
17: 25,938,231 (GRCm39) |
D934G |
probably benign |
Het |
| Clk4 |
T |
A |
11: 51,172,150 (GRCm39) |
L271Q |
probably damaging |
Het |
| Cnnm1 |
C |
A |
19: 43,480,014 (GRCm39) |
T853N |
probably benign |
Het |
| Col26a1 |
A |
G |
5: 136,865,579 (GRCm39) |
V103A |
probably damaging |
Het |
| D5Ertd579e |
C |
T |
5: 36,786,996 (GRCm39) |
|
probably null |
Het |
| Ddx39a |
A |
G |
8: 84,447,724 (GRCm39) |
K190E |
probably damaging |
Het |
| Dgkg |
G |
A |
16: 22,393,943 (GRCm39) |
|
probably benign |
Het |
| Dnajc14 |
A |
T |
10: 128,649,926 (GRCm39) |
H477L |
probably benign |
Het |
| Dytn |
A |
G |
1: 63,682,525 (GRCm39) |
V374A |
probably benign |
Het |
| Gfra2 |
T |
C |
14: 71,163,361 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Gzmm |
A |
T |
10: 79,530,890 (GRCm39) |
T231S |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,480,570 (GRCm39) |
S499P |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,794,948 (GRCm39) |
I511V |
probably benign |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,647 (GRCm39) |
D361G |
possibly damaging |
Het |
| Ikzf3 |
A |
G |
11: 98,381,400 (GRCm39) |
V60A |
probably benign |
Het |
| Ipo4 |
G |
C |
14: 55,868,313 (GRCm39) |
R495G |
possibly damaging |
Het |
| Kat2b-ps |
A |
T |
5: 93,540,392 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Mblac2 |
T |
A |
13: 81,898,428 (GRCm39) |
L268* |
probably null |
Het |
| Mipep |
C |
T |
14: 61,040,401 (GRCm39) |
T307I |
probably damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,281,404 (GRCm39) |
S385P |
possibly damaging |
Het |
| Myh2 |
T |
A |
11: 67,077,328 (GRCm39) |
I821N |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,152,306 (GRCm39) |
I65F |
probably damaging |
Het |
| Neurog1 |
A |
G |
13: 56,399,579 (GRCm39) |
L56P |
probably benign |
Het |
| Nrsn1 |
C |
A |
13: 25,437,580 (GRCm39) |
C116F |
probably benign |
Het |
| Nscme3l |
A |
T |
19: 5,553,028 (GRCm39) |
M251K |
possibly damaging |
Het |
| Nynrin |
T |
C |
14: 56,102,326 (GRCm39) |
V665A |
probably benign |
Het |
| Or10w1 |
A |
G |
19: 13,631,882 (GRCm39) |
M30V |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,175 (GRCm39) |
Y104* |
probably null |
Het |
| Or5ak20 |
T |
C |
2: 85,183,425 (GRCm39) |
I282V |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,854,688 (GRCm39) |
S67P |
probably benign |
Het |
| Pcdhac1 |
C |
T |
18: 37,224,231 (GRCm39) |
S348L |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,620,976 (GRCm39) |
I932T |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,827,228 (GRCm39) |
T486I |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,126,025 (GRCm39) |
M1115K |
possibly damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,631,828 (GRCm39) |
W173R |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,338,239 (GRCm39) |
C900S |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,731,983 (GRCm39) |
V2319A |
probably damaging |
Het |
| Scnn1g |
AATCCTGCAGGTGA |
AA |
7: 121,362,303 (GRCm39) |
|
probably null |
Het |
| Slc25a13 |
A |
T |
6: 6,109,213 (GRCm39) |
L383H |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,950,383 (GRCm39) |
P325L |
probably damaging |
Het |
| Stoml2 |
T |
C |
4: 43,029,882 (GRCm39) |
N162S |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,299,310 (GRCm39) |
Q982K |
possibly damaging |
Het |
| Tbc1d31 |
C |
T |
15: 57,814,502 (GRCm39) |
Q568* |
probably null |
Het |
| Tbc1d9 |
G |
A |
8: 83,982,554 (GRCm39) |
|
probably null |
Het |
| Tbx3 |
A |
G |
5: 119,818,577 (GRCm39) |
D384G |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,309,533 (GRCm39) |
I14V |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,943,076 (GRCm39) |
V588E |
probably benign |
Het |
| Tpk1 |
A |
C |
6: 43,570,012 (GRCm39) |
|
probably benign |
Het |
| Tspear |
A |
T |
10: 77,612,791 (GRCm39) |
|
probably null |
Het |
| Ubxn10 |
G |
T |
4: 138,448,515 (GRCm39) |
Q54K |
possibly damaging |
Het |
| Ubxn4 |
C |
T |
1: 128,194,141 (GRCm39) |
R312* |
probably null |
Het |
| Vmn1r230 |
A |
T |
17: 21,067,345 (GRCm39) |
K178M |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,687,976 (GRCm39) |
V445I |
probably damaging |
Het |
| Zfp688 |
C |
A |
7: 127,021,057 (GRCm39) |
W40C |
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 |
|
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'- ATGAGCCAGGATGCTGGATG -3'
(R):5'- ACTTTCAACTCAGTGATCCAAGG -3'
Sequencing Primer
(F):5'- GGAAGTGCCAAGAAAGTCACTTTTTC -3'
(R):5'- TGATCCAAGGCAACAATGGTTC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation