Incidental Mutation 'R2203:Grik4'
ID |
238840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik4
|
Ensembl Gene |
ENSMUSG00000032017 |
Gene Name |
glutamate receptor, ionotropic, kainate 4 |
Synonyms |
KA1, 6330551K01Rik, GluRgamma1, KA-1 |
MMRRC Submission |
040205-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R2203 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 42458951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 596
(S596C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034515]
[ENSMUST00000114865]
|
AlphaFold |
Q8BMF5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034515
AA Change: S596C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034515 Gene: ENSMUSG00000032017 AA Change: S596C
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
41 |
382 |
2.7e-60 |
PFAM |
PBPe
|
417 |
786 |
1.88e-132 |
SMART |
Lig_chan-Glu_bd
|
427 |
491 |
5.91e-31 |
SMART |
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
low complexity region
|
900 |
913 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114865
AA Change: S596C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110515 Gene: ENSMUSG00000032017 AA Change: S596C
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
41 |
382 |
5.1e-66 |
PFAM |
PBPe
|
417 |
786 |
1.88e-132 |
SMART |
Lig_chan-Glu_bd
|
427 |
491 |
5.91e-31 |
SMART |
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
low complexity region
|
900 |
913 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced GYKI-resistant excitatory postsynaptic current. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
A |
4: 53,090,291 (GRCm39) |
T386I |
probably damaging |
Het |
Abcc5 |
C |
G |
16: 20,224,632 (GRCm39) |
L44F |
possibly damaging |
Het |
Abi3bp |
T |
G |
16: 56,433,566 (GRCm39) |
L550R |
probably benign |
Het |
Brca2 |
T |
A |
5: 150,462,967 (GRCm39) |
D910E |
possibly damaging |
Het |
Cacna1h |
C |
T |
17: 25,599,234 (GRCm39) |
A1742T |
probably damaging |
Het |
Cartpt |
A |
T |
13: 100,037,133 (GRCm39) |
S4T |
probably benign |
Het |
Ccdc66 |
T |
A |
14: 27,208,790 (GRCm39) |
D488V |
probably benign |
Het |
Cdan1 |
C |
A |
2: 120,551,241 (GRCm39) |
C1093F |
probably damaging |
Het |
Cfap45 |
T |
C |
1: 172,359,728 (GRCm39) |
V76A |
probably benign |
Het |
Clptm1 |
G |
T |
7: 19,367,817 (GRCm39) |
F598L |
possibly damaging |
Het |
Cntrl |
G |
A |
2: 35,033,749 (GRCm39) |
V257I |
possibly damaging |
Het |
Cpa1 |
A |
G |
6: 30,641,818 (GRCm39) |
D214G |
probably damaging |
Het |
Crebbp |
A |
C |
16: 3,956,641 (GRCm39) |
M394R |
possibly damaging |
Het |
Ctnnd1 |
A |
G |
2: 84,447,024 (GRCm39) |
L407P |
probably damaging |
Het |
Cttnbp2 |
T |
G |
6: 18,408,693 (GRCm39) |
D976A |
probably benign |
Het |
Dicer1 |
C |
T |
12: 104,697,297 (GRCm39) |
V87M |
possibly damaging |
Het |
Elapor1 |
C |
T |
3: 108,382,359 (GRCm39) |
G270E |
probably damaging |
Het |
Fam184a |
T |
A |
10: 53,528,530 (GRCm39) |
Q29L |
probably damaging |
Het |
Flnc |
C |
T |
6: 29,459,507 (GRCm39) |
P2536S |
probably damaging |
Het |
Gapdh |
A |
T |
6: 125,139,569 (GRCm39) |
S165T |
probably benign |
Het |
Gm6370 |
T |
A |
5: 146,430,539 (GRCm39) |
D241E |
probably benign |
Het |
Gtf2e1 |
T |
A |
16: 37,331,904 (GRCm39) |
E390D |
possibly damaging |
Het |
Hmgcr |
A |
G |
13: 96,793,141 (GRCm39) |
L497P |
probably damaging |
Het |
Hmgcs2 |
T |
A |
3: 98,198,499 (GRCm39) |
I134N |
probably damaging |
Het |
Htr5b |
T |
C |
1: 121,455,693 (GRCm39) |
T76A |
probably damaging |
Het |
Iars1 |
A |
G |
13: 49,876,151 (GRCm39) |
E812G |
probably benign |
Het |
Ints8 |
A |
T |
4: 11,225,712 (GRCm39) |
M615K |
possibly damaging |
Het |
Jmjd1c |
A |
G |
10: 67,075,242 (GRCm39) |
|
probably null |
Het |
Kcnj5 |
T |
C |
9: 32,234,196 (GRCm39) |
T40A |
probably benign |
Het |
Knstrn |
T |
A |
2: 118,661,456 (GRCm39) |
|
probably null |
Het |
Map2k2 |
T |
C |
10: 80,955,213 (GRCm39) |
S14P |
probably damaging |
Het |
Med26 |
T |
C |
8: 73,249,746 (GRCm39) |
E451G |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,323,165 (GRCm39) |
M2081K |
probably benign |
Het |
Nectin4 |
G |
A |
1: 171,213,797 (GRCm39) |
V433M |
possibly damaging |
Het |
Nop56 |
T |
A |
2: 130,119,488 (GRCm39) |
I51N |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Nudt5 |
A |
T |
2: 5,860,794 (GRCm39) |
I22F |
possibly damaging |
Het |
Or4p23 |
C |
G |
2: 88,576,953 (GRCm39) |
G93A |
probably benign |
Het |
Pbrm1 |
A |
G |
14: 30,754,406 (GRCm39) |
D142G |
possibly damaging |
Het |
Pdcl |
A |
T |
2: 37,242,056 (GRCm39) |
N231K |
probably benign |
Het |
Pkd1 |
G |
T |
17: 24,799,863 (GRCm39) |
A591S |
probably benign |
Het |
Plcb4 |
T |
C |
2: 135,844,514 (GRCm39) |
I144T |
probably benign |
Het |
Prrc2b |
C |
A |
2: 32,113,476 (GRCm39) |
Q1970K |
probably damaging |
Het |
Rabep1 |
A |
C |
11: 70,825,400 (GRCm39) |
E689A |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,659,585 (GRCm39) |
|
probably null |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Saxo1 |
A |
C |
4: 86,363,998 (GRCm39) |
Y162D |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sipa1l2 |
A |
T |
8: 126,218,366 (GRCm39) |
W324R |
probably damaging |
Het |
Slc19a1 |
T |
C |
10: 76,877,758 (GRCm39) |
C98R |
possibly damaging |
Het |
Slc26a8 |
G |
T |
17: 28,866,981 (GRCm39) |
L583I |
probably benign |
Het |
Spata31d1d |
A |
G |
13: 59,879,435 (GRCm39) |
C34R |
possibly damaging |
Het |
Stoml2 |
G |
T |
4: 43,030,243 (GRCm39) |
Y119* |
probably null |
Het |
Susd1 |
A |
G |
4: 59,349,843 (GRCm39) |
L531P |
possibly damaging |
Het |
Tnfsf14 |
T |
C |
17: 57,497,638 (GRCm39) |
D198G |
possibly damaging |
Het |
Ttc39a |
A |
G |
4: 109,288,785 (GRCm39) |
N293S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,601,985 (GRCm39) |
N18559S |
possibly damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,250,083 (GRCm39) |
N729K |
probably benign |
Het |
Zbtb47 |
A |
G |
9: 121,591,703 (GRCm39) |
T8A |
possibly damaging |
Het |
Zfp712 |
T |
A |
13: 67,190,048 (GRCm39) |
T160S |
probably benign |
Het |
|
Other mutations in Grik4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01432:Grik4
|
APN |
9 |
42,432,472 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01929:Grik4
|
APN |
9 |
42,477,594 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02049:Grik4
|
APN |
9 |
42,455,049 (GRCm39) |
splice site |
probably benign |
|
IGL02331:Grik4
|
APN |
9 |
42,453,284 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02652:Grik4
|
APN |
9 |
42,586,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02817:Grik4
|
APN |
9 |
42,534,235 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02945:Grik4
|
APN |
9 |
42,509,175 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03100:Grik4
|
APN |
9 |
42,461,751 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03168:Grik4
|
APN |
9 |
42,582,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Grik4
|
UTSW |
9 |
42,533,392 (GRCm39) |
nonsense |
probably null |
|
R0894:Grik4
|
UTSW |
9 |
42,599,405 (GRCm39) |
splice site |
probably benign |
|
R1458:Grik4
|
UTSW |
9 |
42,432,418 (GRCm39) |
missense |
probably benign |
0.21 |
R1502:Grik4
|
UTSW |
9 |
42,502,743 (GRCm39) |
missense |
probably benign |
0.03 |
R1502:Grik4
|
UTSW |
9 |
42,432,169 (GRCm39) |
missense |
probably damaging |
0.97 |
R1808:Grik4
|
UTSW |
9 |
42,540,322 (GRCm39) |
missense |
probably benign |
0.19 |
R1945:Grik4
|
UTSW |
9 |
42,432,300 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2180:Grik4
|
UTSW |
9 |
42,453,301 (GRCm39) |
missense |
probably benign |
0.45 |
R2336:Grik4
|
UTSW |
9 |
42,477,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Grik4
|
UTSW |
9 |
42,533,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R2890:Grik4
|
UTSW |
9 |
42,582,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R3702:Grik4
|
UTSW |
9 |
42,586,514 (GRCm39) |
missense |
probably damaging |
0.97 |
R3834:Grik4
|
UTSW |
9 |
42,540,419 (GRCm39) |
missense |
probably benign |
0.04 |
R4082:Grik4
|
UTSW |
9 |
42,509,180 (GRCm39) |
missense |
probably benign |
0.00 |
R4604:Grik4
|
UTSW |
9 |
42,435,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Grik4
|
UTSW |
9 |
42,540,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R5417:Grik4
|
UTSW |
9 |
42,582,544 (GRCm39) |
missense |
probably benign |
0.45 |
R5540:Grik4
|
UTSW |
9 |
42,432,243 (GRCm39) |
missense |
probably damaging |
0.99 |
R5680:Grik4
|
UTSW |
9 |
42,540,415 (GRCm39) |
missense |
probably benign |
|
R5740:Grik4
|
UTSW |
9 |
42,719,863 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5876:Grik4
|
UTSW |
9 |
42,599,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R5911:Grik4
|
UTSW |
9 |
42,502,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R6319:Grik4
|
UTSW |
9 |
42,477,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R6475:Grik4
|
UTSW |
9 |
42,540,304 (GRCm39) |
missense |
probably benign |
0.01 |
R6544:Grik4
|
UTSW |
9 |
42,459,024 (GRCm39) |
nonsense |
probably null |
|
R7065:Grik4
|
UTSW |
9 |
42,455,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R7278:Grik4
|
UTSW |
9 |
42,533,356 (GRCm39) |
missense |
probably benign |
0.25 |
R7605:Grik4
|
UTSW |
9 |
42,599,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R7984:Grik4
|
UTSW |
9 |
42,582,557 (GRCm39) |
nonsense |
probably null |
|
R8786:Grik4
|
UTSW |
9 |
42,453,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R9104:Grik4
|
UTSW |
9 |
42,571,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R9443:Grik4
|
UTSW |
9 |
42,571,037 (GRCm39) |
missense |
probably benign |
0.02 |
R9615:Grik4
|
UTSW |
9 |
42,502,765 (GRCm39) |
nonsense |
probably null |
|
X0028:Grik4
|
UTSW |
9 |
42,586,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTCTTTGCCATTGGAGAGG -3'
(R):5'- GCCAGGAAGATGAGTTGTGC -3'
Sequencing Primer
(F):5'- GTTGGCCTCAAACTCAGAGTTCAG -3'
(R):5'- AAGATGAGTTGTGCAGCTTTCCAG -3'
|
Posted On |
2014-10-02 |