Incidental Mutation 'R2336:Grik4'
ID |
246553 |
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 |
040323-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R2336 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42477651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 512
(D512N)
|
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: D512N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034515 Gene: ENSMUSG00000032017 AA Change: D512N
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: D512N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110515 Gene: ENSMUSG00000032017 AA Change: D512N
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 |
|
Meta Mutation Damage Score |
0.7675 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (38/38) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430110L20Rik |
T |
A |
1: 181,055,206 (GRCm39) |
|
noncoding transcript |
Het |
Arhgap21 |
G |
A |
2: 20,884,862 (GRCm39) |
R772C |
probably damaging |
Het |
Arid2 |
A |
G |
15: 96,260,430 (GRCm39) |
E393G |
probably damaging |
Het |
Atrn |
C |
T |
2: 130,799,874 (GRCm39) |
T417I |
probably damaging |
Het |
Baiap3 |
T |
C |
17: 25,469,378 (GRCm39) |
K173R |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,189,510 (GRCm39) |
N1497K |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,481,300 (GRCm39) |
V349A |
probably benign |
Het |
Chrnd |
T |
C |
1: 87,122,615 (GRCm39) |
F132S |
probably damaging |
Het |
Ddx42 |
A |
G |
11: 106,121,976 (GRCm39) |
M164V |
possibly damaging |
Het |
Dtwd2 |
A |
G |
18: 49,833,320 (GRCm39) |
|
probably benign |
Het |
Eprs1 |
T |
A |
1: 185,143,571 (GRCm39) |
|
probably benign |
Het |
Fut8 |
A |
G |
12: 77,459,730 (GRCm39) |
|
probably benign |
Het |
Gabrr3 |
C |
T |
16: 59,250,313 (GRCm39) |
T104M |
probably damaging |
Het |
Gcat |
G |
A |
15: 78,915,180 (GRCm39) |
R16H |
probably benign |
Het |
Gnb2 |
A |
T |
5: 137,527,460 (GRCm39) |
W125R |
probably damaging |
Het |
Hnf4g |
T |
C |
3: 3,706,284 (GRCm39) |
F60L |
probably benign |
Het |
Lrp6 |
A |
G |
6: 134,484,546 (GRCm39) |
I359T |
probably damaging |
Het |
Lrrfip2 |
A |
G |
9: 111,051,283 (GRCm39) |
D325G |
probably damaging |
Het |
Mttp |
A |
T |
3: 137,821,856 (GRCm39) |
I222K |
possibly damaging |
Het |
Myom1 |
A |
T |
17: 71,330,189 (GRCm39) |
H107L |
possibly damaging |
Het |
Obi1 |
G |
A |
14: 104,716,318 (GRCm39) |
P685L |
probably damaging |
Het |
Or10al4 |
A |
T |
17: 38,037,689 (GRCm39) |
Y258F |
probably benign |
Het |
Or2r11 |
A |
G |
6: 42,437,663 (GRCm39) |
C97R |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 45,006,121 (GRCm39) |
|
probably null |
Het |
Prokr2 |
A |
T |
2: 132,223,359 (GRCm39) |
M61K |
probably damaging |
Het |
Ptk2 |
A |
G |
15: 73,137,965 (GRCm39) |
C502R |
probably damaging |
Het |
Rbm25 |
T |
A |
12: 83,698,192 (GRCm39) |
W172R |
probably damaging |
Het |
Rdh16f1 |
A |
G |
10: 127,624,624 (GRCm39) |
K154R |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,305,430 (GRCm39) |
E554K |
probably benign |
Het |
St3gal6 |
A |
T |
16: 58,314,067 (GRCm39) |
I22K |
probably damaging |
Het |
Tut7 |
G |
T |
13: 59,946,868 (GRCm39) |
P585Q |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,782,258 (GRCm39) |
R387* |
probably null |
Het |
Vmn2r106 |
T |
C |
17: 20,488,470 (GRCm39) |
N643S |
probably benign |
Het |
Zdbf2 |
G |
T |
1: 63,342,623 (GRCm39) |
R334L |
probably benign |
Het |
Zfp868 |
G |
T |
8: 70,066,558 (GRCm39) |
|
probably null |
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 |
R2203:Grik4
|
UTSW |
9 |
42,458,951 (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'- AATAGCCCAGCGCATTTGC -3'
(R):5'- AGAAAACATGGATCCCAGCTTC -3'
Sequencing Primer
(F):5'- TAGCCCAGCGCATTTGCATTTAAG -3'
(R):5'- TCCACATGGGTCCTTCTGAGAG -3'
|
Posted On |
2014-10-30 |