Incidental Mutation 'R2180:Grik4'
| ID |
237131 |
| 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 |
040182-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R2180 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42453301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 695
(Y695N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034515]
[ENSMUST00000114865]
|
| AlphaFold |
Q8BMF5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034515
AA Change: Y695N
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017
AA Change: Y695N
| 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 benign
Transcript: ENSMUST00000114865
AA Change: Y695N
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110515
Gene: ENSMUSG00000032017
AA Change: Y695N
| 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: 98.7%
- 10x: 97.4%
- 20x: 95.1%
|
| 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 |
|---|
| Adamts5 |
T |
C |
16: 85,684,812 (GRCm39) |
D377G |
probably damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,205,779 (GRCm39) |
I164F |
probably damaging |
Het |
| Anxa9 |
T |
C |
3: 95,213,735 (GRCm39) |
|
probably null |
Het |
| Aox4 |
A |
T |
1: 58,252,226 (GRCm39) |
T34S |
probably benign |
Het |
| Asic1 |
G |
T |
15: 99,569,846 (GRCm39) |
V56F |
probably benign |
Het |
| Atpaf1 |
T |
C |
4: 115,645,557 (GRCm39) |
M1T |
probably null |
Het |
| Axin1 |
A |
G |
17: 26,362,309 (GRCm39) |
T218A |
probably benign |
Het |
| Bdp1 |
ATTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTC |
13: 100,197,913 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,919,146 (GRCm39) |
I1988T |
probably benign |
Het |
| Btbd7 |
A |
T |
12: 102,752,156 (GRCm39) |
D869E |
probably damaging |
Het |
| Caln1 |
T |
C |
5: 130,868,249 (GRCm39) |
*220Q |
probably null |
Het |
| Ccdc150 |
G |
A |
1: 54,311,706 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
A |
T |
15: 98,441,481 (GRCm39) |
S596T |
possibly damaging |
Het |
| Cd44 |
C |
T |
2: 102,658,955 (GRCm39) |
G640E |
possibly damaging |
Het |
| Cep192 |
A |
G |
18: 67,957,813 (GRCm39) |
E582G |
possibly damaging |
Het |
| Clcnkb |
G |
T |
4: 141,136,819 (GRCm39) |
|
probably null |
Het |
| Dhx29 |
T |
C |
13: 113,099,406 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
C |
17: 31,059,621 (GRCm39) |
F4407S |
probably benign |
Het |
| Enah |
A |
T |
1: 181,746,024 (GRCm39) |
M419K |
probably damaging |
Het |
| Fancd2 |
A |
T |
6: 113,551,598 (GRCm39) |
T1055S |
probably benign |
Het |
| Gigyf2 |
G |
A |
1: 87,344,642 (GRCm39) |
G525D |
probably damaging |
Het |
| Gm5800 |
T |
A |
14: 51,953,451 (GRCm39) |
K55* |
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,511,489 (GRCm39) |
L170P |
probably damaging |
Het |
| Gsg1 |
A |
T |
6: 135,217,143 (GRCm39) |
V228D |
probably damaging |
Het |
| Helb |
G |
A |
10: 119,941,353 (GRCm39) |
T445M |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,875,525 (GRCm39) |
D1656E |
probably damaging |
Het |
| Hyou1 |
A |
T |
9: 44,299,316 (GRCm39) |
K669M |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,985,917 (GRCm39) |
N953D |
possibly damaging |
Het |
| Ldhd |
T |
C |
8: 112,356,018 (GRCm39) |
I122V |
probably benign |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,329 (GRCm39) |
D262G |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,673,927 (GRCm39) |
|
probably null |
Het |
| Msantd5l |
C |
A |
11: 51,145,437 (GRCm39) |
W50L |
probably damaging |
Het |
| Niban1 |
A |
T |
1: 151,593,829 (GRCm39) |
H838L |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,649,197 (GRCm39) |
I976T |
probably benign |
Het |
| Or10x1 |
A |
G |
1: 174,196,967 (GRCm39) |
I161M |
probably damaging |
Het |
| Or2a12 |
C |
T |
6: 42,904,459 (GRCm39) |
T98I |
probably benign |
Het |
| Or4f14b |
A |
G |
2: 111,775,348 (GRCm39) |
V151A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,706,092 (GRCm39) |
I213T |
probably benign |
Het |
| Patj |
G |
A |
4: 98,411,739 (GRCm39) |
|
probably null |
Het |
| Pfas |
T |
C |
11: 68,883,013 (GRCm39) |
D757G |
possibly damaging |
Het |
| Pom121l2 |
A |
G |
13: 22,166,145 (GRCm39) |
N139D |
probably benign |
Het |
| Ppp2r3d |
A |
T |
9: 101,004,214 (GRCm39) |
Y994* |
probably null |
Het |
| Ppp6c |
T |
C |
2: 39,087,525 (GRCm39) |
D227G |
probably benign |
Het |
| Ptpn13 |
T |
G |
5: 103,717,424 (GRCm39) |
H1855Q |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,604,867 (GRCm39) |
Q59L |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,283,972 (GRCm39) |
K669E |
probably benign |
Het |
| Rbl2 |
T |
C |
8: 91,816,683 (GRCm39) |
S348P |
possibly damaging |
Het |
| Rptor |
T |
A |
11: 119,615,970 (GRCm39) |
N161K |
probably damaging |
Het |
| Satb1 |
C |
T |
17: 52,110,524 (GRCm39) |
A192T |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,345,117 (GRCm39) |
V1083A |
probably benign |
Het |
| Sec14l2 |
C |
T |
11: 4,058,964 (GRCm39) |
A194T |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 79,862,583 (GRCm39) |
N53S |
probably benign |
Het |
| Sin3b |
T |
A |
8: 73,479,923 (GRCm39) |
Y876* |
probably null |
Het |
| Smchd1 |
C |
A |
17: 71,770,794 (GRCm39) |
M129I |
probably benign |
Het |
| Spmip6 |
T |
A |
4: 41,507,170 (GRCm39) |
M209L |
probably benign |
Het |
| Tmc1 |
T |
C |
19: 20,801,448 (GRCm39) |
Y484C |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,656,801 (GRCm39) |
S135P |
probably damaging |
Het |
| Zfp266 |
A |
T |
9: 20,410,975 (GRCm39) |
C401S |
probably damaging |
Het |
| Zfp738 |
G |
A |
13: 67,819,313 (GRCm39) |
T226I |
probably damaging |
Het |
| Zfp871 |
G |
A |
17: 32,994,275 (GRCm39) |
T300M |
probably damaging |
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 |
|
R2203:Grik4
|
UTSW |
9 |
42,458,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CATACCGACTGGCATGCCAATC -3'
(R):5'- CAATAGCAGTGACCCTCTTGG -3'
Sequencing Primer
(F):5'- TGGCATGCCAATCCCATAG -3'
(R):5'- CCTCTTGGGGTGAGATGATAGAAAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation