Incidental Mutation 'R6319:Grik4'
ID |
509343 |
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 |
044474-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R6319 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 42477632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 518
(M518K)
|
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: M518K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000034515 Gene: ENSMUSG00000032017 AA Change: M518K
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: M518K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000110515 Gene: ENSMUSG00000032017 AA Change: M518K
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 |
0.6501 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
T |
C |
6: 58,651,723 (GRCm39) |
S372P |
probably benign |
Het |
Adam34 |
A |
G |
8: 44,104,952 (GRCm39) |
I231T |
probably benign |
Het |
Adgrg6 |
T |
A |
10: 14,307,366 (GRCm39) |
H840L |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,750,978 (GRCm39) |
T470A |
probably benign |
Het |
Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
B430306N03Rik |
A |
T |
17: 48,623,771 (GRCm39) |
Q24L |
probably damaging |
Het |
Bmp6 |
A |
T |
13: 38,530,390 (GRCm39) |
H161L |
probably benign |
Het |
Cdca8 |
C |
A |
4: 124,815,087 (GRCm39) |
D177Y |
possibly damaging |
Het |
Col14a1 |
A |
G |
15: 55,379,565 (GRCm39) |
T1693A |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,481,167 (GRCm39) |
S1230P |
probably damaging |
Het |
Dcaf13 |
A |
G |
15: 39,007,067 (GRCm39) |
T334A |
probably benign |
Het |
Dhx32 |
A |
C |
7: 133,338,955 (GRCm39) |
V360G |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 49,985,367 (GRCm39) |
T205A |
probably benign |
Het |
Dxo |
A |
G |
17: 35,057,367 (GRCm39) |
E253G |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,523,929 (GRCm39) |
Y747C |
probably damaging |
Het |
Gga2 |
T |
C |
7: 121,601,389 (GRCm39) |
E238G |
possibly damaging |
Het |
Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
Igf2r |
T |
A |
17: 12,933,000 (GRCm39) |
S841C |
probably damaging |
Het |
Itfg1 |
G |
T |
8: 86,567,258 (GRCm39) |
T37K |
probably damaging |
Het |
Kcnn4 |
T |
A |
7: 24,081,165 (GRCm39) |
M301K |
possibly damaging |
Het |
Kel |
C |
A |
6: 41,679,381 (GRCm39) |
E127D |
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,310,666 (GRCm39) |
Y569C |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,518,798 (GRCm39) |
V89D |
possibly damaging |
Het |
Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
Mnd1 |
A |
G |
3: 84,049,071 (GRCm39) |
S2P |
possibly damaging |
Het |
Neb |
T |
A |
2: 52,053,023 (GRCm39) |
|
probably null |
Het |
Or51af1 |
T |
C |
7: 103,141,932 (GRCm39) |
E51G |
possibly damaging |
Het |
Or5h23 |
A |
G |
16: 58,906,384 (GRCm39) |
I154T |
probably benign |
Het |
Or8g17 |
A |
G |
9: 38,930,810 (GRCm39) |
V9A |
probably damaging |
Het |
Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
Plekhm3 |
A |
T |
1: 64,961,093 (GRCm39) |
Y388N |
probably benign |
Het |
Prr18 |
G |
T |
17: 8,560,143 (GRCm39) |
V100F |
probably damaging |
Het |
Rnf25 |
T |
C |
1: 74,634,890 (GRCm39) |
Y44C |
probably damaging |
Het |
Smg6 |
T |
C |
11: 75,047,048 (GRCm39) |
L1247P |
probably damaging |
Het |
Spata31e2 |
G |
A |
1: 26,724,482 (GRCm39) |
R233C |
probably benign |
Het |
Tdh |
T |
C |
14: 63,733,186 (GRCm39) |
T137A |
probably benign |
Het |
Tmem200a |
A |
G |
10: 25,869,393 (GRCm39) |
V292A |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,803,758 (GRCm39) |
V1116A |
probably benign |
Het |
Ubr4 |
G |
A |
4: 139,136,200 (GRCm39) |
E942K |
possibly damaging |
Het |
Unc5b |
G |
A |
10: 60,614,580 (GRCm39) |
A239V |
probably damaging |
Het |
Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
Vmn2r115 |
A |
G |
17: 23,566,877 (GRCm39) |
E463G |
possibly 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 |
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 |
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 |
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'- AGTTCCTGCAGCTGATGGAAG -3'
(R):5'- CACATGGGTCCTTCTGAGAG -3'
Sequencing Primer
(F):5'- CATGTAACTCGGTGTTTGC -3'
(R):5'- TGGTTTAGATCCTGATAGAGCCAAG -3'
|
Posted On |
2018-04-02 |