Incidental Mutation 'R7230:Grik5'
| ID |
562417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik5
|
| Ensembl Gene |
ENSMUSG00000003378 |
| Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
| Synonyms |
KA2, GluRgamma2 |
| MMRRC Submission |
045302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R7230 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24722495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 538
(F538S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003468]
[ENSMUST00000205328]
[ENSMUST00000206134]
|
| AlphaFold |
Q61626 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003468
AA Change: F538S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: F538S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
40 |
381 |
3.4e-64 |
PFAM |
|
PBPe
|
416 |
785 |
3.7e-122 |
SMART |
|
Lig_chan-Glu_bd
|
426 |
490 |
1.65e-29 |
SMART |
|
transmembrane domain
|
804 |
823 |
N/A |
INTRINSIC |
|
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
962 |
973 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206134
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (50/50) |
| 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one allele display abnormal hippocampal synapse function. Mice homozygous for a second allele display decreased thermal nociception, increased startle response and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
C |
7: 45,766,812 (GRCm39) |
D989E |
probably benign |
Het |
| Adad1 |
A |
G |
3: 37,119,315 (GRCm39) |
Y132C |
probably damaging |
Het |
| Adam33 |
A |
T |
2: 130,895,483 (GRCm39) |
C579S |
probably damaging |
Het |
| Adam6a |
A |
C |
12: 113,509,202 (GRCm39) |
Q525P |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,743,042 (GRCm39) |
P953L |
probably damaging |
Het |
| Arb2a |
G |
A |
13: 77,907,591 (GRCm39) |
E5K |
probably damaging |
Het |
| Atat1 |
A |
G |
17: 36,220,331 (GRCm39) |
S54P |
probably damaging |
Het |
| Bpgm |
A |
G |
6: 34,464,502 (GRCm39) |
E73G |
possibly damaging |
Het |
| Cab39 |
T |
A |
1: 85,775,880 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,554,809 (GRCm39) |
L285P |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,196,979 (GRCm39) |
E429G |
possibly damaging |
Het |
| Cct3 |
C |
T |
3: 88,220,567 (GRCm39) |
R260W |
probably damaging |
Het |
| Chd1 |
C |
A |
17: 15,927,199 (GRCm39) |
|
probably null |
Het |
| Cxcr4 |
T |
G |
1: 128,517,527 (GRCm39) |
T45P |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,622,286 (GRCm39) |
R1006L |
probably damaging |
Het |
| Dlec1 |
T |
G |
9: 118,953,606 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
G |
3: 106,480,294 (GRCm39) |
Y202* |
probably null |
Het |
| Etl4 |
C |
A |
2: 20,802,799 (GRCm39) |
T1035K |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,012,522 (GRCm39) |
F479L |
probably benign |
Het |
| Frrs1l |
C |
A |
4: 56,972,372 (GRCm39) |
G110W |
probably damaging |
Het |
| Gpbp1l1 |
T |
A |
4: 116,445,807 (GRCm39) |
I303N |
probably damaging |
Het |
| Hgsnat |
C |
A |
8: 26,444,860 (GRCm39) |
|
probably null |
Het |
| Hs2st1 |
T |
C |
3: 144,140,307 (GRCm39) |
D338G |
probably benign |
Het |
| Impdh1 |
T |
C |
6: 29,206,062 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
T |
C |
1: 135,334,496 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
T |
G |
17: 56,676,155 (GRCm39) |
L220R |
probably damaging |
Het |
| Map1a |
T |
A |
2: 121,131,299 (GRCm39) |
F705Y |
probably damaging |
Het |
| Med22 |
C |
T |
2: 26,798,223 (GRCm39) |
D99N |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,235,479 (GRCm39) |
Y519C |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,833,873 (GRCm39) |
I25M |
probably damaging |
Het |
| Ncam1 |
T |
A |
9: 49,421,123 (GRCm39) |
I731F |
probably benign |
Het |
| Nlrp4f |
T |
A |
13: 65,342,715 (GRCm39) |
H310L |
probably benign |
Het |
| Or2ag1b |
A |
T |
7: 106,288,731 (GRCm39) |
M69K |
possibly damaging |
Het |
| Or2ag2b |
C |
A |
7: 106,417,386 (GRCm39) |
T32K |
possibly damaging |
Het |
| Or4f14 |
T |
A |
2: 111,742,906 (GRCm39) |
Y123F |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,251,261 (GRCm39) |
F12I |
probably damaging |
Het |
| Prl8a6 |
T |
A |
13: 27,617,021 (GRCm39) |
Y223F |
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,541,228 (GRCm39) |
D244G |
probably damaging |
Het |
| Ptx4 |
A |
T |
17: 25,342,077 (GRCm39) |
Q184L |
possibly damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,611 (GRCm39) |
D545E |
probably damaging |
Het |
| Slc7a12 |
T |
C |
3: 14,570,441 (GRCm39) |
S398P |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,639,931 (GRCm39) |
V241A |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,511,324 (GRCm39) |
D109G |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,980,674 (GRCm39) |
I1477K |
probably benign |
Het |
| Timd4 |
A |
T |
11: 46,701,691 (GRCm39) |
Y18F |
probably benign |
Het |
| Tmprss2 |
A |
G |
16: 97,379,797 (GRCm39) |
Y168H |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,569,044 (GRCm39) |
I27283K |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Vasn |
C |
T |
16: 4,467,486 (GRCm39) |
R478C |
probably benign |
Het |
| Zfp58 |
A |
T |
13: 67,640,082 (GRCm39) |
C136* |
probably null |
Het |
|
| Other mutations in Grik5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Grik5
|
APN |
7 |
24,764,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00974:Grik5
|
APN |
7 |
24,713,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01941:Grik5
|
APN |
7 |
24,764,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:Grik5
|
APN |
7 |
24,758,408 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL03177:Grik5
|
APN |
7 |
24,714,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03402:Grik5
|
APN |
7 |
24,714,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Griffin
|
UTSW |
7 |
24,758,502 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
G1citation:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
PIT4453001:Grik5
|
UTSW |
7 |
24,710,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0077:Grik5
|
UTSW |
7 |
24,722,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Grik5
|
UTSW |
7 |
24,713,099 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0427:Grik5
|
UTSW |
7 |
24,757,923 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1191:Grik5
|
UTSW |
7 |
24,757,750 (GRCm39) |
nonsense |
probably null |
|
|
R1830:Grik5
|
UTSW |
7 |
24,745,726 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2072:Grik5
|
UTSW |
7 |
24,714,738 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2369:Grik5
|
UTSW |
7 |
24,757,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Grik5
|
UTSW |
7 |
24,762,397 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3411:Grik5
|
UTSW |
7 |
24,762,397 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3615:Grik5
|
UTSW |
7 |
24,721,996 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3616:Grik5
|
UTSW |
7 |
24,721,996 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4600:Grik5
|
UTSW |
7 |
24,767,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4658:Grik5
|
UTSW |
7 |
24,760,152 (GRCm39) |
splice site |
probably benign |
|
|
R4735:Grik5
|
UTSW |
7 |
24,757,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Grik5
|
UTSW |
7 |
24,714,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5113:Grik5
|
UTSW |
7 |
24,714,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Grik5
|
UTSW |
7 |
24,710,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5132:Grik5
|
UTSW |
7 |
24,764,629 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5173:Grik5
|
UTSW |
7 |
24,762,319 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5186:Grik5
|
UTSW |
7 |
24,715,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Grik5
|
UTSW |
7 |
24,764,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Grik5
|
UTSW |
7 |
24,758,502 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6335:Grik5
|
UTSW |
7 |
24,713,019 (GRCm39) |
missense |
probably benign |
|
|
R6609:Grik5
|
UTSW |
7 |
24,714,951 (GRCm39) |
nonsense |
probably null |
|
|
R6760:Grik5
|
UTSW |
7 |
24,758,364 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6820:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6821:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6822:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6824:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7173:Grik5
|
UTSW |
7 |
24,767,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Grik5
|
UTSW |
7 |
24,760,022 (GRCm39) |
missense |
probably benign |
|
|
R7560:Grik5
|
UTSW |
7 |
24,757,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7571:Grik5
|
UTSW |
7 |
24,713,310 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8228:Grik5
|
UTSW |
7 |
24,745,735 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8228:Grik5
|
UTSW |
7 |
24,709,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Grik5
|
UTSW |
7 |
24,709,897 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8879:Grik5
|
UTSW |
7 |
24,722,489 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8933:Grik5
|
UTSW |
7 |
24,722,743 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9129:Grik5
|
UTSW |
7 |
24,767,429 (GRCm39) |
splice site |
probably benign |
|
|
R9130:Grik5
|
UTSW |
7 |
24,767,429 (GRCm39) |
splice site |
probably benign |
|
|
R9154:Grik5
|
UTSW |
7 |
24,758,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9317:Grik5
|
UTSW |
7 |
24,745,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9355:Grik5
|
UTSW |
7 |
24,767,597 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9406:Grik5
|
UTSW |
7 |
24,757,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0017:Grik5
|
UTSW |
7 |
24,760,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Grik5
|
UTSW |
7 |
24,713,229 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Grik5
|
UTSW |
7 |
24,715,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTGTTCAGCCAACAGAAG -3'
(R):5'- ACATGGTATGTCTCCCTGGG -3'
Sequencing Primer
(F):5'- TGTTCAGCCAACAGAAGAGGGAC -3'
(R):5'- AGTGGCTGTGACCTAGCACAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation