Incidental Mutation 'R6821:Grik5'
| ID |
537620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik5
|
| Ensembl Gene |
ENSMUSG00000003378 |
| Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
| Synonyms |
KA2, GluRgamma2 |
| MMRRC Submission |
044933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R6821 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24745780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 431
(R431Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003468]
[ENSMUST00000205328]
[ENSMUST00000206134]
|
| AlphaFold |
Q61626 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003468
AA Change: R431Q
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: R431Q
| 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 |
0.3029 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,277,268 (GRCm39) |
I417T |
probably benign |
Het |
| Adamts12 |
A |
C |
15: 11,152,134 (GRCm39) |
K208T |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,867,922 (GRCm39) |
L582Q |
probably benign |
Het |
| Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
| Ano9 |
A |
T |
7: 140,687,169 (GRCm39) |
F357I |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,189,547 (GRCm39) |
V416A |
probably benign |
Het |
| Arhgap21 |
A |
C |
2: 20,853,659 (GRCm39) |
F1901C |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,855,480 (GRCm39) |
F506I |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,890,463 (GRCm39) |
L292H |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,963,712 (GRCm39) |
V891A |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,731,072 (GRCm39) |
S650P |
probably damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,085,044 (GRCm39) |
N791Y |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| D630003M21Rik |
A |
C |
2: 158,046,694 (GRCm39) |
L761R |
probably damaging |
Het |
| Draxin |
G |
T |
4: 148,200,148 (GRCm39) |
Q101K |
possibly damaging |
Het |
| Dtx3l |
A |
T |
16: 35,753,430 (GRCm39) |
L392Q |
probably damaging |
Het |
| Eif3d |
A |
G |
15: 77,845,855 (GRCm39) |
S389P |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,359,582 (GRCm39) |
N757S |
possibly damaging |
Het |
| Fam228b |
T |
C |
12: 4,813,083 (GRCm39) |
I96V |
probably benign |
Het |
| Gars1 |
A |
G |
6: 55,056,323 (GRCm39) |
E728G |
probably benign |
Het |
| Gldn |
T |
C |
9: 54,246,054 (GRCm39) |
M535T |
probably benign |
Het |
| Gm47985 |
A |
G |
1: 151,058,787 (GRCm39) |
T143A |
possibly damaging |
Het |
| Gpr6 |
T |
C |
10: 40,947,004 (GRCm39) |
T193A |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,438,719 (GRCm39) |
Y1315F |
probably damaging |
Het |
| Hs3st2 |
A |
G |
7: 121,099,745 (GRCm39) |
D197G |
possibly damaging |
Het |
| Igsf9 |
T |
C |
1: 172,312,060 (GRCm39) |
I2T |
probably benign |
Het |
| Ints9 |
A |
G |
14: 65,274,907 (GRCm39) |
E621G |
probably benign |
Het |
| Itm2b |
G |
A |
14: 73,603,907 (GRCm39) |
P47S |
probably benign |
Het |
| Map10 |
A |
G |
8: 126,397,138 (GRCm39) |
K177R |
probably benign |
Het |
| Mdh2 |
T |
C |
5: 135,818,525 (GRCm39) |
F260S |
possibly damaging |
Het |
| Mtmr11 |
A |
G |
3: 96,077,723 (GRCm39) |
T573A |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,376,845 (GRCm39) |
I3812N |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,415,301 (GRCm39) |
N3403S |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,954,535 (GRCm39) |
Q343* |
probably null |
Het |
| Ocstamp |
A |
T |
2: 165,239,842 (GRCm39) |
S115T |
probably benign |
Het |
| Or51ai2 |
A |
T |
7: 103,586,793 (GRCm39) |
I69F |
probably benign |
Het |
| Otoa |
G |
A |
7: 120,692,070 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
A |
T |
18: 37,639,175 (GRCm39) |
N567I |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,839,011 (GRCm39) |
V48E |
possibly damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,314,174 (GRCm39) |
S1182R |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,527,805 (GRCm39) |
L386Q |
probably damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,785 (GRCm39) |
K287E |
possibly damaging |
Het |
| Pramel23 |
A |
T |
4: 143,425,874 (GRCm39) |
L23* |
probably null |
Het |
| Rad54b |
A |
G |
4: 11,612,777 (GRCm39) |
D803G |
probably damaging |
Het |
| Rbm26 |
G |
A |
14: 105,354,400 (GRCm39) |
|
probably benign |
Het |
| Rspry1 |
C |
T |
8: 95,362,059 (GRCm39) |
Q113* |
probably null |
Het |
| Siah2 |
T |
A |
3: 58,599,191 (GRCm39) |
S16C |
probably benign |
Het |
| Sirpa |
C |
A |
2: 129,472,017 (GRCm39) |
D481E |
probably damaging |
Het |
| Slc38a7 |
A |
C |
8: 96,571,548 (GRCm39) |
D227E |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,220,151 (GRCm39) |
V438A |
probably benign |
Het |
| Spast |
A |
G |
17: 74,658,957 (GRCm39) |
E108G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,394,547 (GRCm39) |
E1752G |
possibly damaging |
Het |
| Tanc2 |
T |
G |
11: 105,777,316 (GRCm39) |
|
probably null |
Het |
| Tgfbi |
T |
C |
13: 56,773,950 (GRCm39) |
I243T |
possibly damaging |
Het |
| Tlr12 |
T |
C |
4: 128,510,685 (GRCm39) |
S522G |
possibly damaging |
Het |
| Trav14-3 |
A |
G |
14: 54,000,929 (GRCm39) |
I47V |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,760,906 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ttl |
G |
A |
2: 128,910,835 (GRCm39) |
R73H |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,317,491 (GRCm39) |
T850I |
possibly damaging |
Het |
| Vdac3 |
T |
C |
8: 23,070,491 (GRCm39) |
Y140C |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,843,659 (GRCm39) |
R62G |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,577,331 (GRCm39) |
Y461N |
probably damaging |
Het |
| Wt1 |
T |
A |
2: 105,002,612 (GRCm39) |
F493I |
probably damaging |
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 |
|
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 |
|
R7230:Grik5
|
UTSW |
7 |
24,722,495 (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'- GTTCTCCAACCATGCCTGT -3'
(R):5'- TCTAAAGGAGTATGTGCACCCG -3'
Sequencing Primer
(F):5'- TGTCCAGGAACCGTTGGG -3'
(R):5'- CTCAGCAGTTCAGAGCATTGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation