Incidental Mutation 'R5186:Grik5'
ID |
397884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik5
|
Ensembl Gene |
ENSMUSG00000003378 |
Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
Synonyms |
KA2, GluRgamma2 |
MMRRC Submission |
042765-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R5186 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24715244 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 676
(T676A)
|
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: T676A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000003468 Gene: ENSMUSG00000003378 AA Change: T676A
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
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. 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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,982,425 (GRCm39) |
I6V |
probably null |
Het |
Aox1 |
A |
G |
1: 58,107,529 (GRCm39) |
D601G |
probably damaging |
Het |
Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
Cacna1g |
T |
G |
11: 94,333,674 (GRCm39) |
N931T |
probably damaging |
Het |
Ccdc14 |
T |
C |
16: 34,541,955 (GRCm39) |
F511L |
probably damaging |
Het |
Cd177 |
T |
A |
7: 24,444,348 (GRCm39) |
E710V |
probably benign |
Het |
Cep112 |
T |
C |
11: 108,643,386 (GRCm39) |
C49R |
probably benign |
Het |
Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
Dnah2 |
T |
C |
11: 69,326,710 (GRCm39) |
N3575S |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,044,410 (GRCm39) |
I3234F |
probably damaging |
Het |
Eci3 |
G |
T |
13: 35,130,961 (GRCm39) |
A302E |
possibly damaging |
Het |
Fam204a |
T |
C |
19: 60,188,421 (GRCm39) |
K214E |
probably damaging |
Het |
Fam78a |
T |
C |
2: 31,972,666 (GRCm39) |
T85A |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,909,748 (GRCm38) |
Y1401H |
probably damaging |
Het |
Foxl2 |
A |
T |
9: 98,838,108 (GRCm39) |
D132V |
probably damaging |
Het |
Frs2 |
C |
A |
10: 116,914,747 (GRCm39) |
W57C |
probably damaging |
Het |
Gm26558 |
G |
T |
2: 70,491,761 (GRCm39) |
|
probably benign |
Het |
Gpr139 |
A |
G |
7: 118,744,063 (GRCm39) |
V174A |
probably benign |
Het |
H60c |
T |
C |
10: 3,209,273 (GRCm39) |
|
probably null |
Het |
Hspa1l |
A |
G |
17: 35,197,445 (GRCm39) |
K495E |
probably damaging |
Het |
Irgm1 |
C |
T |
11: 48,757,044 (GRCm39) |
V256I |
probably benign |
Het |
Kat7 |
T |
A |
11: 95,177,242 (GRCm39) |
T293S |
probably benign |
Het |
Lipg |
C |
T |
18: 75,094,009 (GRCm39) |
V13I |
probably benign |
Het |
Lrrn1 |
A |
T |
6: 107,546,185 (GRCm39) |
Y661F |
probably damaging |
Het |
Mllt3 |
A |
G |
4: 87,759,232 (GRCm39) |
V272A |
probably benign |
Het |
Mx1 |
G |
A |
16: 97,256,694 (GRCm39) |
R162C |
probably benign |
Het |
Myo18b |
T |
A |
5: 113,019,336 (GRCm39) |
D647V |
probably damaging |
Het |
Naf1 |
G |
A |
8: 67,332,298 (GRCm39) |
V329I |
probably benign |
Het |
Or4k40 |
A |
T |
2: 111,251,119 (GRCm39) |
M59K |
probably damaging |
Het |
Or52u1 |
A |
T |
7: 104,237,418 (GRCm39) |
I153F |
probably damaging |
Het |
Or8g22 |
A |
T |
9: 38,958,265 (GRCm39) |
C194* |
probably null |
Het |
P2rx5 |
G |
A |
11: 73,062,616 (GRCm39) |
V442M |
possibly damaging |
Het |
Pcdhb9 |
A |
G |
18: 37,534,285 (GRCm39) |
E93G |
probably damaging |
Het |
Pcdhga4 |
A |
T |
18: 37,820,479 (GRCm39) |
N676I |
probably benign |
Het |
Pgm5 |
A |
G |
19: 24,797,492 (GRCm39) |
M230T |
probably damaging |
Het |
Pik3c2g |
T |
C |
6: 139,599,016 (GRCm39) |
V44A |
probably damaging |
Het |
Pp2d1 |
T |
C |
17: 53,815,168 (GRCm39) |
M519V |
probably benign |
Het |
Ppp1r10 |
A |
G |
17: 36,239,403 (GRCm39) |
E404G |
probably damaging |
Het |
Prpf8 |
A |
T |
11: 75,380,609 (GRCm39) |
E104V |
possibly damaging |
Het |
Ptpra |
T |
C |
2: 30,328,367 (GRCm39) |
|
probably null |
Het |
Pygl |
A |
C |
12: 70,248,118 (GRCm39) |
N248K |
probably damaging |
Het |
Rbm8a |
A |
G |
3: 96,538,248 (GRCm39) |
D102G |
probably damaging |
Het |
Sema3d |
A |
G |
5: 12,634,875 (GRCm39) |
D647G |
probably benign |
Het |
Serpinb11 |
A |
T |
1: 107,307,484 (GRCm39) |
D305V |
probably damaging |
Het |
Slc12a8 |
T |
C |
16: 33,437,578 (GRCm39) |
I337T |
probably damaging |
Het |
Slc29a2 |
G |
A |
19: 5,078,995 (GRCm39) |
R286Q |
probably benign |
Het |
Slc2a3 |
T |
A |
6: 122,712,542 (GRCm39) |
D234V |
probably damaging |
Het |
Slco4a1 |
T |
C |
2: 180,114,901 (GRCm39) |
V608A |
probably damaging |
Het |
Spata31d1e |
A |
T |
13: 59,891,553 (GRCm39) |
L89H |
probably damaging |
Het |
Srrm2 |
C |
T |
17: 24,035,561 (GRCm39) |
T831I |
probably benign |
Het |
St18 |
T |
A |
1: 6,872,541 (GRCm39) |
|
probably null |
Het |
Tesk2 |
G |
C |
4: 116,599,093 (GRCm39) |
G67A |
probably damaging |
Het |
Tlr1 |
A |
T |
5: 65,082,564 (GRCm39) |
L671H |
probably damaging |
Het |
Tmem63b |
A |
T |
17: 45,972,403 (GRCm39) |
Y735N |
possibly damaging |
Het |
Tmprss11a |
C |
T |
5: 86,567,938 (GRCm39) |
C263Y |
probably damaging |
Het |
Trio |
A |
T |
15: 27,898,077 (GRCm39) |
V345E |
probably damaging |
Het |
Tut7 |
A |
G |
13: 59,964,470 (GRCm39) |
|
probably null |
Het |
Ubr5 |
A |
G |
15: 37,998,160 (GRCm39) |
S1674P |
probably damaging |
Het |
Uchl3 |
T |
A |
14: 101,933,353 (GRCm39) |
C209S |
probably damaging |
Het |
Uhmk1 |
T |
C |
1: 170,038,736 (GRCm39) |
N206S |
probably damaging |
Het |
Uhrf1 |
C |
T |
17: 56,625,340 (GRCm39) |
R588W |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,921,550 (GRCm39) |
V256A |
probably damaging |
Het |
Utrn |
C |
A |
10: 12,604,521 (GRCm39) |
L552F |
probably damaging |
Het |
Vmn1r55 |
A |
T |
7: 5,149,985 (GRCm39) |
M146K |
probably damaging |
Het |
Vmn1r57 |
A |
C |
7: 5,224,107 (GRCm39) |
I211L |
probably benign |
Het |
Zar1 |
C |
T |
5: 72,734,742 (GRCm39) |
C316Y |
probably damaging |
Het |
Zc3h11a |
A |
T |
1: 133,549,412 (GRCm39) |
S750T |
probably damaging |
Het |
Zfp366 |
G |
A |
13: 99,382,676 (GRCm39) |
C613Y |
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,493 (GRCm39) |
C524S |
probably damaging |
Het |
Zfp516 |
T |
C |
18: 82,975,218 (GRCm39) |
V472A |
probably benign |
Het |
Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
probably damaging |
Het |
Zic1 |
T |
C |
9: 91,246,424 (GRCm39) |
Y216C |
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 |
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 |
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'- CCTGATGACAACTCAATACTTCGC -3'
(R):5'- TCGGCAAGAGGCTCATACTTC -3'
Sequencing Primer
(F):5'- GATGACAACTCAATACTTCGCCCAAC -3'
(R):5'- GAGGCTCATACTTCCCACCC -3'
|
Posted On |
2016-07-06 |