Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01534:Grik3'

89867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

IGL01534

Quality Score

Status

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125686190 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 576 (V576A)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030676]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030676
AA Change: V576A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: V576A

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	55	398	7.8e-72	PFAM
PBPe	435	802	4.38e-133	SMART
Lig_chan-Glu_bd	445	509	5.77e-34	SMART
transmembrane domain	823	845	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. Transcript variants encoding different isoforms have been described for this gene, however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significantly reduced short- and long-term synaptic potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,368,081	L111P	possibly damaging	Het
Adck5	C	A	15: 76,594,726	H383Q	probably damaging	Het
Asns	T	A	6: 7,675,397	H535L	probably benign	Het
Atf5	A	G	7: 44,813,038	S221P	probably damaging	Het
Atr	T	C	9: 95,865,546	Y294H	probably damaging	Het
B230307C23Rik	A	G	16: 98,008,761		probably benign	Het
C1qtnf6	C	T	15: 78,525,216	E144K	probably benign	Het
Casp8ap2	C	T	4: 32,648,134		probably benign	Het
Cd48	C	A	1: 171,695,739	P50Q	possibly damaging	Het
Cnnm4	T	C	1: 36,499,515	Y593H	probably benign	Het
Col27a1	G	A	4: 63,225,782	R569Q	probably benign	Het
Cubn	A	T	2: 13,465,933	C549*	probably null	Het
Dsg1a	T	A	18: 20,340,996	M1042K	probably benign	Het
Dzip1	T	A	14: 118,877,239	T835S	probably damaging	Het
Eif3c	T	C	7: 126,557,695	T389A	probably benign	Het
Erlin2	G	T	8: 27,031,957	E177*	probably null	Het
Fam172a	T	A	13: 77,999,711		probably benign	Het
Gabrb1	T	A	5: 71,869,429	S91T	possibly damaging	Het
Gtpbp2	T	A	17: 46,163,504	Y70N	probably damaging	Het
Idh3a	T	A	9: 54,601,222		probably benign	Het
Ift74	G	A	4: 94,679,944	R406H	probably benign	Het
Kcna7	C	A	7: 45,406,511	N50K	probably damaging	Het
Kcnd2	T	C	6: 21,726,145	S546P	probably benign	Het
Lrp4	G	A	2: 91,473,641	D134N	probably damaging	Het
Mcm2	A	G	6: 88,887,718		probably null	Het
Nlrp12	T	C	7: 3,239,833	Y683C	probably benign	Het
Olfr1104	A	G	2: 87,021,884	I220T	probably damaging	Het
Olfr114	A	T	17: 37,590,072	Y94N	possibly damaging	Het
Olfr1499	T	A	19: 13,815,302	H96L	probably benign	Het
Olfr1502	A	T	19: 13,861,919	N42I	probably damaging	Het
Olfr710	T	A	7: 106,944,339	I221F	probably damaging	Het
P2rx7	A	C	5: 122,676,698	I409L	probably damaging	Het
Pde10a	A	G	17: 8,944,970	N191S	probably damaging	Het
Rabggtb	A	G	3: 153,910,259		probably null	Het
Rgs4	A	T	1: 169,744,516	C71*	probably null	Het
Rnase10	T	C	14: 51,007,979	F5L	probably benign	Het
Scn11a	T	A	9: 119,780,822	T987S	probably benign	Het
Shox2	A	C	3: 66,978,363	D126E	probably benign	Het
Slc12a1	A	G	2: 125,217,910	D910G	probably damaging	Het
Slc15a1	C	T	14: 121,464,952	C594Y	possibly damaging	Het
Spock2	C	T	10: 60,127,061		probably benign	Het
Togaram1	G	T	12: 64,966,547	D191Y	probably damaging	Het
Triml2	T	C	8: 43,187,623	V172A	probably benign	Het
Tubb3	C	T	8: 123,420,966	R213C	probably benign	Het
Vmn2r4	A	T	3: 64,406,423	V379E	probably damaging	Het
Zfp446	C	T	7: 12,979,566	P153L	probably damaging	Het
Zfp608	A	T	18: 54,898,932	N645K	probably damaging	Het

Other mutations in Grik3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Grik3	APN	4	125632415	missense	probably benign
IGL01538:Grik3	APN	4	125694036	missense	possibly damaging	0.90
IGL02276:Grik3	APN	4	125623502	missense	possibly damaging	0.86
IGL02323:Grik3	APN	4	125685990	splice site	probably benign
IGL02475:Grik3	APN	4	125650517	missense	probably benign
IGL03198:Grik3	APN	4	125659762	missense	probably benign	0.25
IGL03307:Grik3	APN	4	125641554	missense	possibly damaging	0.91
R0054:Grik3	UTSW	4	125623575	missense	probably damaging	1.00
R0054:Grik3	UTSW	4	125623575	missense	probably damaging	1.00
R0116:Grik3	UTSW	4	125670556	missense	probably benign	0.01
R0208:Grik3	UTSW	4	125686165	missense	probably damaging	1.00
R0497:Grik3	UTSW	4	125623510	missense	possibly damaging	0.82
R1295:Grik3	UTSW	4	125704564	splice site	probably benign
R1296:Grik3	UTSW	4	125704564	splice site	probably benign
R1515:Grik3	UTSW	4	125670728	missense	probably benign	0.37
R1559:Grik3	UTSW	4	125707997	missense	probably benign	0.16
R1617:Grik3	UTSW	4	125691192	missense	probably benign
R1848:Grik3	UTSW	4	125694138	missense	probably damaging	1.00
R2903:Grik3	UTSW	4	125670644	missense	probably damaging	1.00
R3440:Grik3	UTSW	4	125693970	missense	probably damaging	1.00
R3440:Grik3	UTSW	4	125693971	missense	probably damaging	1.00
R3442:Grik3	UTSW	4	125693970	missense	probably damaging	1.00
R3442:Grik3	UTSW	4	125693971	missense	probably damaging	1.00
R3842:Grik3	UTSW	4	125693954	splice site	probably benign
R4649:Grik3	UTSW	4	125650485	missense	probably damaging	1.00
R4841:Grik3	UTSW	4	125691176	missense	probably damaging	1.00
R4842:Grik3	UTSW	4	125691176	missense	probably damaging	1.00
R5093:Grik3	UTSW	4	125670589	missense	probably benign
R5318:Grik3	UTSW	4	125694136	missense	probably damaging	0.96
R5549:Grik3	UTSW	4	125686045	missense	possibly damaging	0.95
R6221:Grik3	UTSW	4	125705123	missense	probably damaging	0.99
R6226:Grik3	UTSW	4	125659789	missense	probably benign	0.04
R6306:Grik3	UTSW	4	125632412	missense	probably benign	0.01
R6672:Grik3	UTSW	4	125623516	missense	probably benign	0.08
R6682:Grik3	UTSW	4	125650466	missense	probably damaging	1.00
R6783:Grik3	UTSW	4	125632300	missense	probably benign	0.01
R7390:Grik3	UTSW	4	125649739	missense	probably damaging	1.00
R7604:Grik3	UTSW	4	125623635	missense	probably damaging	0.97
R7790:Grik3	UTSW	4	125686019	missense	probably damaging	1.00
R7822:Grik3	UTSW	4	125656397	critical splice donor site	probably null
Z1177:Grik3	UTSW	4	125650506	missense	possibly damaging	0.92

Posted On

2013-12-03