Mutagenetix > Incidental Mutation

Incidental Mutation 'R0208:Grik3'

33461

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

038461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R0208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125686165 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 568 (Y568N)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably damaging
Transcript: ENSMUST00000030676
AA Change: Y568N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: Y568N

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

Meta Mutation Damage Score

0.9369

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.7%

Validation Efficiency

96% (67/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 104,099,661	V29A	probably benign	Het
Adgrb1	T	C	15: 74,586,807	F313L	probably benign	Het
Arfgef2	C	T	2: 166,867,422	R1140W	probably damaging	Het
Arhgef15	A	T	11: 68,946,373	N797K	probably benign	Het
Arhgef5	A	G	6: 43,273,341	E342G	probably damaging	Het
Asb2	T	A	12: 103,325,271	N466Y	possibly damaging	Het
Atp8a1	A	T	5: 67,774,721		probably null	Het
C130079G13Rik	C	T	3: 59,932,689	R61C	probably damaging	Het
Cacna1b	A	G	2: 24,607,480	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,281,000	P918R	probably damaging	Het
Cdk7	G	T	13: 100,706,514	D202E	probably benign	Het
Cenpj	G	T	14: 56,563,970	A182E	probably benign	Het
Clstn3	A	G	6: 124,432,169		probably benign	Het
Col9a2	C	T	4: 121,052,288		probably benign	Het
D630045J12Rik	A	G	6: 38,139,450	M1745T	probably damaging	Het
Dnah11	A	C	12: 118,043,774	N2156K	probably damaging	Het
Dock3	G	T	9: 106,996,996	Y425*	probably null	Het
Eng	A	T	2: 32,678,993	T511S	probably benign	Het
Gcfc2	A	T	6: 81,943,463	S410C	probably null	Het
Gsr	T	A	8: 33,689,355	D330E	possibly damaging	Het
H2-M10.4	A	G	17: 36,460,483	W268R	probably damaging	Het
Hepacam2	A	T	6: 3,467,505		probably benign	Het
Hrct1	C	A	4: 43,727,384	T8K	possibly damaging	Het
Idua	T	A	5: 108,681,752	F447I	probably damaging	Het
Il2ra	T	C	2: 11,682,017		probably benign	Het
Ipcef1	A	G	10: 6,920,062	S113P	probably damaging	Het
Klk1b9	T	A	7: 43,979,430	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,597,837	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,404,866	F1334L	possibly damaging	Het
Med1	A	G	11: 98,155,689		probably benign	Het
Med13	A	G	11: 86,300,856		probably benign	Het
Mtor	C	A	4: 148,464,975	H605Q	probably benign	Het
Muc19	A	G	15: 91,893,024		noncoding transcript	Het
Mybphl	T	C	3: 108,375,415	V207A	probably damaging	Het
Nptxr	A	T	15: 79,789,715	C366S	probably null	Het
Olfr1099	G	T	2: 86,959,404	T18K	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr498	A	G	7: 108,465,543	D73G	probably damaging	Het
Pcdhb18	T	C	18: 37,490,187	I190T	possibly damaging	Het
Pde3b	A	G	7: 114,497,981	T428A	probably benign	Het
Pgbd1	A	C	13: 21,434,481	L2R	probably damaging	Het
Pkp4	A	G	2: 59,266,436	I61V	probably damaging	Het
Pold4	T	G	19: 4,232,539	Y58*	probably null	Het
Polr1d	A	C	5: 147,078,680		probably null	Het
Prex2	T	A	1: 11,285,144	D1556E	probably damaging	Het
Psmd1	T	C	1: 86,133,741	V891A	possibly damaging	Het
Rasip1	C	A	7: 45,632,575	P501T	probably damaging	Het
Scgb2b27	C	A	7: 34,012,137	E96*	probably null	Het
Sec16b	G	T	1: 157,552,935	G359*	probably null	Het
Secisbp2	A	G	13: 51,679,845	T674A	probably benign	Het
Serpinb6c	G	A	13: 33,897,396	S90L	probably benign	Het
Sgsm2	A	G	11: 74,868,241	I170T	probably damaging	Het
Slc28a1	A	T	7: 81,117,706		probably benign	Het
Slc35d1	T	C	4: 103,208,154	T177A	probably damaging	Het
Spg11	C	T	2: 122,055,696		probably null	Het
Spint1	T	C	2: 119,248,345		probably benign	Het
Spta1	A	G	1: 174,192,960	H545R	probably damaging	Het
Tada3	A	T	6: 113,367,007	L227Q	probably damaging	Het
Tln1	C	T	4: 43,549,151	V644M	probably damaging	Het
Unc79	G	A	12: 103,092,027	V1016I	probably benign	Het
Usf3	C	A	16: 44,216,906	A583E	probably damaging	Het
Ush2a	A	C	1: 188,531,761	I1612L	probably damaging	Het
Vmn2r6	T	C	3: 64,539,912	T578A	probably benign	Het
Zmat4	T	A	8: 23,902,067	M13K	probably damaging	Het

Other mutations in Grik3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Grik3	APN	4	125632415	missense	probably benign
IGL01534:Grik3	APN	4	125686190	missense	probably damaging	1.00
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
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
R7952:Grik3	UTSW	4	125704547	missense	probably damaging	1.00
R8418:Grik3	UTSW	4	125686042	missense	possibly damaging	0.95
R8769:Grik3	UTSW	4	125656373	missense	probably damaging	1.00
R9030:Grik3	UTSW	4	125632392	missense	probably benign	0.24
R9243:Grik3	UTSW	4	125707897	missense	probably benign	0.00
R9792:Grik3	UTSW	4	125632522	missense	probably damaging	0.97
R9793:Grik3	UTSW	4	125632522	missense	probably damaging	0.97
Z1177:Grik3	UTSW	4	125650506	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CCATGAGTGGGTTCTCCAACACATC -3'
(R):5'- AGTGTCACTGGCATGGACCAGAAG -3'

Sequencing Primer
(F):5'- GTCTATGGTCTCTTTACAGAAAGCAG -3'
(R):5'- ACAAAGGATCTGTGCTGCG -3'

Posted On

2013-05-09