Mutagenetix > Incidental Mutations

Incidental Mutation 'R1559:Grik3'

170483

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

039598-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R1559 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125707997 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 889 (D889G)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030676
AA Change: D889G

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: D889G

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

0.058

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

95% (73/77)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,399,180	W3585R	probably null	Het
Babam1	G	C	8: 71,397,780	E18Q	probably damaging	Het
Bcan	G	T	3: 87,994,212	S394R	probably damaging	Het
Birc6	T	A	17: 74,692,237	F4653L	probably damaging	Het
Camsap2	A	T	1: 136,282,094	H559Q	probably benign	Het
Cars2	G	T	8: 11,530,430		probably null	Het
Ccdc93	T	A	1: 121,461,983		probably benign	Het
Ccna2	C	A	3: 36,570,730		probably benign	Het
Cdc6	T	A	11: 98,912,211	L326I	probably damaging	Het
Cdh23	A	T	10: 60,419,699		probably benign	Het
Cenpe	T	A	3: 135,270,900	S2423T	probably benign	Het
Cftr	A	G	6: 18,225,937	M295V	probably benign	Het
Cxcl2	A	G	5: 90,904,012	H23R	probably benign	Het
Cyp4a12b	A	G	4: 115,433,984	T370A	probably damaging	Het
Daam2	A	G	17: 49,496,120		probably benign	Het
Dclk3	T	C	9: 111,469,208	F607L	probably damaging	Het
Des	T	G	1: 75,360,586	S57A	probably benign	Het
Drd1	A	T	13: 54,052,945	S410T	probably damaging	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Fanci	T	C	7: 79,433,193	L639P	probably damaging	Het
Fancm	A	G	12: 65,093,689	E395G	probably benign	Het
Gm996	G	T	2: 25,577,031	S956*	probably null	Het
Heyl	A	G	4: 123,241,399	S62G	probably damaging	Het
Hmox1	C	T	8: 75,099,949	P267L	probably damaging	Het
Ifi213	A	C	1: 173,567,218	S584A	probably benign	Het
Il12rb2	G	T	6: 67,356,592	F234L	probably benign	Het
Il4i1	T	A	7: 44,839,387	S233T	probably damaging	Het
Itga4	A	G	2: 79,315,688	S745G	probably benign	Het
Kalrn	T	A	16: 34,010,548	I734F	possibly damaging	Het
Klk1b16	T	C	7: 44,141,001	I200T	probably benign	Het
Lrrc4c	T	A	2: 97,630,772	M581K	probably benign	Het
M6pr	A	T	6: 122,315,074	I122L	probably benign	Het
Magi3	T	C	3: 104,046,853		probably benign	Het
Mybpc2	T	G	7: 44,513,687	T480P	probably benign	Het
Olfr301	T	C	7: 86,412,367	S43P	probably benign	Het
Olfr346	A	G	2: 36,688,758	Y252C	probably damaging	Het
Olfr613	A	T	7: 103,552,165	I127F	possibly damaging	Het
Olfr937	T	C	9: 39,060,141	N175S	probably benign	Het
Pcx	T	A	19: 4,619,086	I704N	probably damaging	Het
Pde3a	G	T	6: 141,459,098	A350S	probably damaging	Het
Ppox	A	T	1: 171,280,006		probably benign	Het
Ppp1r32	T	C	19: 10,481,406	T87A	probably benign	Het
Prb1	T	A	6: 132,208,544	Y42F	unknown	Het
Rsph4a	T	A	10: 33,909,731	V546E	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Sh3tc1	A	G	5: 35,703,349		probably null	Het
Slc22a2	T	C	17: 12,584,411	F44S	probably damaging	Het
Slco6c1	T	A	1: 97,098,498	D334V	probably damaging	Het
Smim19	T	C	8: 22,463,336	D105G	probably damaging	Het
Smpdl3a	A	G	10: 57,807,492	T233A	probably damaging	Het
St8sia5	G	A	18: 77,211,764		probably null	Het
Stk32a	C	A	18: 43,243,084	Q73K	probably benign	Het
Tmem129	G	T	5: 33,657,756		probably null	Het
Traf3ip3	A	T	1: 193,178,291	L441Q	probably damaging	Het
Ttn	C	T	2: 76,900,961		probably benign	Het
Unc45b	T	C	11: 82,917,846	S253P	possibly damaging	Het
Vars2	A	G	17: 35,666,258		probably benign	Het
Vmn2r51	C	T	7: 10,102,445	M136I	possibly damaging	Het
Vmn2r51	A	G	7: 10,102,446	M136T	possibly damaging	Het
Zfp595	T	C	13: 67,317,063	I379V	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGAAAGATGATGCCATCTGCCCC -3'
(R):5'- GCTGGCCTTCACAGCTTCAGAAAG -3'

Sequencing Primer
(F):5'- TACAGAGGACTTTCCAGTCATC -3'
(R):5'- CCCGGTAGGTTAAGAGCTG -3'

Posted On

2014-04-13