Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02323:Grik3'

288366

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

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL02323

Quality Score

Status

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 125685990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably benign
Transcript: ENSMUST00000030676

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,291,064	E344G	probably damaging	Het
Actrt2	T	C	4: 154,666,798	T294A	probably benign	Het
Afg1l	C	A	10: 42,454,510	E54*	probably null	Het
Ahi1	T	C	10: 20,972,034	I447T	probably damaging	Het
Akap6	T	C	12: 53,140,429	I1542T	probably benign	Het
Ankrd34c	A	C	9: 89,729,980	S103A	possibly damaging	Het
Apc	C	T	18: 34,315,810	Q1886*	probably null	Het
Bcas3	A	G	11: 85,495,845	T148A	probably damaging	Het
Bud13	A	G	9: 46,283,052	T8A	probably benign	Het
Casr	A	T	16: 36,509,710	Y421N	probably damaging	Het
Cd163l1	G	T	7: 140,228,659	A828S	probably benign	Het
Clasp2	T	C	9: 113,868,726		probably benign	Het
Clca4b	T	C	3: 144,913,321	T686A	probably benign	Het
Cntln	T	A	4: 85,049,789	H748Q	probably benign	Het
D430042O09Rik	T	A	7: 125,842,829	S637T	probably benign	Het
Dmtf1	A	T	5: 9,120,056	D683E	possibly damaging	Het
Dnmt3l	A	G	10: 78,063,318	K117R	probably damaging	Het
Eif2a	T	C	3: 58,548,603	M341T	possibly damaging	Het
Epg5	T	A	18: 78,012,832	Y1740*	probably null	Het
Fam149b	C	T	14: 20,363,301	T157I	possibly damaging	Het
Fam89b	A	G	19: 5,728,871		probably null	Het
Fbxo3	T	A	2: 104,047,951	N232K	probably benign	Het
Gm5415	A	T	1: 32,545,704	L375*	probably null	Het
Gm6588	A	G	5: 112,449,734	Y49C	probably benign	Het
Gnl3	A	C	14: 31,017,402	H16Q	probably damaging	Het
Gpld1	T	G	13: 24,982,774	V669G	probably damaging	Het
Gzmg	A	C	14: 56,157,272	Y180D	probably benign	Het
H2-M9	A	T	17: 36,640,741	Y281N	probably damaging	Het
Mical1	G	A	10: 41,486,664	E932K	possibly damaging	Het
Mrs2	T	A	13: 25,004,957	I125F	probably damaging	Het
Nfam1	T	A	15: 83,022,951	N15I	probably benign	Het
Nol8	T	A	13: 49,655,245		probably benign	Het
Obscn	A	G	11: 59,008,522	V6483A	possibly damaging	Het
Olfr444	A	T	6: 42,955,983	I162F	probably benign	Het
Osbpl3	A	G	6: 50,346,326		probably null	Het
Pla2g16	G	A	19: 7,574,992	W24*	probably null	Het
Ppfibp2	A	T	7: 107,738,629	Q652H	probably damaging	Het
Rbm47	A	G	5: 66,026,429	V277A	probably damaging	Het
Robo3	G	A	9: 37,422,201	A716V	probably benign	Het
Slc29a4	A	G	5: 142,717,652	E227G	probably damaging	Het
Slf1	T	C	13: 77,051,294	D656G	possibly damaging	Het
Sox1	A	G	8: 12,396,692	H111R	possibly damaging	Het
Svep1	G	A	4: 58,070,236	Q2517*	probably null	Het
Syndig1	G	T	2: 149,899,787	V98L	probably benign	Het
Synpo2	T	C	3: 123,117,534	E154G	probably benign	Het
Tex37	A	G	6: 70,913,695		probably benign	Het
Tkt	G	A	14: 30,571,035	G490S	possibly damaging	Het
Tmem200a	T	C	10: 25,993,430	N314D	probably benign	Het
Tnfaip8l1	A	T	17: 56,172,009	T100S	probably damaging	Het
Traf7	C	A	17: 24,513,046	C193F	possibly damaging	Het
Trim12c	C	T	7: 104,348,266	A28T	probably benign	Het
Trpc7	C	A	13: 56,783,751	V595L	possibly damaging	Het
Ttc39c	A	G	18: 12,736,743	R575G	probably null	Het
Ttn	T	G	2: 76,851,575		probably benign	Het
Ttn	C	T	2: 76,723,265	V31003M	probably damaging	Het
Ugt2b37	A	T	5: 87,250,564		probably benign	Het
Uqcrb	A	T	13: 66,902,810		probably benign	Het
Usp33	T	A	3: 152,370,387	W415R	probably benign	Het
Vmn2r110	A	T	17: 20,596,137	D41E	probably damaging	Het
Vmn2r98	A	T	17: 19,065,851	I204F	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
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
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

Posted On

2015-04-16