Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02475:Grik3'

294916

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: 0.193) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125650517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 344 (T344A)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably benign
Transcript: ENSMUST00000030676
AA Change: T344A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: T344A

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
1700001J03Rik	A	T	5: 146,182,533		probably benign	Het
5730409E04Rik	A	G	4: 126,611,949	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849	I27N	probably damaging	Het
Akap6	A	T	12: 53,139,494	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,996,893	V31A	possibly damaging	Het
Cep350	G	A	1: 155,862,595	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,257,991		probably null	Het
Crcp	T	C	5: 130,059,858		probably benign	Het
Creb5	G	A	6: 53,693,924	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,150	D38G	probably benign	Het
Fam171a1	A	G	2: 3,223,490	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,857,735	V396A	possibly damaging	Het
Gm10340	G	A	14: 3,140,482		probably benign	Het
Gm20390	A	G	11: 93,955,574	V16A	probably damaging	Het
Itga7	T	C	10: 128,934,089	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936		probably benign	Het
Neb	G	T	2: 52,292,819	N1038K	probably damaging	Het
Nf1	T	C	11: 79,535,667	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,479,150	T632K	possibly damaging	Het
Nts	A	G	10: 102,490,247		probably benign	Het
Olfml2b	A	G	1: 170,682,174	D697G	probably damaging	Het
Olfr1031	T	C	2: 85,992,032	F72L	probably benign	Het
Olfr1502	T	A	19: 13,862,299	C169S	probably damaging	Het
Olfr205	A	T	16: 59,328,725	H261Q	probably benign	Het
Otof	T	C	5: 30,376,682	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Rnaseh2b	T	A	14: 62,346,615	F37I	probably damaging	Het
Rtn4	T	A	11: 29,733,801	I1031N	probably damaging	Het
Rxfp2	A	G	5: 150,063,686	E344G	probably benign	Het
Scel	A	G	14: 103,537,008	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,482,996	E39G	probably benign	Het
Slc6a12	T	A	6: 121,354,375		probably null	Het
Snapc3	C	A	4: 83,450,096	H277N	probably benign	Het
Susd2	A	G	10: 75,637,499		probably null	Het
Tagap1	T	C	17: 6,956,427	Q290R	probably benign	Het
Tenm3	A	T	8: 48,279,198		probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,377	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,050,502	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,499,874	V17M	probably benign	Het
Trip11	T	A	12: 101,895,683	T208S	probably benign	Het
Ttc17	C	A	2: 94,364,376	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,587,101	W222R	probably damaging	Het
Xkr8	A	T	4: 132,728,201	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,473,025	G354C	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	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
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