Mutagenetix > Incidental Mutation

Incidental Mutation 'R3842:Grik3'

277198

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

040782-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R3842 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 125693954 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (37/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	C	T	14: 8,251,543	R318H	probably damaging	Het
Adamts16	T	C	13: 70,738,891	Y958C	possibly damaging	Het
Apol7e	A	G	15: 77,717,589	E129G	probably damaging	Het
Bmp2k	A	G	5: 97,087,151		probably benign	Het
Camk2g	T	C	14: 20,764,898	H26R	probably damaging	Het
Cpn2	A	G	16: 30,260,518	S122P	probably damaging	Het
Dhcr24	G	T	4: 106,585,805	G346C	probably damaging	Het
Egf	G	A	3: 129,697,793	R351*	probably null	Het
Exosc10	T	A	4: 148,563,865	Y260*	probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam83h	C	T	15: 76,002,650	R946K	probably benign	Het
Fbxo30	A	G	10: 11,290,112	S193G	probably damaging	Het
Gtf3c6	A	T	10: 40,254,321		probably null	Het
Hivep1	T	C	13: 42,157,727	S1148P	probably benign	Het
Hmgb2	T	A	8: 57,513,354	S121T	probably benign	Het
Hyal2	T	C	9: 107,572,121	S359P	probably damaging	Het
Itgbl1	A	G	14: 123,840,565	T156A	possibly damaging	Het
Lrrk2	C	A	15: 91,755,916	Q1555K	probably benign	Het
Myom1	T	C	17: 71,045,624	V349A	probably damaging	Het
Naa40	A	T	19: 7,229,809		probably benign	Het
Ncam2	A	G	16: 81,434,810	Y54C	probably damaging	Het
Nemf	C	T	12: 69,331,949	S533N	probably damaging	Het
Nkain1	T	A	4: 130,537,296	I80F	probably damaging	Het
Olfr1335	A	G	4: 118,809,255	V203A	probably damaging	Het
Olfr695	G	A	7: 106,874,095	T50I	probably benign	Het
Olfr825	G	A	10: 130,162,901	R142C	probably benign	Het
Pde3b	T	C	7: 114,526,867	S779P	probably damaging	Het
Prkar2a	A	G	9: 108,728,268	Y175C	probably damaging	Het
Slc44a5	T	C	3: 154,261,394		probably benign	Het
Smgc	T	A	15: 91,860,262		probably benign	Het
Tasp1	T	A	2: 139,951,501	S252C	probably damaging	Het
Tgfbrap1	A	T	1: 43,059,154	Y489N	probably damaging	Het
Topors	C	T	4: 40,262,123	R387H	probably benign	Het
Ttn	A	G	2: 76,789,619	S15902P	probably damaging	Het
Ttn	T	C	2: 76,850,303		probably null	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
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
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'- AAAGCTGAATACGCACGGC -3'
(R):5'- ACAGCACCGTACTCTATTTTGG -3'

Sequencing Primer
(F):5'- GTCTTGAGGTAGATCCAAGAATTTGC -3'
(R):5'- GTCTGCTTGGCCAGGTCATC -3'

Posted On

2015-04-06