Mutagenetix > Incidental Mutation

Incidental Mutation 'R7822:Grik3'

601922

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R7822 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 125656397 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 null
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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,880,713	S551L	possibly damaging	Het
Arhgap8	A	C	15: 84,765,732	Y219S	probably damaging	Het
Ash1l	T	C	3: 89,007,264	S1734P	probably benign	Het
Btnl2	T	A	17: 34,363,314	S285T	possibly damaging	Het
Cadm4	A	G	7: 24,503,545	D364G	possibly damaging	Het
Card6	T	A	15: 5,098,865	K1016N	possibly damaging	Het
Ccdc130	T	C	8: 84,261,782	E72G	probably damaging	Het
Cdh2	G	T	18: 16,624,284	N692K	probably benign	Het
Cep76	G	T	18: 67,641,149	S9*	probably null	Het
Cklf	T	C	8: 104,251,097		probably null	Het
Ctsa	T	C	2: 164,839,232	*475R	probably null	Het
Dapk1	A	C	13: 60,725,901	D406A	probably benign	Het
Ddx4	A	T	13: 112,612,113	V443D	probably damaging	Het
Dph5	C	T	3: 115,899,750	Q106*	probably null	Het
Drg2	C	T	11: 60,462,200	R220*	probably null	Het
Efcab8	A	T	2: 153,810,912	Q509L	unknown	Het
Efs	C	T	14: 54,917,450	S444N	probably benign	Het
Evl	T	C	12: 108,648,464	V58A	probably damaging	Het
Fam71b	A	G	11: 46,404,903	N34S		Het
Gbe1	G	A	16: 70,433,612	R166H	probably damaging	Het
Gcc1	T	C	6: 28,418,786	E516G	probably damaging	Het
Ghr	T	C	15: 3,457,957	T15A	probably benign	Het
Gnb4	G	A	3: 32,596,331	T50M	probably damaging	Het
Gstk1	T	C	6: 42,247,752	Y135H	probably benign	Het
Gucy2c	T	A	6: 136,708,406	I846F	probably damaging	Het
Itga7	A	G	10: 128,942,966	T321A	probably benign	Het
Jakmip1	A	T	5: 37,175,180	N1068I	probably damaging	Het
Krt36	A	G	11: 100,104,140	I202T	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Mast2	A	G	4: 116,312,873	L741P	probably damaging	Het
Mctp2	T	C	7: 72,127,187	N720S	possibly damaging	Het
Mmp9	A	T	2: 164,949,036	K115*	probably null	Het
Mtf2	C	T	5: 108,080,877	R20*	probably null	Het
Mycbp2	T	G	14: 103,139,415	Q3810P	probably benign	Het
Myom2	A	T	8: 15,108,454	H802L	probably benign	Het
Naa25	A	G	5: 121,407,213	N27D	probably damaging	Het
Necab2	T	C	8: 119,454,364	F126L	probably damaging	Het
Nisch	C	G	14: 31,174,651		probably benign	Het
Nsd2	T	A	5: 33,843,594	S152T	probably damaging	Het
Ntsr1	T	C	2: 180,538,690	L263P	probably damaging	Het
Nup210	A	G	6: 91,018,777	V922A	possibly damaging	Het
Olfr109	T	A	17: 37,467,103	M299K	probably benign	Het
Olfr1175-ps	A	C	2: 88,323,081	I208S	probably benign	Het
Olfr1458	T	A	19: 13,103,053	I84F	probably benign	Het
Pccb	C	A	9: 101,027,084	C144F	probably damaging	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Prdm1	A	G	10: 44,458,482	V16A	probably benign	Het
Psme4	A	G	11: 30,874,245	D1743G	probably benign	Het
Rad21l	G	T	2: 151,655,125	D356E	probably benign	Het
Rars	A	G	11: 35,819,966	I322T	probably damaging	Het
Retreg2	C	A	1: 75,146,541	P319Q	possibly damaging	Het
Robo2	T	C	16: 73,973,171	Y559C	probably damaging	Het
Ror1	T	C	4: 100,441,367	Y646H	probably damaging	Het
Rrp15	A	G	1: 186,749,176	S45P	probably benign	Het
Sacs	G	C	14: 61,192,203	K570N	probably benign	Het
Serpinb8	C	T	1: 107,606,993	Q265*	probably null	Het
Sgo2b	T	C	8: 63,927,284	E838G	probably damaging	Het
Slc2a12	G	A	10: 22,664,669	R141K	probably damaging	Het
Strc	G	T	2: 121,377,738	T384N	probably benign	Het
Tcaf2	T	C	6: 42,629,099	S547G	possibly damaging	Het
Tekt5	T	C	16: 10,382,928	N243S	possibly damaging	Het
Tgm3	A	G	2: 130,041,899	I492M	probably benign	Het
Tgm7	G	A	2: 121,103,940	T157I	probably benign	Het
Trnp1	C	A	4: 133,498,039	R140L	possibly damaging	Het
Ttn	A	G	2: 76,779,433	V15797A	probably damaging	Het
Ugp2	A	T	11: 21,333,762	S102T	probably benign	Het
Vav2	A	T	2: 27,282,287		probably null	Het
Vmn1r202	T	A	13: 22,502,071	I59F	probably damaging	Het
Zfp109	T	C	7: 24,229,145	T288A	probably benign	Het
Zscan12	T	A	13: 21,369,204	H399Q	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
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
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'- TATGGAAATCGCTGGCTCGC -3'
(R):5'- TGTAACAGGACCCCACAGTC -3'

Sequencing Primer
(F):5'- AATCATGGTCTTGGGGGAACAGTATC -3'
(R):5'- AGGACCCCACAGTCTCCTCTG -3'

Posted On

2019-12-03