Mutagenetix > Incidental Mutations

Incidental Mutation 'R8418:Grik3'

653030

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: 0.148) question?

Stock #

R8418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125686042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 527 (K527E)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030676
AA Change: K527E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: K527E

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: 99.6%
20x: 98.6%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	C	17: 42,710,586	H449R	probably benign	Het
Arfgef2	T	C	2: 166,856,548	V646A	probably benign	Het
BC005561	C	A	5: 104,519,858	Q749K	possibly damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Ccdc155	A	G	7: 45,194,077	L241P	probably damaging	Het
Ccdc62	C	T	5: 123,946,392	R279*	probably null	Het
Col6a5	G	T	9: 105,878,622	P2201Q	probably damaging	Het
Cpa3	T	C	3: 20,222,151	Y306C	probably damaging	Het
Cpne9	A	G	6: 113,283,437	N82D	possibly damaging	Het
Dcaf17	T	A	2: 71,088,373	D430E	probably damaging	Het
Dcst2	T	C	3: 89,371,594	V546A	probably benign	Het
Dennd1a	T	C	2: 37,858,391	T359A	probably benign	Het
Dgkb	C	A	12: 38,330,017	H591N	probably damaging	Het
Dnah17	G	A	11: 118,103,458	S1047F	probably benign	Het
Dock2	A	G	11: 34,718,968	I215T	probably benign	Het
Efcab12	A	G	6: 115,822,115		probably null	Het
Erich3	C	T	3: 154,709,741	R165C		Het
Fam166b	A	G	4: 43,427,204	L76P	unknown	Het
Gabrr1	C	T	4: 33,162,615	R394*	probably null	Het
Garnl3	G	T	2: 33,052,146	Q153K	possibly damaging	Het
Gars	A	G	6: 55,065,461	N393S	probably damaging	Het
Gbp2b	A	T	3: 142,603,705	E192D	probably benign	Het
Gm28360	A	T	1: 117,853,627	H116L	probably benign	Het
Gm9602	T	A	14: 4,779,201		probably benign	Het
Gp1bb	T	A	16: 18,621,353	H5L	unknown	Het
Hhip	T	C	8: 80,045,085	M199V	probably damaging	Het
Irgm1	A	G	11: 48,866,339	V231A	probably damaging	Het
Itgal	A	T	7: 127,330,282	I1124F	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Miga1	T	G	3: 152,285,317	Y433S	probably damaging	Het
Muc16	A	T	9: 18,519,630	I8062K	possibly damaging	Het
Ntsr2	T	G	12: 16,656,661	V230G	possibly damaging	Het
Olfr597	A	G	7: 103,321,071	Y220C		Het
Ptpn2	G	A	18: 67,681,522	T139M	probably damaging	Het
Pum2	T	A	12: 8,710,245	D145E	possibly damaging	Het
Radil	T	C	5: 142,494,921	E593G	probably benign	Het
Rdh14	T	C	12: 10,394,580	F144L	probably damaging	Het
Sec23ip	T	G	7: 128,778,463	D867E	probably damaging	Het
Serpina6	T	C	12: 103,646,928	Y371C	probably damaging	Het
Snx13	T	A	12: 35,098,234	I254N	probably damaging	Het
Tacc1	T	C	8: 25,241,516	K7E	probably damaging	Het
Timeless	A	C	10: 128,250,736	N1048T	probably benign	Het
Tll2	C	A	19: 41,092,837	E732D	probably damaging	Het
Tmem171	A	G	13: 98,692,232	S137P	probably damaging	Het
Ttll3	A	T	6: 113,394,773	M44L	probably benign	Het
Vmn2r29	T	A	7: 7,241,940	I312L	probably benign	Het
Vmn2r43	A	T	7: 8,255,584	L210*	probably null	Het
Vmn2r60	A	G	7: 42,195,426	I738V	probably damaging	Het
Zfp977	T	A	7: 42,579,986	M372L	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
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
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
Z1177:Grik3	UTSW	4	125650506	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCCATGTTGACGTTGAACTGC -3'
(R):5'- TACCTGGCGATGACGAAGAG -3'

Sequencing Primer
(F):5'- CACTTAATGATCCCAGTGCTGAGG -3'
(R):5'- GGACACAGCTGACACCCAGG -3'

Posted On

2020-10-20