Mutagenetix > Incidental Mutation

Incidental Mutation 'R6783:Grik3'

531500

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

044897-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R6783 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125632300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 109 (I109F)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably benign
Transcript: ENSMUST00000030676
AA Change: I109F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: I109F

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.8%

Validation Efficiency

95% (42/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	G	A	8: 11,655,661	Q39*	probably null	Het
5430419D17Rik	T	C	7: 131,226,764	L316P	probably damaging	Het
Adam12	T	A	7: 133,974,397	Q228L	probably damaging	Het
Arhgap45	A	G	10: 80,017,864	T71A	possibly damaging	Het
Bag6	T	A	17: 35,144,235	S684T	possibly damaging	Het
BC067074	A	T	13: 113,320,209	K930*	probably null	Het
Bcam	C	T	7: 19,766,881	G123R	probably damaging	Het
Cdr2l	C	T	11: 115,393,669	A277V	possibly damaging	Het
Clcn4	T	A	7: 7,299,182		probably benign	Het
Csnk1g1	T	A	9: 65,973,512	I72N	probably damaging	Het
Ddx31	G	A	2: 28,874,176	V465I	probably benign	Het
Ddx54	C	T	5: 120,618,714	Q163*	probably null	Het
Dnmt3a	A	G	12: 3,897,406	E459G	probably damaging	Het
Dpp8	T	C	9: 65,063,562	S568P	possibly damaging	Het
Drap1	G	T	19: 5,424,191	T47K	probably damaging	Het
Epha7	G	T	4: 28,950,528	R777L	possibly damaging	Het
Far2	T	G	6: 148,150,775		probably null	Het
Fhdc1	T	C	3: 84,445,527	K797R	probably benign	Het
Gm10330	A	T	12: 23,780,093	M29K	probably damaging	Het
Gm17689	T	A	9: 36,581,335		probably null	Het
Gm5640	C	T	X: 74,640,415	R355H	probably damaging	Homo
Il31ra	T	C	13: 112,551,988		probably null	Het
Itga1	T	G	13: 114,996,977	I466L	probably benign	Het
Itpr2	A	T	6: 146,385,873		probably null	Het
Mical3	A	C	6: 120,958,825	L1580R	possibly damaging	Het
Olfr299	T	A	7: 86,465,627	V72D	probably damaging	Het
Olfr732	T	C	14: 50,282,187	D22G	probably benign	Het
Palb2	T	A	7: 122,127,488	E386D	probably damaging	Het
Papd4	G	A	13: 93,155,018	A368V	probably benign	Het
Papd4	C	G	13: 93,155,019	A372P	probably benign	Het
Polm	C	A	11: 5,835,534	R175L	probably damaging	Het
Prpf40b	C	T	15: 99,314,903	R627W	probably damaging	Het
Ptcd3	A	T	6: 71,908,643	V33D	probably benign	Het
Ripk4	C	A	16: 97,748,037	R273L	probably damaging	Het
Rpap2	A	G	5: 107,655,287	T612A	probably damaging	Het
Serpinb10	A	G	1: 107,546,867	N253S	possibly damaging	Het
Sgpp1	G	C	12: 75,735,469	P32R	probably benign	Het
Sim1	T	C	10: 50,908,727	I156T	possibly damaging	Het
Ski	A	T	4: 155,160,832		probably null	Het
Trdn	C	T	10: 33,438,815	R512C	probably damaging	Het
Trim33	T	C	3: 103,352,087	Y1031H	probably damaging	Het
Use1	T	C	8: 71,369,236	L188P	probably damaging	Het
Usp34	G	A	11: 23,412,318	G1588D	probably damaging	Het
Vmn2r33	C	A	7: 7,563,798	R105L	probably benign	Het
Vmn2r53	G	A	7: 12,601,433	S100F	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
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'- AAGGAGAGATCGTTACAGCCCC -3'
(R):5'- TTGAGGGACTGGACCAAGTC -3'

Sequencing Primer
(F):5'- TTACAGCCCCATTGCTCAGATGAG -3'
(R):5'- CTGGACCAAGTCGAGGATGGC -3'

Posted On

2018-08-29