Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Grik3'

350572

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

041910-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R4649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125650485 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 333 (V333E)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably damaging
Transcript: ENSMUST00000030676
AA Change: V333E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: V333E

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Abca4	G	T	3: 122,169,893	V841F	probably damaging	Het
Adcy10	G	A	1: 165,504,049	E84K	probably damaging	Het
Adgrg6	C	A	10: 14,468,827	M127I	probably damaging	Het
Agpat5	A	G	8: 18,879,652	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,528,399	Y186N	possibly damaging	Het
Alx1	A	T	10: 103,009,332	N279K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Arsi	A	G	18: 60,917,098	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,224,620	R155W	probably damaging	Het
BC028528	T	C	3: 95,888,265	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,053,111	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,472,628	S296P	probably benign	Het
Bzw2	A	T	12: 36,123,981	V98E	probably null	Het
Cacna1d	C	T	14: 30,095,408	M1232I	probably benign	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Catsperb	G	A	12: 101,541,512	A513T	probably benign	Het
Cd19	A	G	7: 126,414,492	S42P	probably benign	Het
Chml	A	G	1: 175,687,396	S138P	probably benign	Het
Clic6	T	G	16: 92,530,939		probably null	Het
Col12a1	A	T	9: 79,639,794	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,379,548	E82K	probably benign	Het
Csmd2	G	A	4: 128,546,073	V3107M	probably benign	Het
Cspg4	T	A	9: 56,886,865	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,138,242	R315Q	possibly damaging	Het
Deaf1	A	G	7: 141,297,573	V547A	possibly damaging	Het
Dmxl1	C	T	18: 49,878,631	T1285I	probably damaging	Het
Dnah3	C	A	7: 120,047,698	W1036L	probably damaging	Het
Dpy19l1	A	C	9: 24,482,054	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,602,245	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,508,423	H12L	probably damaging	Het
Enam	T	C	5: 88,492,968	M163T	probably benign	Het
Fbxo22	T	A	9: 55,221,049	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,529,628	K148N	probably damaging	Het
Foxi3	A	G	6: 70,956,976	D149G	probably damaging	Het
Gbp8	C	T	5: 105,041,941	G75D	probably damaging	Het
Gm10784	C	T	13: 49,945,215		noncoding transcript	Het
Gm11127	T	C	17: 36,057,876	Y104C	possibly damaging	Het
Gm7247	G	A	14: 51,569,594		probably null	Het
Gsap	A	T	5: 21,226,311	D211V	probably damaging	Het
Ino80	T	C	2: 119,431,008	N725S	probably damaging	Het
Itgad	A	G	7: 128,189,531	I443V	probably benign	Het
Itsn1	T	A	16: 91,841,588	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,586,358		probably benign	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Lrrk1	T	C	7: 66,273,053	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850	Q41K	probably benign	Het
Mapk13	C	T	17: 28,778,487	R360*	probably null	Het
Mapk8ip3	T	A	17: 24,904,752	I599F	probably damaging	Het
Me1	T	C	9: 86,679,852	K60R	probably benign	Het
Mga	T	A	2: 119,941,493	D1532E	possibly damaging	Het
Miga1	G	A	3: 152,279,005	S427L	probably benign	Het
Mknk2	A	T	10: 80,669,339	V186E	probably damaging	Het
Myo1a	C	A	10: 127,710,217	N236K	probably benign	Het
Myt1	A	G	2: 181,797,414	D243G	probably benign	Het
Ncf4	T	C	15: 78,255,989	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,418,178	L442F	probably damaging	Het
Olfm4	G	A	14: 80,021,307	D332N	probably benign	Het
Olfr1254	C	A	2: 89,789,293	V20F	probably benign	Het
Olfr32	T	A	2: 90,139,088	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,196,082	M69K	probably benign	Het
Oxnad1	T	A	14: 32,102,409	*312K	probably null	Het
Plekhg1	A	G	10: 3,956,985	Q634R	probably benign	Het
Plekhh2	T	C	17: 84,575,263	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,549,513	H132R	probably benign	Het
Prkcq	T	C	2: 11,279,522	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prpf4b	A	T	13: 34,899,971	M908L	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Pudp	T	C	18: 50,568,188	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,184,444	S422P	probably damaging	Het
Ranbp3	T	A	17: 56,696,640		probably null	Het
Ranbp6	A	G	19: 29,810,321	V877A	probably benign	Het
Rgsl1	A	T	1: 153,817,582	S618T	probably benign	Het
Rhox2a	G	C	X: 37,245,309	R43P	probably benign	Het
Rhox2a	A	T	X: 37,245,362	I61L	probably benign	Het
Rnf207	A	C	4: 152,312,155	D466E	probably benign	Het
Rnf7	A	G	9: 96,471,830	I80T	probably benign	Het
Ros1	T	A	10: 52,129,668	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,953,780		probably null	Het
Sbk1	T	C	7: 126,291,129	S105P	probably damaging	Het
Sdk1	T	C	5: 142,006,625	Y790H	probably damaging	Het
Sec62	T	A	3: 30,810,534	N182K	unknown	Het
Slc15a1	T	C	14: 121,478,092	Y345C	probably damaging	Het
Slc27a1	G	A	8: 71,570,764	A15T	probably benign	Het
Slc35d1	A	G	4: 103,213,229	F110L	probably damaging	Het
Slc39a5	T	A	10: 128,397,267	S333C	probably benign	Het
Tarbp1	A	G	8: 126,447,195	S927P	probably damaging	Het
Tns1	A	G	1: 73,953,771	S583P	probably damaging	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Trim40	T	C	17: 36,882,639		probably null	Het
Trim42	C	A	9: 97,362,945	V601L	probably benign	Het
Trpc7	G	A	13: 56,887,554	R189C	probably damaging	Het
Ttc29	A	T	8: 78,333,579	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,903,690	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 85,221,535	A847S	probably benign	Het
Wdr63	A	G	3: 146,048,167	S713P	probably damaging	Het
Zbp1	G	A	2: 173,207,815	P385S	possibly damaging	Het
Zfat	A	G	15: 68,184,476	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,597,659	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349	N438K	probably benign	Het
Zfp952	T	A	17: 33,002,925	V88E	probably damaging	Het
Znfx1	G	T	2: 167,056,356	A216D	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
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'- ACTGAGGCTGGTCTGTCTTC -3'
(R):5'- CTGTATGCAGCAGAAACCGC -3'

Sequencing Primer
(F):5'- CTTCAGGTAAAAGGATAGGGGCTCTC -3'
(R):5'- TTCTGAGCCCCAAACCTGAG -3'

Posted On

2015-10-08