Mutagenetix > Incidental Mutation

Incidental Mutation 'R7390:Grik3'

573349

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

045472-MU

Accession Numbers

Essential gene?

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

Stock #

R7390 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125649739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 283 (R283C)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably damaging
Transcript: ENSMUST00000030676
AA Change: R283C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: R283C

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: 99.0%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	G	9: 94,537,383	S165P	probably damaging	Het
4930486L24Rik	A	T	13: 60,844,338	D291E	probably benign	Het
Abca9	C	T	11: 110,145,661	V541I	probably benign	Het
Adamts15	A	T	9: 30,911,108		probably null	Het
Adgrg7	A	G	16: 56,732,844	I630T	probably damaging	Het
Ahnak	A	G	19: 9,003,205	I618V	probably benign	Het
Amotl2	T	A	9: 102,731,690	V801E	probably damaging	Het
Ankrd17	T	C	5: 90,282,920	T1002A	probably benign	Het
Bmp7	C	T	2: 172,870,205	D409N	probably damaging	Het
Bpifb2	A	G	2: 153,889,806	N293S	possibly damaging	Het
Ccdc162	A	G	10: 41,634,048	C854R	probably benign	Het
Ccdc171	A	G	4: 83,818,067	E1225G	probably damaging	Het
Cep350	T	C	1: 155,866,087	E2146G	possibly damaging	Het
Ces1a	A	C	8: 93,044,841		probably null	Het
Cfap45	T	G	1: 172,541,358	D444E	probably benign	Het
Cfap61	T	C	2: 146,001,882	V296A	probably benign	Het
Cgnl1	C	T	9: 71,645,649	R1011H	probably benign	Het
Cops4	C	T	5: 100,543,875	R347C	probably damaging	Het
D16Ertd472e	G	T	16: 78,547,688	D177E	probably benign	Het
Dcdc2a	T	C	13: 25,107,617	V195A	possibly damaging	Het
Dpagt1	G	A	9: 44,332,022	V285I	probably benign	Het
Dspp	G	T	5: 104,175,686	A232S	probably damaging	Het
Ephx2	G	A	14: 66,110,455			Het
Fat1	T	C	8: 44,952,474	V754A	possibly damaging	Het
Fstl3	G	A	10: 79,780,031	C117Y	probably damaging	Het
Gldc	A	T	19: 30,099,914	S953T	possibly damaging	Het
Gm1123	T	C	9: 99,010,980	N315S	probably benign	Het
Gm11639	T	C	11: 104,724,585	I726T	possibly damaging	Het
Golga2	A	G	2: 32,288,190	E37G		Het
Gpr139	T	A	7: 119,144,612	Q250L	probably benign	Het
Haao	A	C	17: 83,846,652	V22G	probably damaging	Het
Hspg2	T	A	4: 137,539,179	F1884I	probably damaging	Het
Hyal3	G	A	9: 107,584,967	G67S	probably damaging	Het
Kbtbd3	T	A	9: 4,330,424	I266K	probably benign	Het
Klhl26	A	C	8: 70,452,849	L137R	probably damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Lars	A	G	18: 42,210,018		probably null	Het
Lats1	C	T	10: 7,702,095	Q328*	probably null	Het
Lingo3	G	A	10: 80,834,629	T489I	probably damaging	Het
Lmtk2	T	C	5: 144,129,443	V65A	possibly damaging	Het
Lysmd1	T	C	3: 95,138,484	S211P	probably damaging	Het
Med15	C	T	16: 17,722,762	S21N	unknown	Het
Nav1	T	C	1: 135,584,918	T135A	probably benign	Het
Nt5c1a	G	C	4: 123,208,479	R66T	probably benign	Het
Pclo	T	C	5: 14,682,010	Y3509H	unknown	Het
Pkp4	G	A	2: 59,310,140	G397R	possibly damaging	Het
Ppp1r21	G	A	17: 88,549,530	A138T	probably benign	Het
Pum3	A	T	19: 27,424,242	V136D	probably benign	Het
Rab11fip3	A	T	17: 26,068,152	D342E	possibly damaging	Het
Rcvrn	T	A	11: 67,700,057	W156R	probably damaging	Het
Rspry1	C	T	8: 94,623,185	T67I	probably benign	Het
Serpina1d	T	C	12: 103,767,778	D89G	possibly damaging	Het
Sgsm3	T	A	15: 81,008,820	V366E	possibly damaging	Het
Shank3	T	G	15: 89,549,312	L1420R	probably benign	Het
Sirpb1b	A	T	3: 15,543,040	L215*	probably null	Het
Slc16a13	C	T	11: 70,218,971	V235I	probably benign	Het
Slc16a14	T	C	1: 84,929,466	D29G	probably benign	Het
Speer1	T	C	5: 11,344,912	V122A	probably benign	Het
Spns2	T	A	11: 72,456,878	T329S	possibly damaging	Het
Sufu	G	A	19: 46,450,669		probably null	Het
Tll2	A	G	19: 41,120,169		probably null	Het
Trim10	G	A	17: 36,869,881	M1I	probably null	Het
Trim42	A	C	9: 97,359,129	N683K	probably damaging	Het
Trmt5	A	G	12: 73,281,620	S270P	probably damaging	Het
Vmn1r59	C	A	7: 5,453,987	R258L	possibly damaging	Het
Vmn2r32	A	G	7: 7,479,852	L41S	probably benign	Het
Vmn2r93	A	T	17: 18,305,067	E329V	probably damaging	Het
Ywhae	G	T	11: 75,764,661	E253*	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
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
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'- TTTCATGCACAGGGCTCTGC -3'
(R):5'- ACTGAAGGGCCTCAGTAACTAG -3'

Sequencing Primer
(F):5'- TCTGCAGGGAGCCACAACTC -3'
(R):5'- AGAAAGGATGAGGTCTTGAATTGTTC -3'

Posted On

2019-09-13