Mutagenetix > Incidental Mutations

Incidental Mutation 'R7952:Grik3'

649606

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 #

R7952 (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 125704547 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 769 (T769I)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably damaging
Transcript: ENSMUST00000030676
AA Change: T769I

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

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: T769I

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (47/48)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,752,338	S516P	possibly damaging	Het
Adora1	A	G	1: 134,203,286	S216P	possibly damaging	Het
Arhgap17	G	T	7: 123,286,691	S739R	probably benign	Het
Bphl	A	G	13: 34,046,797	T75A	probably benign	Het
Ccdc73	G	A	2: 104,945,456		probably null	Het
Cela3b	T	C	4: 137,421,908	I262V	probably benign	Het
Chpf	T	C	1: 75,478,942	N55S	probably benign	Het
Chst8	A	G	7: 34,675,494	Y307H	probably damaging	Het
Cmtm2b	G	T	8: 104,330,571	E188*	probably null	Het
Cmya5	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	13: 93,097,004		probably benign	Het
Cxadr	C	T	16: 78,334,235	T213M	possibly damaging	Het
D3Ertd751e	T	A	3: 41,748,661		probably null	Het
Dhx32	T	C	7: 133,748,996	Y115C	probably benign	Het
Dopey2	C	A	16: 93,749,960	T284K	possibly damaging	Het
Dync2h1	A	G	9: 7,129,802	V1732A	possibly damaging	Het
Egf	C	T	3: 129,739,996	R65Q	probably damaging	Het
Fat4	T	G	3: 38,891,721	S1588A	probably damaging	Het
Fmnl3	A	G	15: 99,322,637	V588A	probably damaging	Het
Galnt3	C	T	2: 66,097,842	E237K	probably benign	Het
Gm7682	T	C	5: 94,447,043	V254A	probably benign	Het
Grik2	T	C	10: 49,422,537	I363V	probably benign	Het
Hpd	A	T	5: 123,178,264	D141E	possibly damaging	Het
Hrc	A	T	7: 45,336,268	D281V	probably damaging	Het
Igfn1	A	T	1: 135,963,955	I2274K	probably damaging	Het
Iqgap3	A	G	3: 88,098,370	I502V	probably benign	Het
Kcnh8	A	T	17: 52,959,465	Q835L	probably benign	Het
Kmt2d	C	T	15: 98,850,768	G2892R	unknown	Het
Lama4	T	G	10: 39,030,490	I284S	probably benign	Het
Madd	C	A	2: 91,162,541	G1011V	probably damaging	Het
Mroh2b	T	C	15: 4,951,211	F1421L	probably damaging	Het
Nadk	G	T	4: 155,577,067	D17Y	probably benign	Het
Nedd9	C	A	13: 41,316,955	D241Y	probably damaging	Het
Notch2	T	C	3: 98,100,236	V434A	probably benign	Het
Ofcc1	C	T	13: 40,280,305	R108Q	probably benign	Het
Olfr118	T	C	17: 37,672,817	Y265H	probably damaging	Het
Olfr578	A	G	7: 102,984,514	F217L	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prss55	A	G	14: 64,075,683	Y251H	probably damaging	Het
Rec8	T	C	14: 55,625,303	V573A	possibly damaging	Het
Ryr2	T	C	13: 11,646,427		probably null	Het
Sec31b	A	G	19: 44,520,540	S667P	probably benign	Het
Smim17	A	G	7: 6,424,850	D45G	possibly damaging	Het
Sspo	A	G	6: 48,487,329	T3906A	probably damaging	Het
Tanc2	G	T	11: 105,896,597	G908W	probably damaging	Het
Tcf7l2	A	T	19: 55,898,557	M1L	probably benign	Het
Tcrg-C4	T	A	13: 19,349,570	S121R		Het
Tpx2	C	T	2: 152,893,594	A714V	probably damaging	Het
Trmt1	G	A	8: 84,689,340	R9H	possibly damaging	Het
Unc13a	A	T	8: 71,658,487	V360E	possibly damaging	Het
Vmn1r225	T	A	17: 20,502,327	I10N	probably damaging	Het
Xkr4	A	G	1: 3,670,619	S244P	possibly damaging	Het
Zkscan14	G	T	5: 145,195,898	H274Q	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
R7822:Grik3	UTSW	4	125656397	critical splice donor site	probably null
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
Z1177:Grik3	UTSW	4	125650506	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ATGTGGGCCTTCATGAGCAG -3'
(R):5'- ACTCACTGGGCATAGAACCTG -3'

Sequencing Primer
(F):5'- GCCTTCATGAGCAGCAAGC -3'
(R):5'- ATAGAACCTGTGGCCCCG -3'

Posted On

2020-09-15