Mutagenetix > Incidental Mutation

Incidental Mutation 'R5549:Grik3'

435027

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

043106-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R5549 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125686045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 528 (A528T)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030676
AA Change: A528T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: A528T

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: 98.6%
20x: 95.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,663,036	E324G	possibly damaging	Het
Acad8	C	T	9: 26,985,551	R204Q	probably damaging	Het
Adgrg7	T	G	16: 56,750,427	T413P	probably damaging	Het
Ankrd11	A	G	8: 122,890,378	I2224T	probably benign	Het
Arhgap23	A	G	11: 97,466,568	D964G	probably damaging	Het
Atf6b	A	G	17: 34,651,683	D367G	probably damaging	Het
Axdnd1	A	G	1: 156,398,534	L131P	probably damaging	Het
BC003331	A	G	1: 150,372,158	S325P	possibly damaging	Het
Bmp8b	T	C	4: 123,124,485	V383A	probably damaging	Het
C5ar2	A	G	7: 16,236,943	V353A	probably damaging	Het
Ccr5	C	A	9: 124,125,371	A337E	probably benign	Het
Cftr	G	A	6: 18,227,954	V382I	probably benign	Het
Csmd3	G	C	15: 48,185,357	S446C	probably damaging	Het
Cyp2d12	A	G	15: 82,556,297	T96A	probably benign	Het
Diaph3	T	G	14: 86,978,670	I465L	probably benign	Het
Fabp3	A	G	4: 130,315,225	*134W	probably null	Het
Fam213a	T	C	14: 41,004,056	K44E	possibly damaging	Het
Fgf22	G	T	10: 79,756,862	M130I	probably damaging	Het
Flnc	G	A	6: 29,453,691	V1792M	probably damaging	Het
Hecw2	G	A	1: 53,925,691	R659W	possibly damaging	Het
Hmbs	C	T	9: 44,339,477		probably null	Het
Ift122	T	G	6: 115,892,022	L490R	probably damaging	Het
Igkv4-63	T	C	6: 69,378,132	H55R	probably damaging	Het
Itga4	A	T	2: 79,256,267	N96I	probably damaging	Het
Kcna7	A	T	7: 45,406,639	H93L	probably damaging	Het
Klhdc7b	A	G	15: 89,387,359	I815V	probably benign	Het
Lcmt1	G	A	7: 123,428,107	E298K	probably damaging	Het
Ly6g6f	A	G	17: 35,083,357	V68A	possibly damaging	Het
Map3k8	C	T	18: 4,340,762	C184Y	probably damaging	Het
Mcemp1	A	G	8: 3,668,340	T183A	possibly damaging	Het
Mobp	T	G	9: 120,167,810	S2R	probably damaging	Het
Mprip	A	G	11: 59,760,818	S1783G	probably benign	Het
Mterf3	C	A	13: 66,928,257	A129S	probably benign	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Nr2c1	A	G	10: 94,167,696	T239A	probably benign	Het
Olfr541	A	G	7: 140,704,799		probably null	Het
Oplah	G	A	15: 76,298,266	A963V	probably damaging	Het
Parp14	C	T	16: 35,841,135	S1481N	probably benign	Het
Rictor	C	T	15: 6,786,910	T1221M	probably damaging	Het
Rpe	G	A	1: 66,716,004	D182N	probably damaging	Het
Slc24a3	C	A	2: 145,606,864	P443T	probably damaging	Het
Slc25a47	T	C	12: 108,856,217	*311Q	probably null	Het
Sox2	C	G	3: 34,650,993	A193G	probably benign	Het
Svep1	T	C	4: 58,057,954	S3284G	probably benign	Het
Zfp369	A	T	13: 65,297,380	H779L	probably damaging	Het
Zfp513	A	T	5: 31,200,603	L144Q	possibly damaging	Het
Zfp526	T	C	7: 25,225,684	F456S	possibly damaging	Het
Zfp791	C	T	8: 85,110,206	G343D	probably damaging	Het
Zfp941	A	C	7: 140,808,108	I664S	possibly damaging	Het
Zkscan3	A	G	13: 21,394,063	V189A	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
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'- CCATGTTGACGTTGAACTGC -3'
(R):5'- TTACCTGGCGATGACGAAG -3'

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

Posted On

2016-10-24