Mutagenetix > Incidental Mutations

Incidental Mutation 'R1296:Grik3'

158112

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

039362-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R1296 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 125704564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably benign
Transcript: ENSMUST00000030676

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.5%
20x: 87.1%

Validation Efficiency

100% (72/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	G	A	8: 55,871,719	Q567*	probably null	Het
Apol11a	T	C	15: 77,511,019		probably benign	Het
Arhgap29	A	G	3: 121,992,395	H275R	probably benign	Het
Arhgef17	C	A	7: 100,881,269	E428*	probably null	Het
Atm	A	T	9: 53,456,530	V2431E	probably damaging	Het
Atn1	G	T	6: 124,747,787	P161Q	unknown	Het
Atp13a2	T	C	4: 140,993,802	S99P	probably damaging	Het
Atp8a1	A	T	5: 67,622,706		probably benign	Het
Cbwd1	A	T	19: 24,942,675		probably benign	Het
Cdk18	T	C	1: 132,119,960		probably benign	Het
Cep85	A	G	4: 134,167,400	W32R	probably damaging	Het
Cntn4	G	T	6: 106,509,402	G264C	probably damaging	Het
Col6a4	A	G	9: 106,062,853	S1293P	possibly damaging	Het
Col6a6	T	C	9: 105,781,091	K641E	probably damaging	Het
Dmd	A	T	X: 83,878,520	K1465N	probably damaging	Het
Dus2	T	C	8: 106,053,043	V403A	possibly damaging	Het
Frs2	C	T	10: 117,081,074	C5Y	probably benign	Het
Gm5174	A	G	10: 86,657,002		noncoding transcript	Het
Gm6990	T	A	19: 56,755,334		noncoding transcript	Het
Gpr61	A	G	3: 108,150,481	V288A	possibly damaging	Het
Haao	T	A	17: 83,838,838	Q69L	probably benign	Het
Ints6	T	C	14: 62,704,903		probably benign	Het
Ints8	T	C	4: 11,221,204	I724V	possibly damaging	Het
Lrrk2	G	A	15: 91,728,920	C749Y	probably damaging	Het
Map4k1	A	G	7: 28,998,452	D471G	possibly damaging	Het
Mbtd1	A	G	11: 93,910,359	Y122C	probably damaging	Het
Mrfap1	A	G	5: 36,796,473	S41P	possibly damaging	Het
Mrm2	T	C	5: 140,328,553	T176A	probably benign	Het
Mslnl	T	C	17: 25,743,240	L204P	probably damaging	Het
Muc6	T	C	7: 141,651,879	E112G	probably benign	Het
Nfyb	A	G	10: 82,750,831		probably benign	Het
Nlgn3	T	C	X: 101,308,916		probably benign	Het
Nr3c1	G	A	18: 39,486,998	Q79*	probably null	Het
Nxpe4	C	G	9: 48,396,493	T299R	probably benign	Het
Otud4	C	A	8: 79,673,974	H1105N	unknown	Het
Pcnx2	A	G	8: 125,773,833	L1506P	probably damaging	Het
Prl2c5	T	A	13: 13,189,424	H88Q	probably damaging	Het
Psmb2	A	G	4: 126,687,032	Y73C	probably damaging	Het
Rbl1	A	T	2: 157,169,971	V688D	probably benign	Het
Rhox2g	C	A	X: 37,643,212		probably benign	Het
Rmnd5a	G	A	6: 71,398,455	L80F	probably benign	Het
Ryr2	T	C	13: 11,687,879		probably benign	Het
Sele	T	A	1: 164,050,810	S239R	probably damaging	Het
Siglecf	A	T	7: 43,355,920	R435*	probably null	Het
Slc23a1	C	T	18: 35,622,623	V407M	possibly damaging	Het
Slc6a14	G	A	X: 21,721,568	V122I	probably benign	Het
Spdl1	T	A	11: 34,813,607	E466D	unknown	Het
Stau2	A	G	1: 16,440,372	F121L	probably benign	Het
Stxbp1	A	T	2: 32,794,636	S594T	probably benign	Het
Sufu	G	A	19: 46,454,720		probably benign	Het
Tap2	G	T	17: 34,211,915	V330L	probably benign	Het
Tbc1d1	T	C	5: 64,264,432	L389P	probably damaging	Het
Tbx2	A	G	11: 85,834,766	E181G	probably damaging	Het
Tmem56	A	G	3: 121,207,291	V231A	probably benign	Het
Tmprss9	G	T	10: 80,890,445	A510S	probably benign	Het
Tnxb	G	A	17: 34,671,577	C298Y	probably damaging	Het
Tril	G	T	6: 53,818,027	R737S	probably damaging	Het
Ugt2a3	A	T	5: 87,327,146	L413Q	probably damaging	Het
Vcan	A	G	13: 89,657,556	I2335T	probably damaging	Het
Vmn2r28	T	C	7: 5,481,545	N552S	possibly damaging	Het
Zc3h7a	C	T	16: 11,161,026	R95H	probably damaging	Het
Zfp598	A	G	17: 24,679,649	N474S	probably benign	Het
Zpld1	T	C	16: 55,248,334	D138G	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
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
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
Z1177:Grik3	UTSW	4	125650506	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGGAGCCATGCTGAGTGACTGAAG -3'
(R):5'- GATGACCAAGCCAGGATTGTGTCTC -3'

Sequencing Primer
(F):5'- GATCTCCACCTTTGAGAAGATGTG -3'
(R):5'- CAGGATTGTGTCTCCATCCC -3'

Posted On

2014-02-18