Mutagenetix > Incidental Mutation

Incidental Mutation 'R9030:Grik3'

686985

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

068859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R9030 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 125632392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 139 (H139Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably benign
Transcript: ENSMUST00000030676
AA Change: H139Q

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: H139Q

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: 99.1%

Validation Efficiency

100% (57/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	C	12: 55,379,407	F514S	probably damaging	Het
Actr5	A	C	2: 158,632,401	I375L	probably benign	Het
Adgrl2	G	T	3: 148,839,125	T778K	possibly damaging	Het
Cdc73	A	T	1: 143,609,496	L478H	probably damaging	Het
Cdh7	C	A	1: 110,100,113	H529Q	probably benign	Het
Cep55	T	C	19: 38,071,144		probably null	Het
Chd9	G	A	8: 90,956,570	R546Q	unknown	Het
Ddit4	A	T	10: 59,950,693	L178Q	probably damaging	Het
Dgke	A	T	11: 89,050,411	N315K	possibly damaging	Het
Dsg1a	A	G	18: 20,340,492	D874G	probably damaging	Het
Dsp	T	A	13: 38,168,697	Y184N	probably damaging	Het
Dynlt1c	A	G	17: 6,603,517	I20V	probably benign	Het
Ephx4	A	G	5: 107,429,683	H291R	possibly damaging	Het
Epx	A	T	11: 87,872,644	M250K	probably benign	Het
Fan1	T	C	7: 64,373,013	Y164C	probably benign	Het
Fer1l6	A	T	15: 58,630,745	Y1365F	probably damaging	Het
Fndc8	A	G	11: 82,898,696	T227A	probably benign	Het
Gbp7	T	C	3: 142,538,037	I115T	probably damaging	Het
Gm5145	A	G	17: 20,571,008	E216G	probably benign	Het
Gm94	A	T	18: 43,781,261	F77L	possibly damaging	Het
Gucy2e	T	C	11: 69,225,001	T852A	probably damaging	Het
Hif1a	T	C	12: 73,936,236	S274P	probably damaging	Het
Hmcn1	T	A	1: 150,817,119	I268L	probably benign	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Lin52	T	A	12: 84,545,907	S87T		Het
Lrrc74b	A	G	16: 17,549,776		probably null	Het
Mapk10	T	C	5: 102,996,633	K136R	probably damaging	Het
Nlrp2	A	T	7: 5,322,458	N738K	probably null	Het
Nlrp5	A	T	7: 23,430,148	Q880L	possibly damaging	Het
Nov	A	T	15: 54,752,291	Y284F	probably damaging	Het
Olfr1167	A	T	2: 88,149,374	I215N	possibly damaging	Het
Olfr1381	T	A	11: 49,551,981	V78E	probably damaging	Het
Olfr811	G	T	10: 129,802,057	P156Q	probably damaging	Het
P4htm	G	A	9: 108,597,428	P46L	probably benign	Het
Pcsk4	A	T	10: 80,329,024	H69Q	probably damaging	Het
Pdzd2	A	G	15: 12,374,299	S1917P	probably benign	Het
Pnpla5	A	G	15: 84,113,886	V385A	possibly damaging	Het
Rims2	C	T	15: 39,476,477	R856C	probably damaging	Het
Rprd2	A	G	3: 95,784,310	Y218H	probably benign	Het
Sat2	T	A	11: 69,622,243		probably benign	Het
Sf1	C	T	19: 6,376,306	R186C		Het
Snrnp200	A	G	2: 127,211,546		probably benign	Het
Sqor	A	T	2: 122,787,594	D124V	probably benign	Het
Ssh2	A	G	11: 77,421,236	H191R	possibly damaging	Het
Stac	C	A	9: 111,690,252		probably benign	Het
Svs4	T	C	2: 164,277,138	M93V	unknown	Het
Tbc1d32	A	T	10: 56,161,145	S668T	possibly damaging	Het
Tex10	A	G	4: 48,452,056	F690S	probably damaging	Het
Tex30	A	G	1: 44,091,196	M88T		Het
Tgfbrap1	T	C	1: 43,056,677	T534A	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tnrc18	T	C	5: 142,726,063	E2647G	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989		probably benign	Het
Tubb3	A	T	8: 123,418,957	R62W	probably damaging	Het
Vmn2r108	A	G	17: 20,470,050	S507P	probably benign	Het
Vmn2r116	A	G	17: 23,384,890	K30E	possibly damaging	Het
Vmn2r14	G	A	5: 109,220,188	H313Y	probably damaging	Het
Wdr37	C	T	13: 8,835,388	V340M	probably damaging	Het
Zfp799	A	G	17: 32,820,591	F234L	possibly 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
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
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'- TGGGAATGTCAAAATCACTGC -3'
(R):5'- CTAATGTTGGGGCTCTGCTC -3'

Sequencing Primer
(F):5'- GGAATGTCAAAATCACTGCCCACTC -3'
(R):5'- GGGCTCTGCTCCCTCCC -3'

Posted On

2021-11-19