Mutagenetix > Incidental Mutation

Incidental Mutation 'R7790:Grik3'

599795

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

Essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R7790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125686019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 519 (L519P)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably damaging
Transcript: ENSMUST00000030676
AA Change: L519P

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

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: L519P

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

0.9077

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201	I136F	possibly damaging	Het
3110043O21Rik	T	C	4: 35,192,997	D444G	unknown	Het
4932415D10Rik	C	T	10: 82,287,495	C3227Y	probably benign	Het
Abca13	A	T	11: 9,297,915	K2554M	probably damaging	Het
Ankrd12	C	T	17: 65,984,230	D1403N	possibly damaging	Het
Ankrd17	A	G	5: 90,260,152	V1402A	possibly damaging	Het
Ankrd36	A	T	11: 5,635,176	N329I	possibly damaging	Het
Atr	A	T	9: 95,874,180	D815V	probably damaging	Het
Ceacam1	T	C	7: 25,473,950	Y271C	probably damaging	Het
Cenpo	T	C	12: 4,214,597	H265R	probably benign	Het
Chd8	G	A	14: 52,226,082	R702W	probably damaging	Het
Ckap5	A	G	2: 91,559,110	N309S	probably benign	Het
Cxxc1	C	T	18: 74,217,784	R83C	probably damaging	Het
Dcaf6	T	C	1: 165,399,715	D281G	probably damaging	Het
Dennd4c	A	G	4: 86,799,517	T584A	probably damaging	Het
Dync2h1	G	T	9: 7,114,914	H2415N	probably damaging	Het
Dzip1l	A	G	9: 99,660,962	E490G	possibly damaging	Het
Fam124a	T	C	14: 62,606,077	S345P	probably benign	Het
Fam83b	G	A	9: 76,492,048	T591I	probably benign	Het
Frem1	T	C	4: 82,989,164	S838G	probably benign	Het
Fsip2	G	T	2: 82,988,379	D4819Y	probably benign	Het
Gm43302	T	G	5: 105,277,825	K246T	probably benign	Het
Gm5861	C	A	5: 11,184,218	H30Q	probably benign	Het
Gml	T	C	15: 74,813,613		probably benign	Het
Gpc1	A	T	1: 92,853,449	H90L	probably benign	Het
Grwd1	A	G	7: 45,826,014	V368A	probably damaging	Het
Gstm3	G	A	3: 107,969,239		probably benign	Het
Gtpbp6	A	G	5: 110,104,386	S427P	probably damaging	Het
Heatr5b	C	T	17: 78,818,823	G560E	probably damaging	Het
Heatr9	A	G	11: 83,518,193	V176A	probably damaging	Het
Hsf2bp	A	G	17: 32,034,479	V5A	probably benign	Het
Ints3	G	T	3: 90,400,413	Q660K	probably benign	Het
Itpr2	A	T	6: 146,224,776	L2048Q	probably damaging	Het
Kcnq1	G	A	7: 143,106,605		probably null	Het
Lsm12	A	T	11: 102,165,169		probably null	Het
Mcoln3	A	G	3: 146,139,492	Y481C	probably damaging	Het
Meis3	A	G	7: 16,182,397	N266D	probably benign	Het
Mgat5	G	A	1: 127,412,204	E441K	probably benign	Het
Mroh6	C	T	15: 75,884,240	R689H	probably benign	Het
Mtg1	T	C	7: 140,149,749	Y251H	probably damaging	Het
Mtus2	A	T	5: 148,078,188	Q597L	probably benign	Het
Myt1	A	G	2: 181,797,597	E346G	probably benign	Het
Nat8f4	A	G	6: 85,900,891	S217P	probably benign	Het
Ngf	G	A	3: 102,509,824	G17R	unknown	Het
Olfr863-ps1	A	T	9: 19,941,684	M252K	unknown	Het
Pam	T	C	1: 97,821,847	Y968C	probably damaging	Het
Pcdhga7	T	A	18: 37,714,943	M1K	probably null	Het
Pde8b	G	T	13: 95,034,171	D554E	probably benign	Het
Pdzd7	G	A	19: 45,045,523	R41*	probably null	Het
Pkhd1l1	C	T	15: 44,578,581	P3639S	probably damaging	Het
Plce1	A	T	19: 38,780,696	E2280V	probably damaging	Het
Prrxl1	T	A	14: 32,628,888	L227Q	probably damaging	Het
Ryr1	T	C	7: 29,104,832	I538V	probably benign	Het
Scaf11	A	G	15: 96,419,061	L874P	possibly damaging	Het
Scpep1	G	T	11: 88,933,521	D307E	possibly damaging	Het
Sept4	A	G	11: 87,589,239	E327G	probably damaging	Het
Skint2	T	G	4: 112,616,554	V11G	possibly damaging	Het
Slc26a4	T	C	12: 31,544,483	N289D	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038		probably benign	Het
Slx4	T	C	16: 3,986,982	E656G	probably benign	Het
Socs5	T	C	17: 87,134,363	S244P	probably benign	Het
Stt3b	A	C	9: 115,276,819	L196R	probably damaging	Het
Syne2	T	A	12: 75,929,103		probably null	Het
Tab2	T	A	10: 7,920,424	N24I	probably damaging	Het
Taf4b	T	C	18: 14,813,274	S385P	probably damaging	Het
Tg	T	C	15: 66,849,604	Y2720H	probably damaging	Het
Tjap1	C	T	17: 46,258,690	G448E	probably benign	Het
Tll1	A	T	8: 64,025,237	C827*	probably null	Het
Tlr11	T	A	14: 50,361,925	I456K	probably benign	Het
Tmem209	T	C	6: 30,497,855	D305G	probably damaging	Het
Tmem82	A	T	4: 141,617,724		probably null	Het
Tnfrsf14	A	G	4: 154,923,293	V207A	probably benign	Het
Tnks	A	T	8: 34,861,540	N625K	probably benign	Het
Tomm20	G	A	8: 126,939,950	P58S	possibly damaging	Het
Ttc9b	A	G	7: 27,654,336	D137G	probably benign	Het
Ulk4	C	T	9: 121,263,668	E168K	possibly damaging	Het
Usp9y	T	A	Y: 1,444,573	D122V	probably damaging	Het
Vps41	C	A	13: 18,842,268	T512K	possibly damaging	Het
Wdr49	T	A	3: 75,275,028	N698I	probably benign	Het
Zfp568	G	A	7: 30,022,725	C365Y	probably damaging	Het
Zfp663	A	T	2: 165,352,533	C589S	probably damaging	Het
Zfp971	A	G	2: 178,033,499	K297R	probably damaging	Het
Zkscan16	G	T	4: 58,951,843	E173*	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
R7390:Grik3	UTSW	4	125649739	missense	probably damaging	1.00
R7604:Grik3	UTSW	4	125623635	missense	probably damaging	0.97
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'- GTCCATGTTGACGTTGAACTGC -3'
(R):5'- TACCTGGCGATGACGAAGAG -3'

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

Posted On

2019-11-26