Mutagenetix > Incidental Mutations

Incidental Mutation 'R6221:Grik3'

504007

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 #

R6221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125490700-125714173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125705123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 828 (L828Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably damaging
Transcript: ENSMUST00000030676
AA Change: L828Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: L828Q

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: 99.4%
20x: 98.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,175,450	M108V	probably benign	Het
Adgrl1	C	T	8: 83,937,687	Q1236*	probably null	Het
Adprhl1	T	C	8: 13,225,634	I375V	probably benign	Het
Akap2	C	T	4: 57,855,618	Q559*	probably null	Het
B020031M17Rik	T	G	13: 119,949,998	H24P	probably damaging	Het
Bsn	A	G	9: 108,105,566	S3663P	unknown	Het
Ccdc114	T	C	7: 45,947,479	L410P	probably damaging	Het
Cfap44	A	T	16: 44,437,186	Q1028L	probably benign	Het
Cftr	A	C	6: 18,282,501	T1067P	probably benign	Het
Col1a2	T	C	6: 4,539,490	S1253P	unknown	Het
Dkk3	A	G	7: 112,121,646	Y158H	probably damaging	Het
Dmxl1	A	G	18: 49,871,732	Y949C	probably damaging	Het
E130311K13Rik	T	C	3: 63,915,731	Y164C	probably benign	Het
Evx1	T	A	6: 52,316,783	V312E	probably damaging	Het
Fam240b	T	C	13: 64,481,777	N75S	probably benign	Het
Fat2	A	G	11: 55,296,072		probably null	Het
Fbn1	G	T	2: 125,320,921	D2148E	probably benign	Het
Fzd4	A	G	7: 89,404,892	H69R	probably damaging	Het
Fzd6	T	C	15: 39,030,844	V135A	probably benign	Het
Gimap8	T	C	6: 48,658,942	L547S	probably damaging	Het
Gm12394	A	T	4: 42,793,153	N326K	probably benign	Het
Gnrhr	G	A	5: 86,185,403	Q203*	probably null	Het
Gpaa1	T	G	15: 76,333,832	V341G	probably benign	Het
Heatr5b	T	C	17: 78,766,954	N1568S	probably benign	Het
Hpf1	T	A	8: 60,893,774	V41E	probably damaging	Het
Hsd3b1	A	T	3: 98,853,156	M173K	probably benign	Het
Hsd3b6	A	G	3: 98,806,533	I150T	probably benign	Het
Ica1	C	G	6: 8,644,181	L369F	possibly damaging	Het
Inf2	T	G	12: 112,603,745	S293A	possibly damaging	Het
Klra10	T	C	6: 130,269,272	T247A	probably benign	Het
Kpna1	G	A	16: 36,020,688	G91D	probably benign	Het
Ldlrap1	C	T	4: 134,757,360	E108K	probably damaging	Het
Ltb4r2	C	T	14: 55,762,083	R54W	probably damaging	Het
Mki67	A	G	7: 135,697,914	F1797S	probably benign	Het
Mlh3	C	A	12: 85,268,418	Q331H	possibly damaging	Het
Nol11	G	T	11: 107,171,616	T598K	possibly damaging	Het
Olfr1489	T	A	19: 13,633,466	Y118*	probably null	Het
Oxct2b	T	C	4: 123,116,808	Y174H	probably damaging	Het
Pclo	G	A	5: 14,675,313	R1395Q	unknown	Het
Ppara	A	G	15: 85,777,680	I41V	probably benign	Het
Ppip5k2	A	T	1: 97,730,028	I766K	probably damaging	Het
Ppm1j	A	G	3: 104,785,776	N483S	possibly damaging	Het
Prex2	T	C	1: 11,266,012	I1478T	probably benign	Het
Ror2	T	C	13: 53,113,217	Y394C	probably damaging	Het
Rsl1d1	A	G	16: 11,201,311	V121A	probably damaging	Het
Sart3	C	T	5: 113,743,206	A938T	probably benign	Het
Slc15a1	T	C	14: 121,464,904	Q610R	probably null	Het
Slc1a6	A	G	10: 78,800,076	E325G	probably damaging	Het
Slc7a13	A	G	4: 19,839,305	I303V	probably benign	Het
Smc3	T	A	19: 53,641,931	V1123E	probably damaging	Het
Smco1	G	A	16: 32,273,205	V34I	probably benign	Het
Spag1	A	G	15: 36,197,803	R304G	probably benign	Het
Spta1	A	G	1: 174,181,776	D293G	probably damaging	Het
Sspo	C	A	6: 48,463,705	P1751Q	probably damaging	Het
Syt14	A	T	1: 192,930,600	Y631N	probably damaging	Het
Taar3	A	G	10: 23,950,072	N172S	possibly damaging	Het
Tank	A	G	2: 61,650,083	E321G	probably damaging	Het
Thbs1	C	A	2: 118,119,997	L704M	probably damaging	Het
Tmem116	C	T	5: 121,491,108	T188M	probably benign	Het
Togaram1	A	T	12: 64,966,546	E190D	probably damaging	Het
Traf1	A	C	2: 34,948,301	V175G	probably benign	Het
Trib3	A	T	2: 152,338,608	C222S	probably damaging	Het
Tsen34	T	A	7: 3,695,544	I229N	probably damaging	Het
Ttc28	A	G	5: 111,271,248	D1370G	probably benign	Het
Ugt1a5	G	A	1: 88,166,242	R64H	probably benign	Het
Vdac2	G	A	14: 21,845,178	G265R	possibly damaging	Het
Vdac3	A	G	8: 22,588,743	V17A	possibly damaging	Het
Yif1b	C	T	7: 29,245,782	T220I	possibly damaging	Het
Zfp846	T	G	9: 20,593,295	H150Q	possibly damaging	Het
Zwilch	A	T	9: 64,161,383	H181Q	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
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'- CCTTATTGAGAGAAATCCCTGTTGG -3'
(R):5'- GTTCATTCCCTTGGGAGGAC -3'

Sequencing Primer
(F):5'- CTCTAGTAAAGAGTCCCCACTG -3'
(R):5'- GGACGAAACCAGCTTAGTCTTGTC -3'

Posted On

2018-02-28