Mutagenetix > Incidental Mutation

Incidental Mutation 'R0497:Grik3'

212572

Institutional Source

Beutler Lab

Gene Symbol

Grik3

Ensembl Gene

ENSMUSG00000001985

Gene Name

glutamate receptor, ionotropic, kainate 3

Synonyms

Glur7, Glur-7

MMRRC Submission

038693-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R0497 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

125384493-125607966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125517303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 49 (N49Y)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030676
AA Change: N49Y

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: N49Y

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

0.0901

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	C	11: 119,909,606 (GRCm39)	V110G	probably damaging	Het
Adcy6	A	C	15: 98,495,606 (GRCm39)		probably null	Het
Adm	A	G	7: 110,228,328 (GRCm39)	T170A	probably benign	Het
Afap1l2	G	T	19: 56,918,641 (GRCm39)	N171K	probably benign	Het
Aph1b	G	T	9: 66,697,900 (GRCm39)	S112*	probably null	Het
Arhgap23	A	G	11: 97,342,989 (GRCm39)	S424G	probably damaging	Het
Asah2	T	A	19: 32,032,031 (GRCm39)	N46I	probably benign	Het
Braf	G	A	6: 39,617,483 (GRCm39)		probably benign	Het
Brd2	C	T	17: 34,333,334 (GRCm39)	R47Q	probably damaging	Het
C2cd5	A	G	6: 142,957,819 (GRCm39)	V972A	probably benign	Het
Car9	T	A	4: 43,511,881 (GRCm39)	L300H	probably damaging	Het
Chmp3	T	C	6: 71,529,395 (GRCm39)	S20P	probably damaging	Het
Chp1	A	G	2: 119,402,263 (GRCm39)	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,334,260 (GRCm39)	I335N	probably damaging	Het
Cntnap4	T	C	8: 113,296,783 (GRCm39)	V6A	probably benign	Het
Ctcf	T	A	8: 106,401,672 (GRCm39)		probably benign	Het
Dennd1b	A	G	1: 138,967,724 (GRCm39)		probably benign	Het
Dnmbp	A	G	19: 43,845,079 (GRCm39)		probably benign	Het
Eef2	T	C	10: 81,017,420 (GRCm39)	F782L	probably benign	Het
Eogt	T	A	6: 97,112,194 (GRCm39)	Y153F	probably benign	Het
Fam81a	G	T	9: 70,003,401 (GRCm39)	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,174,228 (GRCm39)	T2162S	probably benign	Het
Fcgbpl1	T	A	7: 27,846,890 (GRCm39)	C1158S	probably damaging	Het
Gas6	T	C	8: 13,520,387 (GRCm39)	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,571,248 (GRCm39)	L77Q	probably damaging	Het
Gucy2e	A	T	11: 69,114,985 (GRCm39)	V974E	probably damaging	Het
Helz2	A	G	2: 180,871,449 (GRCm39)	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,775,716 (GRCm39)	279	probably null	Het
Krt73	A	G	15: 101,710,665 (GRCm39)	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,158,772 (GRCm39)		probably benign	Het
Lrrc15	A	T	16: 30,091,710 (GRCm39)	V543E	probably damaging	Het
Med13	G	A	11: 86,167,809 (GRCm39)		probably benign	Het
Med25	T	C	7: 44,541,524 (GRCm39)	D60G	probably damaging	Het
Mgam	T	A	6: 40,641,826 (GRCm39)	Y560N	probably damaging	Het
Mlkl	A	G	8: 112,054,505 (GRCm39)	Y211H	probably damaging	Het
Msl2	A	G	9: 100,978,493 (GRCm39)	N289S	probably benign	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Omt2b	T	C	9: 78,235,513 (GRCm39)		probably benign	Het
Or4k37	A	G	2: 111,159,175 (GRCm39)	D137G	probably benign	Het
Pald1	A	G	10: 61,177,094 (GRCm39)	L652P	probably damaging	Het
Pard3b	T	A	1: 62,479,167 (GRCm39)		probably null	Het
Prdm15	G	A	16: 97,595,534 (GRCm39)	T1098I	possibly damaging	Het
Rock2	A	G	12: 17,004,954 (GRCm39)	T436A	probably benign	Het
Sema4c	A	T	1: 36,588,689 (GRCm39)	D812E	probably benign	Het
Sla	A	T	15: 66,664,098 (GRCm39)	I91K	probably benign	Het
Slc22a16	T	G	10: 40,460,963 (GRCm39)	M255R	probably damaging	Het
Slc49a4	A	T	16: 35,555,974 (GRCm39)	V162D	probably benign	Het
Smg8	C	T	11: 86,976,910 (GRCm39)	D224N	possibly damaging	Het
Spdef	A	T	17: 27,937,032 (GRCm39)	D190E	probably benign	Het
Taok1	A	G	11: 77,464,630 (GRCm39)	I152T	probably damaging	Het
Tmem220	A	G	11: 66,916,748 (GRCm39)	D36G	probably damaging	Het
Tmem235	A	C	11: 117,755,177 (GRCm39)	I210L	probably benign	Het
Tmem266	C	T	9: 55,288,168 (GRCm39)		probably null	Het
Tmprss12	A	G	15: 100,178,920 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Usp38	T	A	8: 81,711,053 (GRCm39)		probably benign	Het
Usp44	C	T	10: 93,682,668 (GRCm39)	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,990,118 (GRCm39)	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,367,953 (GRCm39)	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,595,394 (GRCm39)	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,239,755 (GRCm39)	Y269*	probably null	Het
Zan	C	T	5: 137,410,938 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,306 (GRCm39)	V192L	probably benign	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,378,299 (GRCm39)		probably benign	Het
Zhx3	A	T	2: 160,621,914 (GRCm39)	L751*	probably null	Het
Znfx1	T	A	2: 166,897,331 (GRCm39)	Q531L	probably benign	Het

Other mutations in Grik3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Grik3	APN	4	125,526,208 (GRCm39)	missense	probably benign
IGL01534:Grik3	APN	4	125,579,983 (GRCm39)	missense	probably damaging	1.00
IGL01538:Grik3	APN	4	125,587,829 (GRCm39)	missense	possibly damaging	0.90
IGL02276:Grik3	APN	4	125,517,295 (GRCm39)	missense	possibly damaging	0.86
IGL02323:Grik3	APN	4	125,579,783 (GRCm39)	splice site	probably benign
IGL02475:Grik3	APN	4	125,544,310 (GRCm39)	missense	probably benign
IGL03198:Grik3	APN	4	125,553,555 (GRCm39)	missense	probably benign	0.25
IGL03307:Grik3	APN	4	125,535,347 (GRCm39)	missense	possibly damaging	0.91
R0054:Grik3	UTSW	4	125,517,368 (GRCm39)	missense	probably damaging	1.00
R0054:Grik3	UTSW	4	125,517,368 (GRCm39)	missense	probably damaging	1.00
R0116:Grik3	UTSW	4	125,564,349 (GRCm39)	missense	probably benign	0.01
R0208:Grik3	UTSW	4	125,579,958 (GRCm39)	missense	probably damaging	1.00
R1295:Grik3	UTSW	4	125,598,357 (GRCm39)	splice site	probably benign
R1296:Grik3	UTSW	4	125,598,357 (GRCm39)	splice site	probably benign
R1515:Grik3	UTSW	4	125,564,521 (GRCm39)	missense	probably benign	0.37
R1559:Grik3	UTSW	4	125,601,790 (GRCm39)	missense	probably benign	0.16
R1617:Grik3	UTSW	4	125,584,985 (GRCm39)	missense	probably benign
R1848:Grik3	UTSW	4	125,587,931 (GRCm39)	missense	probably damaging	1.00
R2903:Grik3	UTSW	4	125,564,437 (GRCm39)	missense	probably damaging	1.00
R3440:Grik3	UTSW	4	125,587,764 (GRCm39)	missense	probably damaging	1.00
R3440:Grik3	UTSW	4	125,587,763 (GRCm39)	missense	probably damaging	1.00
R3442:Grik3	UTSW	4	125,587,764 (GRCm39)	missense	probably damaging	1.00
R3442:Grik3	UTSW	4	125,587,763 (GRCm39)	missense	probably damaging	1.00
R3842:Grik3	UTSW	4	125,587,747 (GRCm39)	splice site	probably benign
R4649:Grik3	UTSW	4	125,544,278 (GRCm39)	missense	probably damaging	1.00
R4841:Grik3	UTSW	4	125,584,969 (GRCm39)	missense	probably damaging	1.00
R4842:Grik3	UTSW	4	125,584,969 (GRCm39)	missense	probably damaging	1.00
R5093:Grik3	UTSW	4	125,564,382 (GRCm39)	missense	probably benign
R5318:Grik3	UTSW	4	125,587,929 (GRCm39)	missense	probably damaging	0.96
R5549:Grik3	UTSW	4	125,579,838 (GRCm39)	missense	possibly damaging	0.95
R6221:Grik3	UTSW	4	125,598,916 (GRCm39)	missense	probably damaging	0.99
R6226:Grik3	UTSW	4	125,553,582 (GRCm39)	missense	probably benign	0.04
R6306:Grik3	UTSW	4	125,526,205 (GRCm39)	missense	probably benign	0.01
R6672:Grik3	UTSW	4	125,517,309 (GRCm39)	missense	probably benign	0.08
R6682:Grik3	UTSW	4	125,544,259 (GRCm39)	missense	probably damaging	1.00
R6783:Grik3	UTSW	4	125,526,093 (GRCm39)	missense	probably benign	0.01
R7390:Grik3	UTSW	4	125,543,532 (GRCm39)	missense	probably damaging	1.00
R7604:Grik3	UTSW	4	125,517,428 (GRCm39)	missense	probably damaging	0.97
R7790:Grik3	UTSW	4	125,579,812 (GRCm39)	missense	probably damaging	1.00
R7822:Grik3	UTSW	4	125,550,190 (GRCm39)	critical splice donor site	probably null
R7952:Grik3	UTSW	4	125,598,340 (GRCm39)	missense	probably damaging	1.00
R8418:Grik3	UTSW	4	125,579,835 (GRCm39)	missense	possibly damaging	0.95
R8769:Grik3	UTSW	4	125,550,166 (GRCm39)	missense	probably damaging	1.00
R9030:Grik3	UTSW	4	125,526,185 (GRCm39)	missense	probably benign	0.24
R9243:Grik3	UTSW	4	125,601,690 (GRCm39)	missense	probably benign	0.00
R9792:Grik3	UTSW	4	125,526,315 (GRCm39)	missense	probably damaging	0.97
R9793:Grik3	UTSW	4	125,526,315 (GRCm39)	missense	probably damaging	0.97
Z1177:Grik3	UTSW	4	125,544,299 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GAGTGTCTTTCCCGCCAGTGTC -3'
(R):5'- CGCCCACAGAGTGAAGATCTGC -3'

Sequencing Primer
(F):5'- gcaagtgaatcatattttcgtctcc -3'
(R):5'- GTGAAGATCTGCTCACTCACC -3'

Posted On

2014-07-09