Mutagenetix > Incidental Mutation

Incidental Mutation 'R9792:Grik3'

734667

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?

Probably non essential (E-score: 0.126) question?

Stock #

R9792 (G1)

Quality Score

166.009

Status

Not validated

Chromosome

Chromosomal Location

125384493-125607966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125526315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 183 (T183A)

Ref Sequence

ENSEMBL: ENSMUSP00000030676 (fasta)

Gene Model

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

AlphaFold

B1AS29

Predicted Effect

probably damaging
Transcript: ENSMUST00000030676
AA Change: T183A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: T183A

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,719 (GRCm39)	D99G	unknown	Het
Add2	A	T	6: 86,078,135 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,874,822 (GRCm39)	D453G	possibly damaging	Het
Agrn	A	G	4: 156,261,129 (GRCm39)	V656A	probably benign	Het
Alpk3	T	C	7: 80,750,881 (GRCm39)		probably null	Het
Ano1	A	T	7: 144,175,434 (GRCm39)	W495R	probably damaging	Het
Apc	T	A	18: 34,447,628 (GRCm39)	L1508Q	probably damaging	Het
Bbs12	C	T	3: 37,374,224 (GRCm39)	T224I	possibly damaging	Het
Cald1	A	T	6: 34,723,071 (GRCm39)	M52L		Het
Calhm6	T	C	10: 34,002,544 (GRCm39)	I180V	probably damaging	Het
Ccdc9b	T	C	2: 118,587,784 (GRCm39)	S517G	unknown	Het
Cdk11b	T	A	4: 155,732,378 (GRCm39)	H510Q	unknown	Het
Cdk12	T	A	11: 98,102,051 (GRCm39)	D636E	unknown	Het
Cfap53	A	G	18: 74,438,741 (GRCm39)	D306G	probably benign	Het
Cnnm1	T	C	19: 43,482,252 (GRCm39)		probably null	Het
Cnrip1	G	A	11: 17,004,812 (GRCm39)	A121T	probably benign	Het
Cntnap5c	A	T	17: 58,409,192 (GRCm39)	T477S	probably benign	Het
Cyp2c54	G	C	19: 40,034,525 (GRCm39)	P382A	probably damaging	Het
Cyp4a30b	A	G	4: 115,316,167 (GRCm39)	T298A	probably benign	Het
Dmkn	A	T	7: 30,464,845 (GRCm39)	N273Y	unknown	Het
Dsp	A	G	13: 38,379,494 (GRCm39)	T2080A	possibly damaging	Het
Ermard	T	C	17: 15,281,441 (GRCm39)	L617P	probably damaging	Het
Gstt1	T	C	10: 75,634,391 (GRCm39)		probably benign	Het
Hao1	T	A	2: 134,372,552 (GRCm39)	Y152F	possibly damaging	Het
Hdac7	T	C	15: 97,698,671 (GRCm39)	T629A	possibly damaging	Het
Hmcn1	G	A	1: 150,608,689 (GRCm39)	P1498S	possibly damaging	Het
Iqcf3	T	A	9: 106,434,714 (GRCm39)	K41N	probably benign	Het
Lrriq3	T	C	3: 154,893,313 (GRCm39)	M338T	probably benign	Het
Ltbp2	A	T	12: 84,876,128 (GRCm39)	I493N	probably damaging	Het
Map1a	T	C	2: 121,121,304 (GRCm39)		probably null	Het
Mzf1	T	C	7: 12,786,131 (GRCm39)	T267A	probably benign	Het
N4bp2l2	A	G	5: 150,584,897 (GRCm39)	I19T	probably benign	Het
Ncoa2	G	T	1: 13,260,355 (GRCm39)	Q107K	possibly damaging	Het
Nin	A	T	12: 70,094,009 (GRCm39)	I605N		Het
Nr1h4	T	G	10: 89,314,651 (GRCm39)	T286P	probably benign	Het
Nsd2	A	G	5: 34,003,489 (GRCm39)	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,847,345 (GRCm39)	S131P	probably damaging	Het
Or4a78	T	C	2: 89,497,811 (GRCm39)	I140V	probably benign	Het
Or4f14c	T	C	2: 111,941,330 (GRCm39)	H89R	probably benign	Het
Or52m1	G	A	7: 102,289,788 (GRCm39)	V112I	probably benign	Het
Or5b113	A	T	19: 13,342,514 (GRCm39)	H174L	probably damaging	Het
Or8h9	T	A	2: 86,789,119 (GRCm39)	I228F	probably damaging	Het
Otud7a	C	T	7: 63,378,845 (GRCm39)	R232W	probably damaging	Het
Pacsin3	C	A	2: 91,094,160 (GRCm39)	A363D	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Pcnx2	A	G	8: 126,534,820 (GRCm39)	F1270L	probably damaging	Het
Pds5a	T	C	5: 65,795,989 (GRCm39)	M634V	probably benign	Het
Pkd1	A	G	17: 24,800,172 (GRCm39)	T2978A	probably benign	Het
Pkhd1l1	T	C	15: 44,406,983 (GRCm39)	S2407P	probably benign	Het
Polr2i	T	C	7: 29,932,190 (GRCm39)	Y44H	probably damaging	Het
Ppip5k2	A	T	1: 97,671,822 (GRCm39)	Y489*	probably null	Het
Ppp3r1	C	A	11: 17,132,117 (GRCm39)	A5E	probably benign	Het
Pramel60	C	A	5: 95,339,810 (GRCm39)	H110N	probably damaging	Het
Rasgrp1	T	C	2: 117,118,429 (GRCm39)	D520G	probably benign	Het
Rex2	A	C	4: 147,142,039 (GRCm39)	N176H	probably damaging	Het
Rsl1d1	T	C	16: 11,017,300 (GRCm39)	N194S	possibly damaging	Het
Sidt2	A	G	9: 45,850,563 (GRCm39)	Y851H	probably damaging	Het
Slc5a8	T	C	10: 88,757,591 (GRCm39)	I527T	possibly damaging	Het
Slc6a7	C	A	18: 61,138,866 (GRCm39)	R214L	probably benign	Het
Stx7	T	C	10: 24,057,475 (GRCm39)	L167P	probably damaging	Het
Tas2r120	A	T	6: 132,634,528 (GRCm39)	K203N	possibly damaging	Het
Tbc1d22a	T	C	15: 86,119,839 (GRCm39)	L81P	probably damaging	Het
Tert	A	G	13: 73,792,442 (GRCm39)	E903G	probably benign	Het
Tpm4	A	G	8: 72,905,663 (GRCm39)	I248V	probably benign	Het
Trim42	A	G	9: 97,245,429 (GRCm39)	I457T	probably damaging	Het
Ttc23l	T	A	15: 10,537,731 (GRCm39)	I180F	probably benign	Het
Usp9y	T	C	Y: 1,364,679 (GRCm39)	M1045V	probably benign	Het
Vim	A	G	2: 13,579,598 (GRCm39)	D119G	probably benign	Het
Vmn1r82	A	T	7: 12,039,083 (GRCm39)	M119L	probably benign	Het
Vmn2r118	T	C	17: 55,899,496 (GRCm39)	T803A	probably damaging	Het
Vwa3a	C	A	7: 120,383,307 (GRCm39)	A636D	probably damaging	Het
Zbtb7a	G	A	10: 80,980,378 (GRCm39)	A191T	probably benign	Het
Zfp819	A	G	7: 43,261,519 (GRCm39)	H62R	possibly damaging	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
R0497:Grik3	UTSW	4	125,517,303 (GRCm39)	missense	possibly damaging	0.82
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
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'- AGTCCATTTGCAACGCCTTG -3'
(R):5'- TGTGAGCCAGGCTAGGATAG -3'

Sequencing Primer
(F):5'- TGCAACGCCTTGGAGGTTC -3'
(R):5'- CCAGGCTAGGATAGAATAAGGTGTGC -3'

Posted On

2022-11-14