Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03402:Grik5'

421471

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grik5

Ensembl Gene

ENSMUSG00000003378

Gene Name

glutamate receptor, ionotropic, kainate 5 (gamma 2)

Synonyms

KA2, GluRgamma2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

IGL03402

Quality Score

Status

Chromosome

Chromosomal Location

24709274-24771771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24714894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 700 (V700E)

Ref Sequence

ENSEMBL: ENSMUSP00000003468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003468] [ENSMUST00000205328] [ENSMUST00000206134]

AlphaFold

Q61626

Predicted Effect

probably damaging
Transcript: ENSMUST00000003468
AA Change: V700E

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

SMART Domains

Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: V700E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	40	381	3.4e-64	PFAM
PBPe	416	785	3.7e-122	SMART
Lig_chan-Glu_bd	426	490	1.65e-29	SMART
transmembrane domain	804	823	N/A	INTRINSIC
low complexity region	859	872	N/A	INTRINSIC
low complexity region	893	921	N/A	INTRINSIC
low complexity region	962	973	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205328

Predicted Effect

probably benign
Transcript: ENSMUST00000206134

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one allele display abnormal hippocampal synapse function. Mice homozygous for a second allele display decreased thermal nociception, increased startle response and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,216,972 (GRCm39)	H81R	probably benign	Het
Alg10b	A	T	15: 90,112,532 (GRCm39)	K459*	probably null	Het
C8g	A	T	2: 25,388,824 (GRCm39)	*203K	probably null	Het
Cacna1b	T	C	2: 24,652,821 (GRCm39)	E80G	probably damaging	Het
Cdh12	T	A	15: 21,583,826 (GRCm39)	N555K	probably benign	Het
Cenpf	T	A	1: 189,387,273 (GRCm39)	N1669I	probably damaging	Het
Cpsf1	A	G	15: 76,480,203 (GRCm39)		probably null	Het
Ear1	A	G	14: 44,056,575 (GRCm39)	S98P	probably benign	Het
Elfn2	A	T	15: 78,557,670 (GRCm39)	D292E	possibly damaging	Het
Fbxw24	T	C	9: 109,430,316 (GRCm39)	S443G	probably damaging	Het
Fnip2	T	C	3: 79,388,583 (GRCm39)	E716G	possibly damaging	Het
Gabra1	G	T	11: 42,024,345 (GRCm39)	N443K	probably damaging	Het
Ifi27l2a	T	A	12: 103,405,772 (GRCm39)	N162K	probably damaging	Het
Myom2	A	T	8: 15,115,731 (GRCm39)	T49S	probably benign	Het
Obsl1	T	C	1: 75,463,443 (GRCm39)	M1750V	probably benign	Het
Or10g9b	A	T	9: 39,917,802 (GRCm39)	W148R	probably benign	Het
Or2l13b	A	T	16: 19,349,667 (GRCm39)	M1K	probably null	Het
Or2y1	A	T	11: 49,385,873 (GRCm39)	H171L	probably benign	Het
Ppp2r5e	A	G	12: 75,511,667 (GRCm39)	V352A	probably damaging	Het
Prkca	T	A	11: 108,231,489 (GRCm39)	Q63L	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Slfn14	T	C	11: 83,167,139 (GRCm39)	K792R	probably benign	Het
Slfn3	C	T	11: 83,104,257 (GRCm39)	T376M	probably damaging	Het
Snx19	A	T	9: 30,351,430 (GRCm39)	I135F	possibly damaging	Het
Stab2	A	T	10: 86,805,165 (GRCm39)	V271E	probably benign	Het
Trpv1	T	G	11: 73,130,463 (GRCm39)	F190V	possibly damaging	Het
Urb2	T	C	8: 124,756,588 (GRCm39)	V765A	possibly damaging	Het
Vmn2r61	A	G	7: 41,909,679 (GRCm39)	H68R	probably benign	Het
Vps8	T	C	16: 21,267,148 (GRCm39)	I177T	possibly damaging	Het
Zfp810	A	C	9: 22,190,441 (GRCm39)		probably null	Het

Other mutations in Grik5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Grik5	APN	7	24,764,818 (GRCm39)	missense	probably damaging	1.00
IGL00974:Grik5	APN	7	24,713,310 (GRCm39)	missense	probably damaging	1.00
IGL01941:Grik5	APN	7	24,764,607 (GRCm39)	missense	probably damaging	1.00
IGL02642:Grik5	APN	7	24,758,408 (GRCm39)	missense	possibly damaging	0.51
IGL03177:Grik5	APN	7	24,714,879 (GRCm39)	missense	probably damaging	1.00
Griffin	UTSW	7	24,758,502 (GRCm39)	missense	possibly damaging	0.78
G1citation:Grik5	UTSW	7	24,745,780 (GRCm39)	missense	possibly damaging	0.46
PIT4453001:Grik5	UTSW	7	24,710,119 (GRCm39)	missense	probably damaging	0.99
R0077:Grik5	UTSW	7	24,722,805 (GRCm39)	missense	probably damaging	1.00
R0412:Grik5	UTSW	7	24,713,099 (GRCm39)	missense	possibly damaging	0.59
R0427:Grik5	UTSW	7	24,757,923 (GRCm39)	missense	probably benign	0.34
R1191:Grik5	UTSW	7	24,757,750 (GRCm39)	nonsense	probably null
R1830:Grik5	UTSW	7	24,745,726 (GRCm39)	missense	possibly damaging	0.94
R2072:Grik5	UTSW	7	24,714,738 (GRCm39)	missense	possibly damaging	0.92
R2369:Grik5	UTSW	7	24,757,962 (GRCm39)	missense	probably damaging	1.00
R3410:Grik5	UTSW	7	24,762,397 (GRCm39)	missense	probably benign	0.04
R3411:Grik5	UTSW	7	24,762,397 (GRCm39)	missense	probably benign	0.04
R3615:Grik5	UTSW	7	24,721,996 (GRCm39)	missense	probably benign	0.37
R3616:Grik5	UTSW	7	24,721,996 (GRCm39)	missense	probably benign	0.37
R4600:Grik5	UTSW	7	24,767,489 (GRCm39)	missense	probably damaging	0.99
R4658:Grik5	UTSW	7	24,760,152 (GRCm39)	splice site	probably benign
R4735:Grik5	UTSW	7	24,757,713 (GRCm39)	missense	probably damaging	1.00
R4810:Grik5	UTSW	7	24,714,922 (GRCm39)	missense	probably damaging	0.98
R5113:Grik5	UTSW	7	24,714,952 (GRCm39)	missense	probably damaging	1.00
R5120:Grik5	UTSW	7	24,710,065 (GRCm39)	missense	probably damaging	1.00
R5132:Grik5	UTSW	7	24,764,629 (GRCm39)	missense	probably benign	0.02
R5173:Grik5	UTSW	7	24,762,319 (GRCm39)	missense	possibly damaging	0.76
R5186:Grik5	UTSW	7	24,715,244 (GRCm39)	missense	probably damaging	1.00
R5239:Grik5	UTSW	7	24,764,895 (GRCm39)	missense	probably damaging	1.00
R5935:Grik5	UTSW	7	24,758,502 (GRCm39)	missense	possibly damaging	0.78
R6335:Grik5	UTSW	7	24,713,019 (GRCm39)	missense	probably benign
R6609:Grik5	UTSW	7	24,714,951 (GRCm39)	nonsense	probably null
R6760:Grik5	UTSW	7	24,758,364 (GRCm39)	critical splice donor site	probably null
R6820:Grik5	UTSW	7	24,745,780 (GRCm39)	missense	possibly damaging	0.46
R6821:Grik5	UTSW	7	24,745,780 (GRCm39)	missense	possibly damaging	0.46
R6822:Grik5	UTSW	7	24,745,780 (GRCm39)	missense	possibly damaging	0.46
R6824:Grik5	UTSW	7	24,745,780 (GRCm39)	missense	possibly damaging	0.46
R7173:Grik5	UTSW	7	24,767,587 (GRCm39)	missense	probably damaging	1.00
R7230:Grik5	UTSW	7	24,722,495 (GRCm39)	missense	probably damaging	1.00
R7555:Grik5	UTSW	7	24,760,022 (GRCm39)	missense	probably benign
R7560:Grik5	UTSW	7	24,757,951 (GRCm39)	missense	probably damaging	0.99
R7571:Grik5	UTSW	7	24,713,310 (GRCm39)	missense	possibly damaging	0.87
R8228:Grik5	UTSW	7	24,745,735 (GRCm39)	missense	possibly damaging	0.93
R8228:Grik5	UTSW	7	24,709,933 (GRCm39)	missense	probably damaging	1.00
R8681:Grik5	UTSW	7	24,709,897 (GRCm39)	missense	probably benign	0.06
R8879:Grik5	UTSW	7	24,722,489 (GRCm39)	missense	possibly damaging	0.95
R8933:Grik5	UTSW	7	24,722,743 (GRCm39)	missense	probably benign	0.11
R9129:Grik5	UTSW	7	24,767,429 (GRCm39)	splice site	probably benign
R9130:Grik5	UTSW	7	24,767,429 (GRCm39)	splice site	probably benign
R9154:Grik5	UTSW	7	24,758,403 (GRCm39)	missense	probably damaging	1.00
R9317:Grik5	UTSW	7	24,745,660 (GRCm39)	missense	probably damaging	0.99
R9355:Grik5	UTSW	7	24,767,597 (GRCm39)	missense	possibly damaging	0.82
R9406:Grik5	UTSW	7	24,757,969 (GRCm39)	missense	probably benign	0.00
X0017:Grik5	UTSW	7	24,760,013 (GRCm39)	missense	probably damaging	1.00
Z1176:Grik5	UTSW	7	24,713,229 (GRCm39)	missense	probably damaging	0.98
Z1177:Grik5	UTSW	7	24,715,250 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02