Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Grik5'

181157

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grik5

Ensembl Gene

ENSMUSG00000003378

Gene Name

glutamate receptor, ionotropic, kainate 5 (gamma 2)

Synonyms

GluRgamma2, KA2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

25009849-25072346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25065182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 152 (I152N)

Ref Sequence

ENSEMBL: ENSMUSP00000146227 (fasta)

Gene Model

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

AlphaFold

Q61626

Predicted Effect

probably damaging
Transcript: ENSMUST00000003468
AA Change: I152N

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

SMART Domains

Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: I152N

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

noncoding transcript
Transcript: ENSMUST00000205661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206095

Predicted Effect

probably damaging
Transcript: ENSMUST00000206134
AA Change: I152N

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,044,801	L123Q	probably benign	Het
Abca2	C	T	2: 25,443,095	S1602F	probably benign	Het
Abcc9	C	A	6: 142,605,904	C1191F	probably damaging	Het
Adam3	G	T	8: 24,681,446		probably benign	Het
Aldh1l1	G	T	6: 90,562,695	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,485,937	N57D	possibly damaging	Het
Asic1	A	T	15: 99,699,101	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,403,898	I233T	probably benign	Het
Ccdc129	A	G	6: 55,968,045	R584G	probably benign	Het
Ccdc185	G	T	1: 182,748,204	Q307K	probably benign	Het
Cep120	T	C	18: 53,723,148	D399G	probably benign	Het
Cnn2	G	A	10: 79,992,554	V122M	probably benign	Het
Dgkd	T	C	1: 87,924,559	S472P	probably damaging	Het
Dock5	A	C	14: 67,812,232	I701S	probably damaging	Het
Efl1	A	G	7: 82,697,976	E570G	probably benign	Het
Eln	G	A	5: 134,718,170		probably benign	Het
Fat2	A	G	11: 55,312,005	V81A	probably benign	Het
Fbxw21	T	G	9: 109,148,156	I162L	probably benign	Het
Fhl2	G	A	1: 43,131,672	Q161*	probably null	Het
Gabrg2	A	G	11: 41,971,721	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm7714	A	G	5: 88,282,442	S66G	probably benign	Het
H2-Ab1	A	T	17: 34,267,434	K156*	probably null	Het
Hecw1	T	C	13: 14,316,310	Y699C	probably benign	Het
Ipo9	A	C	1: 135,408,073	V202G	possibly damaging	Het
Jmjd6	A	T	11: 116,841,358		probably null	Het
Lama5	A	G	2: 180,192,392	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,952,261		probably benign	Het
Mavs	T	C	2: 131,246,605	V443A	probably damaging	Het
Mpdz	A	T	4: 81,286,387	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,638,584	S2059A	probably benign	Het
Olfr1251	A	T	2: 89,667,468	C139*	probably null	Het
Otud7b	G	T	3: 96,155,459	G672C	probably benign	Het
Palld	T	A	8: 61,535,700	T572S	probably benign	Het
Pde6b	T	A	5: 108,423,036	V379E	probably benign	Het
Peak1	A	G	9: 56,258,775	V623A	probably damaging	Het
Prr12	C	T	7: 45,048,659		probably benign	Het
Rxra	T	C	2: 27,754,241	I315T	probably damaging	Het
Slc11a1	C	T	1: 74,377,179	A55V	probably damaging	Het
Slitrk3	T	C	3: 73,051,071	N123D	possibly damaging	Het
Spcs1	A	G	14: 31,000,872	M82T	probably damaging	Het
Sspo	A	G	6: 48,495,182	E113G	probably benign	Het
Syne2	A	G	12: 75,967,220	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,634,660	S310P	probably benign	Het
Ubp1	T	C	9: 113,956,758	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,293,699	C169*	probably null	Het
Vmn1r223	T	A	13: 23,250,237	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 108,995,954	I710N	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdr26	A	G	1: 181,211,070		probably benign	Het
Wnt7a	A	G	6: 91,394,663	F106L	probably benign	Het
Zfp940	C	T	7: 29,846,870	V34M	probably damaging	Het

Other mutations in Grik5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Grik5	APN	7	25065393	missense	probably damaging	1.00
IGL00974:Grik5	APN	7	25013885	missense	probably damaging	1.00
IGL02642:Grik5	APN	7	25058983	missense	possibly damaging	0.51
IGL03177:Grik5	APN	7	25015454	missense	probably damaging	1.00
IGL03402:Grik5	APN	7	25015469	missense	probably damaging	1.00
Griffin	UTSW	7	25059077	missense	possibly damaging	0.78
G1citation:Grik5	UTSW	7	25046355	missense	possibly damaging	0.46
PIT4453001:Grik5	UTSW	7	25010694	missense	probably damaging	0.99
R0077:Grik5	UTSW	7	25023380	missense	probably damaging	1.00
R0412:Grik5	UTSW	7	25013674	missense	possibly damaging	0.59
R0427:Grik5	UTSW	7	25058498	missense	probably benign	0.34
R1191:Grik5	UTSW	7	25058325	nonsense	probably null
R1830:Grik5	UTSW	7	25046301	missense	possibly damaging	0.94
R2072:Grik5	UTSW	7	25015313	missense	possibly damaging	0.92
R2369:Grik5	UTSW	7	25058537	missense	probably damaging	1.00
R3410:Grik5	UTSW	7	25062972	missense	probably benign	0.04
R3411:Grik5	UTSW	7	25062972	missense	probably benign	0.04
R3615:Grik5	UTSW	7	25022571	missense	probably benign	0.37
R3616:Grik5	UTSW	7	25022571	missense	probably benign	0.37
R4600:Grik5	UTSW	7	25068064	missense	probably damaging	0.99
R4658:Grik5	UTSW	7	25060727	splice site	probably benign
R4735:Grik5	UTSW	7	25058288	missense	probably damaging	1.00
R4810:Grik5	UTSW	7	25015497	missense	probably damaging	0.98
R5113:Grik5	UTSW	7	25015527	missense	probably damaging	1.00
R5120:Grik5	UTSW	7	25010640	missense	probably damaging	1.00
R5132:Grik5	UTSW	7	25065204	missense	probably benign	0.02
R5173:Grik5	UTSW	7	25062894	missense	possibly damaging	0.76
R5186:Grik5	UTSW	7	25015819	missense	probably damaging	1.00
R5239:Grik5	UTSW	7	25065470	missense	probably damaging	1.00
R5935:Grik5	UTSW	7	25059077	missense	possibly damaging	0.78
R6335:Grik5	UTSW	7	25013594	missense	probably benign
R6609:Grik5	UTSW	7	25015526	nonsense	probably null
R6760:Grik5	UTSW	7	25058939	critical splice donor site	probably null
R6820:Grik5	UTSW	7	25046355	missense	possibly damaging	0.46
R6821:Grik5	UTSW	7	25046355	missense	possibly damaging	0.46
R6822:Grik5	UTSW	7	25046355	missense	possibly damaging	0.46
R6824:Grik5	UTSW	7	25046355	missense	possibly damaging	0.46
R7173:Grik5	UTSW	7	25068162	missense	probably damaging	1.00
R7230:Grik5	UTSW	7	25023070	missense	probably damaging	1.00
R7555:Grik5	UTSW	7	25060597	missense	probably benign
R7560:Grik5	UTSW	7	25058526	missense	probably damaging	0.99
R7571:Grik5	UTSW	7	25013885	missense	possibly damaging	0.87
R8228:Grik5	UTSW	7	25010508	missense	probably damaging	1.00
R8228:Grik5	UTSW	7	25046310	missense	possibly damaging	0.93
R8681:Grik5	UTSW	7	25010472	missense	probably benign	0.06
R8879:Grik5	UTSW	7	25023064	missense	possibly damaging	0.95
R8933:Grik5	UTSW	7	25023318	missense	probably benign	0.11
R9129:Grik5	UTSW	7	25068004	splice site	probably benign
R9130:Grik5	UTSW	7	25068004	splice site	probably benign
R9154:Grik5	UTSW	7	25058978	missense	probably damaging	1.00
R9317:Grik5	UTSW	7	25046235	missense	probably damaging	0.99
R9355:Grik5	UTSW	7	25068172	missense	possibly damaging	0.82
R9406:Grik5	UTSW	7	25058544	missense	probably benign	0.00
X0017:Grik5	UTSW	7	25060588	missense	probably damaging	1.00
Z1176:Grik5	UTSW	7	25013804	missense	probably damaging	0.98
Z1177:Grik5	UTSW	7	25015825	missense	probably damaging	1.00

Posted On

2014-05-07