Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03283:Grik2'

415639

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grik2

Ensembl Gene

ENSMUSG00000056073

Gene Name

glutamate receptor, ionotropic, kainate 2 (beta 2)

Synonyms

Glur6, C130030K03Rik, Glurbeta2, Glur-6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03283

Quality Score

Status

Chromosome

Chromosomal Location

48970929-49664862 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49454365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 50 (M50K)

Ref Sequence

ENSEMBL: ENSMUSP00000151372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079751] [ENSMUST00000105484] [ENSMUST00000218441] [ENSMUST00000218598] [ENSMUST00000220263] [ENSMUST00000218823]

AlphaFold

P39087

Predicted Effect

probably benign
Transcript: ENSMUST00000079751
AA Change: M50K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078687
Gene: ENSMUSG00000056073
AA Change: M50K

Domain	Start	End	E-Value	Type
Pfam:Peripla_BP_6	44	386	1.8e-11	PFAM
Pfam:ANF_receptor	52	395	8.3e-75	PFAM
PBPe	432	801	5.6e-131	SMART
Lig_chan-Glu_bd	442	507	3.81e-34	SMART
Blast:PBPe	809	855	2e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000105483
AA Change: M50K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101123
Gene: ENSMUSG00000056073
AA Change: M50K

Domain	Start	End	E-Value	Type
Pfam:Peripla_BP_6	44	298	3e-11	PFAM
Pfam:ANF_receptor	52	334	3.5e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105484
AA Change: M50K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101124
Gene: ENSMUSG00000056073
AA Change: M50K

Domain	Start	End	E-Value	Type
Pfam:Peripla_BP_6	46	386	5e-11	PFAM
Pfam:ANF_receptor	52	395	9.7e-80	PFAM
PBPe	432	801	5.6e-131	SMART
Lig_chan-Glu_bd	442	507	3.81e-34	SMART
Blast:PBPe	809	855	1e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000105485
AA Change: M50K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101125
Gene: ENSMUSG00000056073
AA Change: M50K

Domain	Start	End	E-Value	Type
Pfam:Peripla_BP_6	44	386	1.8e-11	PFAM
Pfam:ANF_receptor	52	395	8.3e-75	PFAM
PBPe	432	801	5.6e-131	SMART
Lig_chan-Glu_bd	442	507	3.81e-34	SMART
Blast:PBPe	809	855	2e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000105486
AA Change: M50K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101126
Gene: ENSMUSG00000056073
AA Change: M50K

Domain	Start	End	E-Value	Type
Pfam:Peripla_BP_6	44	386	3.8e-11	PFAM
Pfam:ANF_receptor	52	395	1.5e-74	PFAM
PBPe	432	801	5.6e-131	SMART
Lig_chan-Glu_bd	442	507	3.81e-34	SMART
Blast:PBPe	809	855	6e-13	BLAST
low complexity region	875	891	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105487
AA Change: M50K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101127
Gene: ENSMUSG00000056073
AA Change: M50K

Domain	Start	End	E-Value	Type
Pfam:Peripla_BP_6	46	386	5e-11	PFAM
Pfam:ANF_receptor	52	395	9.7e-80	PFAM
PBPe	432	801	5.6e-131	SMART
Lig_chan-Glu_bd	442	507	3.81e-34	SMART
Blast:PBPe	809	855	1e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000218441
AA Change: M50K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000218598
AA Change: M50K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000220263
AA Change: M50K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000218823
AA Change: M50K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

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. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hippocampal neurons with reduced sensitivity to kainate and reduced susceptibility to the seizure-inducing effects of kainate administration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicdl2	A	G	17: 23,886,155 (GRCm39)	E361G	probably damaging	Het
Cd163	A	G	6: 124,286,158 (GRCm39)	D236G	possibly damaging	Het
Cep76	A	T	18: 67,773,139 (GRCm39)	I53N	possibly damaging	Het
Cfap43	A	G	19: 47,779,851 (GRCm39)		probably benign	Het
Champ1	T	C	8: 13,928,786 (GRCm39)	S315P	probably benign	Het
Ctdsp2	A	G	10: 126,832,266 (GRCm39)	T91A	probably benign	Het
Cyp4a32	G	T	4: 115,468,280 (GRCm39)	K283N	possibly damaging	Het
Dgki	A	G	6: 36,914,246 (GRCm39)		probably benign	Het
Fads2b	A	C	2: 85,320,751 (GRCm39)	F351V	probably damaging	Het
Gabrr2	A	G	4: 33,082,364 (GRCm39)		probably benign	Het
Garin4	C	T	1: 190,895,029 (GRCm39)	R538H	probably benign	Het
Gm5414	G	T	15: 101,535,522 (GRCm39)	Q188K	probably damaging	Het
Muc5ac	A	G	7: 141,367,518 (GRCm39)	M2980V	probably benign	Het
Pafah2	C	T	4: 134,145,408 (GRCm39)	T264M	probably damaging	Het
Tacc2	A	G	7: 130,343,996 (GRCm39)	M2552V	possibly damaging	Het
Usp3	C	T	9: 66,469,831 (GRCm39)		probably null	Het

Other mutations in Grik2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Grik2	APN	10	49,232,024 (GRCm39)	missense	possibly damaging	0.95
IGL00979:Grik2	APN	10	49,232,034 (GRCm39)	missense	probably damaging	1.00
IGL01012:Grik2	APN	10	49,149,052 (GRCm39)	missense	probably damaging	1.00
IGL01302:Grik2	APN	10	49,120,426 (GRCm39)	missense	probably damaging	0.99
IGL01657:Grik2	APN	10	49,404,082 (GRCm39)	critical splice donor site	probably null
IGL02162:Grik2	APN	10	49,298,671 (GRCm39)	missense	possibly damaging	0.77
IGL02317:Grik2	APN	10	49,298,711 (GRCm39)	missense	probably benign	0.16
IGL02512:Grik2	APN	10	49,232,008 (GRCm39)	missense	probably benign	0.00
IGL02650:Grik2	APN	10	48,977,331 (GRCm39)	missense	probably benign	0.03
BB004:Grik2	UTSW	10	49,116,890 (GRCm39)	missense	probably damaging	1.00
BB014:Grik2	UTSW	10	49,116,890 (GRCm39)	missense	probably damaging	1.00
R0325:Grik2	UTSW	10	49,116,821 (GRCm39)	missense	probably damaging	1.00
R0492:Grik2	UTSW	10	48,977,260 (GRCm39)	missense	probably damaging	0.99
R0601:Grik2	UTSW	10	49,298,693 (GRCm39)	missense	probably damaging	1.00
R0844:Grik2	UTSW	10	48,977,211 (GRCm39)	missense	possibly damaging	0.81
R1333:Grik2	UTSW	10	49,404,087 (GRCm39)	missense	probably damaging	0.98
R1499:Grik2	UTSW	10	49,008,871 (GRCm39)	missense	probably damaging	1.00
R1660:Grik2	UTSW	10	49,120,439 (GRCm39)	nonsense	probably null
R1721:Grik2	UTSW	10	49,399,842 (GRCm39)	missense	possibly damaging	0.93
R1966:Grik2	UTSW	10	49,232,005 (GRCm39)	missense	probably damaging	1.00
R1974:Grik2	UTSW	10	49,008,923 (GRCm39)	missense	possibly damaging	0.85
R2246:Grik2	UTSW	10	49,411,532 (GRCm39)	missense	probably damaging	1.00
R3103:Grik2	UTSW	10	49,116,868 (GRCm39)	missense	probably damaging	1.00
R3974:Grik2	UTSW	10	49,298,750 (GRCm39)	missense	probably damaging	1.00
R4592:Grik2	UTSW	10	49,298,711 (GRCm39)	missense	possibly damaging	0.48
R4658:Grik2	UTSW	10	49,399,888 (GRCm39)	missense	possibly damaging	0.71
R4748:Grik2	UTSW	10	49,411,437 (GRCm39)	missense	possibly damaging	0.87
R4935:Grik2	UTSW	10	49,116,826 (GRCm39)	missense	probably damaging	1.00
R4977:Grik2	UTSW	10	49,008,841 (GRCm39)	missense	probably damaging	1.00
R5103:Grik2	UTSW	10	49,372,205 (GRCm39)	missense	probably benign	0.33
R5330:Grik2	UTSW	10	49,008,867 (GRCm39)	missense	probably damaging	1.00
R5331:Grik2	UTSW	10	49,008,867 (GRCm39)	missense	probably damaging	1.00
R5736:Grik2	UTSW	10	49,280,506 (GRCm39)	missense	probably damaging	0.96
R5740:Grik2	UTSW	10	48,989,573 (GRCm39)	missense	probably damaging	0.99
R5747:Grik2	UTSW	10	49,399,870 (GRCm39)	missense	probably benign
R6015:Grik2	UTSW	10	49,399,959 (GRCm39)	splice site	probably null
R6311:Grik2	UTSW	10	49,454,234 (GRCm39)	missense	probably damaging	0.98
R6474:Grik2	UTSW	10	49,008,776 (GRCm39)	missense	probably benign
R6504:Grik2	UTSW	10	49,232,198 (GRCm39)	missense	probably damaging	1.00
R6591:Grik2	UTSW	10	49,149,021 (GRCm39)	nonsense	probably null
R6691:Grik2	UTSW	10	49,149,021 (GRCm39)	nonsense	probably null
R6776:Grik2	UTSW	10	49,232,085 (GRCm39)	missense	probably damaging	1.00
R7015:Grik2	UTSW	10	49,411,532 (GRCm39)	missense	probably damaging	1.00
R7094:Grik2	UTSW	10	49,232,012 (GRCm39)	missense	possibly damaging	0.75
R7153:Grik2	UTSW	10	49,411,463 (GRCm39)	missense	probably benign	0.00
R7229:Grik2	UTSW	10	48,977,512 (GRCm39)	splice site	probably null
R7402:Grik2	UTSW	10	49,411,493 (GRCm39)	missense	probably damaging	1.00
R7473:Grik2	UTSW	10	48,989,618 (GRCm39)	missense	probably benign	0.22
R7514:Grik2	UTSW	10	49,399,904 (GRCm39)	missense	probably damaging	0.99
R7526:Grik2	UTSW	10	49,399,918 (GRCm39)	missense	possibly damaging	0.56
R7657:Grik2	UTSW	10	49,659,247 (GRCm39)	missense	probably benign	0.11
R7681:Grik2	UTSW	10	49,120,476 (GRCm39)	missense	probably damaging	1.00
R7714:Grik2	UTSW	10	49,295,792 (GRCm39)	missense	probably damaging	0.97
R7927:Grik2	UTSW	10	49,116,890 (GRCm39)	missense	probably damaging	1.00
R7952:Grik2	UTSW	10	49,298,633 (GRCm39)	missense	probably benign	0.15
R7979:Grik2	UTSW	10	49,280,438 (GRCm39)	missense	probably benign	0.01
R8062:Grik2	UTSW	10	49,116,863 (GRCm39)	missense	probably damaging	1.00
R8222:Grik2	UTSW	10	49,449,744 (GRCm39)	missense	probably benign	0.29
R8406:Grik2	UTSW	10	49,148,863 (GRCm39)	missense	probably damaging	1.00
R9017:Grik2	UTSW	10	48,989,555 (GRCm39)	missense	possibly damaging	0.94
R9557:Grik2	UTSW	10	49,404,105 (GRCm39)	missense	probably damaging	1.00
RF008:Grik2	UTSW	10	49,120,480 (GRCm39)	missense	probably damaging	1.00
X0062:Grik2	UTSW	10	49,149,016 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02