Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00796:Gria2'

11142

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gria2

Ensembl Gene

ENSMUSG00000033981

Gene Name

glutamate receptor, ionotropic, AMPA2 (alpha 2)

Synonyms

Glur-2, GluA2, GluR2, GluR-B, Glur2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

IGL00796

Quality Score

Status

Chromosome

Chromosomal Location

80588757-80710142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80618097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 313 (N313D)

Ref Sequence

ENSEMBL: ENSMUSP00000141447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075316] [ENSMUST00000107745] [ENSMUST00000192463]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075316
AA Change: N313D

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: N313D

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	49	379	2.7e-58	PFAM
PBPe	415	790	3.75e-132	SMART
Lig_chan-Glu_bd	425	490	2.96e-31	SMART
low complexity region	820	832	N/A	INTRINSIC
low complexity region	853	865	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107745
AA Change: N313D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: N313D

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	47	379	4.8e-53	PFAM
PBPe	415	790	8.16e-133	SMART
Lig_chan-Glu_bd	425	490	2.96e-31	SMART
low complexity region	820	832	N/A	INTRINSIC
low complexity region	853	865	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192463
AA Change: N313D

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: N313D

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:ANF_receptor	47	379	1.7e-51	PFAM
PBPe	415	770	1.2e-105	SMART
Lig_chan-Glu_bd	425	490	2.2e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195062

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 a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, Gria1-4. The subunit encoded by this gene (Gria2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit epilepsy, deficient dendritic architecture, altered exploratory behavior, impaired motor and learning performance, and increased mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh5	A	G	3: 138,156,742 (GRCm39)	T143A	probably benign	Het
Alk	T	A	17: 72,212,137 (GRCm39)	N802I	possibly damaging	Het
Aspn	A	G	13: 49,710,893 (GRCm39)	I179M	probably damaging	Het
Bptf	A	G	11: 106,945,376 (GRCm39)	L2506P	probably damaging	Het
Cacna1f	T	A	X: 7,497,270 (GRCm39)	D1594E	probably damaging	Het
Chd7	T	A	4: 8,847,271 (GRCm39)	N1671K	possibly damaging	Het
Dnah7b	T	C	1: 46,250,497 (GRCm39)	V1706A	probably damaging	Het
Elmo2	A	T	2: 165,133,934 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,291,959 (GRCm39)	S1108P	probably benign	Het
Fam53a	A	T	5: 33,758,171 (GRCm39)	D317E	probably benign	Het
Itch	A	T	2: 155,051,002 (GRCm39)	H563L	probably damaging	Het
Kdm1a	G	A	4: 136,281,558 (GRCm39)	A651V	probably damaging	Het
Myb	T	G	10: 21,017,698 (GRCm39)	Q631P	probably benign	Het
Myh9	A	T	15: 77,681,195 (GRCm39)		probably benign	Het
Nars2	C	A	7: 96,680,786 (GRCm39)	L319I	probably benign	Het
Nars2	T	A	7: 96,680,787 (GRCm39)	L319Q	probably benign	Het
Pdcl2	G	A	5: 76,467,022 (GRCm39)	T57I	probably damaging	Het
Pde6g	T	A	11: 120,341,390 (GRCm39)	I17L	probably benign	Het
Ppp1r9a	T	A	6: 5,157,014 (GRCm39)	M964K	probably benign	Het
Ssxb2	A	G	X: 8,324,459 (GRCm39)		probably benign	Het
Tonsl	T	C	15: 76,509,349 (GRCm39)	T8A	probably benign	Het
Zdbf2	T	C	1: 63,346,364 (GRCm39)	M1581T	probably benign	Het

Other mutations in Gria2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Gria2	APN	3	80,614,558 (GRCm39)	missense	probably damaging	1.00
IGL01086:Gria2	APN	3	80,599,688 (GRCm39)	missense	probably damaging	1.00
IGL01409:Gria2	APN	3	80,615,004 (GRCm39)	critical splice donor site	probably null
IGL01924:Gria2	APN	3	80,617,638 (GRCm39)	missense	probably benign	0.13
IGL01999:Gria2	APN	3	80,639,398 (GRCm39)	missense	probably damaging	1.00
IGL02355:Gria2	APN	3	80,614,244 (GRCm39)	missense	probably damaging	1.00
IGL02362:Gria2	APN	3	80,614,244 (GRCm39)	missense	probably damaging	1.00
IGL02389:Gria2	APN	3	80,616,729 (GRCm39)	missense	probably benign	0.14
IGL02444:Gria2	APN	3	80,609,860 (GRCm39)	missense	possibly damaging	0.65
IGL02532:Gria2	APN	3	80,614,306 (GRCm39)	missense	probably damaging	1.00
IGL02991:Gria2	UTSW	3	80,615,116 (GRCm39)	nonsense	probably null
R0015:Gria2	UTSW	3	80,615,074 (GRCm39)	missense	probably damaging	1.00
R0148:Gria2	UTSW	3	80,615,038 (GRCm39)	missense	probably damaging	1.00
R0201:Gria2	UTSW	3	80,615,145 (GRCm39)	missense	probably damaging	1.00
R0411:Gria2	UTSW	3	80,618,165 (GRCm39)	splice site	probably benign
R0551:Gria2	UTSW	3	80,639,333 (GRCm39)	splice site	probably benign
R0655:Gria2	UTSW	3	80,639,377 (GRCm39)	nonsense	probably null
R0866:Gria2	UTSW	3	80,629,331 (GRCm39)	splice site	probably benign
R1393:Gria2	UTSW	3	80,614,405 (GRCm39)	missense	probably damaging	1.00
R1458:Gria2	UTSW	3	80,639,352 (GRCm39)	missense	possibly damaging	0.71
R1563:Gria2	UTSW	3	80,598,704 (GRCm39)	missense	probably damaging	0.96
R1771:Gria2	UTSW	3	80,599,608 (GRCm39)	nonsense	probably null
R1775:Gria2	UTSW	3	80,598,645 (GRCm39)	missense	probably benign	0.09
R1902:Gria2	UTSW	3	80,629,415 (GRCm39)	missense	probably damaging	0.98
R1993:Gria2	UTSW	3	80,709,664 (GRCm39)	missense	probably benign
R1994:Gria2	UTSW	3	80,709,664 (GRCm39)	missense	probably benign
R1995:Gria2	UTSW	3	80,709,664 (GRCm39)	missense	probably benign
R2001:Gria2	UTSW	3	80,618,112 (GRCm39)	missense	probably benign	0.28
R2389:Gria2	UTSW	3	80,609,932 (GRCm39)	missense	probably damaging	1.00
R2520:Gria2	UTSW	3	80,614,269 (GRCm39)	missense	probably damaging	1.00
R2679:Gria2	UTSW	3	80,648,260 (GRCm39)	splice site	probably benign
R2865:Gria2	UTSW	3	80,639,392 (GRCm39)	missense	probably benign	0.00
R2869:Gria2	UTSW	3	80,609,799 (GRCm39)	missense	probably damaging	1.00
R2869:Gria2	UTSW	3	80,609,799 (GRCm39)	missense	probably damaging	1.00
R2870:Gria2	UTSW	3	80,609,799 (GRCm39)	missense	probably damaging	1.00
R2870:Gria2	UTSW	3	80,609,799 (GRCm39)	missense	probably damaging	1.00
R2871:Gria2	UTSW	3	80,609,799 (GRCm39)	missense	probably damaging	1.00
R2871:Gria2	UTSW	3	80,609,799 (GRCm39)	missense	probably damaging	1.00
R2872:Gria2	UTSW	3	80,609,799 (GRCm39)	missense	probably damaging	1.00
R2872:Gria2	UTSW	3	80,609,799 (GRCm39)	missense	probably damaging	1.00
R3716:Gria2	UTSW	3	80,648,311 (GRCm39)	missense	possibly damaging	0.77
R3967:Gria2	UTSW	3	80,618,084 (GRCm39)	missense	possibly damaging	0.95
R4285:Gria2	UTSW	3	80,614,969 (GRCm39)	intron	probably benign
R4611:Gria2	UTSW	3	80,599,799 (GRCm39)	missense	probably damaging	0.99
R4612:Gria2	UTSW	3	80,639,358 (GRCm39)	missense	probably damaging	1.00
R4616:Gria2	UTSW	3	80,614,204 (GRCm39)	missense	probably damaging	1.00
R4706:Gria2	UTSW	3	80,648,297 (GRCm39)	missense	probably benign
R4996:Gria2	UTSW	3	80,614,448 (GRCm39)	missense	probably damaging	0.99
R5502:Gria2	UTSW	3	80,614,252 (GRCm39)	missense	probably damaging	1.00
R5930:Gria2	UTSW	3	80,614,556 (GRCm39)	missense	possibly damaging	0.91
R6142:Gria2	UTSW	3	80,709,024 (GRCm39)	missense	probably benign	0.13
R6233:Gria2	UTSW	3	80,614,510 (GRCm39)	missense	probably damaging	0.99
R6317:Gria2	UTSW	3	80,648,311 (GRCm39)	missense	possibly damaging	0.79
R6453:Gria2	UTSW	3	80,648,281 (GRCm39)	missense	possibly damaging	0.93
R6526:Gria2	UTSW	3	80,599,776 (GRCm39)	missense	probably damaging	1.00
R6545:Gria2	UTSW	3	80,648,451 (GRCm39)	missense	probably damaging	0.99
R6574:Gria2	UTSW	3	80,596,603 (GRCm39)	missense	probably damaging	0.99
R6720:Gria2	UTSW	3	80,709,611 (GRCm39)	missense	probably benign	0.37
R7009:Gria2	UTSW	3	80,614,279 (GRCm39)	missense	probably damaging	1.00
R7049:Gria2	UTSW	3	80,596,634 (GRCm39)	missense	probably damaging	0.99
R7191:Gria2	UTSW	3	80,639,392 (GRCm39)	missense	probably benign	0.24
R7225:Gria2	UTSW	3	80,709,938 (GRCm39)	unclassified	probably benign
R7374:Gria2	UTSW	3	80,648,383 (GRCm39)	missense	probably benign
R7837:Gria2	UTSW	3	80,618,095 (GRCm39)	missense	probably benign	0.18
R8034:Gria2	UTSW	3	80,709,006 (GRCm39)	missense	probably damaging	1.00
R8125:Gria2	UTSW	3	80,614,550 (GRCm39)	missense	possibly damaging	0.88
R8189:Gria2	UTSW	3	80,629,489 (GRCm39)	missense	probably damaging	1.00
R8209:Gria2	UTSW	3	80,616,764 (GRCm39)	missense	probably benign	0.01
R8362:Gria2	UTSW	3	80,615,197 (GRCm39)	missense	possibly damaging	0.82
R8481:Gria2	UTSW	3	80,708,998 (GRCm39)	missense	possibly damaging	0.95
R8500:Gria2	UTSW	3	80,599,774 (GRCm39)	missense	probably damaging	0.99
R8516:Gria2	UTSW	3	80,614,294 (GRCm39)	missense	probably benign	0.27
R8918:Gria2	UTSW	3	80,599,706 (GRCm39)	missense	probably damaging	1.00
R8939:Gria2	UTSW	3	80,618,170 (GRCm39)	intron	probably benign
R8971:Gria2	UTSW	3	80,615,200 (GRCm39)	missense	probably damaging	0.98
R9229:Gria2	UTSW	3	80,709,689 (GRCm39)	start codon destroyed	probably null	0.60

Posted On

2012-12-06