Mutagenetix > Incidental Mutation

Incidental Mutation 'R2389:Gria2'

247725

Institutional Source

Beutler Lab

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: 0.259) question?

Stock #

R2389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80588757-80710142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80609932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 626 (W626R)

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 damaging
Transcript: ENSMUST00000075316
AA Change: W626R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: W626R

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 damaging
Transcript: ENSMUST00000107745
AA Change: W626R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: W626R

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 damaging
Transcript: ENSMUST00000192463
AA Change: W626R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: W626R

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

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	T	C	2: 158,467,132 (GRCm39)	V24A	probably benign	Het
Adrm1	C	A	2: 179,816,116 (GRCm39)		probably benign	Het
Cdk13	T	A	13: 17,926,361 (GRCm39)	H813L	probably damaging	Het
Cdkal1	T	A	13: 29,736,219 (GRCm39)	H300L	probably damaging	Het
Cnksr1	T	C	4: 133,961,057 (GRCm39)	I235V	probably benign	Het
Ctnnd1	T	A	2: 84,454,615 (GRCm39)	Q11L	probably null	Het
Dync2h1	T	C	9: 7,122,618 (GRCm39)	I2113V	possibly damaging	Het
Eng	T	C	2: 32,547,684 (GRCm39)		probably null	Het
Kctd1	A	G	18: 15,195,268 (GRCm39)	S452P	possibly damaging	Het
Kdm4c	T	C	4: 74,252,107 (GRCm39)		probably null	Het
Kntc1	C	T	5: 123,919,255 (GRCm39)	L845F	probably damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Nat8f7	C	A	6: 85,684,476 (GRCm39)	M121I	probably benign	Het
Ppfibp1	A	T	6: 146,923,669 (GRCm39)	H667L	probably damaging	Het
Pramel31	T	A	4: 144,089,983 (GRCm39)	L341H	probably damaging	Het
Prss12	A	G	3: 123,280,670 (GRCm39)	N452D	possibly damaging	Het
Rab17	T	C	1: 90,891,926 (GRCm39)	T33A	probably benign	Het
Rxfp3	A	G	15: 11,036,770 (GRCm39)	C201R	probably damaging	Het
Spag17	A	G	3: 100,014,153 (GRCm39)	Y2142C	probably benign	Het
Stx6	T	C	1: 155,073,164 (GRCm39)	V225A	possibly damaging	Het
Ugt2b5	G	A	5: 87,275,541 (GRCm39)	P437S	probably damaging	Het
Usp13	A	G	3: 32,959,613 (GRCm39)	K568R	probably benign	Het
Zan	A	G	5: 137,474,642 (GRCm39)		probably null	Het
Zbtb8b	T	C	4: 129,327,066 (GRCm39)	E33G	probably benign	Het
Zcchc17	T	A	4: 130,220,997 (GRCm39)	K185*	probably null	Het

Other mutations in Gria2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00796:Gria2	APN	3	80,618,097 (GRCm39)	missense	probably benign	0.12
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
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

Predicted Primers

PCR Primer
(F):5'- ATCAGCTTTCATGGGCCATGG -3'
(R):5'- GGGTACATCCACAGATCTCAAC -3'

Sequencing Primer
(F):5'- CTTTCATGGGCCATGGGAAGAATG -3'
(R):5'- CACAGATCTCAACCTCATTATTCTG -3'

Posted On

2014-11-11