Mutagenetix > Incidental Mutation

Incidental Mutation 'R4612:Gria2'

344798

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

MMRRC Submission

041823-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R4612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80588757-80710142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80639358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 218 (D218G)

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: D218G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: D218G

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: D218G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: D218G

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: D218G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: D218G

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,635 (GRCm39)	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,268,806 (GRCm39)	M1K	probably null	Het
Abca15	A	G	7: 119,934,384 (GRCm39)	D120G	probably benign	Het
Adam26a	A	T	8: 44,021,830 (GRCm39)	N553K	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adam34l	A	T	8: 44,079,587 (GRCm39)	F212L	probably benign	Het
Adam39	A	T	8: 41,278,958 (GRCm39)	S450C	probably damaging	Het
Agap2	A	T	10: 126,915,965 (GRCm39)	T159S	unknown	Het
Ahnak	G	A	19: 8,981,088 (GRCm39)	V791I	probably benign	Het
Ak7	T	G	12: 105,727,772 (GRCm39)	L468R	probably damaging	Het
Akap12	A	G	10: 4,304,456 (GRCm39)	D422G	probably damaging	Het
Antxr1	T	A	6: 87,265,155 (GRCm39)	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,170,775 (GRCm39)	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,059,427 (GRCm39)	E322D	probably benign	Het
Atg4b	T	C	1: 93,714,263 (GRCm39)	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,856 (GRCm39)	K127R	probably damaging	Het
Atxn1l	C	T	8: 110,458,736 (GRCm39)	V509M	possibly damaging	Het
B3glct	T	A	5: 149,663,022 (GRCm39)	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,646,009 (GRCm39)	P70L	probably damaging	Het
Bok	T	A	1: 93,621,900 (GRCm39)	F157L	probably damaging	Het
Bves	G	A	10: 45,215,373 (GRCm39)	G16D	probably benign	Het
Cacna1b	T	A	2: 24,516,864 (GRCm39)	K65*	probably null	Het
Casc3	A	G	11: 98,713,784 (GRCm39)	T339A	probably benign	Het
Ccdc18	C	T	5: 108,283,307 (GRCm39)	S6L	probably benign	Het
Cd86	A	G	16: 36,435,692 (GRCm39)	Y242H	probably benign	Het
Chd3	A	C	11: 69,244,035 (GRCm39)	Y1249*	probably null	Het
Chrne	T	C	11: 70,507,848 (GRCm39)	T284A	probably damaging	Het
Col12a1	T	C	9: 79,523,339 (GRCm39)	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,897,448 (GRCm39)	M72K	probably benign	Het
Csmd1	G	T	8: 15,971,908 (GRCm39)		probably null	Het
Det1	A	T	7: 78,493,454 (GRCm39)	N183K	probably damaging	Het
Dis3	C	A	14: 99,328,871 (GRCm39)	V294L	probably benign	Het
Dnah2	G	A	11: 69,374,193 (GRCm39)	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dsg4	T	A	18: 20,595,470 (GRCm39)	S558T	probably benign	Het
Dzip3	A	T	16: 48,772,403 (GRCm39)	L422*	probably null	Het
Elp6	T	C	9: 110,143,087 (GRCm39)	F100S	probably damaging	Het
Epg5	C	T	18: 78,025,629 (GRCm39)	T1224I	possibly damaging	Het
Exoc1l	A	T	5: 76,664,345 (GRCm39)	N145Y	probably damaging	Het
F830016B08Rik	T	A	18: 60,434,087 (GRCm39)	I390N	probably benign	Het
Fam110c	A	G	12: 31,124,655 (GRCm39)	T206A	unknown	Het
Fam187b	G	A	7: 30,676,518 (GRCm39)	G9D	possibly damaging	Het
Fat1	A	G	8: 45,478,184 (GRCm39)	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,122,760 (GRCm39)	F390Y	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip1a	G	A	3: 85,637,679 (GRCm39)	R207*	probably null	Het
Flcn	T	C	11: 59,683,513 (GRCm39)	T555A	probably damaging	Het
Foxq1	G	T	13: 31,742,808 (GRCm39)		probably benign	Het
Gm3233	A	T	10: 77,595,498 (GRCm39)		probably benign	Het
Gprc5a	G	A	6: 135,055,927 (GRCm39)	V125I	probably damaging	Het
Gtf3c5	C	T	2: 28,469,596 (GRCm39)	A103T	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hspg2	A	G	4: 137,266,886 (GRCm39)	T1964A	possibly damaging	Het
Htatip2	G	T	7: 49,422,345 (GRCm39)	E188*	probably null	Het
Ifna13	T	G	4: 88,562,113 (GRCm39)	E170D	probably damaging	Het
Il4ra	A	G	7: 125,175,255 (GRCm39)	T488A	probably benign	Het
Jup	G	T	11: 100,272,660 (GRCm39)	H251N	probably damaging	Het
Kif21a	A	T	15: 90,852,426 (GRCm39)		probably null	Het
Klhl28	T	A	12: 65,004,034 (GRCm39)	I160L	probably damaging	Het
Klk1b5	A	T	7: 43,494,696 (GRCm39)	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,950,706 (GRCm39)	R1995G	probably damaging	Het
Lrig2	A	C	3: 104,370,099 (GRCm39)	I844M	probably damaging	Het
Lrp2	C	T	2: 69,288,771 (GRCm39)	W3698*	probably null	Het
Lyar	T	A	5: 38,382,053 (GRCm39)	S12T	possibly damaging	Het
Map3k19	T	C	1: 127,743,037 (GRCm39)	K1507E	probably benign	Het
Mre11a	G	A	9: 14,714,199 (GRCm39)	G267R	probably damaging	Het
Mthfd1l	A	G	10: 3,980,717 (GRCm39)	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,593 (GRCm39)	E29V	probably benign	Het
Neb	T	C	2: 52,177,255 (GRCm39)	D1362G	probably damaging	Het
Nme2	T	C	11: 93,846,428 (GRCm39)	T7A	possibly damaging	Het
Nod2	T	A	8: 89,391,664 (GRCm39)	L657Q	possibly damaging	Het
Nrm	T	A	17: 36,174,421 (GRCm39)	V75E	probably benign	Het
Ogfod1	A	C	8: 94,763,975 (GRCm39)	K20T	possibly damaging	Het
Omp	T	C	7: 97,794,348 (GRCm39)	N93S	probably damaging	Het
Or10h28	T	A	17: 33,488,454 (GRCm39)	V252E	probably benign	Het
Or14a256	T	A	7: 86,264,944 (GRCm39)	Q303L	probably benign	Het
Or5h27	T	C	16: 59,006,674 (GRCm39)	I57M	probably damaging	Het
Pcdhb15	A	C	18: 37,608,648 (GRCm39)	T627P	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pogk	C	A	1: 166,226,334 (GRCm39)	E606*	probably null	Het
Ppp1r10	T	A	17: 36,238,823 (GRCm39)	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,273,872 (GRCm39)	C339R	possibly damaging	Het
Psd	T	A	19: 46,301,778 (GRCm39)	D937V	probably benign	Het
Rbak	T	C	5: 143,160,222 (GRCm39)	Q277R	probably benign	Het
Sbno1	T	A	5: 124,542,087 (GRCm39)	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,352,226 (GRCm39)	Q201*	probably null	Het
Serpinb3a	T	C	1: 106,975,337 (GRCm39)	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,078,770 (GRCm39)	N306K	probably damaging	Het
Smarca2	C	A	19: 26,753,625 (GRCm39)	D1584E	possibly damaging	Het
Snx29	C	A	16: 11,265,359 (GRCm39)	Q530K	probably damaging	Het
Stard10	C	A	7: 100,994,877 (GRCm39)	Q278K	possibly damaging	Het
Tgm2	C	T	2: 157,966,124 (GRCm39)	C510Y	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Tmco4	T	C	4: 138,717,871 (GRCm39)	W4R	probably benign	Het
Tmem151a	T	A	19: 5,121,862 (GRCm39)		probably benign	Het
Tmem255b	T	C	8: 13,504,228 (GRCm39)	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,510,950 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,781,750 (GRCm39)	T290A	probably damaging	Het
Tsc22d1	G	A	14: 76,656,445 (GRCm39)	E120K	possibly damaging	Het
Ttc29	A	G	8: 79,052,175 (GRCm39)	D352G	probably benign	Het
Usp25	A	T	16: 76,830,833 (GRCm39)	I30F	possibly damaging	Het
Usp34	A	C	11: 23,382,268 (GRCm39)	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,283,284 (GRCm39)	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,387,132 (GRCm39)	T157K	probably benign	Het
Vstm5	A	T	9: 15,168,789 (GRCm39)	I118F	probably benign	Het
Vwa7	T	C	17: 35,242,426 (GRCm39)	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,462,123 (GRCm39)	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,237,922 (GRCm39)	N408Y	probably benign	Het
Zswim5	C	T	4: 116,843,901 (GRCm39)	H980Y	probably damaging	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
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
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'- CTGCCATTGCTTACTGAGGC -3'
(R):5'- TGAGAGCCTCTGACTGATGC -3'

Sequencing Primer
(F):5'- ACTGAGGCTGGGGATAATTCAATTG -3'
(R):5'- GGCTTATCAACACTGCAAGCTGTG -3'

Posted On

2015-09-25