Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03131:Gria4'

410308

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gria4

Ensembl Gene

ENSMUSG00000025892

Gene Name

glutamate receptor, ionotropic, AMPA4 (alpha 4)

Synonyms

Gluralpha4, spkw1, Glur4, Glur-4

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.614) question?

Stock #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

4417896-4796234 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4432876 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 769 (N769T)

Ref Sequence

ENSEMBL: ENSMUSP00000148533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027020] [ENSMUST00000063508] [ENSMUST00000212533]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027020
AA Change: N769T

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: N769T

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	39	380	3e-61	PFAM
PBPe	416	791	8.23e-129	SMART
Lig_chan-Glu_bd	426	491	3.4e-31	SMART
low complexity region	821	833	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063508

SMART Domains

Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	39	380	2.5e-71	PFAM
PBPe	416	791	2.06e-129	SMART
Lig_chan-Glu_bd	426	491	3.4e-31	SMART
low complexity region	821	833	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000212533
AA Change: N769T

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

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. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display hyperactivity, decreased thermal nociception, and abnormal sensitivity to pharmacologically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,679,602	R135S	unknown	Het
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Abca12	A	T	1: 71,346,702	F252L	probably benign	Het
Abcd3	A	T	3: 121,781,991		probably benign	Het
Acvr2b	C	A	9: 119,431,284	F364L	possibly damaging	Het
Adamts12	T	C	15: 11,345,564	C1564R	probably damaging	Het
Agap3	A	G	5: 24,477,132	T392A	probably benign	Het
Ano1	A	G	7: 144,603,585	F767L	possibly damaging	Het
Atg10	C	A	13: 90,937,293	R179I	probably null	Het
Bsph1	A	T	7: 13,473,087	K129N	probably damaging	Het
Calml4	A	G	9: 62,875,483	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,143,427	K153M	probably damaging	Het
Col4a2	G	A	8: 11,425,979	V672I	probably benign	Het
Crnkl1	T	C	2: 145,932,258	K95R	probably benign	Het
Crtap	T	C	9: 114,380,004	D324G	possibly damaging	Het
Csmd1	C	T	8: 16,088,217	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,451,688	I369R	probably benign	Het
Dmc1	T	A	15: 79,568,691	I246L	probably benign	Het
Dock1	G	T	7: 134,874,183	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,870,183	T112M	probably damaging	Het
F5	A	T	1: 164,161,819	I97F	possibly damaging	Het
Fam208a	C	T	14: 27,461,179	Q532*	probably null	Het
Fasn	C	T	11: 120,810,724	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,281,511	V414A	probably benign	Het
Gpd2	T	C	2: 57,338,843		probably benign	Het
Gtf3c2	A	T	5: 31,157,620	F885I	probably damaging	Het
Ifi209	C	T	1: 173,641,234	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,315,361	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,307,703	A120V	probably benign	Het
Mef2c	T	C	13: 83,662,375	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,307,692	L171I	probably benign	Het
Myf6	T	A	10: 107,494,271	Q145L	probably damaging	Het
Myh3	G	A	11: 67,091,109		probably benign	Het
Nbas	A	G	12: 13,279,416	I121V	probably benign	Het
Ncoa2	A	T	1: 13,177,174	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,161,915	D896N	possibly damaging	Het
Prss41	A	G	17: 23,842,524	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,517,559	T450S	probably benign	Het
Rab39	G	A	9: 53,686,561	R135C	probably damaging	Het
Radil	A	G	5: 142,495,342	V570A	probably damaging	Het
Sbno1	C	T	5: 124,388,605	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,882,878	K98*	probably null	Het
Serbp1	T	A	6: 67,281,823		probably null	Het
Serpinb3c	G	T	1: 107,271,727	Q355K	probably benign	Het
Slc34a3	T	G	2: 25,231,234	D307A	probably benign	Het
Smarcad1	T	A	6: 65,074,953	S357T	probably damaging	Het
Spag17	G	A	3: 100,010,759	D353N	possibly damaging	Het
Spdl1	T	A	11: 34,830,765	Q39L	possibly damaging	Het
Syne2	A	C	12: 76,057,490	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,988,168	V227F	probably damaging	Het
Syt12	T	C	19: 4,456,854	T88A	probably benign	Het
Tlr12	A	G	4: 128,615,877	F860S	probably damaging	Het
Trdn	C	A	10: 33,398,414	S461*	probably null	Het
Trip4	G	A	9: 65,857,445	P413S	probably benign	Het
Wdr17	A	G	8: 54,696,267		probably null	Het
Wnt9a	T	C	11: 59,331,029	L251P	probably damaging	Het
Xrcc1	A	T	7: 24,573,294	K618*	probably null	Het
Zfp759	T	C	13: 67,138,664	L93P	probably damaging	Het

Other mutations in Gria4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Gria4	APN	9	4472202	missense	probably damaging	0.98
IGL01451:Gria4	APN	9	4503652	missense	probably benign	0.04
IGL01533:Gria4	APN	9	4502395	missense	probably damaging	1.00
IGL01994:Gria4	APN	9	4537726	missense	probably damaging	1.00
IGL02078:Gria4	APN	9	4793878	missense	probably damaging	0.98
IGL02183:Gria4	APN	9	4502460	missense	probably damaging	1.00
IGL02351:Gria4	APN	9	4456206	missense	possibly damaging	0.84
IGL02358:Gria4	APN	9	4456206	missense	possibly damaging	0.84
IGL03118:Gria4	APN	9	4793804	splice site	probably benign
IGL03148:Gria4	APN	9	4464295	missense	possibly damaging	0.91
IGL03264:Gria4	APN	9	4513288	missense	probably benign
PIT4812001:Gria4	UTSW	9	4427128	missense	probably damaging	1.00
R0018:Gria4	UTSW	9	4432843	missense	possibly damaging	0.71
R0295:Gria4	UTSW	9	4793840	missense	possibly damaging	0.69
R0654:Gria4	UTSW	9	4464372	missense	probably benign	0.32
R0690:Gria4	UTSW	9	4427071	missense	probably damaging	1.00
R0992:Gria4	UTSW	9	4795238	missense	probably benign
R1517:Gria4	UTSW	9	4793865	missense	probably damaging	1.00
R1673:Gria4	UTSW	9	4537637	nonsense	probably null
R1713:Gria4	UTSW	9	4424448	missense	probably benign	0.20
R1961:Gria4	UTSW	9	4519546	splice site	probably benign
R2137:Gria4	UTSW	9	4427026	intron	probably benign
R2397:Gria4	UTSW	9	4537717	missense	probably damaging	1.00
R2870:Gria4	UTSW	9	4503614	missense	probably damaging	0.96
R2870:Gria4	UTSW	9	4503614	missense	probably damaging	0.96
R3014:Gria4	UTSW	9	4464294	missense	probably damaging	0.97
R3412:Gria4	UTSW	9	4513278	missense	probably benign	0.00
R3732:Gria4	UTSW	9	4513295	missense	probably benign
R3732:Gria4	UTSW	9	4513295	missense	probably benign
R3733:Gria4	UTSW	9	4513295	missense	probably benign
R3897:Gria4	UTSW	9	4513260	missense	probably damaging	1.00
R4404:Gria4	UTSW	9	4464489	splice site	probably null
R4457:Gria4	UTSW	9	4427074	missense	probably damaging	1.00
R4672:Gria4	UTSW	9	4664981	missense	possibly damaging	0.96
R4865:Gria4	UTSW	9	4464295	missense	possibly damaging	0.91
R5092:Gria4	UTSW	9	4472176	missense	probably benign	0.01
R5109:Gria4	UTSW	9	4472168	missense	probably damaging	1.00
R5202:Gria4	UTSW	9	4424330	missense	probably benign	0.10
R5828:Gria4	UTSW	9	4432832	missense	probably damaging	1.00
R5945:Gria4	UTSW	9	4456122	missense	probably damaging	1.00
R5985:Gria4	UTSW	9	4503593	missense	probably damaging	0.99
R6036:Gria4	UTSW	9	4537646	missense	probably benign	0.00
R6036:Gria4	UTSW	9	4537646	missense	probably benign	0.00
R6111:Gria4	UTSW	9	4502430	missense	probably damaging	1.00
R6190:Gria4	UTSW	9	4420199	missense	probably benign
R6280:Gria4	UTSW	9	4456072	missense	probably damaging	1.00
R6406:Gria4	UTSW	9	4427077	missense	probably damaging	1.00
R6470:Gria4	UTSW	9	4503680	missense	probably damaging	1.00
R6485:Gria4	UTSW	9	4464249	missense	probably damaging	1.00
R6612:Gria4	UTSW	9	4472206	missense	possibly damaging	0.93
R6848:Gria4	UTSW	9	4793822	missense	probably damaging	1.00
R7046:Gria4	UTSW	9	4420278	missense	probably damaging	0.97
R7210:Gria4	UTSW	9	4464135	missense	probably damaging	1.00
R7284:Gria4	UTSW	9	4472017	missense	probably damaging	1.00
R7475:Gria4	UTSW	9	4513330	missense	probably damaging	1.00
R7501:Gria4	UTSW	9	4502436	missense	probably benign	0.01
R7536:Gria4	UTSW	9	4464298	missense	probably damaging	1.00
R7604:Gria4	UTSW	9	4464315	missense	probably damaging	1.00
R7643:Gria4	UTSW	9	4793950	missense	probably benign	0.00
R7669:Gria4	UTSW	9	4462029	missense	probably damaging	1.00
R7703:Gria4	UTSW	9	4503588	missense	probably benign
R7720:Gria4	UTSW	9	4464288	missense	probably damaging	1.00
R7724:Gria4	UTSW	9	4472074	missense	probably damaging	1.00
R7909:Gria4	UTSW	9	4464450	missense	probably damaging	1.00
R8007:Gria4	UTSW	9	4503740	splice site	probably benign
R8044:Gria4	UTSW	9	4456216	missense	probably damaging	1.00
R8062:Gria4	UTSW	9	4480273	missense	possibly damaging	0.54
R8131:Gria4	UTSW	9	4502429	missense	probably benign	0.16
R8212:Gria4	UTSW	9	4480242	missense	probably benign
X0023:Gria4	UTSW	9	4427067	missense	probably damaging	1.00
X0065:Gria4	UTSW	9	4464340	missense	possibly damaging	0.83

Posted On

2016-08-02