Mutagenetix > Incidental Mutations

Incidental Mutation 'R1144:Grid1'

102313

Institutional Source

Beutler Lab

Gene Symbol

Grid1

Ensembl Gene

ENSMUSG00000041078

Gene Name

glutamate receptor, ionotropic, delta 1

Synonyms

GluRdelta1

MMRRC Submission

039217-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1144 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

34820108-35583379 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 35562676 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043349]

Predicted Effect

probably benign
Transcript: ENSMUST00000043349

SMART Domains

Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	36	400	4.1e-51	PFAM
PBPe	438	807	4.68e-110	SMART
Lig_chan-Glu_bd	448	510	8.18e-25	SMART
low complexity region	838	853	N/A	INTRINSIC
low complexity region	943	958	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 120,360,860		probably benign	Het
Abcc5	A	T	16: 20,422,438		probably benign	Het
Acsl5	A	C	19: 55,291,843	D516A	probably damaging	Het
Adcy1	G	A	11: 7,137,400	A425T	probably damaging	Het
Aebp1	A	G	11: 5,868,475	T107A	probably benign	Het
Arhgef33	T	C	17: 80,355,044	S219P	probably benign	Het
Atm	T	G	9: 53,511,698		probably benign	Het
C1ql2	A	C	1: 120,342,537	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,322,597		probably null	Het
Cmbl	A	G	15: 31,581,874	N6D	probably benign	Het
Cntn3	A	G	6: 102,242,126	V511A	possibly damaging	Het
Coq9	C	A	8: 94,842,623	R28S	probably benign	Het
Creld1	T	C	6: 113,483,961	F20S	probably benign	Het
Dcstamp	A	G	15: 39,760,368	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,154,250	I244K	probably benign	Het
Dnhd1	G	A	7: 105,713,031	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 78,051,905	C110S	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fgfr1	T	G	8: 25,558,143	V172G	probably damaging	Het
Frem3	C	A	8: 80,611,884	Q269K	probably benign	Het
Frmd6	C	A	12: 70,877,168	H67N	probably damaging	Het
Fry	A	G	5: 150,418,464	T1532A	possibly damaging	Het
Git2	G	T	5: 114,753,314	S243R	probably benign	Het
Grp	A	G	18: 65,879,970	D69G	probably damaging	Het
Hmbox1	A	T	14: 64,825,683	L347Q	probably damaging	Het
Hrasls5	A	G	19: 7,613,330	D74G	probably benign	Het
Hsh2d	C	T	8: 72,193,592		probably benign	Het
Itpr3	G	A	17: 27,114,923	S2018N	probably benign	Het
Kif13b	T	A	14: 64,714,117	V69D	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lmcd1	T	A	6: 112,310,751		probably benign	Het
Megf9	C	A	4: 70,534,624	A67S	probably benign	Het
Myo5b	G	A	18: 74,625,587	R213H	probably damaging	Het
Myo5c	T	A	9: 75,286,448	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,481,678		probably benign	Het
Ntrk1	G	A	3: 87,781,542	T568I	probably damaging	Het
Pcmtd1	A	G	1: 7,120,481	H58R	probably damaging	Het
Plxna4	A	T	6: 32,197,156	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,941,278	D483G	probably benign	Het
Prdm15	G	A	16: 97,808,708	R579C	probably damaging	Het
Prickle1	T	A	15: 93,512,461	R41W	probably damaging	Het
Rbm19	A	G	5: 120,123,016	D235G	possibly damaging	Het
Smco2	A	G	6: 146,871,140		probably benign	Het
Sned1	G	C	1: 93,280,576	G785R	probably damaging	Het
Stat4	A	G	1: 52,084,129		probably benign	Het
Syne2	T	A	12: 75,966,524	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,236,571	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,027		probably benign	Het
Tmem63b	T	A	17: 45,666,427	K383N	probably benign	Het
Trp53rka	C	A	2: 165,493,041		probably benign	Het
Trub1	G	A	19: 57,485,131	V207M	probably benign	Het
Ulk2	A	T	11: 61,800,060	C551S	possibly damaging	Het
Urb1	A	T	16: 90,776,318		probably null	Het
Vmn1r219	C	A	13: 23,163,213	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 64,090,120	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,476,229		probably benign	Het
Wars	A	T	12: 108,888,365	L41*	probably null	Het
Washc2	G	A	6: 116,224,534	E64K	probably damaging	Het
Washc4	G	A	10: 83,580,330	R828Q	probably damaging	Het
Wdr59	A	T	8: 111,486,944	M313K	probably benign	Het
Wscd2	G	A	5: 113,561,090		probably null	Het
Zdhhc20	A	C	14: 57,856,678	L176V	probably benign	Het

Other mutations in Grid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Grid1	APN	14	35445887	missense	possibly damaging	0.70
IGL01016:Grid1	APN	14	34822639	nonsense	probably null
IGL01643:Grid1	APN	14	35323435	critical splice donor site	probably null
IGL01697:Grid1	APN	14	35309257	missense	probably benign	0.21
IGL01879:Grid1	APN	14	35450370	missense	possibly damaging	0.93
IGL01975:Grid1	APN	14	35323426	missense	probably benign
IGL02515:Grid1	APN	14	35452345	missense	probably damaging	0.99
IGL02935:Grid1	APN	14	34822558	missense	possibly damaging	0.86
IGL03279:Grid1	APN	14	34945765	missense	probably damaging	0.98
IGL03286:Grid1	APN	14	35520685	splice site	probably benign
IGL03296:Grid1	APN	14	35580567	missense	possibly damaging	0.52
IGL03305:Grid1	APN	14	35251707	missense	probably damaging	1.00
R0533:Grid1	UTSW	14	35309385	missense	possibly damaging	0.84
R0746:Grid1	UTSW	14	34822690	missense	possibly damaging	0.92
R0811:Grid1	UTSW	14	34822619	missense	probably benign
R0812:Grid1	UTSW	14	34822619	missense	probably benign
R1217:Grid1	UTSW	14	34820229	start codon destroyed	probably null	0.53
R1485:Grid1	UTSW	14	34822583	missense	probably damaging	1.00
R1529:Grid1	UTSW	14	35309293	missense	probably benign	0.36
R1606:Grid1	UTSW	14	35445965	missense	probably damaging	0.96
R1691:Grid1	UTSW	14	35452329	missense	probably damaging	1.00
R1759:Grid1	UTSW	14	35446031	missense	possibly damaging	0.92
R2374:Grid1	UTSW	14	35321807	splice site	probably benign
R2415:Grid1	UTSW	14	35450369	missense	possibly damaging	0.69
R2866:Grid1	UTSW	14	35562559	missense	probably damaging	1.00
R3915:Grid1	UTSW	14	35520727	missense	probably damaging	1.00
R4044:Grid1	UTSW	14	35450401	splice site	probably benign
R4364:Grid1	UTSW	14	34946032	missense	probably benign	0.20
R4691:Grid1	UTSW	14	35569557	missense	probably benign
R4694:Grid1	UTSW	14	35026780	missense	probably damaging	1.00
R4749:Grid1	UTSW	14	35580687	missense	possibly damaging	0.50
R4794:Grid1	UTSW	14	34822622	missense	probably damaging	0.99
R4854:Grid1	UTSW	14	35321641	missense	probably benign
R5555:Grid1	UTSW	14	35520705	missense	possibly damaging	0.92
R6005:Grid1	UTSW	14	35323412	missense	probably damaging	1.00
R6176:Grid1	UTSW	14	35562547	missense	probably benign	0.00
R6569:Grid1	UTSW	14	35323339	missense	possibly damaging	0.72
R6911:Grid1	UTSW	14	34820228	start codon destroyed	probably benign	0.08
R7504:Grid1	UTSW	14	35562513	missense	probably damaging	1.00
R7744:Grid1	UTSW	14	35450079	missense	probably damaging	1.00
R7795:Grid1	UTSW	14	35321685	missense	probably damaging	1.00
R7883:Grid1	UTSW	14	35450302	splice site	probably null
R7913:Grid1	UTSW	14	35569697	missense	probably damaging	0.99
R8032:Grid1	UTSW	14	35323359	missense	probably benign	0.00
R8333:Grid1	UTSW	14	35569638	missense	possibly damaging	0.82
U24488:Grid1	UTSW	14	35580577	missense	probably benign	0.00
Z1088:Grid1	UTSW	14	35452294	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15