Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01016:Grid1'

53968

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grid1

Ensembl Gene

ENSMUSG00000041078

Gene Name

glutamate receptor, ionotropic, delta 1

Synonyms

GluRdelta1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL01016

Quality Score

Status

Chromosome

Chromosomal Location

34542065-35305336 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 34544596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 56 (Q56*)

Ref Sequence

ENSEMBL: ENSMUSP00000044009 (fasta)

Gene Model

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

AlphaFold

Q61627

Predicted Effect

probably null
Transcript: ENSMUST00000043349
AA Change: Q56*

SMART Domains

Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: Q56*

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

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdh20	G	A	1: 110,036,686 (GRCm39)		probably null	Het
Dennd1c	T	C	17: 57,373,839 (GRCm39)	I575V	probably damaging	Het
Focad	G	A	4: 88,310,252 (GRCm39)	V1394I	possibly damaging	Het
Gldc	G	A	19: 30,110,893 (GRCm39)	S570F	possibly damaging	Het
Gm12695	T	A	4: 96,646,184 (GRCm39)	Y286F	probably benign	Het
Il7r	A	T	15: 9,510,294 (GRCm39)	V253E	probably damaging	Het
Iqgap3	T	C	3: 88,014,867 (GRCm39)	L861P	probably damaging	Het
Kcnc3	C	T	7: 44,244,810 (GRCm39)	R367W	probably damaging	Het
Lipt1	T	C	1: 37,914,264 (GRCm39)	Y107H	probably damaging	Het
Mep1a	T	C	17: 43,789,975 (GRCm39)	E445G	probably benign	Het
Mpo	A	G	11: 87,688,436 (GRCm39)		probably null	Het
Nme5	T	C	18: 34,711,712 (GRCm39)		probably null	Het
Or52n2	A	T	7: 104,542,243 (GRCm39)	N197K	probably damaging	Het
Or8b54	T	A	9: 38,686,737 (GRCm39)	F62Y	probably damaging	Het
Or8s8	T	A	15: 98,354,186 (GRCm39)		probably benign	Het
Papolg	A	T	11: 23,835,570 (GRCm39)	N83K	possibly damaging	Het
Picalm	A	T	7: 89,810,526 (GRCm39)	D111V	probably damaging	Het
Ppargc1a	T	A	5: 51,655,373 (GRCm39)		probably null	Het
Rnh1	G	T	7: 140,744,409 (GRCm39)		probably benign	Het
Rpgrip1	T	C	14: 52,383,293 (GRCm39)	Y576H	probably damaging	Het
Sobp	T	A	10: 42,898,874 (GRCm39)	Y237F	probably damaging	Het
Spink5	T	C	18: 44,140,711 (GRCm39)	Y637H	probably damaging	Het
St18	G	T	1: 6,914,547 (GRCm39)	G797V	probably damaging	Het
Tbx20	T	C	9: 24,661,617 (GRCm39)	D293G	probably damaging	Het
Tcl1b1	A	T	12: 105,130,663 (GRCm39)	R49*	probably null	Het
Tnfsf13b	A	G	8: 10,081,612 (GRCm39)	Q258R	probably damaging	Het
Vmn1r223	A	T	13: 23,434,237 (GRCm39)	Y277F	probably damaging	Het
Wdr62	T	C	7: 29,953,676 (GRCm39)	T146A	probably benign	Het
Zfp236	G	A	18: 82,686,815 (GRCm39)	A241V	probably benign	Het
Zfp318	T	C	17: 46,711,003 (GRCm39)	S909P	probably damaging	Het

Other mutations in Grid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Grid1	APN	14	35,167,844 (GRCm39)	missense	possibly damaging	0.70
IGL01643:Grid1	APN	14	35,045,392 (GRCm39)	critical splice donor site	probably null
IGL01697:Grid1	APN	14	35,031,214 (GRCm39)	missense	probably benign	0.21
IGL01879:Grid1	APN	14	35,172,327 (GRCm39)	missense	possibly damaging	0.93
IGL01975:Grid1	APN	14	35,045,383 (GRCm39)	missense	probably benign
IGL02515:Grid1	APN	14	35,174,302 (GRCm39)	missense	probably damaging	0.99
IGL02935:Grid1	APN	14	34,544,515 (GRCm39)	missense	possibly damaging	0.86
IGL03279:Grid1	APN	14	34,667,722 (GRCm39)	missense	probably damaging	0.98
IGL03286:Grid1	APN	14	35,242,642 (GRCm39)	splice site	probably benign
IGL03296:Grid1	APN	14	35,302,524 (GRCm39)	missense	possibly damaging	0.52
IGL03305:Grid1	APN	14	34,973,664 (GRCm39)	missense	probably damaging	1.00
R0533:Grid1	UTSW	14	35,031,342 (GRCm39)	missense	possibly damaging	0.84
R0746:Grid1	UTSW	14	34,544,647 (GRCm39)	missense	possibly damaging	0.92
R0811:Grid1	UTSW	14	34,544,576 (GRCm39)	missense	probably benign
R0812:Grid1	UTSW	14	34,544,576 (GRCm39)	missense	probably benign
R1144:Grid1	UTSW	14	35,284,633 (GRCm39)	splice site	probably benign
R1217:Grid1	UTSW	14	34,542,186 (GRCm39)	start codon destroyed	probably null	0.53
R1485:Grid1	UTSW	14	34,544,540 (GRCm39)	missense	probably damaging	1.00
R1529:Grid1	UTSW	14	35,031,250 (GRCm39)	missense	probably benign	0.36
R1606:Grid1	UTSW	14	35,167,922 (GRCm39)	missense	probably damaging	0.96
R1691:Grid1	UTSW	14	35,174,286 (GRCm39)	missense	probably damaging	1.00
R1759:Grid1	UTSW	14	35,167,988 (GRCm39)	missense	possibly damaging	0.92
R2374:Grid1	UTSW	14	35,043,764 (GRCm39)	splice site	probably benign
R2415:Grid1	UTSW	14	35,172,326 (GRCm39)	missense	possibly damaging	0.69
R2866:Grid1	UTSW	14	35,284,516 (GRCm39)	missense	probably damaging	1.00
R3915:Grid1	UTSW	14	35,242,684 (GRCm39)	missense	probably damaging	1.00
R4044:Grid1	UTSW	14	35,172,358 (GRCm39)	splice site	probably benign
R4364:Grid1	UTSW	14	34,667,989 (GRCm39)	missense	probably benign	0.20
R4691:Grid1	UTSW	14	35,291,514 (GRCm39)	missense	probably benign
R4694:Grid1	UTSW	14	34,748,737 (GRCm39)	missense	probably damaging	1.00
R4749:Grid1	UTSW	14	35,302,644 (GRCm39)	missense	possibly damaging	0.50
R4794:Grid1	UTSW	14	34,544,579 (GRCm39)	missense	probably damaging	0.99
R4854:Grid1	UTSW	14	35,043,598 (GRCm39)	missense	probably benign
R5555:Grid1	UTSW	14	35,242,662 (GRCm39)	missense	possibly damaging	0.92
R6005:Grid1	UTSW	14	35,045,369 (GRCm39)	missense	probably damaging	1.00
R6176:Grid1	UTSW	14	35,284,504 (GRCm39)	missense	probably benign	0.00
R6569:Grid1	UTSW	14	35,045,296 (GRCm39)	missense	possibly damaging	0.72
R6911:Grid1	UTSW	14	34,542,185 (GRCm39)	start codon destroyed	probably benign	0.08
R7504:Grid1	UTSW	14	35,284,470 (GRCm39)	missense	probably damaging	1.00
R7744:Grid1	UTSW	14	35,172,036 (GRCm39)	missense	probably damaging	1.00
R7795:Grid1	UTSW	14	35,043,642 (GRCm39)	missense	probably damaging	1.00
R7883:Grid1	UTSW	14	35,172,259 (GRCm39)	splice site	probably null
R7913:Grid1	UTSW	14	35,291,654 (GRCm39)	missense	probably damaging	0.99
R8032:Grid1	UTSW	14	35,045,316 (GRCm39)	missense	probably benign	0.00
R8333:Grid1	UTSW	14	35,291,595 (GRCm39)	missense	possibly damaging	0.82
R8916:Grid1	UTSW	14	35,043,664 (GRCm39)	missense	probably damaging	1.00
R8928:Grid1	UTSW	14	35,302,723 (GRCm39)	missense	probably benign	0.25
R8934:Grid1	UTSW	14	35,043,664 (GRCm39)	missense	probably damaging	1.00
R8935:Grid1	UTSW	14	35,043,664 (GRCm39)	missense	probably damaging	1.00
R8939:Grid1	UTSW	14	35,043,664 (GRCm39)	missense	probably damaging	1.00
R8986:Grid1	UTSW	14	35,043,664 (GRCm39)	missense	probably damaging	1.00
R8993:Grid1	UTSW	14	34,748,899 (GRCm39)	missense	probably benign	0.00
R9238:Grid1	UTSW	14	35,043,664 (GRCm39)	missense	probably damaging	1.00
R9310:Grid1	UTSW	14	34,748,762 (GRCm39)	missense	probably damaging	1.00
R9332:Grid1	UTSW	14	35,045,360 (GRCm39)	missense	probably benign	0.06
R9335:Grid1	UTSW	14	35,043,664 (GRCm39)	missense	probably damaging	1.00
R9336:Grid1	UTSW	14	35,043,664 (GRCm39)	missense	probably damaging	1.00
R9478:Grid1	UTSW	14	35,043,664 (GRCm39)	missense	probably damaging	1.00
R9479:Grid1	UTSW	14	35,043,664 (GRCm39)	missense	probably damaging	1.00
R9496:Grid1	UTSW	14	35,291,571 (GRCm39)	missense	probably damaging	1.00
R9583:Grid1	UTSW	14	35,302,492 (GRCm39)	missense	possibly damaging	0.90
R9601:Grid1	UTSW	14	35,167,814 (GRCm39)	missense	probably damaging	0.99
R9734:Grid1	UTSW	14	35,302,742 (GRCm39)	missense	probably benign
U24488:Grid1	UTSW	14	35,302,534 (GRCm39)	missense	probably benign	0.00
Z1088:Grid1	UTSW	14	35,174,251 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28