Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:Grid1'

104304

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 #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

34542065-35305336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35031214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 269 (D269G)

Ref Sequence

ENSEMBL: ENSMUSP00000044009 (fasta)

Gene Model

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

AlphaFold

Q61627

Predicted Effect

probably benign
Transcript: ENSMUST00000043349
AA Change: D269G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: D269G

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
9430015G10Rik	T	A	4: 156,203,613 (GRCm39)		probably benign	Het
Arid2	A	C	15: 96,259,453 (GRCm39)		probably null	Het
Cadm1	C	A	9: 47,761,622 (GRCm39)	D435E	probably damaging	Het
Dagla	A	G	19: 10,248,562 (GRCm39)	F33L	probably benign	Het
Edrf1	A	G	7: 133,245,459 (GRCm39)	H199R	probably benign	Het
F5	T	A	1: 164,021,621 (GRCm39)	N1365K	probably benign	Het
Gipc2	T	G	3: 151,843,245 (GRCm39)	I131L	probably benign	Het
Gpc1	C	T	1: 92,786,132 (GRCm39)	S507F	possibly damaging	Het
Ighv12-3	A	T	12: 114,330,573 (GRCm39)	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871 (GRCm39)	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,536,965 (GRCm39)	C252S	probably damaging	Het
Mast4	A	C	13: 102,904,401 (GRCm39)	N645K	probably damaging	Het
Megf9	T	A	4: 70,351,709 (GRCm39)	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,953,477 (GRCm39)	D586G	possibly damaging	Het
Ninl	A	T	2: 150,781,867 (GRCm39)	L1206Q	probably damaging	Het
Oog2	T	A	4: 143,921,754 (GRCm39)	N221K	possibly damaging	Het
Or13a17	T	C	7: 140,271,565 (GRCm39)	V249A	possibly damaging	Het
Or5b96	T	A	19: 12,867,831 (GRCm39)	T37S	probably benign	Het
Or6c8b	C	A	10: 128,882,371 (GRCm39)	C187F	probably damaging	Het
Pik3ap1	G	A	19: 41,313,018 (GRCm39)	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,356,972 (GRCm39)	E181G	probably benign	Het
Scaf11	A	C	15: 96,321,504 (GRCm39)		probably benign	Het
Skic3	C	T	13: 76,276,852 (GRCm39)	L479F	probably benign	Het
Skint7	T	A	4: 111,837,654 (GRCm39)		probably benign	Het
Sox14	T	C	9: 99,757,716 (GRCm39)	I8V	probably benign	Het
Spata31f3	T	A	4: 42,874,163 (GRCm39)	M2L	probably benign	Het
Stim1	A	T	7: 102,075,176 (GRCm39)		probably benign	Het
Ttll3	T	C	6: 113,376,690 (GRCm39)	S357P	probably benign	Het
Vmn1r178	T	A	7: 23,593,114 (GRCm39)	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,920,460 (GRCm39)		probably benign	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
IGL01016:Grid1	APN	14	34,544,596 (GRCm39)	nonsense	probably null
IGL01643:Grid1	APN	14	35,045,392 (GRCm39)	critical splice donor site	probably null
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

2014-01-21