Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03296:Grid1'

416088

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 #

IGL03296

Quality Score

Status

Chromosome

Chromosomal Location

34542065-35305336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35302524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 930 (F930L)

Ref Sequence

ENSEMBL: ENSMUSP00000044009 (fasta)

Gene Model

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

AlphaFold

Q61627

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043349
AA Change: F930L

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: F930L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173307

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	T	C	17: 43,632,044 (GRCm39)		probably benign	Het
Arhgef26	A	G	3: 62,330,926 (GRCm39)	T547A	probably damaging	Het
Cdc14a	T	A	3: 116,090,807 (GRCm39)	H375L	probably benign	Het
Ddx43	T	C	9: 78,306,380 (GRCm39)		probably null	Het
Dennd6a	T	C	14: 26,338,115 (GRCm39)		probably null	Het
Dock4	A	T	12: 40,783,256 (GRCm39)	E730V	possibly damaging	Het
Gpr55	A	G	1: 85,868,753 (GRCm39)	L276S	probably damaging	Het
Inf2	C	T	12: 112,570,642 (GRCm39)	Q394*	probably null	Het
Ints11	T	C	4: 155,969,780 (GRCm39)		probably null	Het
Kcnd2	T	C	6: 21,714,208 (GRCm39)	V397A	probably damaging	Het
Lmntd1	A	G	6: 145,359,203 (GRCm39)	F316L	probably benign	Het
Loxl4	A	T	19: 42,587,262 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mindy4	T	C	6: 55,274,738 (GRCm39)		probably null	Het
Mybpc2	A	T	7: 44,156,308 (GRCm39)	I835N	probably damaging	Het
Myo5a	T	C	9: 75,023,484 (GRCm39)	I15T	probably damaging	Het
Nfkb2	A	T	19: 46,298,367 (GRCm39)	D557V	probably damaging	Het
Or11g27	A	T	14: 50,771,402 (GRCm39)	I178L	possibly damaging	Het
Pdk3	T	C	X: 92,875,503 (GRCm39)	Y19C	probably damaging	Het
Pdpr	G	T	8: 111,841,430 (GRCm39)	V221F	probably damaging	Het
Rab6a	T	C	7: 100,283,931 (GRCm39)	Y128H	probably benign	Het
Rars1	A	T	11: 35,707,523 (GRCm39)	Y429*	probably null	Het
Rsl24d1	T	C	9: 73,025,229 (GRCm39)		probably null	Het
Slc7a9	T	C	7: 35,151,852 (GRCm39)	F49S	probably damaging	Het
St14	C	T	9: 31,020,008 (GRCm39)	E34K	probably damaging	Het
Tcp10b	A	G	17: 13,292,443 (GRCm39)	T289A	probably damaging	Het
Tenm2	T	C	11: 35,942,852 (GRCm39)		probably null	Het
Tshz3	A	T	7: 36,470,761 (GRCm39)	T917S	probably damaging	Het
Vrtn	T	A	12: 84,695,622 (GRCm39)	I124N	probably damaging	Het
Vwa8	A	G	14: 79,420,540 (GRCm39)	E1747G	probably damaging	Het
Wdr33	A	T	18: 31,960,444 (GRCm39)	Q36L	probably benign	Het
Xpo5	C	T	17: 46,532,320 (GRCm39)	R452*	probably null	Het
Zdhhc8	A	T	16: 18,044,587 (GRCm39)	L311Q	possibly 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
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
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
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

2016-08-02