Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03279:Grid1'

415540

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 #

IGL03279

Quality Score

Status

Chromosome

Chromosomal Location

34542065-35305336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34667722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 83 (M83K)

Ref Sequence

ENSEMBL: ENSMUSP00000044009 (fasta)

Gene Model

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

AlphaFold

Q61627

Predicted Effect

probably damaging
Transcript: ENSMUST00000043349
AA Change: M83K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: M83K

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	A	11: 119,904,504 (GRCm39)	D224V	probably damaging	Het
Abca4	C	A	3: 121,935,381 (GRCm39)	N1526K	probably benign	Het
Aif1	T	A	17: 35,390,523 (GRCm39)	K76*	probably null	Het
Arap2	A	G	5: 62,779,253 (GRCm39)	S1446P	probably damaging	Het
Cyb5rl	A	T	4: 106,941,325 (GRCm39)	E250V	possibly damaging	Het
Dock3	T	C	9: 106,788,447 (GRCm39)		probably benign	Het
Dppa2	A	G	16: 48,132,028 (GRCm39)	T42A	possibly damaging	Het
Drosha	C	T	15: 12,859,478 (GRCm39)	P562L	probably benign	Het
Egfl7	C	A	2: 26,480,719 (GRCm39)	H126N	probably benign	Het
Gm5852	T	C	3: 93,634,584 (GRCm39)		noncoding transcript	Het
Gpr161	T	C	1: 165,138,098 (GRCm39)	F228S	probably damaging	Het
Gsdma2	T	C	11: 98,548,549 (GRCm39)	S434P	unknown	Het
Hao2	T	A	3: 98,787,712 (GRCm39)	N239I	possibly damaging	Het
Hsd17b14	A	T	7: 45,215,617 (GRCm39)	I206F	possibly damaging	Het
Kansl1l	A	T	1: 66,774,825 (GRCm39)	V667E	probably damaging	Het
Kdm3a	T	C	6: 71,588,659 (GRCm39)	D450G	probably benign	Het
Lmo7	C	A	14: 102,137,944 (GRCm39)	A882E	probably benign	Het
P4ha3	A	G	7: 99,949,893 (GRCm39)	Y254C	probably damaging	Het
Pcdh15	A	G	10: 74,152,904 (GRCm39)	Y408C	probably damaging	Het
Pglyrp3	T	C	3: 91,933,834 (GRCm39)	Y160H	probably damaging	Het
Pnma5	G	A	X: 72,079,605 (GRCm39)	T359I	probably benign	Het
Ptbp3	A	T	4: 59,476,937 (GRCm39)	H440Q	possibly damaging	Het
Rbx1	A	G	15: 81,352,399 (GRCm39)	N41S	probably damaging	Het
Rpl3	G	A	15: 79,962,560 (GRCm39)	T340I	probably benign	Het
Scrn1	G	A	6: 54,525,322 (GRCm39)	R16*	probably null	Het
Sema6a	A	T	18: 47,433,157 (GRCm39)	C91*	probably null	Het
Slco6d1	T	A	1: 98,394,405 (GRCm39)	V363E	probably damaging	Het
Stk38	A	G	17: 29,203,179 (GRCm39)		probably benign	Het
Tanc2	G	A	11: 105,803,918 (GRCm39)		probably null	Het
Thada	A	G	17: 84,742,988 (GRCm39)	F812S	probably benign	Het
Tubb4b-ps1	A	G	5: 7,229,630 (GRCm39)		probably benign	Het
Veph1	T	C	3: 66,162,443 (GRCm39)	T72A	probably damaging	Het
Vps52	T	A	17: 34,176,848 (GRCm39)	D67E	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
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
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

2016-08-02