Mutagenetix > Incidental Mutation

Incidental Mutation 'R5555:Grid1'

435349

Institutional Source

Beutler Lab

Gene Symbol

Grid1

Ensembl Gene

ENSMUSG00000041078

Gene Name

glutamate receptor, ionotropic, delta 1

Synonyms

GluRdelta1

MMRRC Submission

043112-MU

Accession Numbers

Essential gene?

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

Stock #

R5555 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34542065-35305336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35242662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 672 (S672P)

Ref Sequence

ENSEMBL: ENSMUSP00000044009 (fasta)

Gene Model

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

AlphaFold

Q61627

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043349
AA Change: S672P

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: S672P

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg7	T	C	6: 114,679,014 (GRCm39)	V366A	probably damaging	Het
Cadm2	A	T	16: 66,581,702 (GRCm39)	V192E	probably damaging	Het
Chil6	C	T	3: 106,297,268 (GRCm39)	S291N	possibly damaging	Het
D7Ertd443e	T	C	7: 133,951,320 (GRCm39)	T118A	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dnah1	T	A	14: 31,012,776 (GRCm39)	T1837S	probably damaging	Het
Elapor2	T	A	5: 9,472,296 (GRCm39)		probably null	Het
Ext1	A	G	15: 52,951,539 (GRCm39)	V515A	probably damaging	Het
Fer1l4	T	C	2: 155,890,109 (GRCm39)	E272G	probably damaging	Het
Fras1	T	A	5: 96,825,236 (GRCm39)	H1475Q	probably benign	Het
Gtpbp4	A	G	13: 9,029,463 (GRCm39)		probably null	Het
Hsp90aa1	A	T	12: 110,659,168 (GRCm39)	V543E	probably damaging	Het
Irf5	T	C	6: 29,531,145 (GRCm39)	S4P	probably benign	Het
Kif2b	G	T	11: 91,466,286 (GRCm39)	Q666K	probably benign	Het
Macc1	A	T	12: 119,414,110 (GRCm39)	H762L	probably benign	Het
Map1s	C	T	8: 71,369,751 (GRCm39)	T941M	probably damaging	Het
Mrgprb1	T	A	7: 48,097,523 (GRCm39)	I130F	probably benign	Het
Nbeal1	T	G	1: 60,276,311 (GRCm39)	V684G	possibly damaging	Het
Ngly1	C	T	14: 16,270,508 (GRCm38)	Q173*	probably null	Het
Plcb3	A	T	19: 6,943,587 (GRCm39)	M104K	probably benign	Het
Plcg2	T	A	8: 118,339,734 (GRCm39)	Y1048*	probably null	Het
Ptprf	T	C	4: 118,082,121 (GRCm39)	Y1039C	probably damaging	Het
Rab38	A	G	7: 88,079,695 (GRCm39)	Y29C	probably damaging	Het
Rcan2	T	A	17: 44,347,921 (GRCm39)	V210E	probably damaging	Het
Rptn	A	T	3: 93,304,008 (GRCm39)	Q447L	probably benign	Het
Scel	G	A	14: 103,839,642 (GRCm39)	R495K	probably benign	Het
Scn11a	G	T	9: 119,584,304 (GRCm39)	P1437Q	probably damaging	Het
Sim2	A	G	16: 93,910,315 (GRCm39)	D239G	probably damaging	Het
Skap2	A	G	6: 51,836,998 (GRCm39)	Y356H	probably damaging	Het
Skint11	A	G	4: 114,051,798 (GRCm39)	T49A	probably benign	Het
Snx33	G	A	9: 56,832,681 (GRCm39)	H463Y	probably benign	Het
Steap2	T	C	5: 5,727,544 (GRCm39)	T264A	possibly damaging	Het
Stk40	T	A	4: 126,028,852 (GRCm39)	V238E	probably damaging	Het
Sun2	T	C	15: 79,618,328 (GRCm39)	D277G	probably benign	Het
Ttll9	T	C	2: 152,832,020 (GRCm39)		probably null	Het
Vmn1r54	G	A	6: 90,246,347 (GRCm39)	C87Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATATGGAGGTCTGGCTCCAG -3'
(R):5'- GTACCCAGATTCCAATTCTTGC -3'

Sequencing Primer
(F):5'- CCAGGCTGAGGGATTGATGC -3'
(R):5'- GCCTACCTTCCTGATACCTTCTGAAG -3'

Posted On

2016-10-24