Incidental Mutation 'IGL01016:Grid1'
ID53968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grid1
Ensembl Gene ENSMUSG00000041078
Gene Nameglutamate receptor, ionotropic, delta 1
SynonymsGluRdelta1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01016
Quality Score
Status
Chromosome14
Chromosomal Location34820108-35583379 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 34822639 bp
ZygosityHeterozygous
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]
Predicted Effect probably null
Transcript: ENSMUST00000043349
AA Change: Q56*
SMART Domains Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: Q56*

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh7 G A 1: 110,108,956 probably null Het
Dennd1c T C 17: 57,066,839 I575V probably damaging Het
Focad G A 4: 88,392,015 V1394I possibly damaging Het
Gldc G A 19: 30,133,493 S570F possibly damaging Het
Gm12695 T A 4: 96,757,947 Y286F probably benign Het
Il7r A T 15: 9,510,208 V253E probably damaging Het
Iqgap3 T C 3: 88,107,560 L861P probably damaging Het
Kcnc3 C T 7: 44,595,386 R367W probably damaging Het
Lipt1 T C 1: 37,875,183 Y107H probably damaging Het
Mep1a T C 17: 43,479,084 E445G probably benign Het
Mpo A G 11: 87,797,610 probably null Het
Nme5 T C 18: 34,578,659 probably null Het
Olfr281 T A 15: 98,456,305 probably benign Het
Olfr666 A T 7: 104,893,036 N197K probably damaging Het
Olfr921 T A 9: 38,775,441 F62Y probably damaging Het
Papolg A T 11: 23,885,570 N83K possibly damaging Het
Picalm A T 7: 90,161,318 D111V probably damaging Het
Ppargc1a T A 5: 51,498,031 probably null Het
Rnh1 G T 7: 141,164,496 probably benign Het
Rpgrip1 T C 14: 52,145,836 Y576H probably damaging Het
Sobp T A 10: 43,022,878 Y237F probably damaging Het
Spink5 T C 18: 44,007,644 Y637H probably damaging Het
St18 G T 1: 6,844,323 G797V probably damaging Het
Tbx20 T C 9: 24,750,321 D293G probably damaging Het
Tcl1b1 A T 12: 105,164,404 R49* probably null Het
Tnfsf13b A G 8: 10,031,612 Q258R probably damaging Het
Vmn1r223 A T 13: 23,250,067 Y277F probably damaging Het
Wdr62 T C 7: 30,254,251 T146A probably benign Het
Zfp236 G A 18: 82,668,690 A241V probably benign Het
Zfp318 T C 17: 46,400,077 S909P probably damaging Het
Other mutations in Grid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Grid1 APN 14 35445887 missense possibly damaging 0.70
IGL01643:Grid1 APN 14 35323435 critical splice donor site probably null
IGL01697:Grid1 APN 14 35309257 missense probably benign 0.21
IGL01879:Grid1 APN 14 35450370 missense possibly damaging 0.93
IGL01975:Grid1 APN 14 35323426 missense probably benign
IGL02515:Grid1 APN 14 35452345 missense probably damaging 0.99
IGL02935:Grid1 APN 14 34822558 missense possibly damaging 0.86
IGL03279:Grid1 APN 14 34945765 missense probably damaging 0.98
IGL03286:Grid1 APN 14 35520685 splice site probably benign
IGL03296:Grid1 APN 14 35580567 missense possibly damaging 0.52
IGL03305:Grid1 APN 14 35251707 missense probably damaging 1.00
R0533:Grid1 UTSW 14 35309385 missense possibly damaging 0.84
R0746:Grid1 UTSW 14 34822690 missense possibly damaging 0.92
R0811:Grid1 UTSW 14 34822619 missense probably benign
R0812:Grid1 UTSW 14 34822619 missense probably benign
R1144:Grid1 UTSW 14 35562676 splice site probably benign
R1217:Grid1 UTSW 14 34820229 start codon destroyed probably null 0.53
R1485:Grid1 UTSW 14 34822583 missense probably damaging 1.00
R1529:Grid1 UTSW 14 35309293 missense probably benign 0.36
R1606:Grid1 UTSW 14 35445965 missense probably damaging 0.96
R1691:Grid1 UTSW 14 35452329 missense probably damaging 1.00
R1759:Grid1 UTSW 14 35446031 missense possibly damaging 0.92
R2374:Grid1 UTSW 14 35321807 splice site probably benign
R2415:Grid1 UTSW 14 35450369 missense possibly damaging 0.69
R2866:Grid1 UTSW 14 35562559 missense probably damaging 1.00
R3915:Grid1 UTSW 14 35520727 missense probably damaging 1.00
R4044:Grid1 UTSW 14 35450401 splice site probably benign
R4364:Grid1 UTSW 14 34946032 missense probably benign 0.20
R4691:Grid1 UTSW 14 35569557 missense probably benign
R4694:Grid1 UTSW 14 35026780 missense probably damaging 1.00
R4749:Grid1 UTSW 14 35580687 missense possibly damaging 0.50
R4794:Grid1 UTSW 14 34822622 missense probably damaging 0.99
R4854:Grid1 UTSW 14 35321641 missense probably benign
R5555:Grid1 UTSW 14 35520705 missense possibly damaging 0.92
R6005:Grid1 UTSW 14 35323412 missense probably damaging 1.00
R6176:Grid1 UTSW 14 35562547 missense probably benign 0.00
R6569:Grid1 UTSW 14 35323339 missense possibly damaging 0.72
R6911:Grid1 UTSW 14 34820228 start codon destroyed probably benign 0.08
R7504:Grid1 UTSW 14 35562513 missense probably damaging 1.00
R7744:Grid1 UTSW 14 35450079 missense probably damaging 1.00
R7795:Grid1 UTSW 14 35321685 missense probably damaging 1.00
R7883:Grid1 UTSW 14 35450302 splice site probably null
R7913:Grid1 UTSW 14 35569697 missense probably damaging 0.99
R8032:Grid1 UTSW 14 35323359 missense probably benign 0.00
R8333:Grid1 UTSW 14 35569638 missense possibly damaging 0.82
R8916:Grid1 UTSW 14 35321707 missense probably damaging 1.00
R8934:Grid1 UTSW 14 35321707 missense probably damaging 1.00
R8935:Grid1 UTSW 14 35321707 missense probably damaging 1.00
R8939:Grid1 UTSW 14 35321707 missense probably damaging 1.00
U24488:Grid1 UTSW 14 35580577 missense probably benign 0.00
Z1088:Grid1 UTSW 14 35452294 missense probably damaging 1.00
Posted On2013-06-28