Incidental Mutation 'IGL03286:Grid1'
ID 415742
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 # IGL03286
Quality Score
Status
Chromosome 14
Chromosomal Location 34542065-35305336 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 35242642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043349]
AlphaFold Q61627
Predicted Effect probably benign
Transcript: ENSMUST00000043349
SMART Domains Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 G A 1: 58,088,543 (GRCm39) G110S probably benign Het
Arhgap32 T C 9: 32,170,816 (GRCm39) S1548P probably benign Het
Cacna1s A G 1: 136,005,397 (GRCm39) D147G probably benign Het
Calcoco2 A G 11: 95,994,098 (GRCm39) V116A possibly damaging Het
Chd5 A T 4: 152,469,952 (GRCm39) M1842L probably benign Het
Comt T C 16: 18,230,490 (GRCm39) D73G probably damaging Het
Ctnna1 A G 18: 35,308,206 (GRCm39) I175M probably benign Het
Dnah6 A T 6: 73,060,068 (GRCm39) Y2839N probably damaging Het
Dph7 T A 2: 24,856,628 (GRCm39) H193Q probably damaging Het
Eif2b5 A G 16: 20,321,012 (GRCm39) D258G probably damaging Het
Eml5 T C 12: 98,826,762 (GRCm39) D630G probably damaging Het
Ext2 C T 2: 93,537,617 (GRCm39) V590M probably damaging Het
Fchsd2 T C 7: 100,908,982 (GRCm39) probably null Het
Gm13272 A G 4: 88,698,586 (GRCm39) Q167R probably benign Het
Gm21834 A G 17: 58,048,922 (GRCm39) V98A possibly damaging Het
H2-DMa T A 17: 34,356,083 (GRCm39) probably null Het
Ighv5-17 T G 12: 113,822,797 (GRCm39) E108A possibly damaging Het
Invs A G 4: 48,382,261 (GRCm39) T144A probably benign Het
Ipo9 A G 1: 135,334,816 (GRCm39) probably benign Het
Itga4 A T 2: 79,119,706 (GRCm39) Y504F probably damaging Het
Krt5 A G 15: 101,615,983 (GRCm39) F544S unknown Het
Larp4 A G 15: 99,883,967 (GRCm39) Y67C probably damaging Het
Msh2 T C 17: 87,990,095 (GRCm39) M261T possibly damaging Het
Nav1 A T 1: 135,382,274 (GRCm39) C1367S probably benign Het
Nox4 T A 7: 87,019,349 (GRCm39) probably benign Het
Noxa1 A G 2: 24,975,732 (GRCm39) probably null Het
Or5b98 A C 19: 12,931,532 (GRCm39) Y193S probably benign Het
Or6p1 A C 1: 174,258,743 (GRCm39) I250L probably benign Het
Pde4d T A 13: 110,091,040 (GRCm39) probably benign Het
Pdlim2 C T 14: 70,411,925 (GRCm39) G36S possibly damaging Het
Plekhm2 A G 4: 141,361,658 (GRCm39) S262P possibly damaging Het
Pnpla6 C A 8: 3,581,473 (GRCm39) T582K probably damaging Het
Rap1b A T 10: 117,654,480 (GRCm39) L120* probably null Het
Rft1 C T 14: 30,383,323 (GRCm39) T121I probably benign Het
Scn1a A G 2: 66,107,920 (GRCm39) I1613T probably damaging Het
Slc47a2 T G 11: 61,233,293 (GRCm39) E79A possibly damaging Het
Slc9a4 A G 1: 40,619,928 (GRCm39) I85V probably null Het
Slfn8 A T 11: 82,904,294 (GRCm39) F365L probably damaging Het
Smcr8 T A 11: 60,668,853 (GRCm39) probably benign Het
Sntb1 T C 15: 55,655,442 (GRCm39) D258G possibly damaging Het
Sorbs1 A G 19: 40,332,858 (GRCm39) I520T probably damaging Het
Sptbn2 T C 19: 4,797,860 (GRCm39) S1896P probably damaging Het
Sptlc3 G A 2: 139,431,579 (GRCm39) G367D probably damaging Het
Stab1 C T 14: 30,881,283 (GRCm39) probably benign Het
Tars2 T C 3: 95,662,067 (GRCm39) probably benign Het
Tchhl1 C T 3: 93,378,430 (GRCm39) A378V probably benign Het
Tet3 A T 6: 83,352,760 (GRCm39) F1012Y probably damaging Het
Tuba8 A G 6: 121,199,913 (GRCm39) D199G possibly damaging Het
Vmn2r110 T A 17: 20,804,468 (GRCm39) T151S possibly damaging Het
Xirp2 T C 2: 67,346,654 (GRCm39) I2965T probably damaging Het
Zfp688 T A 7: 127,018,703 (GRCm39) M141L probably benign Het
Other mutations in Grid1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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