Incidental Mutation 'IGL03296:Grid1'
ID416088
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: 0.070) question?
Stock #IGL03296
Quality Score
Status
Chromosome14
Chromosomal Location34820108-35583379 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35580567 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 930 (F930L)
Ref Sequence ENSEMBL: ENSMUSP00000044009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043349]
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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T C 17: 43,321,153 probably benign Het
Arhgef26 A G 3: 62,423,505 T547A probably damaging Het
Cdc14a T A 3: 116,297,158 H375L probably benign Het
Ddx43 T C 9: 78,399,098 probably null Het
Dennd6a T C 14: 26,616,960 probably null Het
Dock4 A T 12: 40,733,257 E730V possibly damaging Het
Gpr55 A G 1: 85,941,031 L276S probably damaging Het
Inf2 C T 12: 112,604,208 Q394* probably null Het
Ints11 T C 4: 155,885,323 probably null Het
Kcnd2 T C 6: 21,714,209 V397A probably damaging Het
Lmntd1 A G 6: 145,413,477 F316L probably benign Het
Loxl4 A T 19: 42,598,823 probably benign Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mindy4 T C 6: 55,297,753 probably null Het
Mybpc2 A T 7: 44,506,884 I835N probably damaging Het
Myo5a T C 9: 75,116,202 I15T probably damaging Het
Nfkb2 A T 19: 46,309,928 D557V probably damaging Het
Olfr743 A T 14: 50,533,945 I178L possibly damaging Het
Pdk3 T C X: 93,831,897 Y19C probably damaging Het
Pdpr G T 8: 111,114,798 V221F probably damaging Het
Rab6a T C 7: 100,634,724 Y128H probably benign Het
Rars A T 11: 35,816,696 Y429* probably null Het
Rsl24d1 T C 9: 73,117,947 probably null Het
Slc7a9 T C 7: 35,452,427 F49S probably damaging Het
St14 C T 9: 31,108,712 E34K probably damaging Het
Tcp10b A G 17: 13,073,556 T289A probably damaging Het
Tenm2 T C 11: 36,052,025 probably null Het
Tshz3 A T 7: 36,771,336 T917S probably damaging Het
Vrtn T A 12: 84,648,848 I124N probably damaging Het
Vwa8 A G 14: 79,183,100 E1747G probably damaging Het
Wdr33 A T 18: 31,827,391 Q36L probably benign Het
Xpo5 C T 17: 46,221,394 R452* probably null Het
Zdhhc8 A T 16: 18,226,723 L311Q possibly damaging Het
Other mutations in Grid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Grid1 APN 14 35445887 missense possibly damaging 0.70
IGL01016:Grid1 APN 14 34822639 nonsense probably null
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
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
U24488:Grid1 UTSW 14 35580577 missense probably benign 0.00
Z1088:Grid1 UTSW 14 35452294 missense probably damaging 1.00
Posted On2016-08-02