Incidental Mutation 'IGL01984:Olfr683'
ID181823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr683
Ensembl Gene ENSMUSG00000044120
Gene Nameolfactory receptor 683
SynonymsGA_x6K02T2PBJ9-7773007-7772066, MOR40-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01984
Quality Score
Status
Chromosome7
Chromosomal Location105140839-105147012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 105143716 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 192 (D192E)
Ref Sequence ENSEMBL: ENSMUSP00000148110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061284] [ENSMUST00000209879]
Predicted Effect probably benign
Transcript: ENSMUST00000061284
AA Change: D198E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000060527
Gene: ENSMUSG00000044120
AA Change: D198E

DomainStartEndE-ValueType
Pfam:7tm_4 40 318 8.5e-73 PFAM
Pfam:7TM_GPCR_Srsx 44 315 3.5e-8 PFAM
Pfam:7tm_1 50 300 1.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209879
AA Change: D192E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211388
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 90,063,230 L24F probably benign Het
Adamts16 T C 13: 70,787,147 D442G probably damaging Het
Ankmy1 T C 1: 92,883,765 T634A probably damaging Het
Anxa3 A T 5: 96,834,771 probably benign Het
Ccnh T C 13: 85,206,151 L202P probably damaging Het
Clcn3 A T 8: 60,929,580 S325T probably damaging Het
Clec2d A T 6: 129,184,229 E96D possibly damaging Het
Csn1s1 A T 5: 87,676,510 probably benign Het
Dcun1d5 T A 9: 7,205,307 Y189N possibly damaging Het
Dnah7a T C 1: 53,702,015 probably null Het
Erg T G 16: 95,409,927 D15A probably damaging Het
Gm11639 T A 11: 104,738,308 D937E probably benign Het
Gm17018 C T 19: 45,577,030 H148Y probably benign Het
Gm21759 T A 5: 8,180,547 probably benign Het
Heatr5b C T 17: 78,796,497 R1083Q possibly damaging Het
Ints3 A G 3: 90,392,226 S1012P possibly damaging Het
Klhl3 C T 13: 58,011,243 probably benign Het
Lama4 T A 10: 39,075,529 probably null Het
Magi1 A T 6: 93,708,174 V740D probably damaging Het
Nme8 C A 13: 19,688,980 V165L probably damaging Het
Odf2l G T 3: 145,139,829 E5* probably null Het
Olfr115 T C 17: 37,623,661 probably benign Het
Olfr1297 A G 2: 111,621,582 L164S probably benign Het
Pcnx4 T C 12: 72,574,409 V1001A probably benign Het
Plaa A G 4: 94,571,685 probably null Het
Prkdc G A 16: 15,708,779 A1305T probably benign Het
Rnps1 T C 17: 24,424,397 probably benign Het
St8sia5 T C 18: 77,248,461 F197L probably benign Het
Sult3a1 G T 10: 33,879,209 G257* probably null Het
Svep1 A C 4: 58,068,877 Y2970D possibly damaging Het
Tns3 G T 11: 8,548,992 Y30* probably null Het
Ubr1 G T 2: 120,921,386 P791T probably damaging Het
Zfp592 T C 7: 81,038,644 V1039A probably benign Het
Other mutations in Olfr683
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01814:Olfr683 APN 7 105143604 missense possibly damaging 0.48
IGL02456:Olfr683 APN 7 105143759 missense probably damaging 0.99
IGL03242:Olfr683 APN 7 105144266 missense probably benign 0.00
R0234:Olfr683 UTSW 7 105144074 missense probably damaging 1.00
R0234:Olfr683 UTSW 7 105144074 missense probably damaging 1.00
R1282:Olfr683 UTSW 7 105143652 missense probably benign 0.01
R1485:Olfr683 UTSW 7 105143681 missense probably benign 0.00
R1653:Olfr683 UTSW 7 105143870 missense possibly damaging 0.80
R2130:Olfr683 UTSW 7 105143550 missense probably benign 0.03
R2355:Olfr683 UTSW 7 105143813 missense probably benign 0.11
R4491:Olfr683 UTSW 7 105143776 nonsense probably null
R4826:Olfr683 UTSW 7 105143968 missense probably damaging 0.99
R4980:Olfr683 UTSW 7 105144224 missense probably benign
R5934:Olfr683 UTSW 7 105143660 missense probably benign 0.12
R6354:Olfr683 UTSW 7 105143708 missense probably benign 0.04
R7371:Olfr683 UTSW 7 105143879 missense possibly damaging 0.82
R7463:Olfr683 UTSW 7 105143937 missense probably benign 0.00
R7753:Olfr683 UTSW 7 105143800 missense probably benign 0.07
R8208:Olfr683 UTSW 7 105143418 missense probably damaging 0.99
Posted On2014-05-07