Incidental Mutation 'IGL03242:Olfr683'
ID414876
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: 0.074) question?
Stock #IGL03242
Quality Score
Status
Chromosome7
Chromosomal Location105140839-105147012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 105144266 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 15 (S15F)
Ref Sequence ENSEMBL: ENSMUSP00000060527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061284] [ENSMUST00000209879]
Predicted Effect probably benign
Transcript: ENSMUST00000061284
AA Change: S15F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000060527
Gene: ENSMUSG00000044120
AA Change: S15F

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: S9F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T C 6: 48,932,545 F575L possibly damaging Het
4930562C15Rik T C 16: 4,849,325 W221R unknown Het
Ank2 A G 3: 126,928,805 F1000L possibly damaging Het
Bahcc1 T C 11: 120,268,300 probably benign Het
BC024139 T C 15: 76,120,320 M679V probably benign Het
BC027072 A G 17: 71,750,271 S804P probably benign Het
Carmil2 A G 8: 105,691,320 probably benign Het
Catsperg2 A G 7: 29,725,479 probably benign Het
Chrnb4 A T 9: 55,035,528 I154K probably damaging Het
Clec2e A C 6: 129,095,026 L130W probably damaging Het
Coro2b G T 9: 62,428,961 Y281* probably null Het
Dlk2 A G 17: 46,302,977 Y386C probably benign Het
Dnah7a A T 1: 53,620,723 F709I probably benign Het
Exoc1 T C 5: 76,559,007 L467P probably damaging Het
Fkbp2 A G 19: 6,978,612 V75A probably benign Het
Glud1 T C 14: 34,334,280 F304L probably benign Het
Gm11639 A C 11: 105,106,404 E140A probably damaging Het
Gsr T A 8: 33,685,599 V291E probably benign Het
Kap A G 6: 133,851,800 probably benign Het
Kmt2a G T 9: 44,848,392 T720N probably damaging Het
Lrrtm4 T C 6: 80,022,088 I161T probably benign Het
Lyst T A 13: 13,656,881 L1630* probably null Het
Med13l A G 5: 118,747,445 S1488G probably benign Het
Mlxip A G 5: 123,440,061 K147E probably damaging Het
Nalcn T C 14: 123,321,487 E810G possibly damaging Het
Olfr474 T C 7: 107,955,481 V280A possibly damaging Het
Olfr710 A G 7: 106,944,918 F28L possibly damaging Het
Piezo2 T C 18: 63,011,538 probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Serpina3j G A 12: 104,319,701 A372T possibly damaging Het
Slc28a3 G A 13: 58,574,249 Q274* probably null Het
Ssfa2 C T 2: 79,643,471 R189* probably null Het
Stk36 T C 1: 74,623,352 F543S possibly damaging Het
Tfrc T C 16: 32,630,112 S690P probably damaging Het
Tg C A 15: 66,683,798 Q780K probably damaging Het
Top1 T A 2: 160,715,733 H578Q probably damaging Het
Treh A G 9: 44,685,337 T463A possibly damaging Het
Treml1 G A 17: 48,365,988 probably benign Het
Trpm2 A G 10: 77,917,734 V1312A probably benign Het
Ttc41 T A 10: 86,776,819 *1319K probably null Het
Tulp2 A G 7: 45,521,858 I354M probably damaging Het
Ugt2b35 T C 5: 87,007,395 L363P probably damaging Het
Usp13 A T 3: 32,902,069 M496L probably benign Het
Virma T C 4: 11,527,669 S1187P possibly damaging Het
Wdr76 T A 2: 121,542,470 C593S probably damaging Het
Zfp446 G A 7: 12,979,325 A97T probably damaging Het
Other mutations in Olfr683
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01814:Olfr683 APN 7 105143604 missense possibly damaging 0.48
IGL01984:Olfr683 APN 7 105143716 missense probably benign 0.00
IGL02456:Olfr683 APN 7 105143759 missense probably damaging 0.99
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
Posted On2016-08-02