Incidental Mutation 'IGL01814:Olfr683'
ID154354
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: 0.066) question?
Stock #IGL01814
Quality Score
Status
Chromosome7
Chromosomal Location105140839-105147012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105143604 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 236 (I236V)
Ref Sequence ENSEMBL: ENSMUSP00000060527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061284] [ENSMUST00000209879]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061284
AA Change: I236V

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000060527
Gene: ENSMUSG00000044120
AA Change: I236V

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: I230V

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 T A 18: 67,405,474 N738I probably benign Het
B3galnt2 A G 13: 13,987,353 S1G probably damaging Het
Btbd9 T C 17: 30,299,535 I484V probably benign Het
Chd6 T C 2: 161,059,929 K8R probably benign Het
Csmd1 A C 8: 16,501,375 L279R probably damaging Het
Dmxl1 G T 18: 49,864,868 V708F probably damaging Het
Dnajc24 C T 2: 105,981,084 G49R probably benign Het
Dnhd1 T C 7: 105,652,030 M198T probably benign Het
Dtx3l T A 16: 35,931,502 D683V probably benign Het
Duox1 A G 2: 122,346,272 T1425A probably damaging Het
Enpp3 G A 10: 24,792,025 P510S possibly damaging Het
Iars2 G T 1: 185,302,775 Y590* probably null Het
Itgb7 T C 15: 102,223,417 R244G possibly damaging Het
Itpr2 T A 6: 146,232,546 R1820S probably benign Het
Matn3 T C 12: 8,952,091 V101A probably damaging Het
Neurod1 C T 2: 79,454,659 V127M probably damaging Het
Olfr1505 T A 19: 13,919,528 C169* probably null Het
Pde10a A G 17: 8,929,107 M1V probably null Het
Pdk4 A G 6: 5,491,828 probably null Het
Ptchd4 A T 17: 42,503,286 I693F possibly damaging Het
Scml4 C T 10: 42,935,045 R194C probably damaging Het
Slc24a4 T C 12: 102,254,618 V436A probably benign Het
Slc9a3 C A 13: 74,165,972 R800S probably damaging Het
Smchd1 C A 17: 71,378,187 M1415I probably benign Het
Syndig1 T A 2: 149,899,770 I92N probably damaging Het
Tchhl1 T C 3: 93,470,349 V120A possibly damaging Het
Thumpd3 C T 6: 113,063,151 T332I possibly damaging Het
Tmem101 G A 11: 102,153,458 T201M possibly damaging Het
Trip11 T C 12: 101,884,488 T1106A probably damaging Het
Ttc41 C T 10: 86,731,026 R519C probably damaging Het
Xirp1 T A 9: 120,017,919 M633L probably damaging Het
Zfp938 A T 10: 82,226,218 D189E probably benign Het
Other mutations in Olfr683
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01984:Olfr683 APN 7 105143716 missense probably benign 0.00
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 On2014-02-04