Incidental Mutation 'IGL02574:Olfr103'
ID299132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr103
Ensembl Gene ENSMUSG00000049618
Gene Nameolfactory receptor 103
SynonymsMOR250-3, GA_x6K02T2PSCP-1798423-1797482, MOR250-8_p
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02574
Quality Score
Status
Chromosome17
Chromosomal Location37334303-37339698 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 37336524 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 236 (A236E)
Ref Sequence ENSEMBL: ENSMUSP00000134539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058826] [ENSMUST00000173472]
Predicted Effect probably damaging
Transcript: ENSMUST00000058826
AA Change: A236E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094934
Gene: ENSMUSG00000049618
AA Change: A236E

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 3.5e-52 PFAM
Pfam:7tm_1 39 289 3.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173472
AA Change: A236E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618
AA Change: A236E

DomainStartEndE-ValueType
Pfam:7tm_1 39 289 2.8e-31 PFAM
Pfam:7tm_4 137 282 1.1e-38 PFAM
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 T C 9: 43,005,623 D409G probably damaging Het
AW551984 A C 9: 39,589,086 L792R possibly damaging Het
Cep192 A G 18: 67,841,279 E1151G probably damaging Het
Cfap44 C A 16: 44,481,383 P1828Q probably damaging Het
Chid1 A T 7: 141,496,690 probably benign Het
Col6a6 C A 9: 105,782,191 L518F probably damaging Het
Ctsz C T 2: 174,429,098 R201K probably benign Het
D430042O09Rik A G 7: 125,829,753 T516A possibly damaging Het
Diras1 T C 10: 81,022,285 Y44C probably damaging Het
Grip1 T C 10: 119,942,913 V159A probably damaging Het
Hpd T C 5: 123,179,357 probably benign Het
Jag2 T C 12: 112,915,511 N463S probably benign Het
Kmt2a C A 9: 44,830,513 probably benign Het
Myo5a A G 9: 75,211,147 N1619D probably benign Het
Ncbp1 A G 4: 46,168,449 probably null Het
Olfr133 C T 17: 38,149,389 T267I possibly damaging Het
Pacsin2 G T 15: 83,388,663 A154E possibly damaging Het
Plcd4 A T 1: 74,564,380 I647F probably damaging Het
Prdm10 C T 9: 31,357,293 A846V probably damaging Het
Ptgs2 G T 1: 150,102,775 G213* probably null Het
Rcan3 C T 4: 135,425,395 S5N probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Serpinc1 A G 1: 161,002,459 N465S probably benign Het
Slc40a1 T C 1: 45,912,374 I208V possibly damaging Het
Vcl C T 14: 20,929,575 Q19* probably null Het
Other mutations in Olfr103
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Olfr103 APN 17 37336583 nonsense probably null
IGL01953:Olfr103 APN 17 37336875 missense probably damaging 1.00
IGL02556:Olfr103 APN 17 37336996 missense probably benign 0.00
IGL02737:Olfr103 APN 17 37336773 missense possibly damaging 0.94
IGL02995:Olfr103 APN 17 37336709 missense probably damaging 1.00
R1078:Olfr103 UTSW 17 37337026 missense probably damaging 0.98
R1466:Olfr103 UTSW 17 37336956 missense probably benign 0.43
R1466:Olfr103 UTSW 17 37336956 missense probably benign 0.43
R3024:Olfr103 UTSW 17 37337027 missense probably damaging 1.00
R3858:Olfr103 UTSW 17 37337226 nonsense probably null
R4979:Olfr103 UTSW 17 37336868 missense probably benign 0.06
R5062:Olfr103 UTSW 17 37336931 missense probably damaging 0.99
R5215:Olfr103 UTSW 17 37336813 missense probably benign 0.00
R5441:Olfr103 UTSW 17 37336268 unclassified probably null
R5453:Olfr103 UTSW 17 37337062 missense possibly damaging 0.96
R5525:Olfr103 UTSW 17 37336626 missense probably damaging 0.99
R5660:Olfr103 UTSW 17 37336644 missense probably damaging 1.00
R5859:Olfr103 UTSW 17 37336369 missense possibly damaging 0.61
R6211:Olfr103 UTSW 17 37336708 missense possibly damaging 0.90
R6958:Olfr103 UTSW 17 37336417 missense probably benign
R7060:Olfr103 UTSW 17 37336461 missense probably benign 0.02
R7567:Olfr103 UTSW 17 37337171 missense probably benign 0.00
R7784:Olfr103 UTSW 17 37336578 missense probably benign 0.13
R7784:Olfr103 UTSW 17 37337055 missense probably damaging 0.99
Z1088:Olfr103 UTSW 17 37336705 missense probably damaging 0.99
Posted On2015-04-16