Incidental Mutation 'IGL02433:Olfr1306'
ID293178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1306
Ensembl Gene ENSMUSG00000096566
Gene Nameolfactory receptor 1306
SynonymsGA_x6K02T2Q125-72954873-72953935, MOR245-15
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #IGL02433
Quality Score
Status
Chromosome2
Chromosomal Location111911264-111916271 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 111912417 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 171 (P171Q)
Ref Sequence ENSEMBL: ENSMUSP00000151142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099607] [ENSMUST00000214844]
Predicted Effect probably damaging
Transcript: ENSMUST00000099607
AA Change: P171Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097202
Gene: ENSMUSG00000096566
AA Change: P171Q

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 4.7e-43 PFAM
Pfam:7tm_1 41 287 9.7e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214844
AA Change: P171Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bche T C 3: 73,701,929 T55A probably benign Het
Ccdc177 T C 12: 80,757,598 D634G unknown Het
Cnot2 T C 10: 116,492,336 T498A possibly damaging Het
Dock10 C T 1: 80,530,188 V1669M probably damaging Het
Emilin2 T C 17: 71,274,129 E534G probably benign Het
Flt4 G A 11: 49,630,573 R440H probably benign Het
Gm10073 T C 8: 106,573,319 Y11C probably benign Het
Gm13088 C T 4: 143,655,437 G230S possibly damaging Het
Ighv10-3 T A 12: 114,523,894 probably benign Het
Krt31 T C 11: 100,048,395 Y232C probably damaging Het
Muc19 G A 15: 91,872,496 noncoding transcript Het
Myof A G 19: 37,972,193 S467P probably benign Het
Nup88 C T 11: 70,969,888 V22I probably benign Het
Olfr1099 A G 2: 86,959,048 S137P possibly damaging Het
Olfr804 A T 10: 129,705,576 T233S probably benign Het
Prag1 C T 8: 36,139,568 P821L probably damaging Het
Tap2 G A 17: 34,205,419 probably benign Het
Tmem68 A T 4: 3,569,624 I22N possibly damaging Het
Usp17le A G 7: 104,769,201 W245R probably benign Het
Xpo5 G T 17: 46,239,520 C976F probably damaging Het
Xrcc1 T C 7: 24,565,554 S94P possibly damaging Het
Zfp524 T A 7: 5,018,092 N206K possibly damaging Het
Other mutations in Olfr1306
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Olfr1306 APN 2 111912036 missense possibly damaging 0.95
IGL01310:Olfr1306 APN 2 111912307 missense probably benign 0.34
IGL01893:Olfr1306 APN 2 111912244 missense possibly damaging 0.65
IGL03302:Olfr1306 APN 2 111912822 missense possibly damaging 0.61
R0544:Olfr1306 UTSW 2 111912560 nonsense probably null
R0674:Olfr1306 UTSW 2 111912673 missense probably benign 0.41
R1118:Olfr1306 UTSW 2 111912877 missense probably benign 0.02
R1764:Olfr1306 UTSW 2 111912181 missense possibly damaging 0.93
R2915:Olfr1306 UTSW 2 111912719 missense probably damaging 1.00
R3976:Olfr1306 UTSW 2 111912606 missense possibly damaging 0.84
R4855:Olfr1306 UTSW 2 111912099 missense probably benign 0.41
R6475:Olfr1306 UTSW 2 111912859 nonsense probably null
R6513:Olfr1306 UTSW 2 111912883 missense possibly damaging 0.89
R6536:Olfr1306 UTSW 2 111912774 missense possibly damaging 0.94
R6748:Olfr1306 UTSW 2 111912357 missense possibly damaging 0.47
R6843:Olfr1306 UTSW 2 111912915 missense probably damaging 1.00
R7006:Olfr1306 UTSW 2 111912256 missense probably benign 0.16
R7169:Olfr1306 UTSW 2 111912594 missense possibly damaging 0.95
R7230:Olfr1306 UTSW 2 111912561 missense probably damaging 1.00
R7419:Olfr1306 UTSW 2 111912090 missense probably damaging 1.00
R7448:Olfr1306 UTSW 2 111912292 missense probably benign 0.00
R7753:Olfr1306 UTSW 2 111912582 missense probably benign 0.06
R7761:Olfr1306 UTSW 2 111912877 missense probably benign 0.02
R8330:Olfr1306 UTSW 2 111912379 missense probably benign 0.00
Posted On2015-04-16