Incidental Mutation 'IGL02028:Olfr1289'
ID184255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1289
Ensembl Gene ENSMUSG00000061195
Gene Nameolfactory receptor 1289
SynonymsGA_x6K02T2Q125-72534883-72535821, MOR245-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL02028
Quality Score
Status
Chromosome2
Chromosomal Location111480819-111484615 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111483471 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 14 (F14L)
Ref Sequence ENSEMBL: ENSMUSP00000099611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102551] [ENSMUST00000104889] [ENSMUST00000120021] [ENSMUST00000207494] [ENSMUST00000214816] [ENSMUST00000217611]
Predicted Effect probably benign
Transcript: ENSMUST00000102551
AA Change: F14L

PolyPhen 2 Score 0.010 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099611
Gene: ENSMUSG00000108908
AA Change: F14L

DomainStartEndE-ValueType
Pfam:7tm_4 17 289 6e-45 PFAM
Pfam:7TM_GPCR_Srsx 20 288 1.4e-7 PFAM
Pfam:7tm_1 27 273 7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000104889
SMART Domains Protein: ENSMUSP00000100485
Gene: ENSMUSG00000044039

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.3e-43 PFAM
Pfam:7tm_1 41 287 2.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120021
AA Change: F42L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000207494
AA Change: F14L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000214816
Predicted Effect probably benign
Transcript: ENSMUST00000217611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225425
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,434,283 Y53C probably damaging Het
Acacb T A 5: 114,166,015 D166E probably damaging Het
Akap8l T C 17: 32,338,521 probably null Het
Arl6ip5 A G 6: 97,229,650 Y97C probably damaging Het
Atad5 T A 11: 80,134,110 S1772R probably benign Het
Ccdc106 A G 7: 5,059,646 Q155R probably damaging Het
Ccdc33 T C 9: 58,076,578 N446S probably benign Het
Cd3eap T C 7: 19,357,078 K368R probably damaging Het
Cdh2 T C 18: 16,650,420 D84G probably benign Het
Cntn6 A G 6: 104,859,426 K918E probably damaging Het
Dock6 T C 9: 21,838,826 D521G probably damaging Het
Etv6 C T 6: 134,248,733 A309V probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Figla T C 6: 86,017,363 L40P probably damaging Het
Gabra4 T A 5: 71,633,596 Q301L probably damaging Het
Glt1d1 G A 5: 127,706,920 V313M possibly damaging Het
Gm28778 T A 1: 53,317,961 I94K possibly damaging Het
Gm4847 T C 1: 166,642,196 K103E probably benign Het
Gne A G 4: 44,066,852 S23P probably damaging Het
Hipk2 A G 6: 38,818,756 C186R possibly damaging Het
Lrp1b C T 2: 41,511,452 V283I probably damaging Het
Mcm10 A T 2: 5,008,700 D40E possibly damaging Het
Morc2b T A 17: 33,137,413 I462F possibly damaging Het
Myh1 T A 11: 67,210,615 I711N probably damaging Het
Oit3 A G 10: 59,438,655 F108L probably damaging Het
Olfr913 T A 9: 38,594,419 L66* probably null Het
Rbm19 A G 5: 120,120,236 D172G probably damaging Het
Ribc2 A G 15: 85,143,335 D339G possibly damaging Het
Rras2 C A 7: 114,060,362 V56L probably benign Het
Scn2a A G 2: 65,763,658 E1617G probably damaging Het
Slc13a1 T A 6: 24,118,031 M236L probably benign Het
Snrnp27 C T 6: 86,682,973 R13H unknown Het
Srgap2 T C 1: 131,296,435 K92E probably damaging Het
Suco T C 1: 161,856,859 K231E possibly damaging Het
Tll2 C A 19: 41,098,649 E588* probably null Het
Tmem215 A T 4: 40,473,940 I6L possibly damaging Het
Tnc A C 4: 63,966,672 probably benign Het
Tob1 G A 11: 94,214,226 G196D probably benign Het
Ubtfl1 T A 9: 18,409,553 Y126N possibly damaging Het
Uck1 G T 2: 32,258,137 Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,030,884 noncoding transcript Het
Vmn1r88 C T 7: 13,177,792 S25L probably benign Het
Vmn2r109 T G 17: 20,541,080 I672L probably benign Het
Vmn2r23 T C 6: 123,741,860 F724S probably damaging Het
Vmn2r54 A T 7: 12,632,161 F282Y probably damaging Het
Vmn2r82 A T 10: 79,379,223 I347F probably benign Het
Wasf2 G A 4: 133,195,801 R474H probably damaging Het
Wdr60 C A 12: 116,256,061 R87L probably benign Het
Zmym5 T C 14: 56,804,160 H162R possibly damaging Het
Other mutations in Olfr1289
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Olfr1289 APN 2 111484101 missense probably damaging 1.00
IGL01682:Olfr1289 APN 2 111483843 missense probably damaging 1.00
IGL02731:Olfr1289 APN 2 111483528 missense probably benign 0.00
IGL03035:Olfr1289 APN 2 111483823 missense probably benign 0.04
R1214:Olfr1289 UTSW 2 111483892 missense probably damaging 1.00
R1471:Olfr1289 UTSW 2 111484006 missense probably damaging 1.00
R1714:Olfr1289 UTSW 2 111483663 missense probably damaging 1.00
R2088:Olfr1289 UTSW 2 111484278 missense probably damaging 1.00
R2136:Olfr1289 UTSW 2 111483616 missense probably damaging 1.00
R2141:Olfr1289 UTSW 2 111483630 missense probably benign 0.23
R3945:Olfr1289 UTSW 2 111483687 nonsense probably null
R4276:Olfr1289 UTSW 2 111483504 missense probably damaging 1.00
R4562:Olfr1289 UTSW 2 111483564 missense probably benign 0.00
R4896:Olfr1289 UTSW 2 111483660 missense possibly damaging 0.82
R4946:Olfr1289 UTSW 2 111483966 missense possibly damaging 0.93
R5004:Olfr1289 UTSW 2 111483660 missense possibly damaging 0.82
R5686:Olfr1289 UTSW 2 111484143 missense probably damaging 1.00
R6032:Olfr1289 UTSW 2 111483850 missense probably damaging 1.00
R6032:Olfr1289 UTSW 2 111483850 missense probably damaging 1.00
R6960:Olfr1289 UTSW 2 111483726 missense possibly damaging 0.70
R7293:Olfr1289 UTSW 2 111483354 splice site probably null
R7642:Olfr1289 UTSW 2 111483478 missense probably damaging 0.96
R8429:Olfr1289 UTSW 2 111483495 missense possibly damaging 0.55
R8447:Olfr1289 UTSW 2 111483756 missense probably damaging 1.00
Posted On2014-05-07