Incidental Mutation 'IGL02256:Olfr980'
ID286576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr980
Ensembl Gene ENSMUSG00000060254
Gene Nameolfactory receptor 980
SynonymsMOR223-2, GA_x6K02T2PVTD-33705428-33704496
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02256
Quality Score
Status
Chromosome9
Chromosomal Location40004348-40009582 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40006053 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 299 (F299L)
Ref Sequence ENSEMBL: ENSMUSP00000150496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073932] [ENSMUST00000080835] [ENSMUST00000215523] [ENSMUST00000216463]
Predicted Effect probably benign
Transcript: ENSMUST00000073932
AA Change: F299L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091386
Gene: ENSMUSG00000060254
AA Change: F299L

DomainStartEndE-ValueType
Pfam:7tm_4 29 304 1.4e-55 PFAM
Pfam:7tm_1 39 287 5.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080835
SMART Domains Protein: ENSMUSP00000079648
Gene: ENSMUSG00000059473

DomainStartEndE-ValueType
Pfam:7tm_4 29 304 7.9e-58 PFAM
Pfam:7tm_1 39 287 5.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215523
Predicted Effect probably benign
Transcript: ENSMUST00000216463
AA Change: F299L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 T A 2: 91,769,054 V173E possibly damaging Het
BC005561 T A 5: 104,520,283 Y890* probably null Het
BC037034 C A 5: 138,260,315 D557Y probably damaging Het
Dennd4c A G 4: 86,799,541 T592A probably damaging Het
Dhcr24 G A 4: 106,572,320 G197S probably damaging Het
Fat1 A G 8: 44,950,332 Y40C probably damaging Het
Fbxl17 A C 17: 63,499,090 C310G probably benign Het
Hdac10 T C 15: 89,125,894 probably benign Het
Hist1h2bg G T 13: 23,571,435 M1I probably null Het
Mcm6 A G 1: 128,335,728 probably null Het
Mrpl19 G A 6: 81,964,319 T87I probably benign Het
Mzf1 A G 7: 13,052,737 probably benign Het
Nhlrc2 A G 19: 56,597,361 E676G probably benign Het
Notch3 T C 17: 32,132,324 D1899G probably damaging Het
Nxph1 A G 6: 9,247,185 D52G probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr171 T C 16: 19,625,006 I31M probably benign Het
Olfr418 A T 1: 173,270,627 I151F probably benign Het
Olfr913 G A 9: 38,594,544 V108I probably benign Het
Olfr918 A T 9: 38,673,480 M1K probably null Het
Pax6 T C 2: 105,684,770 V54A probably benign Het
Pbx1 A T 1: 168,183,602 H376Q possibly damaging Het
Prpf4b T A 13: 34,899,878 C877S probably damaging Het
Robo3 A G 9: 37,425,353 L373P probably damaging Het
Samd9l G A 6: 3,376,197 R355W probably damaging Het
Smarce1 A T 11: 99,219,380 N127K possibly damaging Het
Sptbn1 T C 11: 30,120,990 I1511V probably benign Het
Stab1 C T 14: 31,141,592 R2071H probably damaging Het
Svep1 A T 4: 58,070,311 C2492S possibly damaging Het
Tbr1 C A 2: 61,804,874 T56N probably damaging Het
Tlr6 T C 5: 64,954,944 T207A probably benign Het
Tmem241 A G 18: 12,113,432 W54R probably damaging Het
Tmem87a A G 2: 120,377,896 V326A probably damaging Het
Uroc1 A G 6: 90,346,687 D372G possibly damaging Het
Zc3h7a A C 16: 11,147,276 S664R probably benign Het
Other mutations in Olfr980
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02378:Olfr980 APN 9 40006473 missense probably damaging 1.00
IGL03384:Olfr980 APN 9 40006470 missense probably benign
IGL03402:Olfr980 APN 9 40006506 missense probably benign 0.31
PIT4651001:Olfr980 UTSW 9 40006230 missense probably damaging 0.97
R0013:Olfr980 UTSW 9 40006355 missense probably damaging 1.00
R1146:Olfr980 UTSW 9 40006094 missense possibly damaging 0.95
R1146:Olfr980 UTSW 9 40006094 missense possibly damaging 0.95
R4541:Olfr980 UTSW 9 40006293 missense possibly damaging 0.95
R4562:Olfr980 UTSW 9 40006281 missense probably damaging 0.99
R4731:Olfr980 UTSW 9 40006268 missense probably damaging 1.00
R4732:Olfr980 UTSW 9 40006268 missense probably damaging 1.00
R4733:Olfr980 UTSW 9 40006268 missense probably damaging 1.00
R4825:Olfr980 UTSW 9 40006742 missense possibly damaging 0.72
R5619:Olfr980 UTSW 9 40006743 missense probably benign 0.07
R5770:Olfr980 UTSW 9 40006338 missense probably benign 0.01
R5791:Olfr980 UTSW 9 40006734 missense probably damaging 1.00
R6813:Olfr980 UTSW 9 40006457 missense probably benign
R6819:Olfr980 UTSW 9 40006548 missense probably benign 0.00
R6970:Olfr980 UTSW 9 40006713 missense probably benign 0.00
R7490:Olfr980 UTSW 9 40006424 missense probably damaging 1.00
R7511:Olfr980 UTSW 9 40006933 missense possibly damaging 0.63
Z1088:Olfr980 UTSW 9 40006596 missense probably damaging 0.99
Posted On2015-04-16