Incidental Mutation 'IGL03037:Olfr54'
ID408708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr54
Ensembl Gene ENSMUSG00000059397
Gene Nameolfactory receptor 54
SynonymsGA_x6K02T2QP88-4411197-4410256, F3, MOR126-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL03037
Quality Score
Status
Chromosome11
Chromosomal Location51014236-51031578 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 51027290 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 96 (Y96F)
Ref Sequence ENSEMBL: ENSMUSP00000150809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072152] [ENSMUST00000215409] [ENSMUST00000217480]
Predicted Effect probably damaging
Transcript: ENSMUST00000072152
AA Change: Y96F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072016
Gene: ENSMUSG00000059397
AA Change: Y96F

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 3e-57 PFAM
Pfam:7TM_GPCR_Srsx 37 306 8.8e-6 PFAM
Pfam:7tm_1 43 291 2.7e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215409
AA Change: Y96F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217480
AA Change: Y96F

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C A 3: 36,969,207 S2227R probably benign Het
4932438A13Rik T C 3: 36,969,208 S2229P probably damaging Het
Actl11 T C 9: 107,930,095 L539P probably damaging Het
Adam23 A T 1: 63,571,017 Q726L possibly damaging Het
Ago1 T C 4: 126,461,794 E74G probably benign Het
Atp6v1d C A 12: 78,857,348 probably benign Het
Cadm4 T A 7: 24,500,795 L243Q probably damaging Het
Camsap2 C A 1: 136,274,857 L1274F probably damaging Het
Car10 A G 11: 93,100,218 probably benign Het
Catsperd A T 17: 56,641,583 D186V possibly damaging Het
Cdc42bpg A G 19: 6,311,200 Y285C probably damaging Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Cln8 A T 8: 14,894,679 probably benign Het
Cnksr1 T C 4: 134,235,106 probably null Het
Ddx5 T C 11: 106,782,104 N532D possibly damaging Het
Dock11 G T X: 36,047,046 probably benign Het
Dock8 A G 19: 25,086,181 E249G probably benign Het
Espnl T C 1: 91,341,921 V393A probably benign Het
Fam160a2 A T 7: 105,379,086 H885Q probably benign Het
Frrs1 T C 3: 116,902,467 probably benign Het
Fstl4 C A 11: 53,168,223 A503D possibly damaging Het
Gda T A 19: 21,434,309 I42L possibly damaging Het
Gprc5d C A 6: 135,116,321 C196F probably damaging Het
Hnrnpa0 A G 13: 58,127,953 F121L probably damaging Het
Hsd3b7 C T 7: 127,801,150 H24Y probably damaging Het
Ift140 T C 17: 25,092,394 S1188P probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mcemp1 C A 8: 3,667,055 Y65* probably null Het
Mmp16 C T 4: 17,996,222 P104S probably damaging Het
Mpst C A 15: 78,410,598 R177S probably benign Het
Nek1 A T 8: 61,034,052 T279S probably benign Het
Olfr1201 A G 2: 88,794,955 Y191C probably damaging Het
Olfr357 C T 2: 36,997,548 T246I probably benign Het
Olfr830 T A 9: 18,875,372 I12N probably damaging Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pik3r4 A G 9: 105,650,813 D455G probably damaging Het
Piwil4 T C 9: 14,705,012 I756V possibly damaging Het
Pkhd1 A G 1: 20,522,699 L1730P probably benign Het
Pnpla3 T C 15: 84,172,759 I155T probably damaging Het
Prmt8 T C 6: 127,703,977 Y243C possibly damaging Het
Rbfox1 T A 16: 7,292,283 probably benign Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Scaf8 A G 17: 3,190,221 K623E probably damaging Het
Slc26a4 A T 12: 31,531,687 probably benign Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Smarca4 T C 9: 21,632,935 probably benign Het
Sos1 T C 17: 80,420,329 D775G probably damaging Het
Spag17 G A 3: 100,072,170 probably null Het
Spata31d1d T A 13: 59,726,133 E1196V possibly damaging Het
Sqle T A 15: 59,321,397 Y208N probably damaging Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tdgf1 C A 9: 110,943,220 W36L probably benign Het
Tenm3 A G 8: 48,298,878 F959L possibly damaging Het
Tnfrsf19 T A 14: 61,024,272 K26I possibly damaging Het
Trappc10 A T 10: 78,199,035 probably benign Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Trpm3 A G 19: 22,889,412 T536A possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Uaca A G 9: 60,840,865 D37G probably damaging Het
Ube3a T C 7: 59,247,223 probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Ugp2 T A 11: 21,332,540 K151* probably null Het
Wasf1 A G 10: 40,930,658 K99R probably benign Het
Wnt4 C T 4: 137,289,161 T42M possibly damaging Het
Zfp54 T A 17: 21,430,215 D17E probably damaging Het
Other mutations in Olfr54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Olfr54 APN 11 51027589 nonsense probably null
IGL01875:Olfr54 APN 11 51027375 missense probably damaging 1.00
IGL01936:Olfr54 APN 11 51027335 missense probably benign 0.02
IGL02165:Olfr54 APN 11 51027643 missense probably benign 0.00
IGL02474:Olfr54 APN 11 51027365 missense probably damaging 1.00
IGL02706:Olfr54 APN 11 51027264 missense probably damaging 0.99
IGL02983:Olfr54 APN 11 51027380 missense probably damaging 1.00
IGL03086:Olfr54 APN 11 51027730 missense probably damaging 1.00
R0114:Olfr54 UTSW 11 51027604 missense probably benign 0.34
R1201:Olfr54 UTSW 11 51027110 missense probably damaging 0.99
R1353:Olfr54 UTSW 11 51027006 start codon destroyed probably null 0.33
R1624:Olfr54 UTSW 11 51027125 missense probably damaging 1.00
R1961:Olfr54 UTSW 11 51027475 missense probably benign 0.00
R5318:Olfr54 UTSW 11 51027593 missense probably benign 0.01
R5335:Olfr54 UTSW 11 51027334 missense probably benign 0.00
R6409:Olfr54 UTSW 11 51027188 missense probably damaging 1.00
R7097:Olfr54 UTSW 11 51027601 missense probably benign 0.09
Posted On2016-08-02