Incidental Mutation 'IGL02023:Olfr171'
ID184042
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr171
Ensembl Gene ENSMUSG00000060480
Gene Nameolfactory receptor 171
SynonymsMOR273-1, MOR273-5, GA_x54KRFPKG5P-16071018-16070077
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02023
Quality Score
Status
Chromosome16
Chromosomal Location19623930-19629916 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 19624408 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 231 (S231T)
Ref Sequence ENSEMBL: ENSMUSP00000145692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079891] [ENSMUST00000205467]
Predicted Effect probably benign
Transcript: ENSMUST00000079891
AA Change: S232T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000078814
Gene: ENSMUSG00000060480
AA Change: S232T

DomainStartEndE-ValueType
Pfam:7tm_4 29 309 2.6e-43 PFAM
Pfam:7TM_GPCR_Srsx 36 261 8.6e-6 PFAM
Pfam:7tm_1 42 291 3.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205467
AA Change: S231T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,063,116 K833E probably benign Het
Adam29 T C 8: 55,872,484 I312V probably benign Het
Adcy8 T A 15: 64,822,220 I403F probably damaging Het
Ahcyl1 A T 3: 107,667,694 N444K probably damaging Het
Ang4 T C 14: 51,764,054 probably benign Het
Atf6b T C 17: 34,651,867 V401A possibly damaging Het
Atp7a A T X: 106,094,982 I604F probably damaging Het
Cd151 T C 7: 141,470,457 Y202H probably damaging Het
Cd99l2 A T X: 71,449,946 N64K possibly damaging Het
Cog7 C T 7: 121,943,777 probably null Het
Ddx58 A G 4: 40,216,487 Y504H possibly damaging Het
Decr2 A T 17: 26,087,380 M94K probably benign Het
Dock11 A T X: 35,968,769 H188L probably benign Het
Dscam T C 16: 96,801,197 S682G probably benign Het
Fam126b G A 1: 58,530,115 A435V possibly damaging Het
Gja3 G T 14: 57,035,679 P412Q probably damaging Het
Glrb T C 3: 80,850,955 N333D probably benign Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gpr65 T A 12: 98,275,868 V260D probably benign Het
Hormad1 A G 3: 95,578,293 E264G possibly damaging Het
Hsph1 T C 5: 149,633,859 R46G probably damaging Het
Iars A G 13: 49,688,249 Y71C probably damaging Het
Lsg1 T C 16: 30,585,676 H35R probably damaging Het
Mfge8 C T 7: 79,145,237 probably benign Het
Mgat4c T A 10: 102,378,184 Y9* probably null Het
Mpdz A T 4: 81,329,529 I1074N probably damaging Het
Muc19 T C 15: 91,888,259 noncoding transcript Het
Nbea A T 3: 55,681,016 M2434K probably damaging Het
Ncoa2 A G 1: 13,174,854 L540P probably damaging Het
Nhsl2 A G X: 102,078,252 R554G probably damaging Het
Npdc1 T A 2: 25,408,020 probably benign Het
Osbpl10 T A 9: 115,226,722 V654D probably damaging Het
Plxna1 C A 6: 89,357,332 G105V possibly damaging Het
Pnmal2 T C 7: 16,945,691 V200A probably damaging Het
Ppard A G 17: 28,298,897 H313R probably benign Het
Rasgrp4 T C 7: 29,138,910 L103P probably damaging Het
Ripk4 A T 16: 97,755,231 L104Q probably damaging Het
Setd2 T C 9: 110,594,636 V2253A probably benign Het
Setdb2 A G 14: 59,431,158 S43P probably damaging Het
Stab2 C A 10: 86,871,831 G1742V possibly damaging Het
Timm23 A G 14: 32,193,847 probably benign Het
Ttn T C 2: 76,785,655 N14902S possibly damaging Het
Ush2a A G 1: 188,733,514 T2760A probably benign Het
Vmn2r25 T C 6: 123,839,429 N398D probably damaging Het
Other mutations in Olfr171
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02256:Olfr171 APN 16 19625006 missense probably benign 0.07
IGL02572:Olfr171 APN 16 19625098 start codon destroyed probably benign 0.01
IGL02966:Olfr171 APN 16 19624301 missense probably damaging 1.00
R0062:Olfr171 UTSW 16 19624417 missense probably benign 0.10
R3614:Olfr171 UTSW 16 19624765 missense probably damaging 1.00
R4899:Olfr171 UTSW 16 19624200 missense probably benign 0.33
R5070:Olfr171 UTSW 16 19624992 missense possibly damaging 0.47
R5334:Olfr171 UTSW 16 19624491 missense probably benign 0.02
R5718:Olfr171 UTSW 16 19624389 missense probably benign 0.06
R6490:Olfr171 UTSW 16 19624444 missense probably benign 0.03
R6632:Olfr171 UTSW 16 19625023 missense probably benign
R7801:Olfr171 UTSW 16 19624623 missense probably damaging 0.99
X0057:Olfr171 UTSW 16 19624926 missense probably damaging 1.00
X0063:Olfr171 UTSW 16 19624708 missense possibly damaging 0.65
Posted On2014-05-07