Incidental Mutation 'IGL02023:Or2aj6'
ID 184042
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2aj6
Ensembl Gene ENSMUSG00000060480
Gene Name olfactory receptor family 2 subfamily AJ member 6
Synonyms GA_x54KRFPKG5P-16071018-16070077, MOR273-5, MOR273-1, Olfr171
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02023
Quality Score
Status
Chromosome 16
Chromosomal Location 19442907-19443851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19443158 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold G5E8J1
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: 109,953,942 (GRCm39) K833E probably benign Het
Adam29 T C 8: 56,325,519 (GRCm39) I312V probably benign Het
Adcy8 T A 15: 64,694,069 (GRCm39) I403F probably damaging Het
Ahcyl1 A T 3: 107,575,010 (GRCm39) N444K probably damaging Het
Ang4 T C 14: 52,001,511 (GRCm39) probably benign Het
Atf6b T C 17: 34,870,841 (GRCm39) V401A possibly damaging Het
Atp7a A T X: 105,138,588 (GRCm39) I604F probably damaging Het
Cd151 T C 7: 141,050,370 (GRCm39) Y202H probably damaging Het
Cd99l2 A T X: 70,493,552 (GRCm39) N64K possibly damaging Het
Cog7 C T 7: 121,543,000 (GRCm39) probably null Het
Decr2 A T 17: 26,306,354 (GRCm39) M94K probably benign Het
Dock11 A T X: 35,232,422 (GRCm39) H188L probably benign Het
Dscam T C 16: 96,602,397 (GRCm39) S682G probably benign Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Gja3 G T 14: 57,273,136 (GRCm39) P412Q probably damaging Het
Glrb T C 3: 80,758,262 (GRCm39) N333D probably benign Het
Gpr65 T A 12: 98,242,127 (GRCm39) V260D probably benign Het
Hormad1 A G 3: 95,485,604 (GRCm39) E264G possibly damaging Het
Hsph1 T C 5: 149,557,324 (GRCm39) R46G probably damaging Het
Hycc2 G A 1: 58,569,274 (GRCm39) A435V possibly damaging Het
Iars1 A G 13: 49,841,725 (GRCm39) Y71C probably damaging Het
Lsg1 T C 16: 30,404,494 (GRCm39) H35R probably damaging Het
Mfge8 C T 7: 78,794,985 (GRCm39) probably benign Het
Mgat4c T A 10: 102,214,045 (GRCm39) Y9* probably null Het
Mpdz A T 4: 81,247,766 (GRCm39) I1074N probably damaging Het
Muc19 T C 15: 91,772,453 (GRCm39) noncoding transcript Het
Nbea A T 3: 55,588,437 (GRCm39) M2434K probably damaging Het
Ncoa2 A G 1: 13,245,078 (GRCm39) L540P probably damaging Het
Nhsl2 A G X: 101,121,858 (GRCm39) R554G probably damaging Het
Npdc1 T A 2: 25,298,032 (GRCm39) probably benign Het
Osbpl10 T A 9: 115,055,790 (GRCm39) V654D probably damaging Het
Plxna1 C A 6: 89,334,314 (GRCm39) G105V possibly damaging Het
Pnma8b T C 7: 16,679,616 (GRCm39) V200A probably damaging Het
Ppard A G 17: 28,517,871 (GRCm39) H313R probably benign Het
Rasgrp4 T C 7: 28,838,335 (GRCm39) L103P probably damaging Het
Rigi A G 4: 40,216,487 (GRCm39) Y504H possibly damaging Het
Ripk4 A T 16: 97,556,431 (GRCm39) L104Q probably damaging Het
Setd2 T C 9: 110,423,704 (GRCm39) V2253A probably benign Het
Setdb2 A G 14: 59,668,607 (GRCm39) S43P probably damaging Het
Stab2 C A 10: 86,707,695 (GRCm39) G1742V possibly damaging Het
Timm23 A G 14: 31,915,804 (GRCm39) probably benign Het
Ttn T C 2: 76,615,999 (GRCm39) N14902S possibly damaging Het
Ush2a A G 1: 188,465,711 (GRCm39) T2760A probably benign Het
Vmn2r25 T C 6: 123,816,388 (GRCm39) N398D probably damaging Het
Other mutations in Or2aj6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02256:Or2aj6 APN 16 19,443,756 (GRCm39) missense probably benign 0.07
IGL02572:Or2aj6 APN 16 19,443,848 (GRCm39) start codon destroyed probably benign 0.01
IGL02966:Or2aj6 APN 16 19,443,051 (GRCm39) missense probably damaging 1.00
R0062:Or2aj6 UTSW 16 19,443,167 (GRCm39) missense probably benign 0.10
R3614:Or2aj6 UTSW 16 19,443,515 (GRCm39) missense probably damaging 1.00
R4899:Or2aj6 UTSW 16 19,442,950 (GRCm39) missense probably benign 0.33
R5070:Or2aj6 UTSW 16 19,443,742 (GRCm39) missense possibly damaging 0.47
R5334:Or2aj6 UTSW 16 19,443,241 (GRCm39) missense probably benign 0.02
R5718:Or2aj6 UTSW 16 19,443,139 (GRCm39) missense probably benign 0.06
R6490:Or2aj6 UTSW 16 19,443,194 (GRCm39) missense probably benign 0.03
R6632:Or2aj6 UTSW 16 19,443,773 (GRCm39) missense probably benign
R7801:Or2aj6 UTSW 16 19,443,373 (GRCm39) missense probably damaging 0.99
R8858:Or2aj6 UTSW 16 19,443,109 (GRCm39) missense probably damaging 1.00
R9036:Or2aj6 UTSW 16 19,443,295 (GRCm39) nonsense probably null
R9056:Or2aj6 UTSW 16 19,443,791 (GRCm39) missense probably benign 0.03
R9110:Or2aj6 UTSW 16 19,443,743 (GRCm39) missense possibly damaging 0.86
R9576:Or2aj6 UTSW 16 19,442,961 (GRCm39) missense probably damaging 1.00
X0057:Or2aj6 UTSW 16 19,443,676 (GRCm39) missense probably damaging 1.00
X0063:Or2aj6 UTSW 16 19,443,458 (GRCm39) missense possibly damaging 0.65
Posted On 2014-05-07