Incidental Mutation 'R8858:Or2aj6'
ID 675487
Institutional Source Beutler Lab
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
MMRRC Submission 068738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8858 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 19442907-19443851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19443109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 247 (V247A)
Ref Sequence ENSEMBL: ENSMUSP00000145692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079891] [ENSMUST00000205467]
AlphaFold G5E8J1
Predicted Effect probably damaging
Transcript: ENSMUST00000079891
AA Change: V248A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078814
Gene: ENSMUSG00000060480
AA Change: V248A

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 damaging
Transcript: ENSMUST00000205467
AA Change: V247A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2984 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,638,338 (GRCm39) Q91R probably benign Het
Abca16 G T 7: 120,052,327 (GRCm39) C465F probably benign Het
Amfr A G 8: 94,714,070 (GRCm39) Y254H probably damaging Het
Arl6ip6 A G 2: 53,093,018 (GRCm39) E181G probably damaging Het
Atp10a A G 7: 58,465,971 (GRCm39) E1066G probably damaging Het
BC034090 A G 1: 155,101,964 (GRCm39) V100A probably benign Het
Cep126 T C 9: 8,130,270 (GRCm39) M54V probably benign Het
Ciao2a T C 9: 66,039,824 (GRCm39) I47T probably damaging Het
Csmd1 A G 8: 16,120,318 (GRCm39) V1829A probably benign Het
Cyp2c54 G A 19: 40,062,227 (GRCm39) T10I probably benign Het
Dennd11 T C 6: 40,399,669 (GRCm39) N173S probably benign Het
Disc1 A G 8: 125,977,781 (GRCm39) Y799C probably damaging Het
Dnajc17 T C 2: 119,011,445 (GRCm39) T162A probably benign Het
Fhad1 T C 4: 141,666,339 (GRCm39) E695G possibly damaging Het
Gadl1 A T 9: 115,835,669 (GRCm39) S366C probably damaging Het
Gbp11 C A 5: 105,473,392 (GRCm39) E454* probably null Het
Gm32742 T A 9: 51,062,256 (GRCm39) T691S probably benign Het
Gsdma3 C A 11: 98,520,695 (GRCm39) Q109K probably benign Het
Hsph1 A T 5: 149,548,576 (GRCm39) V482E probably damaging Het
Ighv1-23 T A 12: 114,728,083 (GRCm39) Y113F probably benign Het
Lactb G T 9: 66,863,182 (GRCm39) Y477* probably null Het
Lgr6 T C 1: 134,923,849 (GRCm39) probably null Het
Lrp1b T C 2: 41,560,827 (GRCm39) probably benign Het
Map3k4 A C 17: 12,490,759 (GRCm39) L224R probably damaging Het
Mex3d A T 10: 80,217,217 (GRCm39) C667S unknown Het
Myh8 A G 11: 67,192,820 (GRCm39) E1537G possibly damaging Het
Myo5a T C 9: 75,091,965 (GRCm39) S1205P probably damaging Het
Nfic A T 10: 81,262,965 (GRCm39) probably benign Het
Nrcam T A 12: 44,644,554 (GRCm39) probably benign Het
Or4f54 G A 2: 111,123,503 (GRCm39) V297M probably benign Het
Orc2 A T 1: 58,532,857 (GRCm39) D127E probably benign Het
Ppp2r5c T A 12: 110,519,329 (GRCm39) probably null Het
Ptpn18 A G 1: 34,502,196 (GRCm39) T71A possibly damaging Het
Ptpru T C 4: 131,526,825 (GRCm39) probably benign Het
Ralgapa2 C A 2: 146,102,285 (GRCm39) probably null Het
Rnase9 G A 14: 51,276,766 (GRCm39) P71S Het
Ryr1 A G 7: 28,808,638 (GRCm39) L485P probably benign Het
Sardh T C 2: 27,118,302 (GRCm39) D476G probably null Het
Sorbs3 T C 14: 70,438,850 (GRCm39) Y170C probably damaging Het
Spata31e4 T C 13: 50,855,423 (GRCm39) S354P probably benign Het
St8sia5 C T 18: 77,320,511 (GRCm39) P88S probably benign Het
Tmprss15 A G 16: 78,854,497 (GRCm39) probably null Het
Tnfrsf13b A G 11: 61,038,363 (GRCm39) I215M possibly damaging Het
Unc13d G T 11: 115,953,618 (GRCm39) L1052M probably damaging Het
Vasn A G 16: 4,466,833 (GRCm39) D260G probably benign Het
Wdr77 T C 3: 105,868,978 (GRCm39) V116A probably damaging Het
Zfp560 A G 9: 20,260,403 (GRCm39) I153T probably benign Het
Zfp672 G A 11: 58,208,145 (GRCm39) R59C possibly damaging Het
Other mutations in Or2aj6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02023:Or2aj6 APN 16 19,443,158 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- TCGTGGGCTTCTCTATACAGAC -3'
(R):5'- CCCTGCCATGTTGAAGTTGTC -3'

Sequencing Primer
(F):5'- GTGGGCTTCTCTATACAGACATAAAC -3'
(R):5'- GTTGTCATGTATAGACACAACACAC -3'
Posted On 2021-07-15