Incidental Mutation 'R7801:Or2aj6'
ID 600549
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 045856-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R7801 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 19442907-19443851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19443373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 159 (H159R)
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: H160R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078814
Gene: ENSMUSG00000060480
AA Change: H160R

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: H159R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,558,207 (GRCm39) Y165C probably damaging Het
Agbl3 A T 6: 34,816,300 (GRCm39) T742S probably benign Het
Arhgef10l T C 4: 140,271,578 (GRCm39) T651A probably benign Het
Arsb T A 13: 93,998,835 (GRCm39) I381N probably damaging Het
Blzf1 A G 1: 164,123,478 (GRCm39) V283A probably benign Het
Cadps C T 14: 12,489,476 (GRCm38) probably null Het
Casz1 A T 4: 149,022,706 (GRCm39) T591S probably damaging Het
Ccne2 T C 4: 11,194,079 (GRCm39) probably null Het
Chst9 T C 18: 15,585,334 (GRCm39) T410A probably benign Het
Ciart G A 3: 95,788,656 (GRCm39) P61L probably damaging Het
Fam234a T C 17: 26,437,172 (GRCm39) D169G probably benign Het
Fat1 C T 8: 45,495,260 (GRCm39) P4116L probably damaging Het
Fbxo21 G T 5: 118,124,189 (GRCm39) A166S probably damaging Het
Gbf1 A G 19: 46,261,082 (GRCm39) I1216V probably benign Het
Gper1 G A 5: 139,412,443 (GRCm39) A263T probably benign Het
Hdlbp G T 1: 93,358,029 (GRCm39) probably null Het
Ighg3 A T 12: 113,323,436 (GRCm39) L280Q Het
Impa1 T C 3: 10,386,727 (GRCm39) T171A probably benign Het
Ints7 T A 1: 191,347,859 (GRCm39) Y744N possibly damaging Het
Irgc G T 7: 24,131,959 (GRCm39) A286D probably damaging Het
Kif18a T C 2: 109,118,190 (GRCm39) S2P probably damaging Het
Macf1 A T 4: 123,302,064 (GRCm39) W813R probably damaging Het
Mapkbp1 T G 2: 119,842,554 (GRCm39) H157Q probably damaging Het
Mfsd4b2 T A 10: 39,799,777 (GRCm39) M42L probably benign Het
Mon2 A G 10: 122,895,091 (GRCm39) probably null Het
Myrfl T A 10: 116,684,240 (GRCm39) H161L probably benign Het
Or7g19 A C 9: 18,856,555 (GRCm39) S204R probably damaging Het
Phlpp2 T G 8: 110,652,474 (GRCm39) V606G possibly damaging Het
Psmb5 T C 14: 54,854,212 (GRCm39) T89A probably benign Het
Ptpn9 A G 9: 56,968,297 (GRCm39) T546A probably benign Het
Qrfprl T A 6: 65,418,201 (GRCm39) V123D probably damaging Het
Rabep2 A G 7: 126,037,584 (GRCm39) M146V possibly damaging Het
Rptn G A 3: 93,305,531 (GRCm39) E955K possibly damaging Het
Samd3 G T 10: 26,139,770 (GRCm39) V301F possibly damaging Het
Sh2b1 C A 7: 126,070,464 (GRCm39) C380F probably benign Het
Shank1 A G 7: 44,001,022 (GRCm39) M914V unknown Het
Sox2 G A 3: 34,704,791 (GRCm39) R76H probably damaging Het
Stat5a T C 11: 100,771,143 (GRCm39) F574S probably damaging Het
Tbx5 A G 5: 119,975,064 (GRCm39) E29G probably benign Het
Trpm5 A C 7: 142,638,978 (GRCm39) D264E probably damaging Het
Zfp442 T C 2: 150,251,639 (GRCm39) S88G probably benign Het
Zfp62 T A 11: 49,108,155 (GRCm39) F749I possibly damaging Het
Zfp677 T A 17: 21,618,277 (GRCm39) S445T probably damaging Het
Zfp979 A C 4: 147,698,435 (GRCm39) N91K probably damaging Het
Zfyve9 A G 4: 108,542,192 (GRCm39) V209A possibly damaging Het
Zic4 G T 9: 91,266,297 (GRCm39) A314S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCCCCTGATGAGTGCATTTG -3'
(R):5'- AGAACTATTTCCTTTGCAGGCTG -3'

Sequencing Primer
(F):5'- CCCCTGATGAGTGCATTTGGAATAC -3'
(R):5'- GGCTGTGCCTTCCAGATATTTC -3'
Posted On 2019-11-26