Incidental Mutation 'R5792:Or6a2'
ID 447025
Institutional Source Beutler Lab
Gene Symbol Or6a2
Ensembl Gene ENSMUSG00000070417
Gene Name olfactory receptor family 6 subfamily A member 2
Synonyms Olfr41, Olfr2, I54, GA_x6K02T2PBJ9-9381439-9380456, MOR103-15, I7
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.261) question?
Stock # R5792 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 106600082-106601812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106600650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 139 (V139D)
Ref Sequence ENSEMBL: ENSMUSP00000150093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094109] [ENSMUST00000207280] [ENSMUST00000208147] [ENSMUST00000211432] [ENSMUST00000214105] [ENSMUST00000216375]
AlphaFold Q9QWU6
Predicted Effect possibly damaging
Transcript: ENSMUST00000094109
AA Change: V139D

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: V139D

DomainStartEndE-ValueType
Pfam:7tm_4 31 313 9.2e-53 PFAM
Pfam:7tm_1 42 295 3e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207280
AA Change: V139D

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208147
AA Change: V139D

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211432
AA Change: V139D

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214105
AA Change: V139D

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216375
AA Change: V139D

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217764
Meta Mutation Damage Score 0.2171 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 95% (56/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,945 (GRCm39) I296F possibly damaging Het
Adamts19 C T 18: 58,970,584 (GRCm39) T56M possibly damaging Het
Axdnd1 T G 1: 156,169,459 (GRCm39) E802D probably damaging Het
Birc6 T C 17: 74,938,048 (GRCm39) V2630A probably benign Het
Capn5 A T 7: 97,780,402 (GRCm39) F323I probably benign Het
Ccn1 T C 3: 145,354,413 (GRCm39) D166G probably benign Het
Cdc25b A G 2: 131,033,679 (GRCm39) E206G probably damaging Het
Cmah T G 13: 24,640,898 (GRCm39) N382K probably benign Het
Col11a1 A T 3: 113,925,242 (GRCm39) D25V probably damaging Het
Cyp2d41-ps G T 15: 82,663,421 (GRCm39) noncoding transcript Het
Cyp3a59 A G 5: 146,036,661 (GRCm39) K288E possibly damaging Het
Dclre1a A C 19: 56,518,022 (GRCm39) I1019S probably damaging Het
Fat2 G T 11: 55,153,151 (GRCm39) A3687D possibly damaging Het
Flg2 T A 3: 93,110,804 (GRCm39) V944E unknown Het
Galntl5 T C 5: 25,403,461 (GRCm39) V177A possibly damaging Het
Gm12695 T C 4: 96,616,520 (GRCm39) T438A probably benign Het
Gm14295 A T 2: 176,502,807 (GRCm39) N766Y probably benign Het
Gm15433 T A 1: 84,941,833 (GRCm39) noncoding transcript Het
Gm2431 C T 7: 141,812,069 (GRCm39) G8E unknown Het
Gm5435 T A 12: 82,542,200 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Grip1 T C 10: 119,821,385 (GRCm39) I350T probably benign Het
Guf1 T A 5: 69,717,829 (GRCm39) F196I probably damaging Het
Kcng4 G T 8: 120,353,018 (GRCm39) D297E probably damaging Het
Khdrbs2 G A 1: 32,511,773 (GRCm39) R246Q probably damaging Het
Layn T C 9: 50,979,461 (GRCm39) E148G probably damaging Het
Lrig3 T A 10: 125,845,788 (GRCm39) V739E probably damaging Het
Lyg1 A G 1: 37,986,348 (GRCm39) W129R probably benign Het
Nup210l C T 3: 90,107,164 (GRCm39) T1567I probably damaging Het
Nus1 T A 10: 52,305,352 (GRCm39) L12* probably null Het
Odad2 T C 18: 7,217,965 (GRCm39) N583S probably benign Het
Or1n2 A G 2: 36,797,113 (GRCm39) I52V probably benign Het
Otop1 A G 5: 38,455,260 (GRCm39) N218S probably benign Het
Pcif1 T A 2: 164,727,299 (GRCm39) N90K probably damaging Het
Phf2 T C 13: 48,973,518 (GRCm39) probably null Het
Piezo2 T A 18: 63,279,927 (GRCm39) I215F probably damaging Het
Pitpnm2 G T 5: 124,268,384 (GRCm39) C553* probably null Het
Prdm1 A G 10: 44,326,224 (GRCm39) V115A probably damaging Het
Prkdc A G 16: 15,634,616 (GRCm39) D3587G probably damaging Het
Sez6l A T 5: 112,569,890 (GRCm39) Y883* probably null Het
Sh3rf2 A C 18: 42,244,203 (GRCm39) H223P probably damaging Het
Slco1a5 C T 6: 142,187,839 (GRCm39) C500Y probably damaging Het
Slf1 T A 13: 77,214,856 (GRCm39) H610L probably benign Het
Syn3 T C 10: 86,130,492 (GRCm39) *244W probably null Het
Sytl2 A T 7: 90,024,897 (GRCm39) D295V probably damaging Het
Tnfrsf1a T A 6: 125,335,040 (GRCm39) C44S probably damaging Het
Ttc6 T G 12: 57,719,990 (GRCm39) L854V possibly damaging Het
Ttn T C 2: 76,596,602 (GRCm39) I18358V probably benign Het
Vmn2r108 A G 17: 20,683,398 (GRCm39) V602A probably damaging Het
Zap70 A G 1: 36,818,090 (GRCm39) probably benign Het
Zfhx2 T C 14: 55,304,303 (GRCm39) E1227G possibly damaging Het
Znhit3 G A 11: 84,806,910 (GRCm39) probably null Het
Zpbp2 A G 11: 98,442,236 (GRCm39) probably benign Het
Other mutations in Or6a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02270:Or6a2 APN 7 106,600,630 (GRCm39) missense probably damaging 1.00
IGL02620:Or6a2 APN 7 106,600,825 (GRCm39) nonsense probably null
IGL02942:Or6a2 APN 7 106,600,561 (GRCm39) missense possibly damaging 0.88
R1171:Or6a2 UTSW 7 106,600,791 (GRCm39) missense probably benign
R1956:Or6a2 UTSW 7 106,600,342 (GRCm39) missense probably damaging 1.00
R2128:Or6a2 UTSW 7 106,600,455 (GRCm39) missense probably damaging 1.00
R2342:Or6a2 UTSW 7 106,600,116 (GRCm39) missense probably benign
R2351:Or6a2 UTSW 7 106,600,883 (GRCm39) nonsense probably null
R3752:Or6a2 UTSW 7 106,600,682 (GRCm39) nonsense probably null
R4197:Or6a2 UTSW 7 106,600,245 (GRCm39) missense probably damaging 0.97
R4237:Or6a2 UTSW 7 106,600,536 (GRCm39) missense probably damaging 1.00
R4787:Or6a2 UTSW 7 106,600,293 (GRCm39) missense probably benign 0.00
R4795:Or6a2 UTSW 7 106,600,542 (GRCm39) missense probably damaging 1.00
R4796:Or6a2 UTSW 7 106,600,542 (GRCm39) missense probably damaging 1.00
R5268:Or6a2 UTSW 7 106,600,111 (GRCm39) missense probably benign 0.00
R5412:Or6a2 UTSW 7 106,600,842 (GRCm39) missense probably damaging 0.99
R5474:Or6a2 UTSW 7 106,600,296 (GRCm39) missense probably damaging 0.98
R5542:Or6a2 UTSW 7 106,600,286 (GRCm39) missense probably damaging 1.00
R6149:Or6a2 UTSW 7 106,600,807 (GRCm39) missense probably benign
R7552:Or6a2 UTSW 7 106,600,534 (GRCm39) missense probably benign
R7838:Or6a2 UTSW 7 106,600,514 (GRCm39) nonsense probably null
R8177:Or6a2 UTSW 7 106,600,663 (GRCm39) missense probably damaging 1.00
R9666:Or6a2 UTSW 7 106,600,099 (GRCm39) missense probably benign 0.03
R9787:Or6a2 UTSW 7 106,600,899 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTAAGCTCTGCTGTGGAC -3'
(R):5'- TCCTGGAGATTTGGTATGTCAC -3'

Sequencing Primer
(F):5'- AAGCTCTGCTGTGGACATGTCAG -3'
(R):5'- ACGATTCCTAAGATGCTTGCTG -3'
Posted On 2016-12-15