Incidental Mutation 'R5542:Or6a2'
ID 436035
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
MMRRC Submission 043100-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.261) question?
Stock # R5542 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 106600082-106601812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106600286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 260 (S260R)
Ref Sequence ENSEMBL: ENSMUSP00000150093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094109] [ENSMUST00000207280] [ENSMUST00000208147] [ENSMUST00000211432] [ENSMUST00000214105] [ENSMUST00000216375]
AlphaFold Q9QWU6
Predicted Effect probably damaging
Transcript: ENSMUST00000094109
AA Change: S260R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: S260R

DomainStartEndE-ValueType
Pfam:7tm_4 31 313 9.2e-53 PFAM
Pfam:7tm_1 42 295 3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207280
AA Change: S260R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208147
AA Change: S260R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211432
AA Change: S260R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214105
AA Change: S260R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216375
AA Change: S260R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217764
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Acacb C T 5: 114,333,798 (GRCm39) R574C probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
Anks4b C T 7: 119,781,646 (GRCm39) Q226* probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Cdh4 T A 2: 179,502,019 (GRCm39) N326K probably damaging Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo7 A C 10: 85,869,149 (GRCm39) Q201P probably benign Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Fuom A T 7: 139,680,025 (GRCm39) *109R probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighm A G 12: 113,382,601 (GRCm39) probably benign Het
Ighv1-85 T A 12: 115,963,847 (GRCm39) Y51F probably benign Het
Ighv2-3 A T 12: 113,574,833 (GRCm39) D107E probably benign Het
Ighv2-6-8 T A 12: 113,760,187 (GRCm39) M1L probably benign Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Itga9 T C 9: 118,672,729 (GRCm39) F154L possibly damaging Het
Itprid1 C A 6: 55,955,380 (GRCm39) P996Q probably damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Marveld3 A T 8: 110,675,249 (GRCm39) I189K probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtcl1 G A 17: 66,691,354 (GRCm39) probably benign Het
Muc21 T C 17: 35,933,395 (GRCm39) probably benign Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nbeal1 A G 1: 60,316,353 (GRCm39) D1852G probably benign Het
Ndc80 A T 17: 71,807,276 (GRCm39) V560D probably benign Het
Nscme3l A T 19: 5,553,463 (GRCm39) V106D probably damaging Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56a3 A T 7: 104,735,565 (GRCm39) D214V probably damaging Het
Or9i1b T C 19: 13,896,411 (GRCm39) V9A probably benign Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Plxna4 T A 6: 32,183,165 (GRCm39) I913F probably damaging Het
Psmc1 T C 12: 100,086,399 (GRCm39) probably null Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Safb2 G A 17: 56,882,647 (GRCm39) R329C probably damaging Het
Septin14 T C 5: 129,774,926 (GRCm39) H83R probably damaging Het
Slc16a10 A G 10: 39,952,784 (GRCm39) F237L probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Sned1 T C 1: 93,199,324 (GRCm39) I468T probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trip12 A T 1: 84,727,065 (GRCm39) D1135E probably damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Ubqlnl G A 7: 103,798,904 (GRCm39) Q198* probably null Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Usp46 A T 5: 74,189,902 (GRCm39) M43K probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r29 C T 6: 58,285,108 (GRCm39) T276I probably benign Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zfp12 C T 5: 143,230,240 (GRCm39) P189L possibly damaging Het
Zfp729b A G 13: 67,739,140 (GRCm39) F1042L 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
R5792:Or6a2 UTSW 7 106,600,650 (GRCm39) missense possibly damaging 0.61
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'- AACCATCTCTGCTGGATTTCTTGG -3'
(R):5'- ACTGACATGTCCACAGCAGAG -3'

Sequencing Primer
(F):5'- CATCTCTGCTGGATTTCTTGGTATTG -3'
(R):5'- GCAGAGCTTACAGACTTTATCCTGG -3'
Posted On 2016-10-24