Incidental Mutation 'R4503:Or6aa1'
ID 331898
Institutional Source Beutler Lab
Gene Symbol Or6aa1
Ensembl Gene ENSMUSG00000039608
Gene Name olfactory receptor family 6 subfamily AA member 1
Synonyms MOR104-2, Olfr303, GA_x6K02T2NHDJ-9712819-9713778
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R4503 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 86043704-86044743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86044485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 74 (T74S)
Ref Sequence ENSEMBL: ENSMUSP00000149419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053958] [ENSMUST00000215234] [ENSMUST00000215532] [ENSMUST00000215733] [ENSMUST00000216409]
AlphaFold Q8VFP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000053958
AA Change: T74S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062459
Gene: ENSMUSG00000039608
AA Change: T74S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.2e-52 PFAM
Pfam:7tm_1 41 307 4.9e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215234
AA Change: T74S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215532
AA Change: T74S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215733
AA Change: T74S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216409
AA Change: T74S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,607,672 (GRCm39) L30P probably benign Het
Adamts20 T C 15: 94,277,631 (GRCm39) H277R probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp13a5 G T 16: 29,112,346 (GRCm39) N598K probably benign Het
Ccdc171 A G 4: 83,782,560 (GRCm39) E1284G probably damaging Het
Cdk5 G A 5: 24,624,617 (GRCm39) T258M possibly damaging Het
Col3a1 T C 1: 45,387,837 (GRCm39) probably benign Het
Coro6 A G 11: 77,360,272 (GRCm39) E414G probably benign Het
Dst T C 1: 34,301,334 (GRCm39) probably null Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
H2bc18 A T 3: 96,177,240 (GRCm39) K58M possibly damaging Het
Kank4 G A 4: 98,665,335 (GRCm39) S653L possibly damaging Het
Mapkbp1 T C 2: 119,846,187 (GRCm39) I451T probably damaging Het
Ncf2 A G 1: 152,709,529 (GRCm39) E342G probably benign Het
Or5k15 T C 16: 58,710,539 (GRCm39) I15V probably benign Het
Pds5b T C 5: 150,652,399 (GRCm39) L222P probably damaging Het
Rpl5 T C 5: 108,052,723 (GRCm39) F223S possibly damaging Het
Sacs A G 14: 61,445,052 (GRCm39) N2366S probably damaging Het
Sall2 T C 14: 52,550,916 (GRCm39) M758V probably benign Het
Sh3tc2 A G 18: 62,107,694 (GRCm39) E235G probably damaging Het
Slc49a4 T C 16: 35,539,787 (GRCm39) M345V probably benign Het
Smad2 T A 18: 76,435,663 (GRCm39) S419T probably benign Het
Sprr3 T C 3: 92,364,683 (GRCm39) I54V possibly damaging Het
Tbck A G 3: 132,456,981 (GRCm39) T632A probably benign Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Tmem178 C T 17: 81,293,693 (GRCm39) T162I probably benign Het
Zfp619 A G 7: 39,186,280 (GRCm39) H770R probably damaging Het
Zfp938 A G 10: 82,062,105 (GRCm39) S172P possibly damaging Het
Other mutations in Or6aa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02228:Or6aa1 APN 7 86,044,286 (GRCm39) missense possibly damaging 0.50
IGL02902:Or6aa1 APN 7 86,043,743 (GRCm39) utr 3 prime probably benign
IGL02937:Or6aa1 APN 7 86,043,798 (GRCm39) missense possibly damaging 0.89
BB001:Or6aa1 UTSW 7 86,043,938 (GRCm39) missense probably damaging 1.00
BB011:Or6aa1 UTSW 7 86,043,938 (GRCm39) missense probably damaging 1.00
R1455:Or6aa1 UTSW 7 86,043,803 (GRCm39) missense probably damaging 0.97
R1524:Or6aa1 UTSW 7 86,044,020 (GRCm39) missense probably benign 0.01
R1762:Or6aa1 UTSW 7 86,044,353 (GRCm39) missense probably damaging 0.97
R3014:Or6aa1 UTSW 7 86,043,884 (GRCm39) missense probably benign 0.19
R3027:Or6aa1 UTSW 7 86,043,761 (GRCm39) missense probably benign 0.00
R4073:Or6aa1 UTSW 7 86,044,155 (GRCm39) missense probably damaging 0.98
R4502:Or6aa1 UTSW 7 86,044,485 (GRCm39) missense possibly damaging 0.49
R4607:Or6aa1 UTSW 7 86,043,718 (GRCm39) splice site probably null
R4608:Or6aa1 UTSW 7 86,043,718 (GRCm39) splice site probably null
R7134:Or6aa1 UTSW 7 86,044,752 (GRCm39) start gained probably benign
R7298:Or6aa1 UTSW 7 86,044,131 (GRCm39) missense probably damaging 1.00
R7827:Or6aa1 UTSW 7 86,043,765 (GRCm39) nonsense probably null
R7924:Or6aa1 UTSW 7 86,043,938 (GRCm39) missense probably damaging 1.00
R8160:Or6aa1 UTSW 7 86,044,473 (GRCm39) missense possibly damaging 0.61
R8294:Or6aa1 UTSW 7 86,044,487 (GRCm39) missense probably damaging 1.00
R9465:Or6aa1 UTSW 7 86,043,864 (GRCm39) missense probably benign 0.00
R9725:Or6aa1 UTSW 7 86,043,973 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CATGATGCAGCTGAAAACCTC -3'
(R):5'- TTCTAGGGTTTCCAGGCTCC -3'

Sequencing Primer
(F):5'- CTGAAAACCTCAGGCAAATGTG -3'
(R):5'- AGGCTCCTCTTCACTGCAG -3'
Posted On 2015-07-21