Incidental Mutation 'R3609:Or4a47'
ID 269180
Institutional Source Beutler Lab
Gene Symbol Or4a47
Ensembl Gene ENSMUSG00000075073
Gene Name olfactory receptor family 4 subfamily A member 47
Synonyms MOR231-1, Olfr1256, GA_x6K02T2Q125-51276848-51275928
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R3609 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89665367-89666287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89665420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 290 (S290P)
Ref Sequence ENSEMBL: ENSMUSP00000149123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099763] [ENSMUST00000111520] [ENSMUST00000213833] [ENSMUST00000215613]
AlphaFold Q8VGP1
Predicted Effect probably damaging
Transcript: ENSMUST00000099763
AA Change: S290P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097351
Gene: ENSMUSG00000075073
AA Change: S290P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 5.3e-28 PFAM
Pfam:7tm_4 137 278 7.1e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111520
AA Change: S290P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107145
Gene: ENSMUSG00000075073
AA Change: S290P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 1.3e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213833
AA Change: S290P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215613
AA Change: S290P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifc A T 10: 85,836,502 (GRCm39) M1K probably null Het
Cc2d2a A T 5: 43,869,668 (GRCm39) E856D probably damaging Het
Ces1c A T 8: 93,846,960 (GRCm39) I98N probably damaging Het
Clec4b1 T A 6: 123,027,591 (GRCm39) L16Q probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dop1b A G 16: 93,536,220 (GRCm39) Y106C probably damaging Het
Irak3 G T 10: 119,981,582 (GRCm39) T441K possibly damaging Het
Kif18a A C 2: 109,168,941 (GRCm39) D833A probably benign Het
Lypd8l G A 11: 58,503,384 (GRCm39) T48I possibly damaging Het
Morc2b A G 17: 33,355,252 (GRCm39) V840A probably damaging Het
Or5al1 G A 2: 85,989,976 (GRCm39) T246I probably benign Het
Or5p57 A G 7: 107,665,576 (GRCm39) F143S probably damaging Het
Or8k23 G C 2: 86,185,826 (GRCm39) A300G probably damaging Het
Pgap6 G A 17: 26,337,860 (GRCm39) V415I probably benign Het
Rest A C 5: 77,430,647 (GRCm39) N1022T probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Tsc2 A C 17: 24,841,524 (GRCm39) I365S possibly damaging Het
Ttn C T 2: 76,589,603 (GRCm39) R21217H probably damaging Het
Vim A T 2: 13,583,437 (GRCm39) H253L possibly damaging Het
Vmn2r71 T A 7: 85,268,870 (GRCm39) C358S probably damaging Het
Other mutations in Or4a47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Or4a47 APN 2 89,665,802 (GRCm39) nonsense probably null
IGL01082:Or4a47 APN 2 89,674,407 (GRCm39) unclassified probably benign
IGL01613:Or4a47 APN 2 89,666,152 (GRCm39) missense probably damaging 0.98
IGL01969:Or4a47 APN 2 89,666,064 (GRCm39) missense probably benign 0.01
IGL02625:Or4a47 APN 2 89,665,740 (GRCm39) missense probably damaging 1.00
R0843:Or4a47 UTSW 2 89,665,960 (GRCm39) missense probably benign 0.01
R1270:Or4a47 UTSW 2 89,665,666 (GRCm39) missense possibly damaging 0.90
R1521:Or4a47 UTSW 2 89,665,516 (GRCm39) nonsense probably null
R2219:Or4a47 UTSW 2 89,665,769 (GRCm39) missense probably damaging 1.00
R2881:Or4a47 UTSW 2 89,675,328 (GRCm39) splice site probably null
R3121:Or4a47 UTSW 2 89,665,858 (GRCm39) missense probably benign
R4984:Or4a47 UTSW 2 89,666,157 (GRCm39) missense probably damaging 1.00
R5153:Or4a47 UTSW 2 89,665,578 (GRCm39) missense possibly damaging 0.77
R5640:Or4a47 UTSW 2 89,666,282 (GRCm39) missense probably benign 0.08
R7198:Or4a47 UTSW 2 89,666,076 (GRCm39) missense probably damaging 1.00
R7862:Or4a47 UTSW 2 89,665,468 (GRCm39) missense probably benign 0.16
R8100:Or4a47 UTSW 2 89,666,029 (GRCm39) nonsense probably null
R8487:Or4a47 UTSW 2 89,665,609 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CCTGTCCAGGTATAGTGATAAACAAG -3'
(R):5'- AAGGGAGGTGGAAAGCTCTCTC -3'

Sequencing Primer
(F):5'- AGTAGTTCAACCACTGATTTTAGTTG -3'
(R):5'- AGGTGGAAAGCTCTCTCTACCTG -3'
Posted On 2015-02-19