Incidental Mutation 'R6636:Or4a27'
ID 525435
Institutional Source Beutler Lab
Gene Symbol Or4a27
Ensembl Gene ENSMUSG00000075119
Gene Name olfactory receptor family 4 subfamily A member 27
Synonyms MOR225-10P, Olfr1197, GA_x6K02T2Q125-50202854-50201910, MOR225-14
MMRRC Submission 044757-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6636 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88558997-88559941 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88559185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 253 (I253V)
Ref Sequence ENSEMBL: ENSMUSP00000150290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099815] [ENSMUST00000213118]
AlphaFold Q7TR13
Predicted Effect probably benign
Transcript: ENSMUST00000099815
AA Change: I253V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000097403
Gene: ENSMUSG00000075119
AA Change: I253V

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 1.3e-45 PFAM
Pfam:7tm_1 39 285 7.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213118
AA Change: I253V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 98% (41/42)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,659,251 (GRCm39) V513A probably damaging Het
Adgrl4 G A 3: 151,223,410 (GRCm39) W621* probably null Het
Ap4m1 A G 5: 138,170,437 (GRCm39) probably benign Het
Atp6v1b2 T C 8: 69,554,026 (GRCm39) Y68H probably damaging Het
AY761185 T A 8: 21,434,556 (GRCm39) probably null Het
C3ar1 T C 6: 122,828,013 (GRCm39) D68G probably damaging Het
Cdh10 A T 15: 18,985,259 (GRCm39) I308F probably damaging Het
Coq8a A T 1: 180,006,552 (GRCm39) S112T probably benign Het
Dmgdh A T 13: 93,845,706 (GRCm39) E453D probably benign Het
Fryl C A 5: 73,290,655 (GRCm39) R83L probably benign Het
Gm4861 C T 3: 137,256,760 (GRCm39) probably null Het
Gnai1 T C 5: 18,478,472 (GRCm39) D231G probably damaging Het
Hfe C G 13: 23,890,778 (GRCm39) E120D possibly damaging Het
Hfe T C 13: 23,890,779 (GRCm39) E120G possibly damaging Het
Hgd A G 16: 37,435,736 (GRCm39) N149S possibly damaging Het
Kcnb1 T C 2: 166,947,774 (GRCm39) D358G probably damaging Het
Lama2 C A 10: 27,000,564 (GRCm39) V1653L probably benign Het
Lamc1 A T 1: 153,117,721 (GRCm39) I947N possibly damaging Het
Lamp3 A G 16: 19,519,983 (GRCm39) F67L probably benign Het
Ltbp2 T C 12: 84,922,612 (GRCm39) I132V probably benign Het
Muc4 C T 16: 32,575,255 (GRCm39) P1280L probably benign Het
Muc5ac T C 7: 141,372,342 (GRCm39) Y2659H possibly damaging Het
Nmbr T C 10: 14,645,978 (GRCm39) S168P probably benign Het
Nsl1 A G 1: 190,807,324 (GRCm39) T168A probably benign Het
Or2g7 G A 17: 38,378,115 (GRCm39) D18N probably damaging Het
Or5b113 T C 19: 13,342,589 (GRCm39) V199A probably benign Het
Or8s5 A G 15: 98,238,831 (GRCm39) F13S probably benign Het
Pde1c A C 6: 56,157,087 (GRCm39) V191G probably damaging Het
Proc T A 18: 32,256,813 (GRCm39) I285F probably benign Het
R3hdm1 GAA GAAA 1: 128,090,548 (GRCm39) probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Spa17 A T 9: 37,523,270 (GRCm39) S6T probably benign Het
Spp1 T C 5: 104,588,396 (GRCm39) V267A possibly damaging Het
Stk17b A T 1: 53,800,247 (GRCm39) Y244N probably damaging Het
Tal1 A G 4: 114,925,789 (GRCm39) N286S probably damaging Het
Tgm7 T A 2: 120,931,571 (GRCm39) R197S probably damaging Het
Tmcc3 T A 10: 94,414,286 (GRCm39) V27E probably benign Het
Topaz1 A T 9: 122,578,851 (GRCm39) Q587L probably benign Het
Trim33 C T 3: 103,261,035 (GRCm39) A1061V probably damaging Het
Ttll1 C G 15: 83,384,147 (GRCm39) W160S probably damaging Het
Utp25 A T 1: 192,796,075 (GRCm39) F197I probably damaging Het
Wnt7a A G 6: 91,371,540 (GRCm39) Y141H probably benign Het
Other mutations in Or4a27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Or4a27 APN 2 88,559,409 (GRCm39) missense probably damaging 1.00
IGL01515:Or4a27 APN 2 88,559,352 (GRCm39) missense probably benign
IGL01822:Or4a27 APN 2 88,559,136 (GRCm39) missense probably benign 0.03
IGL02060:Or4a27 APN 2 88,559,907 (GRCm39) missense probably damaging 0.98
IGL02466:Or4a27 APN 2 88,559,739 (GRCm39) missense probably damaging 1.00
IGL02698:Or4a27 APN 2 88,559,815 (GRCm39) missense probably damaging 1.00
R0336:Or4a27 UTSW 2 88,559,498 (GRCm39) missense possibly damaging 0.47
R1037:Or4a27 UTSW 2 88,559,376 (GRCm39) missense probably damaging 1.00
R1120:Or4a27 UTSW 2 88,559,281 (GRCm39) missense probably damaging 1.00
R1674:Or4a27 UTSW 2 88,559,601 (GRCm39) missense probably damaging 0.99
R1801:Or4a27 UTSW 2 88,559,608 (GRCm39) missense probably damaging 1.00
R1860:Or4a27 UTSW 2 88,559,674 (GRCm39) missense probably damaging 1.00
R1861:Or4a27 UTSW 2 88,559,674 (GRCm39) missense probably damaging 1.00
R2049:Or4a27 UTSW 2 88,559,089 (GRCm39) missense probably damaging 1.00
R2308:Or4a27 UTSW 2 88,559,428 (GRCm39) missense probably damaging 0.97
R2411:Or4a27 UTSW 2 88,559,741 (GRCm39) missense probably benign 0.06
R4707:Or4a27 UTSW 2 88,559,056 (GRCm39) missense possibly damaging 0.62
R5000:Or4a27 UTSW 2 88,559,910 (GRCm39) missense probably damaging 0.96
R5157:Or4a27 UTSW 2 88,559,892 (GRCm39) missense probably benign
R6000:Or4a27 UTSW 2 88,559,575 (GRCm39) missense probably damaging 1.00
R6021:Or4a27 UTSW 2 88,559,294 (GRCm39) nonsense probably null
R6389:Or4a27 UTSW 2 88,559,016 (GRCm39) missense probably benign 0.00
R6637:Or4a27 UTSW 2 88,559,185 (GRCm39) missense probably benign 0.01
R6979:Or4a27 UTSW 2 88,559,528 (GRCm39) missense probably benign 0.03
R7618:Or4a27 UTSW 2 88,559,180 (GRCm39) nonsense probably null
R8382:Or4a27 UTSW 2 88,559,857 (GRCm39) missense probably damaging 0.98
R9177:Or4a27 UTSW 2 88,559,174 (GRCm39) nonsense probably null
R9293:Or4a27 UTSW 2 88,559,799 (GRCm39) missense probably benign 0.00
R9404:Or4a27 UTSW 2 88,559,551 (GRCm39) missense probably benign
R9660:Or4a27 UTSW 2 88,559,142 (GRCm39) missense probably damaging 1.00
X0020:Or4a27 UTSW 2 88,559,725 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGACTTGTCAAATAGTAGCTGAC -3'
(R):5'- AATTGCCAACTCTGGGATGG -3'

Sequencing Primer
(F):5'- CTTGTCAAATAGTAGCTGACCTAGG -3'
(R):5'- CCAACTCTGGGATGGTGGTTG -3'
Posted On 2018-06-22