Incidental Mutation 'R8318:Or4a81'
ID 641790
Institutional Source Beutler Lab
Gene Symbol Or4a81
Ensembl Gene ENSMUSG00000075074
Gene Name olfactory receptor family 4 subfamily A member 81
Synonyms Olfr1254, GA_x6K02T2Q125-51230155-51229211, MOR231-13
MMRRC Submission 067855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R8318 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 89618750-89619694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89619321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 125 (C125Y)
Ref Sequence ENSEMBL: ENSMUSP00000107148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099764] [ENSMUST00000111523]
AlphaFold Q8VFB1
Predicted Effect possibly damaging
Transcript: ENSMUST00000099764
AA Change: C125Y

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097352
Gene: ENSMUSG00000075074
AA Change: C125Y

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 9.7e-30 PFAM
Pfam:7tm_4 137 278 1.3e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111523
AA Change: C125Y

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107148
Gene: ENSMUSG00000075074
AA Change: C125Y

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.4e-46 PFAM
Pfam:7tm_1 39 285 5.6e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 T C 8: 23,605,567 (GRCm39) V1145A probably damaging Het
Ankrd35 G A 3: 96,592,038 (GRCm39) V775M probably damaging Het
Ankrd63 C T 2: 118,533,721 (GRCm39) V67M unknown Het
Arhgef5 T A 6: 43,252,933 (GRCm39) probably null Het
Atp13a2 A T 4: 140,734,335 (GRCm39) Q1152H probably benign Het
Carmil1 A G 13: 24,220,442 (GRCm39) L1094P probably benign Het
Col7a1 G A 9: 108,787,442 (GRCm39) A612T unknown Het
Csgalnact1 T C 8: 68,913,785 (GRCm39) E140G probably damaging Het
Ddx18 G T 1: 121,493,816 (GRCm39) A56D probably benign Het
Dixdc1 T C 9: 50,595,709 (GRCm39) probably null Het
Dpys G A 15: 39,648,061 (GRCm39) T498I probably benign Het
Ear6 A G 14: 52,091,722 (GRCm39) I90V probably benign Het
Egr1 T C 18: 34,996,663 (GRCm39) S482P probably damaging Het
Ehbp1 C T 11: 22,087,980 (GRCm39) R393Q probably benign Het
Enpep A G 3: 129,063,986 (GRCm39) I927T probably damaging Het
Ermard C T 17: 15,242,334 (GRCm39) T406I possibly damaging Het
Etl4 T C 2: 20,793,341 (GRCm39) S971P probably damaging Het
Fan1 C A 7: 63,999,803 (GRCm39) V861F probably damaging Het
Fbp1 A G 13: 63,012,825 (GRCm39) F328L probably benign Het
Fgd5 T A 6: 91,964,477 (GRCm39) F237I probably benign Het
Fmn1 T C 2: 113,195,502 (GRCm39) S401P unknown Het
Gabbr1 G A 17: 37,373,435 (GRCm39) E444K probably benign Het
Htr3b C A 9: 48,876,177 (GRCm39) probably benign Het
Ighv1-49 A G 12: 115,019,051 (GRCm39) F48S probably damaging Het
Kcnh4 A G 11: 100,643,154 (GRCm39) L371P probably damaging Het
Kcnk15 A G 2: 163,700,189 (GRCm39) T143A probably damaging Het
Klk1b4 T G 7: 43,860,335 (GRCm39) S150A possibly damaging Het
Krt6a A T 15: 101,602,682 (GRCm39) M1K probably null Het
Lama2 G A 10: 26,860,334 (GRCm39) S3051L probably damaging Het
Lgals4 T C 7: 28,533,940 (GRCm39) M38T probably benign Het
Mdn1 T C 4: 32,735,897 (GRCm39) probably null Het
Mindy1 A G 3: 95,199,936 (GRCm39) S246G probably damaging Het
Myo18a A G 11: 77,714,215 (GRCm39) T770A probably benign Het
Or13d1 T C 4: 52,971,104 (GRCm39) V161A probably benign Het
Or4c116 T A 2: 88,942,242 (GRCm39) I205F probably benign Het
Pcdhb19 T A 18: 37,630,999 (GRCm39) S265T possibly damaging Het
Pcna T C 2: 132,093,348 (GRCm39) Y133C probably damaging Het
Polr2b A G 5: 77,483,576 (GRCm39) E684G probably benign Het
Pon2 T C 6: 5,265,425 (GRCm39) I321V probably benign Het
Prss54 T A 8: 96,291,094 (GRCm39) M169L probably damaging Het
Rps3 T A 7: 99,132,938 (GRCm39) probably benign Het
Senp1 T C 15: 97,962,748 (GRCm39) D312G probably damaging Het
Serpina10 T A 12: 103,583,107 (GRCm39) T446S possibly damaging Het
Slc2a5 A G 4: 150,224,115 (GRCm39) D241G possibly damaging Het
Slc7a11 A G 3: 50,372,435 (GRCm39) probably null Het
Tgfbrap1 G C 1: 43,095,829 (GRCm39) C536W probably damaging Het
Trip11 C T 12: 101,879,063 (GRCm39) G9S unknown Het
Zfp626 C A 7: 27,517,670 (GRCm39) T217K possibly damaging Het
Other mutations in Or4a81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Or4a81 APN 2 89,619,129 (GRCm39) missense probably damaging 1.00
IGL02822:Or4a81 APN 2 89,619,444 (GRCm39) missense possibly damaging 0.56
R1166:Or4a81 UTSW 2 89,619,675 (GRCm39) missense possibly damaging 0.74
R1639:Or4a81 UTSW 2 89,619,589 (GRCm39) missense probably damaging 1.00
R2248:Or4a81 UTSW 2 89,619,524 (GRCm39) missense possibly damaging 0.59
R2256:Or4a81 UTSW 2 89,618,814 (GRCm39) missense probably benign
R2351:Or4a81 UTSW 2 89,619,522 (GRCm39) missense probably damaging 0.97
R4432:Or4a81 UTSW 2 89,619,078 (GRCm39) missense possibly damaging 0.76
R4649:Or4a81 UTSW 2 89,619,637 (GRCm39) missense probably benign 0.19
R4788:Or4a81 UTSW 2 89,619,480 (GRCm39) missense probably damaging 1.00
R6454:Or4a81 UTSW 2 89,619,522 (GRCm39) missense probably damaging 0.97
R6591:Or4a81 UTSW 2 89,619,332 (GRCm39) nonsense probably null
R6691:Or4a81 UTSW 2 89,619,332 (GRCm39) nonsense probably null
R7418:Or4a81 UTSW 2 89,619,320 (GRCm39) nonsense probably null
R7451:Or4a81 UTSW 2 89,619,453 (GRCm39) missense probably benign
R8024:Or4a81 UTSW 2 89,619,390 (GRCm39) missense probably benign 0.07
R8080:Or4a81 UTSW 2 89,618,971 (GRCm39) missense possibly damaging 0.78
R8251:Or4a81 UTSW 2 89,619,567 (GRCm39) missense probably damaging 1.00
R8475:Or4a81 UTSW 2 89,619,586 (GRCm39) missense probably benign 0.01
R9166:Or4a81 UTSW 2 89,619,291 (GRCm39) missense probably damaging 1.00
R9460:Or4a81 UTSW 2 89,618,778 (GRCm39) missense probably benign
R9474:Or4a81 UTSW 2 89,619,506 (GRCm39) nonsense probably null
R9677:Or4a81 UTSW 2 89,619,161 (GRCm39) missense possibly damaging 0.95
X0022:Or4a81 UTSW 2 89,619,075 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTGTCAGAGCACACAAGCAC -3'
(R):5'- CCTTGAGCTCCCCAATGTAC -3'

Sequencing Primer
(F):5'- TCAGAGCACACAAGCACCAATAATG -3'
(R):5'- GCCTATCTGTCACTCATGGATG -3'
Posted On 2020-07-28