Incidental Mutation 'R4517:Olfr541'
ID 332952
Institutional Source Beutler Lab
Gene Symbol Olfr541
Ensembl Gene ENSMUSG00000057997
Gene Name olfactory receptor 541
Synonyms GA_x6K02T2PBJ9-42850324-42851256, MOR253-3
MMRRC Submission 041761-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R4517 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140697267-140705606 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140705091 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 280 (Y280C)
Ref Sequence ENSEMBL: ENSMUSP00000148238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080681] [ENSMUST00000209857] [ENSMUST00000210357]
AlphaFold Q8VGM0
Predicted Effect probably damaging
Transcript: ENSMUST00000080681
AA Change: Y280C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079508
Gene: ENSMUSG00000057997
AA Change: Y280C

Pfam:7tm_4 33 309 2.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 37 180 5e-8 PFAM
Pfam:7tm_1 43 292 1.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209857
Predicted Effect probably damaging
Transcript: ENSMUST00000210357
AA Change: Y280C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 95% (39/41)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank A G 15: 27,562,749 (GRCm38) H181R possibly damaging Het
B4galnt4 A G 7: 141,067,722 (GRCm38) K408E probably damaging Het
Cd209a T A 8: 3,745,525 (GRCm38) D123V probably damaging Het
Cyp4f37 A G 17: 32,631,592 (GRCm38) I340V probably benign Het
Echs1 A G 7: 140,112,496 (GRCm38) S113P possibly damaging Het
Fam122c G A X: 53,293,499 (GRCm38) R94H possibly damaging Het
Fap T C 2: 62,530,715 (GRCm38) I391V probably benign Het
Glb1l C T 1: 75,208,703 (GRCm38) C121Y probably damaging Het
Glod4 T A 11: 76,243,571 (GRCm38) D25V probably damaging Het
Gpc5 T A 14: 115,552,239 (GRCm38) N508K possibly damaging Het
H2-M10.3 C T 17: 36,367,830 (GRCm38) probably null Het
Ibsp C A 5: 104,305,997 (GRCm38) S67* probably null Het
Ifit1bl2 C T 19: 34,629,764 (GRCm38) probably benign Het
Iqgap2 A G 13: 95,664,061 (GRCm38) probably null Het
Kcnma1 A G 14: 23,337,029 (GRCm38) S982P probably damaging Het
Kif5b T C 18: 6,213,272 (GRCm38) S707G probably benign Het
Lrrk2 A G 15: 91,705,120 (GRCm38) I437V probably benign Het
Mapkbp1 T C 2: 120,025,064 (GRCm38) probably benign Het
Mcu T C 10: 59,467,634 (GRCm38) Y127C probably damaging Het
Mlst8 T C 17: 24,476,057 (GRCm38) Y284C probably damaging Het
Nr2f2 T G 7: 70,358,122 (GRCm38) N204T probably benign Het
Olfr8 T A 10: 78,956,043 (GRCm38) Y279* probably null Het
Pcf11 T C 7: 92,646,488 (GRCm38) Y1451C probably damaging Het
Plekhn1 T C 4: 156,225,531 (GRCm38) S109G probably damaging Het
Rttn T C 18: 89,028,973 (GRCm38) S920P probably damaging Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Tas2r135 A T 6: 42,406,079 (GRCm38) H184L probably benign Het
Tmem38a C T 8: 72,572,161 (GRCm38) P20S possibly damaging Het
Ubqlnl C T 7: 104,149,718 (GRCm38) V191M probably benign Het
Vmn2r102 A G 17: 19,681,213 (GRCm38) Y534C probably damaging Het
Wdr62 A G 7: 30,270,258 (GRCm38) V259A probably damaging Het
Whrn A G 4: 63,461,280 (GRCm38) probably null Het
Other mutations in Olfr541
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Olfr541 APN 7 140,704,437 (GRCm38) missense probably damaging 1.00
IGL01872:Olfr541 APN 7 140,704,263 (GRCm38) missense possibly damaging 0.59
IGL02814:Olfr541 APN 7 140,705,133 (GRCm38) missense probably damaging 1.00
R0690:Olfr541 UTSW 7 140,704,787 (GRCm38) missense possibly damaging 0.88
R1019:Olfr541 UTSW 7 140,704,494 (GRCm38) missense probably damaging 1.00
R1665:Olfr541 UTSW 7 140,704,794 (GRCm38) missense probably damaging 1.00
R1696:Olfr541 UTSW 7 140,704,496 (GRCm38) nonsense probably null
R4065:Olfr541 UTSW 7 140,704,269 (GRCm38) missense probably benign
R5549:Olfr541 UTSW 7 140,704,799 (GRCm38) splice site probably null
R6327:Olfr541 UTSW 7 140,704,703 (GRCm38) missense probably damaging 1.00
R7288:Olfr541 UTSW 7 140,705,029 (GRCm38) nonsense probably null
R7307:Olfr541 UTSW 7 140,705,147 (GRCm38) missense probably benign 0.39
R7454:Olfr541 UTSW 7 140,704,634 (GRCm38) missense probably damaging 1.00
R8725:Olfr541 UTSW 7 140,704,694 (GRCm38) missense probably benign
R9404:Olfr541 UTSW 7 140,704,809 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-08-18