Incidental Mutation 'IGL01872:Olfr541'
ID 178739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr541
Ensembl Gene ENSMUSG00000057997
Gene Name olfactory receptor 541
Synonyms GA_x6K02T2PBJ9-42850324-42851256, MOR253-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL01872
Quality Score
Status
Chromosome 7
Chromosomal Location 140697267-140705606 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140704263 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 4 (L4P)
Ref Sequence ENSEMBL: ENSMUSP00000147660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080681] [ENSMUST00000209857] [ENSMUST00000210357]
AlphaFold Q8VGM0
Predicted Effect probably benign
Transcript: ENSMUST00000080681
AA Change: L4P

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079508
Gene: ENSMUSG00000057997
AA Change: L4P

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000209857
AA Change: L4P

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000210357
AA Change: L4P

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,295,490 probably benign Het
Alpk2 A G 18: 65,304,753 S1657P probably benign Het
Alx4 A G 2: 93,677,473 N371S probably benign Het
Cby1 T A 15: 79,665,742 W59R probably damaging Het
Chmp1a A T 8: 123,206,237 L159Q probably damaging Het
Ciz1 T C 2: 32,378,109 probably benign Het
Cnksr1 A G 4: 134,228,964 I603T probably benign Het
Dph1 A C 11: 75,181,341 F220C probably damaging Het
Epha4 T A 1: 77,383,039 M726L probably benign Het
Eps8l1 C T 7: 4,472,296 probably benign Het
Fbxo24 C A 5: 137,613,725 R313L probably damaging Het
Fgf4 C T 7: 144,862,258 R119* probably null Het
Grb10 T C 11: 11,970,547 T24A probably damaging Het
Ifi27 C T 12: 103,435,460 A2V probably damaging Het
Ipmk T A 10: 71,372,876 M165K probably damaging Het
Kcnk2 C T 1: 189,256,583 G266R probably damaging Het
Mak A C 13: 41,056,655 M35R probably damaging Het
Mlxipl A T 5: 135,113,691 I120F probably damaging Het
Nav1 A G 1: 135,454,076 V1423A probably damaging Het
Olfm4 T C 14: 80,021,928 *506Q probably null Het
Olfr1000 T A 2: 85,608,329 M194L probably benign Het
Olfr597 T C 7: 103,320,972 V187A probably benign Het
Opn4 T A 14: 34,597,209 probably benign Het
Otof G A 5: 30,379,254 probably benign Het
Pde5a G A 3: 122,794,369 probably null Het
Pik3r1 A T 13: 101,689,117 D87E probably benign Het
Rbm6 A T 9: 107,783,715 V883E probably damaging Het
Rptn A G 3: 93,396,847 S496G probably benign Het
Sap130 A G 18: 31,674,420 R427G probably damaging Het
Slc26a4 T C 12: 31,539,203 S415G probably benign Het
Slc5a1 T C 5: 33,154,637 S458P probably damaging Het
Smg1 A G 7: 118,148,944 probably benign Het
Sspo G T 6: 48,454,689 V639L probably damaging Het
Ttn A G 2: 76,898,733 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps54 G A 11: 21,306,940 A683T probably damaging Het
Zfp354a A T 11: 51,069,337 N123I possibly damaging Het
Zfpm2 T C 15: 41,102,387 V624A probably benign Het
Other mutations in Olfr541
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Olfr541 APN 7 140704437 missense probably damaging 1.00
IGL02814:Olfr541 APN 7 140705133 missense probably damaging 1.00
R0690:Olfr541 UTSW 7 140704787 missense possibly damaging 0.88
R1019:Olfr541 UTSW 7 140704494 missense probably damaging 1.00
R1665:Olfr541 UTSW 7 140704794 missense probably damaging 1.00
R1696:Olfr541 UTSW 7 140704496 nonsense probably null
R4065:Olfr541 UTSW 7 140704269 missense probably benign
R4517:Olfr541 UTSW 7 140705091 missense probably damaging 1.00
R5549:Olfr541 UTSW 7 140704799 splice site probably null
R6327:Olfr541 UTSW 7 140704703 missense probably damaging 1.00
R7288:Olfr541 UTSW 7 140705029 nonsense probably null
R7307:Olfr541 UTSW 7 140705147 missense probably benign 0.39
R7454:Olfr541 UTSW 7 140704634 missense probably damaging 1.00
R8725:Olfr541 UTSW 7 140704694 missense probably benign
R9404:Olfr541 UTSW 7 140704809 missense probably damaging 1.00
Posted On 2014-05-07