Incidental Mutation 'IGL01011:Olfr541'
ID 53652
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 # IGL01011
Quality Score
Status
Chromosome 7
Chromosomal Location 140697267-140705606 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140704437 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 62 (Y62F)
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: Y62F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079508
Gene: ENSMUSG00000057997
AA Change: Y62F

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 probably damaging
Transcript: ENSMUST00000209857
AA Change: Y62F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210357
AA Change: Y62F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,258,246 C282S probably damaging Het
Abca12 T C 1: 71,263,632 I2143V probably benign Het
Adgrg6 A C 10: 14,409,798 I1148S probably damaging Het
Aox4 C T 1: 58,240,775 R517* probably null Het
Arnt2 T A 7: 84,285,829 D289V probably benign Het
Atad2b A G 12: 4,965,984 N570S probably benign Het
Aven G A 2: 112,629,785 D208N possibly damaging Het
Bcl9l A G 9: 44,505,179 D183G possibly damaging Het
Cd300lf A G 11: 115,124,333 S144P probably benign Het
Chd8 C A 14: 52,231,532 G543V possibly damaging Het
Chrm2 A G 6: 36,524,438 N410S probably benign Het
Clip4 A G 17: 71,849,939 I590V probably benign Het
Cnbp C T 6: 87,845,700 R27H probably benign Het
Col4a3 T C 1: 82,682,301 V889A unknown Het
Cxcl5 T C 5: 90,760,523 probably benign Het
Dennd6a G T 14: 26,603,054 V171F probably damaging Het
Dhx38 T C 8: 109,562,691 I26V probably benign Het
Dscaml1 A G 9: 45,683,672 D691G possibly damaging Het
Etfdh A T 3: 79,612,061 probably benign Het
Fbn2 G A 18: 58,095,240 probably benign Het
Foxp2 T A 6: 15,438,019 *715R probably null Het
Ftl1 A T 7: 45,458,646 D65E probably benign Het
Galm A G 17: 80,183,280 T289A probably benign Het
Gm20721 A G 2: 174,345,738 D1049G probably damaging Het
Gm28778 T C 1: 53,299,118 V47A probably benign Het
Gm5414 T C 15: 101,628,134 S19G probably benign Het
Hdac7 T A 15: 97,793,935 E835D possibly damaging Het
Hist1h1t C T 13: 23,696,049 L62F probably damaging Het
Hspg2 C T 4: 137,559,335 T3663I probably damaging Het
Kdm4d A T 9: 14,464,219 D114E probably benign Het
Kif5a A T 10: 127,239,196 V516E probably benign Het
Lrrtm1 A G 6: 77,244,235 probably null Het
Miga1 G T 3: 152,276,690 T519K probably benign Het
Mtfr1l G A 4: 134,529,200 P182S probably damaging Het
Myo15 A G 11: 60,476,992 I193V probably benign Het
Myo1e T C 9: 70,316,589 probably benign Het
Olfr190 T A 16: 59,074,430 T217S probably benign Het
Olfr376 A T 11: 73,375,007 Q86L probably benign Het
Pias1 T C 9: 62,912,855 T277A probably benign Het
Slamf6 T A 1: 171,938,099 H263Q probably benign Het
Snrnp48 A G 13: 38,220,764 D202G probably damaging Het
Snx13 T A 12: 35,098,280 D269E probably damaging Het
Tiam2 A T 17: 3,415,028 D344V probably benign Het
Tmem62 G T 2: 120,979,219 K127N possibly damaging Het
Trav15-1-dv6-1 C T 14: 53,560,035 T46I possibly damaging Het
Trav16d-dv11 C T 14: 53,047,584 T39M possibly damaging Het
Trio T C 15: 27,736,489 D2794G probably damaging Het
Trpc7 C T 13: 56,804,540 G551D probably damaging Het
Ttc37 G A 13: 76,122,665 C127Y probably damaging Het
Ttn A G 2: 76,814,290 V11294A possibly damaging Het
Ubap2 G A 4: 41,195,328 probably benign Het
Ubap2l G A 3: 90,009,256 Q915* probably null Het
Ubfd1 A G 7: 122,078,472 E340G probably benign Het
Vil1 T C 1: 74,434,887 probably null Het
Vmn1r6 T G 6: 57,002,544 L42V probably benign Het
Vps13c A G 9: 67,926,955 T1635A probably damaging Het
Zfhx3 T A 8: 108,793,594 H449Q probably benign Het
Zfp750 A T 11: 121,513,096 S318T probably benign Het
Other mutations in Olfr541
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01872:Olfr541 APN 7 140704263 missense possibly damaging 0.59
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 2013-06-28