Incidental Mutation 'IGL01965:Olfr569'
ID 182486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr569
Ensembl Gene ENSMUSG00000062142
Gene Name olfactory receptor 569
Synonyms MOR30-1, GA_x6K02T2PBJ9-5599295-5598351
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01965
Quality Score
Status
Chromosome 7
Chromosomal Location 102883709-102890882 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102887607 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 182 (E182G)
Ref Sequence ENSEMBL: ENSMUSP00000149088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078191] [ENSMUST00000217024]
AlphaFold Q8VGZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000078191
AA Change: E182G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077321
Gene: ENSMUSG00000062142
AA Change: E182G

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.2e-113 PFAM
Pfam:7TM_GPCR_Srsx 37 229 1.3e-9 PFAM
Pfam:7tm_1 43 294 1.9e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217024
AA Change: E182G

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik T A 10: 51,756,982 noncoding transcript Het
Adm C T 7: 110,628,625 L67F probably benign Het
Bcl10 C T 3: 145,933,184 R194* probably null Het
Brat1 T C 5: 140,718,056 V688A probably benign Het
Cep57 T A 9: 13,821,520 probably benign Het
Dhx57 G A 17: 80,268,850 R604W probably damaging Het
Fndc3a A G 14: 72,540,402 I1121T probably benign Het
Fry A G 5: 150,381,621 E597G probably damaging Het
Gabra2 A G 5: 71,008,075 probably benign Het
Golgb1 A G 16: 36,917,920 D2207G probably damaging Het
Htr4 T A 18: 62,437,669 M265K probably damaging Het
Igf2r C T 17: 12,704,338 V1195M probably benign Het
Itga2 C A 13: 114,848,064 probably benign Het
Itih3 T C 14: 30,915,720 H494R probably damaging Het
Itpkb C A 1: 180,332,405 T32K probably damaging Het
Kif16b A T 2: 142,848,405 D252E probably damaging Het
Klhl33 A G 14: 50,891,730 Y681H probably damaging Het
Lats1 T A 10: 7,701,706 V198E probably benign Het
Me3 A G 7: 89,851,743 D554G probably benign Het
Mindy4 C T 6: 55,260,532 probably benign Het
Nipa2 G A 7: 55,944,623 probably benign Het
Olfr1162 A G 2: 88,050,436 F63L probably benign Het
Olfr1221 G A 2: 89,112,191 T107I probably benign Het
Olfr916 A T 9: 38,657,622 F257I probably benign Het
Ptgis A T 2: 167,208,253 W319R probably benign Het
Pygl C T 12: 70,191,114 A717T probably benign Het
Rbbp8 A T 18: 11,722,260 K514I probably benign Het
Scn9a A T 2: 66,484,433 L1636H probably damaging Het
Serpina3j A G 12: 104,314,804 T79A probably benign Het
Sfxn4 A G 19: 60,858,744 probably benign Het
Shc2 T A 10: 79,627,189 probably benign Het
Sim2 A T 16: 94,121,178 Y294F probably benign Het
Tep1 A G 14: 50,863,495 probably benign Het
Ubr1 A G 2: 120,875,398 L1528P probably damaging Het
Usp53 A G 3: 122,961,153 probably null Het
Vmn2r87 G T 10: 130,479,055 L221I possibly damaging Het
Other mutations in Olfr569
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:Olfr569 APN 7 102887607 missense probably damaging 1.00
IGL02885:Olfr569 APN 7 102888036 missense possibly damaging 0.83
IGL03339:Olfr569 APN 7 102887782 missense probably benign 0.02
R0383:Olfr569 UTSW 7 102887251 missense possibly damaging 0.91
R1767:Olfr569 UTSW 7 102887626 missense probably damaging 1.00
R1793:Olfr569 UTSW 7 102888043 missense probably benign 0.44
R1812:Olfr569 UTSW 7 102888078 missense probably benign 0.32
R6061:Olfr569 UTSW 7 102887951 missense probably benign 0.31
R7855:Olfr569 UTSW 7 102887628 missense probably benign 0.01
R8155:Olfr569 UTSW 7 102887245 missense probably benign 0.00
R8890:Olfr569 UTSW 7 102887492 nonsense probably null
R9131:Olfr569 UTSW 7 102887979 missense probably benign 0.07
R9188:Olfr569 UTSW 7 102887389 missense possibly damaging 0.95
R9398:Olfr569 UTSW 7 102887793 missense probably damaging 1.00
Z1177:Olfr569 UTSW 7 102887761 missense probably damaging 1.00
Posted On 2014-05-07