Incidental Mutation 'IGL00236:Olfr571'
ID 2337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr571
Ensembl Gene ENSMUSG00000043310
Gene Name olfactory receptor 571
Synonyms MOR21-1, GA_x6K02T2PBJ9-5620890-5619922
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock # IGL00236
Quality Score
Status
Chromosome 7
Chromosomal Location 102905090-102917536 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102909272 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 189 (H189R)
Ref Sequence ENSEMBL: ENSMUSP00000148964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061738] [ENSMUST00000214160] [ENSMUST00000215773]
AlphaFold E9Q407
Predicted Effect probably damaging
Transcript: ENSMUST00000061738
AA Change: H189R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062385
Gene: ENSMUSG00000043310
AA Change: H189R

DomainStartEndE-ValueType
Pfam:7tm_4 39 318 8.9e-91 PFAM
Pfam:7TM_GPCR_Srsx 43 177 3.1e-8 PFAM
Pfam:7tm_1 49 299 1.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214160
AA Change: H189R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215773
AA Change: H189R

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,443,697 V43A probably damaging Het
Ankrd17 A T 5: 90,233,928 S2460T probably damaging Het
Ap4e1 T C 2: 127,028,281 L176P probably damaging Het
Caprin2 A G 6: 148,843,071 I952T probably damaging Het
Cdkl4 A T 17: 80,525,276 probably benign Het
Cfap44 T C 16: 44,407,404 L156P probably damaging Het
Dock9 A G 14: 121,668,468 L90S probably benign Het
Efhb T C 17: 53,462,453 D276G probably damaging Het
Ep300 A G 15: 81,641,418 D1481G unknown Het
Fam83b T C 9: 76,490,978 I948V probably benign Het
Fbxl5 G T 5: 43,765,336 H247N probably damaging Het
Fn1 A G 1: 71,652,873 I37T probably benign Het
Hfe C T 13: 23,705,852 probably benign Het
Ighv1-36 A T 12: 114,880,150 L29Q possibly damaging Het
Inpp5e G T 2: 26,408,521 Q23K probably benign Het
L3mbtl1 T C 2: 162,967,063 S619P probably damaging Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Ntrk1 C T 3: 87,791,438 V99M possibly damaging Het
Olfr1489 A T 19: 13,633,539 I143F probably benign Het
Pard6a T C 8: 105,702,814 S135P probably damaging Het
Prss43 G T 9: 110,829,470 Q279H probably benign Het
Ptcd2 T C 13: 99,330,065 N207D probably benign Het
Ros1 T C 10: 52,194,890 I23V probably benign Het
Scg5 A G 2: 113,827,570 probably benign Het
Sh3bp5 T A 14: 31,379,390 K212* probably null Het
Slc25a30 C T 14: 75,766,925 G244D possibly damaging Het
Slc38a10 T C 11: 120,106,602 R689G probably damaging Het
Spatc1 A G 15: 76,284,794 D321G probably damaging Het
Stat4 A T 1: 52,102,878 Y628F probably damaging Het
Wdr35 G A 12: 9,019,900 V813I probably benign Het
Other mutations in Olfr571
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Olfr571 APN 7 102909719 missense possibly damaging 0.74
IGL01962:Olfr571 APN 7 102909847 utr 5 prime probably benign
IGL02110:Olfr571 APN 7 102909195 missense probably benign 0.13
R0306:Olfr571 UTSW 7 102909803 missense probably benign
R0790:Olfr571 UTSW 7 102909636 missense probably benign 0.02
R3791:Olfr571 UTSW 7 102909032 missense probably benign 0.14
R6461:Olfr571 UTSW 7 102909028 missense possibly damaging 0.62
R6793:Olfr571 UTSW 7 102909728 missense probably benign 0.00
R8327:Olfr571 UTSW 7 102909719 missense probably damaging 0.98
R8860:Olfr571 UTSW 7 102909129 missense probably benign 0.19
R9532:Olfr571 UTSW 7 102909539 missense probably benign 0.02
Posted On 2011-12-09