Incidental Mutation 'R7116:Olfr570'
ID 551773
Institutional Source Beutler Lab
Gene Symbol Olfr570
Ensembl Gene ENSMUSG00000073964
Gene Name olfactory receptor 570
Synonyms MOR8-3, GA_x6K02T2PBJ9-5611412-5612350
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock # R7116 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102894577-102901710 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102900635 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 89 (N89K)
Ref Sequence ENSEMBL: ENSMUSP00000148181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098215] [ENSMUST00000209778] [ENSMUST00000214160] [ENSMUST00000215773]
AlphaFold Q8VH12
Predicted Effect probably benign
Transcript: ENSMUST00000098215
AA Change: N89K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095817
Gene: ENSMUSG00000073964
AA Change: N89K

Pfam:7tm_4 32 309 6.9e-113 PFAM
Pfam:7TM_GPCR_Srsx 36 174 7.5e-11 PFAM
Pfam:7tm_1 42 292 2.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209778
AA Change: N89K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000214160
Predicted Effect probably benign
Transcript: ENSMUST00000215773
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,204,977 S109P probably damaging Het
Afg3l1 T G 8: 123,489,862 L280R probably damaging Het
Akap13 T A 7: 75,720,195 S129T probably benign Het
Ankrd11 A G 8: 122,896,130 S328P probably damaging Het
Aox3 A T 1: 58,153,530 E554D probably benign Het
Bcl11a T C 11: 24,163,839 V394A probably damaging Het
Cass4 A G 2: 172,427,969 Y657C unknown Het
Ccdc88a C T 11: 29,504,051 A1738V probably benign Het
Cfap74 T C 4: 155,455,061 F948L unknown Het
Chgb A T 2: 132,781,317 probably benign Het
Coro1c C T 5: 113,852,206 W138* probably null Het
Dgkb A G 12: 37,981,990 Q17R probably benign Het
Esco2 A G 14: 65,826,557 Y393H probably damaging Het
Eya3 T A 4: 132,694,799 D228E probably benign Het
Fat2 T C 11: 55,282,336 D2517G probably damaging Het
Fry T A 5: 150,395,869 probably null Het
Gal3st2b A T 1: 93,940,776 Q243L possibly damaging Het
Gimap9 C T 6: 48,678,055 A192V probably benign Het
Glg1 T A 8: 111,178,957 Q564L probably benign Het
H2-Aa A T 17: 34,283,627 Y188* probably null Het
Hira T C 16: 18,912,114 Y188H probably damaging Het
Ighv8-8 C T 12: 115,294,194 D76N probably benign Het
Irf6 T C 1: 193,167,597 F276L probably damaging Het
Itpr1 T C 6: 108,481,268 C2000R probably damaging Het
Jakmip3 T C 7: 139,020,250 V293A possibly damaging Het
Kcnh7 A G 2: 62,877,270 V132A probably benign Het
Kcnj1 A G 9: 32,396,981 T234A possibly damaging Het
Kpna3 T A 14: 61,368,186 N470I probably benign Het
Lamb2 T C 9: 108,487,323 F1121L probably damaging Het
Lingo1 T C 9: 56,620,627 D232G probably benign Het
Lpxn T A 19: 12,811,258 N70K probably benign Het
Ltbp4 T A 7: 27,305,427 H1657L probably damaging Het
Luzp2 C A 7: 55,265,330 F334L possibly damaging Het
Mgat5b A T 11: 116,944,959 S142C possibly damaging Het
Mroh7 G A 4: 106,711,320 T396I probably benign Het
Muc5b T C 7: 141,863,750 S3478P probably benign Het
Nfatc2 A T 2: 168,507,349 M626K probably benign Het
Nlrp14 A G 7: 107,183,048 D484G possibly damaging Het
Npc1 T C 18: 12,211,544 Y423C probably damaging Het
Nrsn1 A G 13: 25,253,405 I180T probably damaging Het
Olfr741 A T 14: 50,485,568 I37F probably benign Het
Osbpl6 A T 2: 76,595,881 I935F probably benign Het
Otog T C 7: 46,298,265 F96L probably damaging Het
Pde1b T C 15: 103,528,318 L534P possibly damaging Het
Pdzd8 C T 19: 59,299,693 E1092K probably damaging Het
Pfkl T C 10: 78,001,415 H108R probably benign Het
Pkhd1l1 G A 15: 44,557,976 V3047I probably benign Het
Plag1 A T 4: 3,904,812 C126* probably null Het
Pphln1 T A 15: 93,455,525 S229T probably benign Het
Pramel5 C T 4: 144,273,881 D42N possibly damaging Het
Psd3 A G 8: 67,713,738 V915A probably benign Het
Ptdss1 T A 13: 66,945,327 I77N probably benign Het
Rsbn1 T A 3: 103,914,576 C3* probably null Het
Shank1 C T 7: 44,327,161 A561V unknown Het
Stip1 C T 19: 7,021,810 G467S possibly damaging Het
Sv2c A T 13: 95,976,644 V599E probably damaging Het
Vmn2r37 T C 7: 9,217,899 T322A probably benign Het
Vmn2r60 T A 7: 42,137,063 M430K probably benign Het
Wipf3 T A 6: 54,481,919 probably null Het
Other mutations in Olfr570
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Olfr570 APN 7 102901265 missense possibly damaging 0.96
IGL02307:Olfr570 APN 7 102900879 missense probably benign 0.00
IGL02705:Olfr570 APN 7 102901242 missense probably damaging 1.00
IGL03028:Olfr570 APN 7 102900829 missense possibly damaging 0.81
IGL03086:Olfr570 APN 7 102900406 missense probably damaging 1.00
PIT4434001:Olfr570 UTSW 7 102900630 missense probably benign 0.12
R1155:Olfr570 UTSW 7 102900612 missense probably benign 0.00
R6603:Olfr570 UTSW 7 102900414 missense probably benign 0.01
R7329:Olfr570 UTSW 7 102900832 missense probably damaging 0.97
R7471:Olfr570 UTSW 7 102900553 missense probably benign 0.10
R8020:Olfr570 UTSW 7 102901265 missense possibly damaging 0.96
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-15