Incidental Mutation 'R8516:Or52w1'
ID 656151
Institutional Source Beutler Lab
Gene Symbol Or52w1
Ensembl Gene ENSMUSG00000073906
Gene Name olfactory receptor family 52 subfamily W member 1
Synonyms MOR36-1, GA_x6K02T2PBJ9-7994144-7995106, Olfr692
MMRRC Submission 067848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R8516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 105017535-105018524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105017976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 148 (I148V)
Ref Sequence ENSEMBL: ENSMUSP00000151295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098152] [ENSMUST00000179474] [ENSMUST00000217827]
AlphaFold Q8VF03
Predicted Effect probably benign
Transcript: ENSMUST00000098152
AA Change: I139V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095755
Gene: ENSMUSG00000073906
AA Change: I139V

DomainStartEndE-ValueType
Pfam:7tm_4 45 325 1.3e-90 PFAM
Pfam:7TM_GPCR_Srsx 49 233 1.3e-7 PFAM
Pfam:7tm_1 55 307 3.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179474
SMART Domains Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 4.2e-98 PFAM
low complexity region 496 515 N/A INTRINSIC
low complexity region 541 558 N/A INTRINSIC
low complexity region 711 724 N/A INTRINSIC
low complexity region 732 744 N/A INTRINSIC
low complexity region 905 920 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217827
AA Change: I148V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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
Aasdhppt A T 9: 4,309,373 (GRCm39) S22T probably benign Het
Acte1 T A 7: 143,451,011 (GRCm39) I342N probably damaging Het
Actr8 G T 14: 29,712,856 (GRCm39) A500S probably benign Het
Adamtsl1 A G 4: 86,260,780 (GRCm39) Y1005C probably damaging Het
Ank3 T A 10: 69,763,559 (GRCm39) Y884* probably null Het
Arhgap28 T C 17: 68,180,068 (GRCm39) R306G probably benign Het
Atp8a2 A C 14: 59,928,921 (GRCm39) I1044M probably benign Het
Bahd1 A G 2: 118,747,452 (GRCm39) Y357C probably benign Het
Btd A T 14: 31,388,824 (GRCm39) T182S probably damaging Het
Casc3 C T 11: 98,713,607 (GRCm39) R280C probably damaging Het
Cisd2 T C 3: 135,116,774 (GRCm39) T106A probably damaging Het
Cldn15 G T 5: 137,003,550 (GRCm39) C184F probably damaging Het
Clk4 G A 11: 51,166,088 (GRCm39) R198Q probably damaging Het
Coprs G T 8: 13,935,065 (GRCm39) F163L probably damaging Het
Csmd3 G A 15: 47,492,761 (GRCm39) R2216* probably null Het
Defb7 A T 8: 19,547,623 (GRCm39) I43F possibly damaging Het
Dpp8 C A 9: 64,985,291 (GRCm39) T783K probably damaging Het
Eif2s1 G A 12: 78,927,936 (GRCm39) G204D probably damaging Het
Elavl4 T C 4: 110,108,576 (GRCm39) N56S probably damaging Het
Emilin1 G A 5: 31,074,515 (GRCm39) R252H probably damaging Het
Exd1 A T 2: 119,350,554 (GRCm39) L569Q probably damaging Het
Gpn2 C T 4: 133,312,142 (GRCm39) R125C probably damaging Het
Gria2 T C 3: 80,614,294 (GRCm39) E582G probably benign Het
Hadha A T 5: 30,331,582 (GRCm39) V458E probably damaging Het
Hap1 T C 11: 100,246,893 (GRCm39) K4R possibly damaging Het
Hectd4 A T 5: 121,487,073 (GRCm39) H3356L possibly damaging Het
Herc2 G A 7: 55,856,318 (GRCm39) V3919I probably benign Het
Lgr6 G T 1: 135,003,021 (GRCm39) N76K probably damaging Het
P4ha3 A G 7: 99,963,869 (GRCm39) M462V probably damaging Het
Pde3b A T 7: 114,126,084 (GRCm39) M773L probably benign Het
Peak1 T C 9: 56,167,284 (GRCm39) S215G probably damaging Het
Pgm5 T A 19: 24,793,074 (GRCm39) M331L probably benign Het
Piwil2 A G 14: 70,658,188 (GRCm39) V213A probably benign Het
Plch2 T C 4: 155,070,764 (GRCm39) H1205R probably benign Het
Pop4 A T 7: 37,966,826 (GRCm39) M85K probably benign Het
Ppp3ca T A 3: 136,583,529 (GRCm39) I212N probably damaging Het
Prom1 T C 5: 44,164,441 (GRCm39) K714R probably benign Het
Psip1 C T 4: 83,384,952 (GRCm39) G207S probably benign Het
Rgs22 A G 15: 36,010,481 (GRCm39) *1259Q probably null Het
Scn1a C T 2: 66,156,478 (GRCm39) G477D possibly damaging Het
Sf3b1 T C 1: 55,051,262 (GRCm39) E222G probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spem2 T C 11: 69,707,721 (GRCm39) R415G possibly damaging Het
Tmem167 T A 13: 90,246,515 (GRCm39) V13E probably damaging Het
Trim2 C T 3: 84,115,627 (GRCm39) A102T probably damaging Het
Trim30b A G 7: 104,006,611 (GRCm39) S82P probably benign Het
Uba6 A C 5: 86,275,607 (GRCm39) S760R possibly damaging Het
Upf2 T C 2: 6,023,782 (GRCm39) F711L unknown Het
Utrn T A 10: 12,362,254 (GRCm39) D2693V probably damaging Het
Vmn1r30 T G 6: 58,412,109 (GRCm39) Y241S probably damaging Het
Vmn2r110 A G 17: 20,794,875 (GRCm39) L598P probably damaging Het
Wfdc18 T A 11: 83,599,984 (GRCm39) F14Y probably benign Het
Wnt10b A T 15: 98,670,761 (GRCm39) C256S probably damaging Het
Xrn1 T A 9: 95,930,444 (GRCm39) Y1554* probably null Het
Zc3h12a T A 4: 125,013,632 (GRCm39) S411C probably damaging Het
Zfp112 G A 7: 23,823,389 (GRCm39) G63E probably benign Het
Zfp786 A T 6: 47,797,477 (GRCm39) L487Q probably damaging Het
Zfp953 T A 13: 67,493,419 (GRCm39) Y75F possibly damaging Het
Other mutations in Or52w1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Or52w1 APN 7 105,018,454 (GRCm39) missense probably damaging 1.00
IGL01772:Or52w1 APN 7 105,017,641 (GRCm39) missense probably benign 0.03
IGL02508:Or52w1 APN 7 105,017,743 (GRCm39) missense possibly damaging 0.95
IGL03103:Or52w1 APN 7 105,017,785 (GRCm39) missense probably damaging 1.00
R1147:Or52w1 UTSW 7 105,018,484 (GRCm39) missense probably benign 0.14
R1147:Or52w1 UTSW 7 105,018,484 (GRCm39) missense probably benign 0.14
R5237:Or52w1 UTSW 7 105,018,513 (GRCm39) nonsense probably null
R5294:Or52w1 UTSW 7 105,017,620 (GRCm39) missense probably benign 0.41
R5955:Or52w1 UTSW 7 105,017,776 (GRCm39) missense probably damaging 1.00
R6321:Or52w1 UTSW 7 105,018,109 (GRCm39) missense probably damaging 1.00
R7171:Or52w1 UTSW 7 105,017,968 (GRCm39) missense probably benign 0.02
R7284:Or52w1 UTSW 7 105,017,752 (GRCm39) missense probably damaging 0.98
R8376:Or52w1 UTSW 7 105,017,847 (GRCm39) missense probably benign 0.33
R9054:Or52w1 UTSW 7 105,017,680 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTAGCCACATCTATAGCCC -3'
(R):5'- AGCCAGTGAAAGTGCTAGCC -3'

Sequencing Primer
(F):5'- ACATCTATAGCCCCAGAGTTGCTG -3'
(R):5'- AGTGCTAGCCCATACATGTTG -3'
Posted On 2020-10-20