Incidental Mutation 'R1147:Or52w1'
ID 165163
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 039220-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R1147 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 105017535-105018524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105018484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 308 (R308Q)
Ref Sequence ENSEMBL: ENSMUSP00000095755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098152] [ENSMUST00000179474] [ENSMUST00000217827]
AlphaFold Q8VF03
Predicted Effect probably benign
Transcript: ENSMUST00000098152
AA Change: R308Q

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000095755
Gene: ENSMUSG00000073906
AA Change: R308Q

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 noncoding transcript
Transcript: ENSMUST00000211019
AA Change: R317Q
Predicted Effect probably benign
Transcript: ENSMUST00000217827
AA Change: R317Q

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.0847 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency 98% (47/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T C 8: 41,248,655 (GRCm39) I255T possibly damaging Het
Aknad1 T A 3: 108,659,857 (GRCm39) N290K possibly damaging Het
Ano8 C A 8: 71,934,661 (GRCm39) V447F probably damaging Het
Arhgef12 C T 9: 42,955,552 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l A T 3: 88,892,194 (GRCm39) M1358L possibly damaging Het
Ccdc110 A G 8: 46,397,121 (GRCm39) K837E possibly damaging Het
Cd19 T A 7: 126,010,217 (GRCm39) D384V possibly damaging Het
Ces1f C T 8: 93,984,909 (GRCm39) V473I possibly damaging Het
Chd6 C T 2: 160,832,191 (GRCm39) E994K probably damaging Het
Col5a2 G T 1: 45,415,931 (GRCm39) N1405K probably damaging Het
Dnah7b A G 1: 46,379,426 (GRCm39) D3720G probably damaging Het
Dsel T C 1: 111,789,939 (GRCm39) T199A possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Flacc1 A T 1: 58,708,622 (GRCm39) Y215N probably damaging Het
Hrg G T 16: 22,779,754 (GRCm39) C344F probably damaging Het
Htt T C 5: 35,008,596 (GRCm39) Y1462H probably damaging Het
Kcnh2 T A 5: 24,529,385 (GRCm39) I784F probably damaging Het
Kifc3 T C 8: 95,864,546 (GRCm39) T55A probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lsamp G A 16: 41,994,499 (GRCm39) probably benign Het
Meis3 G A 7: 15,917,701 (GRCm39) probably benign Het
Nlrp4d A T 7: 10,122,644 (GRCm39) N73K probably benign Het
Oog3 A G 4: 143,884,982 (GRCm39) F318S possibly damaging Het
Or2a20 A T 6: 43,194,146 (GRCm39) T100S probably damaging Het
Pde5a C T 3: 122,587,962 (GRCm39) T376M probably damaging Het
Pkhd1l1 A G 15: 44,400,837 (GRCm39) I2204V probably null Het
Ppp1r13l A G 7: 19,109,772 (GRCm39) D731G probably damaging Het
Prob1 G A 18: 35,787,859 (GRCm39) Q132* probably null Het
Ptk6 C T 2: 180,837,590 (GRCm39) G443D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,730,504 (GRCm39) D749G probably damaging Het
Ralgapa1 A T 12: 55,749,265 (GRCm39) D1212E probably damaging Het
Rsad1 T C 11: 94,434,966 (GRCm39) Y290C probably damaging Het
Scamp1 A G 13: 94,361,394 (GRCm39) probably null Het
Slc6a11 T A 6: 114,221,831 (GRCm39) I507N possibly damaging Het
Stx18 T G 5: 38,284,267 (GRCm39) probably benign Het
Sybu A T 15: 44,609,651 (GRCm39) F78I probably damaging Het
Tecpr2 T G 12: 110,907,872 (GRCm39) probably benign Het
Tox A T 4: 6,823,055 (GRCm39) N87K possibly damaging Het
Trrap G A 5: 144,741,576 (GRCm39) G1308R probably damaging Het
Trub2 A G 2: 29,677,644 (GRCm39) probably benign Het
Vmn2r114 A T 17: 23,530,037 (GRCm39) H123Q probably benign Het
Vmn2r15 T A 5: 109,441,072 (GRCm39) Y262F probably damaging Het
Vmn2r33 C T 7: 7,557,144 (GRCm39) E519K probably benign Het
Zfat A T 15: 68,084,432 (GRCm39) probably benign Het
Zfp106 A T 2: 120,351,017 (GRCm39) C1545S probably 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
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
R8516:Or52w1 UTSW 7 105,017,976 (GRCm39) missense probably benign 0.00
R9054:Or52w1 UTSW 7 105,017,680 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCAGTACTTCGGCTACCTACCC -3'
(R):5'- GTAATGTGCAGCCCCTGCTTTTG -3'

Sequencing Primer
(F):5'- TTCGGCTACCTACCCAGGAG -3'
(R):5'- GCCTCCTTTCCAGTAAGAGATAAG -3'
Posted On 2014-03-28