Incidental Mutation 'R6321:Or52w1'
ID 510345
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 044418-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R6321 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 105017535-105018524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105018109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 192 (Y192C)
Ref Sequence ENSEMBL: ENSMUSP00000151295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098152] [ENSMUST00000179474] [ENSMUST00000217827]
AlphaFold Q8VF03
Predicted Effect probably damaging
Transcript: ENSMUST00000098152
AA Change: Y183C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095755
Gene: ENSMUSG00000073906
AA Change: Y183C

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 damaging
Transcript: ENSMUST00000217827
AA Change: Y192C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8847 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G T 13: 111,391,915 (GRCm39) M83I probably damaging Het
Adgra2 T A 8: 27,604,190 (GRCm39) M460K probably benign Het
Aldh16a1 G A 7: 44,799,189 (GRCm39) A31V probably damaging Het
Ank2 T C 3: 126,740,587 (GRCm39) probably benign Het
Arrdc4 C A 7: 68,398,793 (GRCm39) D8Y probably benign Het
Auts2 A G 5: 131,494,953 (GRCm39) Y110H probably damaging Het
Blnk A T 19: 40,922,903 (GRCm39) Y405N probably damaging Het
Capsl T C 15: 9,461,855 (GRCm39) F84L probably damaging Het
Cdcp3 T C 7: 130,858,735 (GRCm39) probably null Het
Cenpl T C 1: 160,902,465 (GRCm39) S46P probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Chrnd C T 1: 87,119,951 (GRCm39) R90C probably damaging Het
Cyfip2 A T 11: 46,182,347 (GRCm39) M37K probably benign Het
Dnah11 T C 12: 118,106,027 (GRCm39) E625G possibly damaging Het
Dnah5 T G 15: 28,372,557 (GRCm39) V2936G probably damaging Het
Dock9 A G 14: 121,783,433 (GRCm39) M2055T probably damaging Het
Epb41l2 A T 10: 25,344,026 (GRCm39) R274S probably damaging Het
Erich3 A T 3: 154,433,139 (GRCm39) H371L probably damaging Het
Evi5l C A 8: 4,253,080 (GRCm39) P454T probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Golgb1 T A 16: 36,738,559 (GRCm39) C2299* probably null Het
Heca G C 10: 17,790,991 (GRCm39) probably null Het
Hecw1 C T 13: 14,697,414 (GRCm39) A9T probably benign Het
Hs3st6 T A 17: 24,977,542 (GRCm39) W341R probably damaging Het
Kidins220 C T 12: 25,107,533 (GRCm39) S1571L probably benign Het
Klk1b9 A G 7: 43,443,732 (GRCm39) E82G probably damaging Het
Ltbp3 C A 19: 5,795,685 (GRCm39) H180Q probably benign Het
Mecom A G 3: 30,034,741 (GRCm39) Y502H probably damaging Het
Mfsd2a A G 4: 122,843,165 (GRCm39) V372A probably benign Het
Mrgprd A G 7: 144,875,879 (GRCm39) D250G probably benign Het
Muc2 A G 7: 141,287,397 (GRCm39) D191G probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or4f59 A G 2: 111,873,113 (GRCm39) V88A probably benign Het
Pnpla6 T C 8: 3,594,015 (GRCm39) V1342A probably benign Het
Ppp1r9a A G 6: 5,115,151 (GRCm39) E789G probably damaging Het
Prkdc A G 16: 15,532,783 (GRCm39) T1471A probably benign Het
Scarb1 T A 5: 125,381,395 (GRCm39) S50C probably damaging Het
Slc4a8 C T 15: 100,687,045 (GRCm39) T283M probably damaging Het
Smc2 C A 4: 52,462,814 (GRCm39) D601E probably benign Het
Snx6 C A 12: 54,798,798 (GRCm39) V221F probably damaging Het
Spag17 A C 3: 99,995,743 (GRCm39) K1794T probably benign Het
Tpo A G 12: 30,153,107 (GRCm39) W416R probably damaging Het
Ttc13 C A 8: 125,409,930 (GRCm39) K427N probably damaging Het
Upf3a A T 8: 13,837,466 (GRCm39) N137I possibly damaging Het
Ush2a C T 1: 188,581,243 (GRCm39) Q3708* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zfp451 A G 1: 33,852,816 (GRCm39) F33L probably damaging Het
Zfp454 A G 11: 50,763,876 (GRCm39) F408L probably damaging Het
Zfp639 T C 3: 32,571,237 (GRCm39) Y40H 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
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
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'- CTGACTGCTATGGAATCTGGTG -3'
(R):5'- GTACCAAAGGCCTTTACTCGG -3'

Sequencing Primer
(F):5'- CATGGCCTGTGATCGGG -3'
(R):5'- TTTACTCGGGCCTCCTGGG -3'
Posted On 2018-04-02