Incidental Mutation 'R1579:Or5w20'
ID 171262
Institutional Source Beutler Lab
Gene Symbol Or5w20
Ensembl Gene ENSMUSG00000048197
Gene Name olfactory receptor family 5 subfamily W member 20
Synonyms Olfr1153, MOR177-7, GA_x6K02T2Q125-49395950-49396882
MMRRC Submission 039616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R1579 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 87726521-87727477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87727286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 248 (A248T)
Ref Sequence ENSEMBL: ENSMUSP00000150945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052300] [ENSMUST00000215017] [ENSMUST00000215862] [ENSMUST00000217436]
AlphaFold A2AVC0
Predicted Effect probably benign
Transcript: ENSMUST00000052300
AA Change: A256T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000057839
Gene: ENSMUSG00000048197
AA Change: A256T

DomainStartEndE-ValueType
Pfam:7tm_4 38 315 4.9e-45 PFAM
Pfam:7tm_1 48 297 5.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215017
Predicted Effect probably benign
Transcript: ENSMUST00000215862
Predicted Effect probably benign
Transcript: ENSMUST00000217436
AA Change: A248T

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T C 16: 3,724,039 (GRCm39) R162G probably benign Het
Adamtsl4 T A 3: 95,592,807 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,711,898 (GRCm39) L306H probably damaging Het
Aknad1 T A 3: 108,659,452 (GRCm39) Y155* probably null Het
Aldh6a1 C T 12: 84,488,622 (GRCm39) R88H possibly damaging Het
Apc2 G C 10: 80,147,179 (GRCm39) K715N probably damaging Het
Arhgap45 G A 10: 79,864,811 (GRCm39) V798M probably damaging Het
Calcrl T C 2: 84,163,881 (GRCm39) T437A probably benign Het
Cdan1 A G 2: 120,561,220 (GRCm39) F183L probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntnap4 A G 8: 113,608,462 (GRCm39) E1294G possibly damaging Het
Crybg3 C A 16: 59,350,561 (GRCm39) G2607V probably damaging Het
Dhx29 G T 13: 113,072,132 (GRCm39) probably null Het
Dmrtb1 T A 4: 107,541,322 (GRCm39) H13L probably damaging Het
Echdc2 A G 4: 108,031,006 (GRCm39) M162V probably benign Het
Entpd8 A G 2: 24,974,986 (GRCm39) D439G possibly damaging Het
Fastkd2 C G 1: 63,785,046 (GRCm39) H477Q probably null Het
Fbrs A G 7: 127,084,529 (GRCm39) E517G probably damaging Het
Gchfr A G 2: 119,002,502 (GRCm39) T71A possibly damaging Het
Hecw1 A T 13: 14,552,492 (GRCm39) C35S probably damaging Het
Izumo1r C T 9: 14,813,098 (GRCm39) R58H probably benign Het
Kif13a T C 13: 46,906,332 (GRCm39) E537G possibly damaging Het
Kif13b G A 14: 65,019,790 (GRCm39) probably null Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lnpk A T 2: 74,378,340 (GRCm39) D140E probably damaging Het
Ltbp1 A G 17: 75,559,362 (GRCm39) M284V probably benign Het
Me3 A T 7: 89,495,050 (GRCm39) T323S possibly damaging Het
Mtus1 A G 8: 41,535,895 (GRCm39) V607A probably damaging Het
Myh14 A T 7: 44,305,118 (GRCm39) probably null Het
Myo1h T A 5: 114,485,496 (GRCm39) C545* probably null Het
Nbn T A 4: 15,964,289 (GRCm39) D121E probably damaging Het
Nox4 A G 7: 87,019,231 (GRCm39) Y408C probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or10q1b A G 19: 13,682,566 (GRCm39) D125G probably damaging Het
Or52d3 T A 7: 104,229,268 (GRCm39) Y138* probably null Het
Osbpl5 T C 7: 143,262,939 (GRCm39) T150A possibly damaging Het
Pgap3 C A 11: 98,280,879 (GRCm39) M265I probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkd2l2 A T 18: 34,560,446 (GRCm39) N351I possibly damaging Het
Prkdc T A 16: 15,493,192 (GRCm39) Y700N probably benign Het
Pzp A G 6: 128,500,931 (GRCm39) probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rptor A T 11: 119,786,827 (GRCm39) Q1264L probably benign Het
Scnn1a T C 6: 125,299,103 (GRCm39) F61S probably damaging Het
Tenm2 C A 11: 35,997,610 (GRCm39) W825C probably damaging Het
Tex264 A T 9: 106,559,116 (GRCm39) I70N possibly damaging Het
Tns2 G T 15: 102,019,645 (GRCm39) D504Y probably damaging Het
Trappc14 T C 5: 138,260,128 (GRCm39) I338V probably benign Het
Trpc2 T A 7: 101,733,447 (GRCm39) F132Y probably damaging Het
Trpm4 A G 7: 44,958,021 (GRCm39) F816S probably damaging Het
Uqcc1 G A 2: 155,763,641 (GRCm39) Q5* probably null Het
Usp36 G T 11: 118,175,771 (GRCm39) T130N probably damaging Het
Vav1 A G 17: 57,604,252 (GRCm39) M165V probably benign Het
Vmn1r64 A T 7: 5,886,803 (GRCm39) F247I probably damaging Het
Vmn2r26 G C 6: 124,016,706 (GRCm39) R390P probably benign Het
Vmn2r57 G T 7: 41,049,548 (GRCm39) H734N probably benign Het
Wfdc16 G T 2: 164,477,843 (GRCm39) H69N possibly damaging Het
Zfp316 C T 5: 143,239,317 (GRCm39) E901K probably damaging Het
Zfp334 T C 2: 165,223,719 (GRCm39) E108G probably damaging Het
Zfp407 T C 18: 84,227,763 (GRCm39) S1949G probably benign Het
Zfp408 A G 2: 91,476,473 (GRCm39) L227P probably benign Het
Zfp560 T C 9: 20,259,287 (GRCm39) H525R possibly damaging Het
Zfp609 G A 9: 65,611,754 (GRCm39) A403V possibly damaging Het
Other mutations in Or5w20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01075:Or5w20 APN 2 87,727,265 (GRCm39) missense probably benign 0.00
IGL02024:Or5w20 APN 2 87,727,243 (GRCm39) missense possibly damaging 0.81
IGL02219:Or5w20 APN 2 87,727,317 (GRCm39) missense possibly damaging 0.93
IGL02693:Or5w20 APN 2 87,726,877 (GRCm39) missense probably damaging 1.00
R0121:Or5w20 UTSW 2 87,727,434 (GRCm39) missense possibly damaging 0.93
R0315:Or5w20 UTSW 2 87,727,410 (GRCm39) missense probably damaging 1.00
R0446:Or5w20 UTSW 2 87,727,199 (GRCm39) missense possibly damaging 0.51
R0472:Or5w20 UTSW 2 87,726,837 (GRCm39) missense possibly damaging 0.47
R0720:Or5w20 UTSW 2 87,727,013 (GRCm39) missense probably benign 0.31
R1968:Or5w20 UTSW 2 87,727,383 (GRCm39) missense probably damaging 1.00
R3909:Or5w20 UTSW 2 87,727,293 (GRCm39) splice site probably null
R4936:Or5w20 UTSW 2 87,727,157 (GRCm39) missense probably benign 0.06
R5520:Or5w20 UTSW 2 87,726,753 (GRCm39) unclassified probably benign
R5585:Or5w20 UTSW 2 87,727,019 (GRCm39) missense possibly damaging 0.54
R6176:Or5w20 UTSW 2 87,727,280 (GRCm39) missense probably benign 0.18
R6272:Or5w20 UTSW 2 87,727,001 (GRCm39) missense probably benign 0.00
R6451:Or5w20 UTSW 2 87,726,935 (GRCm39) missense probably damaging 1.00
R7312:Or5w20 UTSW 2 87,726,755 (GRCm39) missense possibly damaging 0.54
R7350:Or5w20 UTSW 2 87,726,753 (GRCm39) unclassified probably benign
R8060:Or5w20 UTSW 2 87,727,317 (GRCm39) missense probably damaging 1.00
R8752:Or5w20 UTSW 2 87,726,591 (GRCm39) missense possibly damaging 0.66
R9474:Or5w20 UTSW 2 87,726,693 (GRCm39) missense probably benign 0.00
R9710:Or5w20 UTSW 2 87,726,902 (GRCm39) missense probably damaging 1.00
Z1088:Or5w20 UTSW 2 87,726,977 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GGTTGGAATGGTAGATGCTTTGACACA -3'
(R):5'- CTTTTCTTGGGTGCATAGTTGCAAACA -3'

Sequencing Primer
(F):5'- GGTAGATGCTTTGACACATACAACG -3'
(R):5'- GCAGCGACTAAAGTATGCATTAC -3'
Posted On 2014-04-13