Incidental Mutation 'R6451:Or5w20'
ID 516331
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 044587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R6451 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87726521-87727477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87726935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 131 (Y131H)
Ref Sequence ENSEMBL: ENSMUSP00000150945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052300] [ENSMUST00000215017] [ENSMUST00000215862] [ENSMUST00000217436]
AlphaFold A2AVC0
Predicted Effect probably damaging
Transcript: ENSMUST00000052300
AA Change: Y139H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057839
Gene: ENSMUSG00000048197
AA Change: Y139H

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 damaging
Transcript: ENSMUST00000217436
AA Change: Y131H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2389 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,842,733 (GRCm39) V1164E probably damaging Het
Acnat2 A G 4: 49,380,262 (GRCm39) V372A probably benign Het
Adam17 A T 12: 21,392,883 (GRCm39) D313E probably benign Het
Adgrf5 A T 17: 43,735,709 (GRCm39) R200* probably null Het
Akr1d1 G A 6: 37,527,150 (GRCm39) E129K probably benign Het
Arhgap29 T A 3: 121,787,230 (GRCm39) V382E probably damaging Het
Arhgef40 G A 14: 52,238,456 (GRCm39) V1312I probably damaging Het
Bbs9 A G 9: 22,479,060 (GRCm39) S168G probably damaging Het
Carmil1 T A 13: 24,276,541 (GRCm39) K202* probably null Het
Cnep1r1 A G 8: 88,846,438 (GRCm39) E19G probably damaging Het
Dnah1 T A 14: 31,022,765 (GRCm39) Q1124L probably benign Het
Dph1 G T 11: 75,072,143 (GRCm39) A242D probably damaging Het
Efcab7 T A 4: 99,719,738 (GRCm39) Y73* probably null Het
Esp18 G T 17: 39,720,853 (GRCm39) E33* probably null Het
Fbln2 T A 6: 91,211,241 (GRCm39) I395K probably benign Het
Grin3a C T 4: 49,844,969 (GRCm39) C38Y probably damaging Het
Hivep3 T A 4: 119,956,105 (GRCm39) S1474T probably benign Het
Hmcn1 C T 1: 150,868,670 (GRCm39) V45M probably damaging Het
Intu T A 3: 40,655,723 (GRCm39) F937I possibly damaging Het
Llgl2 G A 11: 115,735,767 (GRCm39) G121D probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nsmce4a G T 7: 130,144,479 (GRCm39) Het
Or6c69c A T 10: 129,911,007 (GRCm39) M243L probably benign Het
Phactr1 T A 13: 43,286,469 (GRCm39) V590E probably damaging Het
Pigo G A 4: 43,021,412 (GRCm39) S510L probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rnf19a A G 15: 36,253,205 (GRCm39) I378T possibly damaging Het
Rnf216 G T 5: 142,978,589 (GRCm39) P793T possibly damaging Het
Samd8 T C 14: 21,833,866 (GRCm39) probably null Het
Son T A 16: 91,454,490 (GRCm39) M1079K probably damaging Het
Spata7 T A 12: 98,624,596 (GRCm39) M166K probably benign Het
Spta1 G A 1: 174,044,767 (GRCm39) E1468K probably damaging Het
Taar3 A T 10: 23,825,705 (GRCm39) I84F possibly damaging Het
Tas2r107 T A 6: 131,636,977 (GRCm39) D24V possibly damaging Het
Tmc2 A G 2: 130,106,123 (GRCm39) R885G probably damaging Het
Tox3 C A 8: 90,984,687 (GRCm39) R164L probably benign Het
Ttc5 A G 14: 51,004,664 (GRCm39) I380T probably damaging Het
Vmn1r179 A G 7: 23,628,076 (GRCm39) N89S possibly damaging Het
Zfp944 T C 17: 22,557,846 (GRCm39) E467G probably benign Het
Zzef1 A T 11: 72,813,982 (GRCm39) D2857V 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
R1579:Or5w20 UTSW 2 87,727,286 (GRCm39) missense probably benign 0.05
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
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'- GCAGTTGGACCCAAGATGTTG -3'
(R):5'- GATGGTGCTCAGCTCAATAAACC -3'

Sequencing Primer
(F):5'- TGGTGGGCCTTATATTCAAGAAC -3'
(R):5'- CATTGACCTCTGTATCTGAACAAG -3'
Posted On 2018-05-21