Incidental Mutation 'R6516:Or5w18'
ID 520662
Institutional Source Beutler Lab
Gene Symbol Or5w18
Ensembl Gene ENSMUSG00000068815
Gene Name olfactory receptor family 5 subfamily W member 18
Synonyms MOR177-14, Olfr1143, GA_x6K02T2Q125-49303473-49304405
MMRRC Submission 044643-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R6516 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87632735-87633679 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87633114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 127 (Y127F)
Ref Sequence ENSEMBL: ENSMUSP00000088210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090708] [ENSMUST00000099852] [ENSMUST00000111568]
AlphaFold Q8VEU8
Predicted Effect possibly damaging
Transcript: ENSMUST00000090708
AA Change: Y127F

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088210
Gene: ENSMUSG00000068815
AA Change: Y127F

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 2.6e-45 PFAM
Pfam:7tm_1 45 294 5.8e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099852
AA Change: Y123F

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097438
Gene: ENSMUSG00000068815
AA Change: Y123F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2e-41 PFAM
Pfam:7tm_1 41 290 4.3e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111568
AA Change: Y123F

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107194
Gene: ENSMUSG00000068815
AA Change: Y123F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.5e-44 PFAM
Pfam:7tm_1 41 290 2.8e-16 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (63/63)
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
4930558K02Rik A T 1: 161,780,235 (GRCm39) V93E probably benign Het
Adam18 A G 8: 25,164,703 (GRCm39) L4P probably damaging Het
Adcy8 A T 15: 64,571,236 (GRCm39) Y1136N probably damaging Het
Adgrl3 A G 5: 81,613,119 (GRCm39) Y184C probably damaging Het
Ankrd6 G A 4: 32,836,427 (GRCm39) R43W probably damaging Het
Ano8 G T 8: 71,934,424 (GRCm39) probably null Het
Arhgap31 A G 16: 38,429,766 (GRCm39) F370L possibly damaging Het
C7 A G 15: 5,086,563 (GRCm39) V26A probably damaging Het
Cimap1a G A 7: 140,428,718 (GRCm39) G128S probably damaging Het
Clec4a2 C A 6: 123,116,365 (GRCm39) Q153K probably damaging Het
Cyp2c67 T A 19: 39,605,873 (GRCm39) D341V probably damaging Het
Ddo T A 10: 40,507,741 (GRCm39) V46E probably damaging Het
Deup1 A C 9: 15,521,910 (GRCm39) M85R probably damaging Het
Dmxl2 A T 9: 54,323,960 (GRCm39) S1141R probably damaging Het
Dnah2 A G 11: 69,356,212 (GRCm39) F2147L probably benign Het
Dock10 T C 1: 80,518,178 (GRCm39) E1298G probably damaging Het
Dock4 T A 12: 40,781,898 (GRCm39) V701E possibly damaging Het
Dthd1 A T 5: 62,996,607 (GRCm39) K447N probably benign Het
Eno2 G T 6: 124,738,672 (GRCm39) probably null Het
Fastkd5 T A 2: 130,456,221 (GRCm39) T790S possibly damaging Het
Fer1l4 C T 2: 155,877,119 (GRCm39) V1139M probably damaging Het
Gpbp1 A T 13: 111,589,636 (GRCm39) H111Q probably benign Het
Grk3 A T 5: 113,109,415 (GRCm39) probably benign Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kcnc2 A G 10: 112,297,905 (GRCm39) T610A probably benign Het
Kcnh1 T A 1: 192,101,089 (GRCm39) D560E possibly damaging Het
Klc4 A T 17: 46,953,181 (GRCm39) N116K probably damaging Het
Krba1 C T 6: 48,390,206 (GRCm39) Q656* probably null Het
Mchr1 A G 15: 81,122,069 (GRCm39) Y273C probably damaging Het
Myh15 T A 16: 48,957,996 (GRCm39) C938S probably benign Het
Nutm1 T C 2: 112,081,562 (GRCm39) E367G probably damaging Het
Or10a3n A T 7: 108,492,972 (GRCm39) I214K probably damaging Het
Or4e2 A T 14: 52,688,586 (GRCm39) T239S probably damaging Het
Or8b48 A G 9: 38,492,768 (GRCm39) N65S probably damaging Het
Pikfyve G T 1: 65,304,940 (GRCm39) M1697I probably benign Het
Plcd1 A G 9: 118,905,271 (GRCm39) S147P probably damaging Het
Plin3 G A 17: 56,593,223 (GRCm39) P113L probably damaging Het
Pum3 C A 19: 27,403,408 (GRCm39) S31I probably benign Het
Robo1 T C 16: 72,821,241 (GRCm39) V1327A probably benign Het
Rpl15-ps6 A G 15: 52,341,200 (GRCm39) noncoding transcript Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Scnn1b T C 7: 121,511,335 (GRCm39) S341P probably damaging Het
Sh3bp5 A T 14: 31,097,629 (GRCm39) M362K possibly damaging Het
Slc24a5 A G 2: 124,930,027 (GRCm39) T443A probably benign Het
Slc25a12 T C 2: 71,154,427 (GRCm39) Y81C probably damaging Het
Slc43a3 A G 2: 84,788,105 (GRCm39) T496A probably benign Het
Smap2 C T 4: 120,840,303 (GRCm39) probably null Het
Sptbn5 T A 2: 119,878,431 (GRCm39) probably benign Het
Taar5 A G 10: 23,847,564 (GRCm39) S321G possibly damaging Het
Tbx21 T C 11: 96,990,782 (GRCm39) I299V possibly damaging Het
Tcerg1 T C 18: 42,663,957 (GRCm39) probably null Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Tmem176a T G 6: 48,821,002 (GRCm39) probably null Het
Tmem236 T C 2: 14,200,791 (GRCm39) S119P probably benign Het
Tmprss11a C T 5: 86,567,987 (GRCm39) V247M probably damaging Het
Tnks1bp1 T C 2: 84,901,071 (GRCm39) S1593P probably damaging Het
Ttc9b T A 7: 27,355,412 (GRCm39) D227E probably benign Het
Usp33 A C 3: 152,079,053 (GRCm39) Q435P probably benign Het
Vti1a C T 19: 55,369,390 (GRCm39) A94V probably damaging Het
Wdr3 A G 3: 100,052,992 (GRCm39) Y587H probably damaging Het
Wwc1 G A 11: 35,758,129 (GRCm39) A739V probably benign Het
Zfp628 C G 7: 4,923,201 (GRCm39) Y474* probably null Het
Zfp820 A T 17: 22,038,354 (GRCm39) C325S probably damaging Het
Other mutations in Or5w18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Or5w18 APN 2 87,633,544 (GRCm39) nonsense probably null
IGL01670:Or5w18 APN 2 87,633,224 (GRCm39) missense probably benign 0.10
IGL02503:Or5w18 APN 2 87,632,864 (GRCm39) missense probably benign 0.01
R0316:Or5w18 UTSW 2 87,633,525 (GRCm39) missense probably damaging 0.98
R1381:Or5w18 UTSW 2 87,633,480 (GRCm39) missense probably damaging 1.00
R1496:Or5w18 UTSW 2 87,633,212 (GRCm39) missense probably benign 0.00
R1753:Or5w18 UTSW 2 87,633,106 (GRCm39) missense probably benign 0.06
R2013:Or5w18 UTSW 2 87,632,847 (GRCm39) missense probably damaging 0.97
R2370:Or5w18 UTSW 2 87,633,159 (GRCm39) missense probably benign 0.35
R3810:Or5w18 UTSW 2 87,633,396 (GRCm39) missense possibly damaging 0.90
R3812:Or5w18 UTSW 2 87,633,396 (GRCm39) missense possibly damaging 0.90
R3909:Or5w18 UTSW 2 87,633,031 (GRCm39) missense probably benign
R4227:Or5w18 UTSW 2 87,633,219 (GRCm39) missense probably damaging 0.97
R5753:Or5w18 UTSW 2 87,633,596 (GRCm39) missense probably benign 0.05
R9101:Or5w18 UTSW 2 87,632,924 (GRCm39) missense probably damaging 1.00
R9144:Or5w18 UTSW 2 87,633,482 (GRCm39) missense probably benign 0.02
Z1177:Or5w18 UTSW 2 87,633,572 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGATCCTCAGCTACAAACCC -3'
(R):5'- TGTGTATCTGAGCAGGACAGTAG -3'

Sequencing Primer
(F):5'- AGCTACAAACCCCAATGTACTTTTTC -3'
(R):5'- TATCTGAGCAGGACAGTAGTAAGATG -3'
Posted On 2018-06-06