Incidental Mutation 'R9763:Olfr518'
ID 735809
Institutional Source Beutler Lab
Gene Symbol Olfr518
Ensembl Gene ENSMUSG00000046431
Gene Name olfactory receptor 518
Synonyms MOR268-5, GA_x6K02T2PBJ9-11211854-11210853
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R9763 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 108880188-108885006 bp(-) (GRCm38)
Type of Mutation start gained
DNA Base Change (assembly) T to A at 108881667 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059617] [ENSMUST00000217803]
AlphaFold Q8VEW1
Predicted Effect probably benign
Transcript: ENSMUST00000059617
SMART Domains Protein: ENSMUSP00000050503
Gene: ENSMUSG00000046431

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:7tm_4 50 327 7.1e-60 PFAM
Pfam:7tm_1 60 318 1.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217803
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,263,558 D2167E possibly damaging Het
Acadsb T A 7: 131,443,598 Y420N probably benign Het
Adcy1 T A 11: 7,064,126 L176Q probably damaging Het
Amdhd1 T A 10: 93,531,536 K252M possibly damaging Het
Aspa C A 11: 73,322,268 E83* probably null Het
Atat1 A G 17: 35,910,007 L10P probably damaging Het
Ccdc141 T A 2: 77,039,575 N862I probably damaging Het
Cdkal1 A T 13: 29,625,709 C217* probably null Het
Cttnbp2 C T 6: 18,435,241 S206N probably benign Het
Dner A T 1: 84,383,935 I651N possibly damaging Het
Epha8 G T 4: 136,938,586 L420M probably damaging Het
Ercc6l2 T C 13: 63,834,624 V91A probably damaging Het
Fam198a A G 9: 121,976,355 D404G probably damaging Het
Gm11639 G A 11: 104,999,659 G4189E possibly damaging Het
Gm13941 A G 2: 111,101,173 L38S unknown Het
Golph3l G A 3: 95,609,774 E198K possibly damaging Het
Hecw2 A C 1: 53,923,915 D812E probably damaging Het
Ikzf2 T A 1: 69,548,676 E212V possibly damaging Het
Il6st C T 13: 112,490,517 S281F probably damaging Het
Kmt2d CTGTTG CTG 15: 98,845,176 probably benign Het
Krt71 T G 15: 101,738,322 K317T probably damaging Het
Lgi4 T C 7: 31,060,595 F72S probably damaging Het
Map3k1 C T 13: 111,775,965 R174H probably damaging Het
Marveld3 T A 8: 109,961,743 H122L probably benign Het
Mrgprb2 A G 7: 48,552,426 S184P probably benign Het
Mylk G T 16: 34,879,112 G282* probably null Het
Myo16 T A 8: 10,400,528 M510K unknown Het
Naip5 C G 13: 100,230,761 A276P probably damaging Het
Olfr1016 T G 2: 85,799,716 N185H possibly damaging Het
Olfr1045 A T 2: 86,197,837 M305K probably benign Het
Olfr1507 T G 14: 52,490,850 Y38S probably damaging Het
Olfr411 T C 11: 74,347,215 Y3C probably damaging Het
Olfr519 T G 7: 108,894,003 I140L probably benign Het
Pdzrn4 T C 15: 92,770,495 Y843H probably damaging Het
Prkca A G 11: 108,013,041 V242A possibly damaging Het
Rbbp8 A T 18: 11,732,204 M717L probably benign Het
Rnf150 T C 8: 83,006,339 S272P probably benign Het
Rtraf A G 14: 19,816,246 V134A probably damaging Het
Rubcnl T A 14: 75,049,668 L592* probably null Het
Slc23a1 A G 18: 35,622,311 S484P probably damaging Het
Slmap A G 14: 26,482,963 Y68H probably damaging Het
Speer4b C A 5: 27,500,208 V56L probably damaging Het
Sycp2l T A 13: 41,152,756 S84T Het
Syne1 T C 10: 5,057,858 D122G probably benign Het
Timd2 G T 11: 46,682,713 P155T probably benign Het
Topbp1 G A 9: 103,346,724 R1401Q probably benign Het
Trim36 C A 18: 46,176,058 D312Y probably benign Het
Vps13c A G 9: 67,911,578 T1094A probably benign Het
Vwa8 T A 14: 78,949,548 Y465N probably damaging Het
Zfpm1 T C 8: 122,335,792 L530P probably damaging Het
Zmynd10 A T 9: 107,548,766 T100S probably benign Het
Other mutations in Olfr518
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02713:Olfr518 APN 7 108880853 missense probably damaging 0.99
IGL02995:Olfr518 APN 7 108880991 missense probably damaging 1.00
IGL03162:Olfr518 APN 7 108881604 start codon destroyed probably null
IGL03389:Olfr518 APN 7 108880775 missense probably damaging 0.99
R0731:Olfr518 UTSW 7 108881533 missense probably damaging 1.00
R1669:Olfr518 UTSW 7 108880713 missense probably benign 0.00
R2235:Olfr518 UTSW 7 108880965 missense probably benign 0.09
R4740:Olfr518 UTSW 7 108881482 missense probably benign 0.05
R4902:Olfr518 UTSW 7 108881417 missense probably benign 0.00
R5343:Olfr518 UTSW 7 108880998 missense possibly damaging 0.87
R6744:Olfr518 UTSW 7 108880830 missense probably damaging 0.99
R7157:Olfr518 UTSW 7 108881268 missense probably benign 0.03
R7326:Olfr518 UTSW 7 108880816 missense probably damaging 1.00
R7713:Olfr518 UTSW 7 108880682 missense probably damaging 1.00
R7819:Olfr518 UTSW 7 108881403 missense probably damaging 0.99
R7939:Olfr518 UTSW 7 108881274 missense probably benign 0.05
R8057:Olfr518 UTSW 7 108881364 missense probably damaging 1.00
R8096:Olfr518 UTSW 7 108881041 nonsense probably null
R8472:Olfr518 UTSW 7 108880766 missense possibly damaging 0.95
R8766:Olfr518 UTSW 7 108881246 missense probably benign 0.05
R9283:Olfr518 UTSW 7 108881082 missense probably benign 0.03
R9570:Olfr518 UTSW 7 108881297 missense possibly damaging 0.95
X0066:Olfr518 UTSW 7 108881472 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCCCAGGAGGATGAATTCG -3'
(R):5'- CAAGTTTGGACAGAGATATGAAACC -3'

Sequencing Primer
(F):5'- TGAATTCGGCCACAGAGCTG -3'
(R):5'- TTGAAAAACACCCACTTTGTTCC -3'
Posted On 2022-11-14