Incidental Mutation 'R5343:Olfr518'
ID 422445
Institutional Source Beutler Lab
Gene Symbol Olfr518
Ensembl Gene ENSMUSG00000046431
Gene Name olfactory receptor 518
Synonyms MOR268-5, GA_x6K02T2PBJ9-11211854-11210853
MMRRC Submission 042922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5343 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 108880188-108885006 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108880998 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 203 (V203M)
Ref Sequence ENSEMBL: ENSMUSP00000151883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059617] [ENSMUST00000217803]
AlphaFold Q8VEW1
Predicted Effect possibly damaging
Transcript: ENSMUST00000059617
AA Change: V203M

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050503
Gene: ENSMUSG00000046431
AA Change: V203M

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 possibly damaging
Transcript: ENSMUST00000217803
AA Change: V203M

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik C A 17: 46,773,036 A75E probably damaging Het
5730559C18Rik G T 1: 136,225,442 H237Q probably benign Het
Adck5 G A 15: 76,595,580 R560H probably damaging Het
Ahctf1 A T 1: 179,770,634 Y964* probably null Het
Alg8 T C 7: 97,386,919 I339T possibly damaging Het
Alox5 T C 6: 116,413,507 D503G possibly damaging Het
Camk4 A G 18: 33,078,069 T76A probably damaging Het
Cdh3 T C 8: 106,552,936 V728A probably benign Het
Chd4 T A 6: 125,120,363 N1326K probably damaging Het
Cnn1 A T 9: 22,105,410 Y48F probably benign Het
Dnah6 T A 6: 73,212,616 E16D probably benign Het
Ezh2 A G 6: 47,576,615 L56S probably damaging Het
F13b T C 1: 139,510,544 V299A possibly damaging Het
Hydin T C 8: 110,485,419 S1279P probably benign Het
Ift172 T C 5: 31,263,812 M981V probably benign Het
Lpl T A 8: 68,895,737 V206E probably damaging Het
Mre11a A G 9: 14,811,834 D368G probably damaging Het
Mreg G A 1: 72,160,958 P191L probably damaging Het
Mtif2 G T 11: 29,536,964 A134S probably damaging Het
Mxd4 T C 5: 34,177,730 S114G probably benign Het
Myo1b T C 1: 51,778,537 Q522R probably benign Het
Ncapd3 GGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTG 9: 27,088,053 probably benign Het
Ninl T C 2: 150,971,190 E182G probably benign Het
Notch3 T C 17: 32,143,283 N1456S probably benign Het
Npr1 G T 3: 90,458,208 N648K possibly damaging Het
Oas3 A G 5: 120,756,238 S1016P possibly damaging Het
Olfr1499 T C 19: 13,814,960 N210S probably damaging Het
Palld A G 8: 61,549,815 probably benign Het
Patj T G 4: 98,676,193 I1021S probably damaging Het
Pfpl T A 19: 12,428,688 L101Q probably damaging Het
Pilrb2 T A 5: 137,870,966 E124V possibly damaging Het
Pomk A G 8: 25,983,016 F303S probably benign Het
Rap1gap2 A T 11: 74,441,785 S65T probably damaging Het
Sema3a G A 5: 13,473,406 C114Y probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,153,384 probably benign Het
Spry4 A T 18: 38,589,975 V245E probably damaging Het
Srrt T C 5: 137,297,165 Y271C probably damaging Het
Tas2r136 A G 6: 132,778,080 V28A probably benign Het
Tenm2 A G 11: 36,069,503 V998A probably benign Het
Trim37 A G 11: 87,137,603 E46G probably damaging Het
Ubiad1 A G 4: 148,436,435 V244A possibly damaging 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
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
R9763:Olfr518 UTSW 7 108881667 start gained probably benign
X0066:Olfr518 UTSW 7 108881472 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGTGCCATAGAAGAGGGTG -3'
(R):5'- CGATTTGCTGCAATCTGCC -3'

Sequencing Primer
(F):5'- TGAGATGAGAGGCACACGTAG -3'
(R):5'- GCTGCAATCTGCCATCCTCTG -3'
Posted On 2016-08-04