Incidental Mutation 'IGL03162:Olfr518'
ID411462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr518
Ensembl Gene ENSMUSG00000046431
Gene Nameolfactory receptor 518
SynonymsMOR268-5, GA_x6K02T2PBJ9-11211854-11210853
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL03162
Quality Score
Status
Chromosome7
Chromosomal Location108880188-108885006 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to C at 108881604 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000151883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059617] [ENSMUST00000217803]
Predicted Effect probably null
Transcript: ENSMUST00000059617
AA Change: M1V
SMART Domains Protein: ENSMUSP00000050503
Gene: ENSMUSG00000046431
AA Change: M1V

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 null
Transcript: ENSMUST00000217803
AA Change: M1V
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,919,732 D92V probably damaging Het
Acsl3 T C 1: 78,699,170 probably null Het
Adam5 T C 8: 24,781,604 T596A probably benign Het
Adh6a T A 3: 138,329,119 Y336* probably null Het
Ak3 A T 19: 29,022,836 V225D possibly damaging Het
Aldh1a7 T A 19: 20,708,281 I302F probably benign Het
Amdhd1 T C 10: 93,531,475 probably null Het
Arhgef18 G A 8: 3,441,301 probably null Het
Caap1 A T 4: 94,501,024 probably benign Het
Cdhr4 G A 9: 107,998,011 G70D probably damaging Het
Celsr3 T C 9: 108,842,558 F2445S probably damaging Het
Cenpc1 A G 5: 86,037,905 V249A possibly damaging Het
Clca3a2 C A 3: 144,806,416 V80F probably damaging Het
Col6a1 T A 10: 76,718,051 probably benign Het
Commd10 T A 18: 47,087,050 L198Q probably damaging Het
Cyp2d40 A G 15: 82,760,042 L294P unknown Het
E2f6 T A 12: 16,818,908 D77E probably benign Het
Elf5 T A 2: 103,430,406 H38Q possibly damaging Het
Fam160b2 G T 14: 70,587,554 D447E probably damaging Het
Fam189a2 T G 19: 23,988,460 H225P probably damaging Het
Fcrl6 A G 1: 172,598,253 V227A probably damaging Het
Gabarapl2 T A 8: 111,942,536 V42D probably benign Het
Gm3543 A G 14: 41,980,065 I154T possibly damaging Het
Gpr150 T A 13: 76,056,831 probably benign Het
Gstp3 A G 19: 4,059,255 probably benign Het
Gzmm C T 10: 79,692,956 T64I probably damaging Het
Hs3st1 T A 5: 39,614,449 K284* probably null Het
Ints7 A G 1: 191,621,412 probably benign Het
Itih2 A T 2: 10,126,244 I94N probably damaging Het
Kif26b A G 1: 178,916,932 N1531S probably benign Het
Kif27 T C 13: 58,311,207 S937G probably benign Het
Klhl2 A G 8: 64,754,392 V311A probably damaging Het
Klrb1b T A 6: 128,818,929 Q109L probably null Het
Lrig2 A G 3: 104,464,297 F697L probably damaging Het
Lrrc66 T C 5: 73,607,382 R773G probably benign Het
Mettl11b T A 1: 163,703,214 I219L probably damaging Het
Mrgpra2b C T 7: 47,464,067 V306I probably benign Het
Nipbl T C 15: 8,338,979 H1127R probably benign Het
Nr3c2 A T 8: 77,217,584 D816V probably damaging Het
Olfr1152 A C 2: 87,868,140 M50L probably benign Het
Pdxdc1 A G 16: 13,857,417 L350P probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla7 T C 2: 25,015,289 probably benign Het
Ppan T G 9: 20,891,312 L283R probably damaging Het
Rbfox3 A C 11: 118,496,431 S286A probably benign Het
Rbl2 A G 8: 91,085,702 T273A probably benign Het
Recql4 G T 15: 76,706,096 probably null Het
Slc22a26 T A 19: 7,802,101 M117L probably benign Het
Sult2a2 T A 7: 13,734,897 I96K probably damaging Het
Tcf15 G A 2: 152,148,706 R175H probably benign Het
Uggt1 A T 1: 36,207,956 V320D probably damaging Het
Vmn2r102 A G 17: 19,694,024 N617S probably damaging Het
Vpreb3 A G 10: 75,949,299 Y77C probably damaging Het
Zbbx A T 3: 75,071,623 probably benign Het
Zfand6 A T 7: 84,633,977 S57R probably benign Het
Zmym2 A G 14: 56,914,043 I462V 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
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
R8057:Olfr518 UTSW 7 108881364 missense probably damaging 1.00
R8096:Olfr518 UTSW 7 108881041 nonsense probably null
X0066:Olfr518 UTSW 7 108881472 missense probably benign 0.00
Posted On2016-08-02