Incidental Mutation 'IGL03137:Or5d18'
ID 410590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5d18
Ensembl Gene ENSMUSG00000075140
Gene Name olfactory receptor family 5 subfamily D member 18
Synonyms MOR174-9, GA_x6K02T2Q125-49527073-49526132, mOR-EG, Olfr73
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # IGL03137
Quality Score
Status
Chromosome 2
Chromosomal Location 87864540-87865481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87864754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 243 (A243V)
Ref Sequence ENSEMBL: ENSMUSP00000149472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099838] [ENSMUST00000129056]
AlphaFold Q920P2
Predicted Effect probably benign
Transcript: ENSMUST00000099838
AA Change: A243V

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097426
Gene: ENSMUSG00000075140
AA Change: A243V

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 6e-48 PFAM
Pfam:7tm_1 42 291 6.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129056
AA Change: A243V

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankub1 T C 3: 57,597,778 (GRCm39) D64G probably damaging Het
Apobec2 C T 17: 48,730,303 (GRCm39) W121* probably null Het
Arid2 A G 15: 96,269,199 (GRCm39) N1104S probably benign Het
Bltp1 T A 3: 37,088,751 (GRCm39) M569K probably damaging Het
Brap T C 5: 121,803,156 (GRCm39) probably benign Het
Cilp A C 9: 65,185,450 (GRCm39) N515T probably benign Het
Cpeb2 T A 5: 43,419,067 (GRCm39) probably benign Het
Creb1 C T 1: 64,615,374 (GRCm39) T242I possibly damaging Het
Ddx60 T C 8: 62,441,117 (GRCm39) V1062A possibly damaging Het
Dock8 A G 19: 25,133,312 (GRCm39) E1153G probably benign Het
Gk5 A G 9: 96,058,345 (GRCm39) probably benign Het
Gm5478 G T 15: 101,552,817 (GRCm39) N60K probably benign Het
Hmcn2 T A 2: 31,252,242 (GRCm39) V904D probably damaging Het
Hnmt T A 2: 23,938,751 (GRCm39) H29L probably damaging Het
Hsf1 A G 15: 76,380,649 (GRCm39) probably benign Het
Igkv1-122 C A 6: 67,994,400 (GRCm39) T96K probably damaging Het
Iyd T C 10: 3,501,987 (GRCm39) I211T probably damaging Het
Kcnn1 G T 8: 71,303,381 (GRCm39) H34N probably damaging Het
Krtap5-3 G T 7: 141,755,946 (GRCm39) probably benign Het
Map3k19 C T 1: 127,752,052 (GRCm39) R433K probably benign Het
Mss51 A C 14: 20,537,200 (GRCm39) C89W probably damaging Het
Myh9 A T 15: 77,675,289 (GRCm39) I276N probably damaging Het
Myof T C 19: 37,963,337 (GRCm39) E420G probably damaging Het
Nfatc2ip C A 7: 125,989,740 (GRCm39) V215L possibly damaging Het
Or10ag52 A T 2: 87,043,500 (GRCm39) Y88F probably benign Het
Or51m1 T C 7: 103,578,801 (GRCm39) M257T probably benign Het
Pcdhb4 T C 18: 37,441,569 (GRCm39) I293T probably damaging Het
Pdcd6ip A G 9: 113,486,213 (GRCm39) S729P possibly damaging Het
Pick1 C A 15: 79,129,501 (GRCm39) H169N possibly damaging Het
Ppp4r4 A C 12: 103,547,643 (GRCm39) K212T probably damaging Het
Racgap1 A G 15: 99,526,622 (GRCm39) S314P probably damaging Het
Rasef C A 4: 73,652,720 (GRCm39) E594* probably null Het
Ryr3 T G 2: 112,740,742 (GRCm39) K522Q probably benign Het
Shoc1 G T 4: 59,094,162 (GRCm39) F187L probably benign Het
Six5 T C 7: 18,831,072 (GRCm39) probably benign Het
Slc26a9 G T 1: 131,691,615 (GRCm39) E619D probably benign Het
Sqor A G 2: 122,649,991 (GRCm39) I412V probably benign Het
Srrt T A 5: 137,294,379 (GRCm39) probably benign Het
Sult1e1 C T 5: 87,726,475 (GRCm39) R213K probably benign Het
Tmc2 T A 2: 130,082,050 (GRCm39) L411H probably damaging Het
Tmem63b T A 17: 45,975,921 (GRCm39) N511Y probably damaging Het
Ucp3 T A 7: 100,131,969 (GRCm39) probably benign Het
Vmn1r201 A T 13: 22,658,974 (GRCm39) I63F probably benign Het
Vps13c G T 9: 67,797,662 (GRCm39) L522F probably damaging Het
Wwp1 T A 4: 19,678,408 (GRCm39) T3S probably damaging Het
Zc3hav1 A G 6: 38,309,329 (GRCm39) S498P probably benign Het
Other mutations in Or5d18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03377:Or5d18 APN 2 87,864,589 (GRCm39) missense probably damaging 1.00
PIT4260001:Or5d18 UTSW 2 87,865,126 (GRCm39) missense probably damaging 1.00
R0013:Or5d18 UTSW 2 87,864,610 (GRCm39) missense possibly damaging 0.78
R0969:Or5d18 UTSW 2 87,864,592 (GRCm39) missense probably damaging 0.99
R1216:Or5d18 UTSW 2 87,864,602 (GRCm39) missense probably damaging 0.99
R2148:Or5d18 UTSW 2 87,864,943 (GRCm39) missense probably damaging 0.99
R2355:Or5d18 UTSW 2 87,865,379 (GRCm39) missense probably damaging 0.97
R2357:Or5d18 UTSW 2 87,865,028 (GRCm39) missense probably damaging 1.00
R2994:Or5d18 UTSW 2 87,865,301 (GRCm39) missense probably damaging 1.00
R3806:Or5d18 UTSW 2 87,864,911 (GRCm39) missense possibly damaging 0.60
R4618:Or5d18 UTSW 2 87,864,898 (GRCm39) missense probably benign 0.19
R4975:Or5d18 UTSW 2 87,865,005 (GRCm39) missense probably benign 0.09
R5753:Or5d18 UTSW 2 87,864,920 (GRCm39) missense probably damaging 1.00
R6795:Or5d18 UTSW 2 87,864,668 (GRCm39) missense probably benign 0.02
R8982:Or5d18 UTSW 2 87,864,613 (GRCm39) missense probably damaging 1.00
R9151:Or5d18 UTSW 2 87,864,697 (GRCm39) missense probably damaging 0.99
Z1190:Or5d18 UTSW 2 87,865,007 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02