Incidental Mutation 'R4618:Or5d18'
ID 345069
Institutional Source Beutler Lab
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
MMRRC Submission 041884-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R4618 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 87864540-87865481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87864898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 195 (V195A)
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: V195A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097426
Gene: ENSMUSG00000075140
AA Change: V195A

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: V195A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (89/91)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A T 3: 121,473,095 (GRCm39) K83N unknown Het
Adamtsl3 T A 7: 82,255,728 (GRCm39) M1580K probably benign Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Akap3 G T 6: 126,843,406 (GRCm39) C675F probably benign Het
Asap1 A T 15: 64,024,744 (GRCm39) H318Q probably damaging Het
Atf7ip G T 6: 136,542,104 (GRCm39) A18S probably damaging Het
Bcl2a1a A C 9: 88,839,357 (GRCm39) N85T probably damaging Het
Btnl6 G A 17: 34,733,120 (GRCm39) P248S probably damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Ccdc14 T A 16: 34,526,865 (GRCm39) C257S probably benign Het
Cd5l A G 3: 87,275,926 (GRCm39) T299A probably benign Het
Cstdc3 T A 16: 36,132,952 (GRCm39) D76E possibly damaging Het
Endou C T 15: 97,611,763 (GRCm39) V292M possibly damaging Het
Fbxo36 T C 1: 84,877,749 (GRCm39) I137T probably damaging Het
Fcer1a T C 1: 173,050,208 (GRCm39) I161V possibly damaging Het
Fsip2 A G 2: 82,818,103 (GRCm39) Y4612C probably benign Het
Gcnt2 T A 13: 41,111,670 (GRCm39) L353* probably null Het
Ghrhr T C 6: 55,358,739 (GRCm39) F172S probably damaging Het
Gins1 T A 2: 150,759,781 (GRCm39) probably null Het
Gm16519 T G 17: 71,236,237 (GRCm39) L62R probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Greb1l A G 18: 10,498,965 (GRCm39) T283A probably benign Het
Grin2c T A 11: 115,143,573 (GRCm39) D729V probably damaging Het
Heatr4 T G 12: 84,024,841 (GRCm39) T327P probably damaging Het
Hes2 A C 4: 152,244,845 (GRCm39) S105R probably benign Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itih1 A T 14: 30,651,788 (GRCm39) D851E probably benign Het
Klhdc7b A G 15: 89,271,472 (GRCm39) T785A probably benign Het
Lmbr1 G T 5: 29,551,863 (GRCm39) A74E probably damaging Het
Lonp1 A C 17: 56,929,511 (GRCm39) H175Q probably benign Het
Maml2 T C 9: 13,531,371 (GRCm39) F195S probably damaging Het
Man2b2 G T 5: 36,974,983 (GRCm39) T436K probably benign Het
Man2c1 T C 9: 57,049,439 (GRCm39) probably null Het
Mrps15 G A 4: 125,940,837 (GRCm39) probably benign Het
Mtrf1l C A 10: 5,767,586 (GRCm39) V177F probably benign Het
Naxd A T 8: 11,559,489 (GRCm39) I213F probably damaging Het
Nbeal1 T A 1: 60,267,890 (GRCm39) probably benign Het
Nfatc1 T C 18: 80,741,047 (GRCm39) I318V probably damaging Het
Nid2 T A 14: 19,858,078 (GRCm39) I1297N probably damaging Het
Nol10 T C 12: 17,398,562 (GRCm39) V3A probably damaging Het
Nop14 G T 5: 34,796,562 (GRCm39) P765Q probably damaging Het
Noxa1 C T 2: 24,981,761 (GRCm39) G114D probably damaging Het
Ntmt2 A T 1: 163,552,597 (GRCm39) F10I probably damaging Het
Opa1 T C 16: 29,405,857 (GRCm39) W141R probably damaging Het
Or10a2 G A 7: 106,673,761 (GRCm39) C242Y probably damaging Het
Or13p4 A T 4: 118,546,667 (GRCm39) probably benign Het
Or8h10 A G 2: 86,808,618 (GRCm39) I174T possibly damaging Het
Pde4d A T 13: 110,070,411 (GRCm39) M7L probably benign Het
Phykpl G A 11: 51,483,056 (GRCm39) A188T probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pkhd1l1 T A 15: 44,403,078 (GRCm39) V2260D probably damaging Het
Ptprt T C 2: 161,395,765 (GRCm39) E1136G probably damaging Het
Rad21 A T 15: 51,833,420 (GRCm39) L353Q probably damaging Het
Rfx4 G T 10: 84,716,760 (GRCm39) A425S probably benign Het
Rnf38 A G 4: 44,142,450 (GRCm39) S169P probably damaging Het
Samd9l C A 6: 3,376,347 (GRCm39) V305F probably damaging Het
Serpini1 A G 3: 75,523,883 (GRCm39) K164E probably benign Het
Sirt6 A G 10: 81,462,408 (GRCm39) L37P probably damaging Het
Sorbs1 T C 19: 40,361,962 (GRCm39) T141A probably damaging Het
Tacc2 A T 7: 130,227,946 (GRCm39) T1563S probably benign Het
Tbc1d14 A C 5: 36,687,725 (GRCm39) probably benign Het
Tbrg4 G A 11: 6,570,185 (GRCm39) probably benign Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Tpp1 A T 7: 105,400,913 (GRCm39) L38Q probably benign Het
Trhr A G 15: 44,061,037 (GRCm39) N186D probably benign Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Tsen54 T A 11: 115,706,247 (GRCm39) probably benign Het
Tsg101 A G 7: 46,542,257 (GRCm39) I138T possibly damaging Het
Usp22 A G 11: 61,052,269 (GRCm39) S237P probably damaging Het
Vmn1r209 A G 13: 22,990,619 (GRCm39) S24P possibly damaging Het
Vmn2r18 A T 5: 151,508,424 (GRCm39) H233Q possibly damaging Het
Vmn2r45 A T 7: 8,486,436 (GRCm39) I284N probably benign Het
Vmn2r66 T C 7: 84,644,296 (GRCm39) I705V possibly damaging Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zdhhc11 T A 13: 74,127,349 (GRCm39) M242K probably benign Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R probably benign Het
Other mutations in Or5d18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03137:Or5d18 APN 2 87,864,754 (GRCm39) missense probably benign 0.44
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
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
Predicted Primers PCR Primer
(F):5'- GAGTTCTTGGAGTTAGGTACACAG -3'
(R):5'- TCTACACAGTGGCCATGTCC -3'

Sequencing Primer
(F):5'- CTTGGAGTTAGGTACACAGTATAGG -3'
(R):5'- ATGTCCCAGAGGCTCTGTG -3'
Posted On 2015-09-25