Incidental Mutation 'PIT4260001:Or5d18'
ID 554488
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # PIT4260001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 87864540-87865481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87865126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 119 (M119K)
Ref Sequence ENSEMBL: ENSMUSP00000149472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099838] [ENSMUST00000129056]
AlphaFold Q920P2
Predicted Effect probably damaging
Transcript: ENSMUST00000099838
AA Change: M119K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097426
Gene: ENSMUSG00000075140
AA Change: M119K

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 6e-48 PFAM
Pfam:7tm_1 42 291 6.1e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129056
AA Change: M119K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.5%
  • 10x: 84.8%
  • 20x: 72.5%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 A T 18: 38,129,948 (GRCm39) L71Q probably benign Het
Atp10a A T 7: 58,440,866 (GRCm39) K504* probably null Het
AW551984 T C 9: 39,504,275 (GRCm39) T564A probably benign Het
Cep128 A G 12: 91,265,808 (GRCm39) V268A probably benign Het
Clgn T C 8: 84,149,753 (GRCm39) M418T probably damaging Het
Col12a1 A G 9: 79,558,662 (GRCm39) probably null Het
Col4a3 A T 1: 82,660,482 (GRCm39) E933D unknown Het
Csmd1 A T 8: 16,120,327 (GRCm39) L1826Q probably damaging Het
Enpp2 C T 15: 54,707,774 (GRCm39) probably null Het
Ep400 G A 5: 110,841,037 (GRCm39) R1832* probably null Het
Exoc5 T C 14: 49,286,222 (GRCm39) K135R probably benign Het
Fam83h A G 15: 75,873,746 (GRCm39) F1197S probably damaging Het
Gabrg1 T C 5: 70,939,623 (GRCm39) I170V probably benign Het
Gigyf2 C T 1: 87,346,828 (GRCm39) R610C unknown Het
Gm16440 T C 14: 17,575,339 (GRCm39) E119G probably benign Het
Gm17669 A G 18: 67,695,508 (GRCm39) R18G probably damaging Het
Gxylt1 A G 15: 93,159,708 (GRCm39) S100P probably damaging Het
H3c10 C A 13: 21,902,089 (GRCm39) S87R possibly damaging Het
Hacd4 C G 4: 88,316,342 (GRCm39) R259T unknown Het
Hacd4 T A 4: 88,316,343 (GRCm39) R259* probably null Het
Hivep3 T C 4: 119,956,379 (GRCm39) L1565P probably damaging Het
Iqsec1 T A 6: 90,667,471 (GRCm39) D218V probably damaging Het
Matn2 C T 15: 34,428,877 (GRCm39) T747I possibly damaging Het
Myl6b T A 10: 128,332,175 (GRCm39) Q97L possibly damaging Het
Pcdh1 A G 18: 38,336,419 (GRCm39) V72A probably damaging Het
Pira2 T C 7: 3,845,173 (GRCm39) T362A probably benign Het
Pira2 C T 7: 3,845,169 (GRCm39) S363N probably benign Het
Pira2 G C 7: 3,845,172 (GRCm39) T362S probably benign Het
Pkhd1 A G 1: 20,293,130 (GRCm39) V2830A possibly damaging Het
Plpp1 A G 13: 112,993,419 (GRCm39) D118G probably damaging Het
Polr2a A G 11: 69,626,793 (GRCm39) S1514P possibly damaging Het
Pou3f2 G T 4: 22,487,291 (GRCm39) Q281K possibly damaging Het
Prl7a2 A T 13: 27,843,259 (GRCm39) Y181* probably null Het
Prpf4b T A 13: 35,068,274 (GRCm39) S368T probably benign Het
Prss45 A G 9: 110,667,513 (GRCm39) D53G probably benign Het
Ryr2 T A 13: 11,609,641 (GRCm39) H4395L possibly damaging Het
Spp2 G T 1: 88,338,927 (GRCm39) A97S probably benign Het
Strn4 T C 7: 16,556,434 (GRCm39) F99S probably damaging Het
Tcaf2 T A 6: 42,619,739 (GRCm39) H96L probably damaging Het
Tenm2 T C 11: 36,054,557 (GRCm39) D601G probably damaging Het
Trpm6 A T 19: 18,803,166 (GRCm39) M870L possibly damaging Het
Ttn T C 2: 76,773,569 (GRCm39) T2351A unknown Het
Xirp2 T A 2: 67,341,941 (GRCm39) I1394K possibly damaging Het
Zfc3h1 G T 10: 115,226,794 (GRCm39) D284Y probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGTGTCAGAGCGTGAAAGTG -3'
(R):5'- TCACTGTGGTAGGAAATATTGGC -3'

Sequencing Primer
(F):5'- TGTCAGAGCGTGAAAGTGAAAGG -3'
(R):5'- GGTAGGAAATATTGGCATGATTGTC -3'
Posted On 2019-06-07