Incidental Mutation 'IGL02173:Or7d9'
ID 282973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or7d9
Ensembl Gene ENSMUSG00000059623
Gene Name olfactory receptor family 7 subfamily D member 9
Synonyms Olfr39, MOR144-1, GA_x6K02T2PVTD-14025733-14026668
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02173
Quality Score
Status
Chromosome 9
Chromosomal Location 20193647-20197944 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20197691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 240 (V240A)
Ref Sequence ENSEMBL: ENSMUSP00000071641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071725] [ENSMUST00000212983]
AlphaFold E9PVX1
Predicted Effect probably benign
Transcript: ENSMUST00000071725
AA Change: V240A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000071641
Gene: ENSMUSG00000059623
AA Change: V240A

DomainStartEndE-ValueType
Pfam:7tm_4 39 315 1.3e-51 PFAM
Pfam:7TM_GPCR_Srsx 43 307 1e-6 PFAM
Pfam:7tm_1 49 298 3.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212983
AA Change: V232A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,061,754 (GRCm39) H68L possibly damaging Het
4930533K18Rik A G 10: 70,708,060 (GRCm39) noncoding transcript Het
4933409G03Rik A G 2: 68,443,401 (GRCm39) T182A unknown Het
Abca2 T A 2: 25,331,909 (GRCm39) D1340E probably benign Het
Abcc12 G A 8: 87,293,071 (GRCm39) A39V probably damaging Het
Acap2 T C 16: 30,926,965 (GRCm39) R510G possibly damaging Het
Ace G T 11: 105,879,817 (GRCm39) R719L probably benign Het
Adarb1 A C 10: 77,157,659 (GRCm39) F263V probably damaging Het
Ahcyl T C 16: 45,974,441 (GRCm39) N312S probably benign Het
Ambra1 T C 2: 91,748,013 (GRCm39) S1130P probably benign Het
Aqp7 A T 4: 41,034,379 (GRCm39) L260* probably null Het
Cntn5 G T 9: 9,748,401 (GRCm39) S493R probably damaging Het
Crhr2 A G 6: 55,080,165 (GRCm39) F138S probably damaging Het
D2hgdh T A 1: 93,757,611 (GRCm39) D175E probably benign Het
Dtx4 G T 19: 12,450,621 (GRCm39) Y530* probably null Het
Elp4 T A 2: 105,533,088 (GRCm39) H419L probably damaging Het
Etv6 A G 6: 134,225,690 (GRCm39) D218G possibly damaging Het
Exoc5 A G 14: 49,272,258 (GRCm39) probably benign Het
Fyb1 C T 15: 6,610,176 (GRCm39) P250S probably benign Het
Gaa A G 11: 119,165,739 (GRCm39) Y84C probably damaging Het
Galns A T 8: 123,325,365 (GRCm39) S262R probably damaging Het
Gfus A G 15: 75,798,034 (GRCm39) S233P probably damaging Het
Kctd16 T C 18: 40,663,906 (GRCm39) I345T probably benign Het
Lats2 A G 14: 57,934,717 (GRCm39) V671A probably damaging Het
Maml3 C A 3: 51,598,208 (GRCm39) L179F probably damaging Het
Myo1f T C 17: 33,826,318 (GRCm39) L1089P probably damaging Het
Nadsyn1 A T 7: 143,357,743 (GRCm39) probably benign Het
Or1e34 A G 11: 73,778,949 (GRCm39) M83T possibly damaging Het
Or51k1 G A 7: 103,661,037 (GRCm39) P291S probably damaging Het
Or9i1 A G 19: 13,839,378 (GRCm39) T74A probably benign Het
Otog T C 7: 45,926,165 (GRCm39) probably benign Het
Pcbd1 A G 10: 60,927,983 (GRCm39) probably benign Het
Pced1a A G 2: 130,264,248 (GRCm39) V164A possibly damaging Het
Pgd A G 4: 149,241,210 (GRCm39) I233T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sec24d A T 3: 123,147,330 (GRCm39) H733L probably damaging Het
Slc1a2 T A 2: 102,574,206 (GRCm39) N205K probably benign Het
Sstr2 G T 11: 113,515,842 (GRCm39) V254L probably damaging Het
Tm9sf2 G T 14: 122,380,835 (GRCm39) V308F probably benign Het
Tor3a T C 1: 156,501,776 (GRCm39) K34E probably benign Het
Ubr4 T A 4: 139,164,381 (GRCm39) probably null Het
Vmn1r56 A G 7: 5,199,117 (GRCm39) S167P probably damaging Het
Zswim3 T A 2: 164,662,759 (GRCm39) I413N probably damaging Het
Other mutations in Or7d9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02219:Or7d9 APN 9 20,197,756 (GRCm39) missense probably benign 0.45
IGL02468:Or7d9 APN 9 20,197,574 (GRCm39) missense probably damaging 1.00
IGL03024:Or7d9 APN 9 20,197,280 (GRCm39) missense probably benign 0.00
R0329:Or7d9 UTSW 9 20,197,153 (GRCm39) missense possibly damaging 0.95
R1656:Or7d9 UTSW 9 20,197,873 (GRCm39) missense probably damaging 1.00
R3116:Or7d9 UTSW 9 20,197,523 (GRCm39) missense probably benign 0.19
R4518:Or7d9 UTSW 9 20,197,546 (GRCm39) missense probably benign 0.00
R7204:Or7d9 UTSW 9 20,197,100 (GRCm39) missense probably benign 0.19
R7395:Or7d9 UTSW 9 20,197,826 (GRCm39) missense probably damaging 0.99
R7775:Or7d9 UTSW 9 20,193,708 (GRCm39) start gained probably benign
R7778:Or7d9 UTSW 9 20,193,708 (GRCm39) start gained probably benign
R8439:Or7d9 UTSW 9 20,197,337 (GRCm39) nonsense probably null
R8878:Or7d9 UTSW 9 20,197,358 (GRCm39) missense probably damaging 1.00
R9669:Or7d9 UTSW 9 20,197,160 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16