Incidental Mutation 'R3116:Or7d9'
ID 264030
Institutional Source Beutler Lab
Gene Symbol Or7d9
Ensembl Gene ENSMUSG00000059623
Gene Name olfactory receptor family 7 subfamily D member 9
Synonyms Olfr39, MOR144-1, GA_x6K02T2PVTD-14025733-14026668
MMRRC Submission 040589-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R3116 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 20193647-20197944 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20197523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 176 (H176L)
Ref Sequence ENSEMBL: ENSMUSP00000148572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071725] [ENSMUST00000212983]
AlphaFold E9PVX1
Predicted Effect probably benign
Transcript: ENSMUST00000071725
AA Change: H184L

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000071641
Gene: ENSMUSG00000059623
AA Change: H184L

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: H176L

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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
Abcb4 A T 5: 8,946,610 (GRCm39) I37F possibly damaging Het
Aoc1l3 A G 6: 48,964,331 (GRCm39) Y113C probably damaging Het
Ccdc146 T C 5: 21,521,953 (GRCm39) N357S probably benign Het
Csmd3 A G 15: 47,520,995 (GRCm39) F2783S probably damaging Het
Desi2 T A 1: 178,072,008 (GRCm39) M104K probably damaging Het
Disp1 C T 1: 182,870,486 (GRCm39) V645I probably benign Het
Dock8 A T 19: 25,165,858 (GRCm39) H1914L probably benign Het
Fdft1 T C 14: 63,415,147 (GRCm39) I28M probably benign Het
Ffar3 T C 7: 30,555,231 (GRCm39) M30V probably benign Het
Grm3 A T 5: 9,620,752 (GRCm39) F164Y probably damaging Het
Ints5 T C 19: 8,872,136 (GRCm39) S32P possibly damaging Het
Itgam T A 7: 127,715,201 (GRCm39) S908R probably damaging Het
Kif20b C T 19: 34,947,480 (GRCm39) P1565L probably benign Het
Kntc1 A G 5: 123,940,121 (GRCm39) E1610G probably damaging Het
Krt24 T A 11: 99,173,262 (GRCm39) T298S possibly damaging Het
Magoh T C 4: 107,744,409 (GRCm39) V126A possibly damaging Het
Marchf6 G A 15: 31,486,265 (GRCm39) S362F probably benign Het
Meak7 G A 8: 120,495,056 (GRCm39) A234V probably benign Het
Mier3 T A 13: 111,843,182 (GRCm39) I178N probably damaging Het
Moxd1 G T 10: 24,177,429 (GRCm39) E582* probably null Het
Ncor2 A T 5: 125,101,230 (GRCm39) L2195Q probably damaging Het
Neil1 A T 9: 57,053,947 (GRCm39) D124E probably benign Het
Nhsl1 A T 10: 18,400,916 (GRCm39) Q714L probably damaging Het
Nipbl T A 15: 8,373,076 (GRCm39) M1057L probably benign Het
Npas3 G A 12: 54,114,508 (GRCm39) probably null Het
Oas1h C T 5: 120,999,679 (GRCm39) Q55* probably null Het
Or2a5 T C 6: 42,873,784 (GRCm39) V133A probably benign Het
Or2ag2b T A 7: 106,417,571 (GRCm39) F94I probably damaging Het
Or52h9 C A 7: 104,202,295 (GRCm39) H56Q probably benign Het
Or5p61 T C 7: 107,759,029 (GRCm39) E17G probably benign Het
Phactr2 C A 10: 13,137,645 (GRCm39) E166* probably null Het
Prkdc C T 16: 15,482,222 (GRCm39) L422F probably benign Het
Pum1 T C 4: 130,499,971 (GRCm39) V1051A probably damaging Het
Pxdn T C 12: 30,052,306 (GRCm39) S828P possibly damaging Het
Rad21 T A 15: 51,828,397 (GRCm39) E557V probably null Het
Rtn3 T G 19: 7,409,355 (GRCm39) N888H probably damaging Het
Slc12a5 T A 2: 164,838,101 (GRCm39) probably null Het
Slc7a11 T A 3: 50,338,588 (GRCm39) M274L probably benign Het
Tacc2 A G 7: 130,360,979 (GRCm39) N825S probably damaging Het
Tln2 T A 9: 67,262,421 (GRCm39) D610V probably benign Het
Tmed11 C T 5: 108,927,705 (GRCm39) V110M probably damaging Het
Tmem92 T C 11: 94,673,254 (GRCm39) D3G possibly damaging Het
Trp53rkb C T 2: 166,636,009 (GRCm39) probably benign Het
Wdr91 A G 6: 34,882,522 (GRCm39) L209P probably damaging Het
Zfp511 T A 7: 139,616,504 (GRCm39) D46E probably benign Het
Zfp804a C A 2: 82,089,761 (GRCm39) Q1197K probably damaging Het
Other mutations in Or7d9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Or7d9 APN 9 20,197,691 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCTACATGCAGTGCCTCAC -3'
(R):5'- AAGGCTCTATACTTGCTGACTACTG -3'

Sequencing Primer
(F):5'- ACTGACTGTAATGGCCTTTGAC -3'
(R):5'- CTCTATACTTGCTGACTACTGAAGAC -3'
Posted On 2015-02-05