Incidental Mutation 'R6036:Olfr930'
ID 479219
Institutional Source Beutler Lab
Gene Symbol Olfr930
Ensembl Gene ENSMUSG00000063221
Gene Name olfactory receptor 930
Synonyms GA_x6K02T2PVTD-32626123-32627049, MOR171-46
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R6036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 38929809-38931396 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38930920 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 250 (I250V)
Ref Sequence ENSEMBL: ENSMUSP00000149230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058789] [ENSMUST00000217208]
AlphaFold Q9EQ99
Predicted Effect probably damaging
Transcript: ENSMUST00000058789
AA Change: I250V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080385
Gene: ENSMUSG00000063221
AA Change: I250V

Pfam:7tm_4 31 308 1.3e-45 PFAM
Pfam:7tm_1 41 290 1.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217208
AA Change: I250V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,832,858 (GRCm38) probably benign Het
Ago1 C T 4: 126,443,228 (GRCm38) R228H probably damaging Het
Alpk3 G A 7: 81,093,257 (GRCm38) V941M probably benign Het
Ano4 A G 10: 88,982,265 (GRCm38) W588R possibly damaging Het
Atp6v1a A G 16: 44,098,831 (GRCm38) Y464H probably benign Het
Barx2 A T 9: 31,913,008 (GRCm38) D28E probably damaging Het
Cabp5 A T 7: 13,401,335 (GRCm38) M67L probably damaging Het
Col10a1 A G 10: 34,395,282 (GRCm38) T417A probably benign Het
Dnah2 C T 11: 69,458,920 (GRCm38) R2399Q probably benign Het
Eif4enif1 T C 11: 3,239,420 (GRCm38) S227P probably damaging Het
Erv3 G A 2: 131,856,005 (GRCm38) H145Y possibly damaging Het
Exoc5 T C 14: 49,014,322 (GRCm38) T591A possibly damaging Het
F5 A T 1: 164,184,996 (GRCm38) E493V probably damaging Het
Gm8444 G T 15: 81,843,593 (GRCm38) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm38) I221L probably benign Het
Hc T C 2: 35,039,684 (GRCm38) T249A probably benign Het
Herc2 A G 7: 56,068,053 (GRCm38) T48A probably benign Het
Hist1h2bl A T 13: 21,715,978 (GRCm38) S56T probably damaging Het
Hp A G 8: 109,576,774 (GRCm38) probably null Het
Ifna15 T G 4: 88,558,073 (GRCm38) D58A possibly damaging Het
Kcnj1 A T 9: 32,397,125 (GRCm38) M262L probably benign Het
Krt83 A C 15: 101,487,531 (GRCm38) I320S possibly damaging Het
Megf10 A G 18: 57,242,727 (GRCm38) N242D probably damaging Het
Nup155 A G 15: 8,128,411 (GRCm38) T451A probably benign Het
Olfr1277 C T 2: 111,269,612 (GRCm38) G252R probably damaging Het
Olfr1288 T C 2: 111,478,988 (GRCm38) L68P probably damaging Het
Olfr559 T A 7: 102,724,485 (GRCm38) I2F probably benign Het
Olfr701 A T 7: 106,818,460 (GRCm38) I126F probably damaging Het
Pdzd8 G A 19: 59,305,209 (GRCm38) P403S probably damaging Het
Piezo2 G A 18: 63,114,948 (GRCm38) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm38) E191G possibly damaging Het
Pou4f2 A T 8: 78,435,474 (GRCm38) S167T probably damaging Het
Scd4 G A 19: 44,344,792 (GRCm38) D319N probably damaging Het
Senp2 A T 16: 22,028,558 (GRCm38) R279* probably null Het
Sh3rf3 G A 10: 58,813,984 (GRCm38) G137D probably benign Het
Simc1 C T 13: 54,524,621 (GRCm38) P261S probably benign Het
Slc26a1 T A 5: 108,673,570 (GRCm38) D151V probably damaging Het
Snx29 A G 16: 11,738,437 (GRCm38) probably null Het
Stard9 C T 2: 120,700,075 (GRCm38) A2271V probably benign Het
Stat6 A G 10: 127,655,444 (GRCm38) N485D possibly damaging Het
Tpcn2 T C 7: 145,268,869 (GRCm38) T280A possibly damaging Het
Ttc23 A G 7: 67,711,366 (GRCm38) I378V possibly damaging Het
Ttc29 A G 8: 78,325,576 (GRCm38) D362G probably benign Het
Ttll7 A G 3: 146,940,162 (GRCm38) I592V probably benign Het
Ugt3a1 A T 15: 9,306,086 (GRCm38) H107L probably benign Het
Vmn1r70 A G 7: 10,633,903 (GRCm38) Q87R probably damaging Het
Wdfy4 G T 14: 33,146,990 (GRCm38) S360R probably damaging Het
Zfp780b A G 7: 27,963,568 (GRCm38) Y521H probably damaging Het
Other mutations in Olfr930
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02074:Olfr930 APN 9 38,930,683 (GRCm38) missense probably benign
IGL02309:Olfr930 APN 9 38,931,052 (GRCm38) missense probably damaging 1.00
R0104:Olfr930 UTSW 9 38,930,965 (GRCm38) missense possibly damaging 0.88
R0285:Olfr930 UTSW 9 38,930,774 (GRCm38) missense possibly damaging 0.85
R1557:Olfr930 UTSW 9 38,930,659 (GRCm38) missense possibly damaging 0.95
R1804:Olfr930 UTSW 9 38,930,650 (GRCm38) missense possibly damaging 0.89
R1989:Olfr930 UTSW 9 38,930,875 (GRCm38) missense possibly damaging 0.93
R2158:Olfr930 UTSW 9 38,930,579 (GRCm38) missense probably damaging 0.99
R4934:Olfr930 UTSW 9 38,930,833 (GRCm38) missense probably damaging 1.00
R5108:Olfr930 UTSW 9 38,930,855 (GRCm38) missense probably damaging 1.00
R6036:Olfr930 UTSW 9 38,930,920 (GRCm38) missense probably damaging 0.97
R6459:Olfr930 UTSW 9 38,930,665 (GRCm38) missense probably benign 0.00
R6862:Olfr930 UTSW 9 38,930,476 (GRCm38) missense possibly damaging 0.89
R6928:Olfr930 UTSW 9 38,930,566 (GRCm38) missense probably damaging 1.00
R7042:Olfr930 UTSW 9 38,930,326 (GRCm38) missense possibly damaging 0.93
R7365:Olfr930 UTSW 9 38,930,776 (GRCm38) missense probably damaging 0.99
R8733:Olfr930 UTSW 9 38,930,689 (GRCm38) missense probably benign 0.00
R8829:Olfr930 UTSW 9 38,930,894 (GRCm38) missense probably damaging 1.00
R9323:Olfr930 UTSW 9 38,930,522 (GRCm38) missense probably benign
Predicted Primers
Posted On 2017-06-26