Incidental Mutation 'R6036:Olfr930'
ID479219
Institutional Source Beutler Lab
Gene Symbol Olfr930
Ensembl Gene ENSMUSG00000063221
Gene Nameolfactory receptor 930
SynonymsGA_x6K02T2PVTD-32626123-32627049, MOR171-46
MMRRC Submission 043257-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #R6036 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location38929809-38931396 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 38930920 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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 probably benign Het
Ago1 C T 4: 126,443,228 R228H probably damaging Het
Alpk3 G A 7: 81,093,257 V941M probably benign Het
Ano4 A G 10: 88,982,265 W588R possibly damaging Het
Atp6v1a A G 16: 44,098,831 Y464H probably benign Het
Barx2 A T 9: 31,913,008 D28E probably damaging Het
Cabp5 A T 7: 13,401,335 M67L probably damaging Het
Col10a1 A G 10: 34,395,282 T417A probably benign Het
Dnah2 C T 11: 69,458,920 R2399Q probably benign Het
Eif4enif1 T C 11: 3,239,420 S227P probably damaging Het
Erv3 G A 2: 131,856,005 H145Y possibly damaging Het
Exoc5 T C 14: 49,014,322 T591A possibly damaging Het
F5 A T 1: 164,184,996 E493V probably damaging Het
Gm8444 G T 15: 81,843,593 probably benign Het
Gria4 T A 9: 4,537,646 I221L probably benign Het
Hc T C 2: 35,039,684 T249A probably benign Het
Herc2 A G 7: 56,068,053 T48A probably benign Het
Hist1h2bl A T 13: 21,715,978 S56T probably damaging Het
Hp A G 8: 109,576,774 probably null Het
Ifna15 T G 4: 88,558,073 D58A possibly damaging Het
Kcnj1 A T 9: 32,397,125 M262L probably benign Het
Krt83 A C 15: 101,487,531 I320S possibly damaging Het
Megf10 A G 18: 57,242,727 N242D probably damaging Het
Nup155 A G 15: 8,128,411 T451A probably benign Het
Olfr1277 C T 2: 111,269,612 G252R probably damaging Het
Olfr1288 T C 2: 111,478,988 L68P probably damaging Het
Olfr559 T A 7: 102,724,485 I2F probably benign Het
Olfr701 A T 7: 106,818,460 I126F probably damaging Het
Pdzd8 G A 19: 59,305,209 P403S probably damaging Het
Piezo2 G A 18: 63,114,948 Q494* probably null Het
Plag1 T C 4: 3,904,618 E191G possibly damaging Het
Pou4f2 A T 8: 78,435,474 S167T probably damaging Het
Scd4 G A 19: 44,344,792 D319N probably damaging Het
Senp2 A T 16: 22,028,558 R279* probably null Het
Sh3rf3 G A 10: 58,813,984 G137D probably benign Het
Simc1 C T 13: 54,524,621 P261S probably benign Het
Slc26a1 T A 5: 108,673,570 D151V probably damaging Het
Snx29 A G 16: 11,738,437 probably null Het
Stard9 C T 2: 120,700,075 A2271V probably benign Het
Stat6 A G 10: 127,655,444 N485D possibly damaging Het
Tpcn2 T C 7: 145,268,869 T280A possibly damaging Het
Ttc23 A G 7: 67,711,366 I378V possibly damaging Het
Ttc29 A G 8: 78,325,576 D362G probably benign Het
Ttll7 A G 3: 146,940,162 I592V probably benign Het
Ugt3a1 A T 15: 9,306,086 H107L probably benign Het
Vmn1r70 A G 7: 10,633,903 Q87R probably damaging Het
Wdfy4 G T 14: 33,146,990 S360R probably damaging Het
Zfp780b A G 7: 27,963,568 Y521H probably damaging Het
Other mutations in Olfr930
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02074:Olfr930 APN 9 38930683 missense probably benign
IGL02309:Olfr930 APN 9 38931052 missense probably damaging 1.00
R0104:Olfr930 UTSW 9 38930965 missense possibly damaging 0.88
R0285:Olfr930 UTSW 9 38930774 missense possibly damaging 0.85
R1557:Olfr930 UTSW 9 38930659 missense possibly damaging 0.95
R1804:Olfr930 UTSW 9 38930650 missense possibly damaging 0.89
R1989:Olfr930 UTSW 9 38930875 missense possibly damaging 0.93
R2158:Olfr930 UTSW 9 38930579 missense probably damaging 0.99
R4934:Olfr930 UTSW 9 38930833 missense probably damaging 1.00
R5108:Olfr930 UTSW 9 38930855 missense probably damaging 1.00
R6036:Olfr930 UTSW 9 38930920 missense probably damaging 0.97
R6459:Olfr930 UTSW 9 38930665 missense probably benign 0.00
R6862:Olfr930 UTSW 9 38930476 missense possibly damaging 0.89
R6928:Olfr930 UTSW 9 38930566 missense probably damaging 1.00
R7042:Olfr930 UTSW 9 38930326 missense possibly damaging 0.93
Predicted Primers
Posted On2017-06-26