Incidental Mutation 'R3983:Or6f1'
ID 350685
Institutional Source Beutler Lab
Gene Symbol Or6f1
Ensembl Gene ENSMUSG00000054498
Gene Name olfactory receptor family 6 subfamily F member 1
Synonyms Olfr308, GA_x6K02T2NHDJ-9786435-9787361, MOR104-1
MMRRC Submission 040944-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R3983 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 85970232-85971158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85970942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 73 (Y73H)
Ref Sequence ENSEMBL: ENSMUSP00000150391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044256] [ENSMUST00000214977]
AlphaFold Q8VFP2
Predicted Effect probably damaging
Transcript: ENSMUST00000044256
AA Change: Y73H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049454
Gene: ENSMUSG00000054498
AA Change: Y73H

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.3e-53 PFAM
Pfam:7tm_1 41 290 2.2e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214977
AA Change: Y73H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215841
Meta Mutation Damage Score 0.2931 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (65/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,467,220 (GRCm39) N138Y possibly damaging Het
4921504E06Rik A G 2: 19,547,180 (GRCm39) probably null Het
Abcc6 T C 7: 45,644,713 (GRCm39) I821V probably benign Het
Adam34 G A 8: 44,103,806 (GRCm39) T613I probably benign Het
Ap2b1 C T 11: 83,281,542 (GRCm39) T816M probably damaging Het
Cct2 G A 10: 116,890,040 (GRCm39) P10L probably damaging Het
Cdc23 C A 18: 34,770,539 (GRCm39) probably benign Het
Chrna2 G T 14: 66,386,906 (GRCm39) V351L probably benign Het
Clca3a1 T A 3: 144,461,070 (GRCm39) T194S probably benign Het
Col18a1 C A 10: 76,924,721 (GRCm39) D23Y probably damaging Het
Cyp2c50 A C 19: 40,101,962 (GRCm39) K400T possibly damaging Het
Cyp2c54 G T 19: 40,034,699 (GRCm39) Q324K possibly damaging Het
Dcpp2 T A 17: 24,119,547 (GRCm39) Y120* probably null Het
Ddx11 C T 17: 66,441,125 (GRCm39) R242W probably damaging Het
Dnah7b T A 1: 46,272,871 (GRCm39) V2333E possibly damaging Het
Duxf4 T A 10: 58,071,623 (GRCm39) N197I possibly damaging Het
Eno3 T A 11: 70,552,237 (GRCm39) F296L probably damaging Het
Flnc G A 6: 29,442,940 (GRCm39) V492M probably damaging Het
Gdap1 T G 1: 17,230,131 (GRCm39) probably benign Het
Gm1587 C T 14: 78,032,283 (GRCm39) E118K unknown Het
Gprin3 T C 6: 59,331,545 (GRCm39) E254G possibly damaging Het
Hcrt G A 11: 100,652,679 (GRCm39) R112C probably damaging Het
Hoxa4 A T 6: 52,167,657 (GRCm39) Y175N probably benign Het
Hydin G A 8: 111,118,957 (GRCm39) G504R probably damaging Het
Il1rl1 A G 1: 40,485,823 (GRCm39) R325G possibly damaging Het
Kcp A T 6: 29,484,636 (GRCm39) L1314Q probably damaging Het
Kdm5b C T 1: 134,559,042 (GRCm39) P1522L possibly damaging Het
Kmt2d T G 15: 98,743,927 (GRCm39) probably benign Het
Map3k20 C T 2: 72,268,571 (GRCm39) T526I probably damaging Het
Mfap2 A G 4: 140,741,554 (GRCm39) Q71R possibly damaging Het
Mme T A 3: 63,235,485 (GRCm39) Y178N probably damaging Het
Msr1 A G 8: 40,073,059 (GRCm39) V164A possibly damaging Het
Mybbp1a T C 11: 72,337,996 (GRCm39) V646A probably damaging Het
Mybpc3 A T 2: 90,965,714 (GRCm39) K1175N probably benign Het
Myo1c T A 11: 75,552,325 (GRCm39) L366Q probably benign Het
Or12d15 T C 17: 37,694,289 (GRCm39) V277A possibly damaging Het
Or1e22 A G 11: 73,376,961 (GRCm39) S230P possibly damaging Het
Palmd T C 3: 116,717,472 (GRCm39) T342A probably benign Het
Pde4d A G 13: 109,876,940 (GRCm39) T29A probably benign Het
Rapgef5 A G 12: 117,692,405 (GRCm39) E563G possibly damaging Het
Rdh19 A G 10: 127,686,017 (GRCm39) N43S probably benign Het
Rnf44 A C 13: 54,830,961 (GRCm39) S98R probably damaging Het
Samhd1 C A 2: 156,965,369 (GRCm39) V149L possibly damaging Het
Scn4a G T 11: 106,238,644 (GRCm39) N214K probably damaging Het
Sh3bp4 A G 1: 89,073,591 (GRCm39) N813S probably benign Het
Sirt3 A T 7: 140,458,025 (GRCm39) C41* probably null Het
Speg C A 1: 75,399,191 (GRCm39) P2213T probably benign Het
Srcin1 T G 11: 97,416,379 (GRCm39) E951A probably damaging Het
Syn2 C G 6: 115,214,259 (GRCm39) T161S probably benign Het
Tbc1d4 T C 14: 101,744,649 (GRCm39) T326A probably benign Het
Tcstv2a G T 13: 120,725,815 (GRCm39) A160S possibly damaging Het
Tes T A 6: 17,099,700 (GRCm39) probably null Het
Thoc2l T C 5: 104,668,889 (GRCm39) V1137A probably benign Het
Tln1 T C 4: 43,553,030 (GRCm39) T354A probably damaging Het
Ttn G T 2: 76,632,705 (GRCm39) S12370R possibly damaging Het
Twsg1 T C 17: 66,236,758 (GRCm39) T91A probably benign Het
Vmn1r181 C T 7: 23,684,234 (GRCm39) T233I probably benign Het
Wee2 A T 6: 40,432,175 (GRCm39) N248I possibly damaging Het
Zfp740 G T 15: 102,116,678 (GRCm39) C56F probably benign Het
Other mutations in Or6f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Or6f1 APN 7 85,970,361 (GRCm39) missense probably benign
IGL03141:Or6f1 APN 7 85,970,909 (GRCm39) missense probably damaging 0.97
PIT4519001:Or6f1 UTSW 7 85,970,941 (GRCm39) missense probably damaging 1.00
R0206:Or6f1 UTSW 7 85,970,854 (GRCm39) missense probably benign 0.22
R0206:Or6f1 UTSW 7 85,970,854 (GRCm39) missense probably benign 0.22
R0401:Or6f1 UTSW 7 85,970,500 (GRCm39) missense probably benign 0.02
R2132:Or6f1 UTSW 7 85,970,687 (GRCm39) missense possibly damaging 0.94
R4596:Or6f1 UTSW 7 85,970,631 (GRCm39) missense probably damaging 1.00
R5532:Or6f1 UTSW 7 85,970,879 (GRCm39) missense possibly damaging 0.90
R7326:Or6f1 UTSW 7 85,970,782 (GRCm39) missense probably damaging 0.99
R7480:Or6f1 UTSW 7 85,970,888 (GRCm39) missense probably benign 0.18
R8746:Or6f1 UTSW 7 85,970,437 (GRCm39) missense probably damaging 1.00
R8811:Or6f1 UTSW 7 85,970,989 (GRCm39) missense probably damaging 0.98
R8971:Or6f1 UTSW 7 85,970,369 (GRCm39) missense possibly damaging 0.71
R9497:Or6f1 UTSW 7 85,970,989 (GRCm39) missense probably damaging 0.98
R9666:Or6f1 UTSW 7 85,970,444 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCAGGAGCTAAGAGCCAG -3'
(R):5'- TAGGCTTCCCTGGATCTCAG -3'

Sequencing Primer
(F):5'- CTGAGAGCAGACTGTTCATAATAGTC -3'
(R):5'- TGGATCTCAGGTCCTCCAG -3'
Posted On 2015-10-08