Incidental Mutation 'R6061:Or2f1b'
ID 483227
Institutional Source Beutler Lab
Gene Symbol Or2f1b
Ensembl Gene ENSMUSG00000095236
Gene Name olfactory receptor family 2 subfamily F member 1B
Synonyms 18A, GA_x6K02T2P3E9-4797841-4796888, Olfr38, MOR257-2
MMRRC Submission 044226-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6061 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 42738988-42739941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42739899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 304 (L304F)
Ref Sequence ENSEMBL: ENSMUSP00000149726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074499] [ENSMUST00000215796]
AlphaFold Q8VGP4
Predicted Effect probably damaging
Transcript: ENSMUST00000074499
AA Change: L304F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093654
Gene: ENSMUSG00000095236
AA Change: L304F

Pfam:7tm_4 31 307 1.8e-52 PFAM
Pfam:7tm_1 41 290 5.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215796
AA Change: L304F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A C 6: 128,545,675 (GRCm39) F484C probably damaging Het
Aoc1l1 A C 6: 48,953,535 (GRCm39) I487L probably benign Het
Cdsn A G 17: 35,865,803 (GRCm39) S111G unknown Het
Ctnnal1 T C 4: 56,812,349 (GRCm39) T726A probably benign Het
Cyp2j11 T A 4: 96,236,853 (GRCm39) probably benign Het
Ddx60 T A 8: 62,476,275 (GRCm39) M1541K probably null Het
Dnah14 C T 1: 181,536,616 (GRCm39) P2420S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Glipr1l1 C T 10: 111,912,075 (GRCm39) T203M probably benign Het
Gm4353 T A 7: 115,683,504 (GRCm39) D97V probably benign Het
Gprc6a A T 10: 51,491,907 (GRCm39) I543K probably damaging Het
Ifi205 T C 1: 173,854,830 (GRCm39) T110A possibly damaging Het
Med27 T A 2: 29,399,453 (GRCm39) S95T probably damaging Het
Mocs1 T C 17: 49,757,341 (GRCm39) S308P probably damaging Het
Mrpl11 C T 19: 5,013,397 (GRCm39) S88F possibly damaging Het
Nav3 A T 10: 109,702,845 (GRCm39) Y229* probably null Het
Or2n1e A G 17: 38,585,772 (GRCm39) M37V probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Or52r1 C A 7: 102,537,158 (GRCm39) L67F probably benign Het
Or5g27 T A 2: 85,409,886 (GRCm39) M101K possibly damaging Het
Pear1 A G 3: 87,663,238 (GRCm39) I460T probably benign Het
Phc3 T A 3: 30,968,678 (GRCm39) K816N probably damaging Het
Phf19 T A 2: 34,787,129 (GRCm39) D445V probably damaging Het
Pkd2l2 T C 18: 34,563,742 (GRCm39) F486L probably damaging Het
Plagl1 G T 10: 13,003,639 (GRCm39) probably benign Het
Prkca A G 11: 107,948,671 (GRCm39) I106T probably benign Het
Ptpn3 C T 4: 57,248,681 (GRCm39) G218R probably damaging Het
Ptx3 A G 3: 66,132,130 (GRCm39) D217G possibly damaging Het
Rab3d T C 9: 21,821,815 (GRCm39) T209A probably benign Het
Rfx2 A G 17: 57,084,473 (GRCm39) F642S possibly damaging Het
Rhpn2 T A 7: 35,075,636 (GRCm39) M271K possibly damaging Het
Serpinb6b A G 13: 33,161,977 (GRCm39) T259A probably damaging Het
Speer3 G A 5: 13,844,705 (GRCm39) V123M possibly damaging Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Thbs4 A G 13: 92,888,303 (GRCm39) F950L probably benign Het
Tiparp T C 3: 65,460,664 (GRCm39) V551A probably damaging Het
Vmn2r71 T A 7: 85,268,482 (GRCm39) D228E probably benign Het
Vmn2r85 T C 10: 130,261,531 (GRCm39) I269V probably benign Het
Vps9d1 A T 8: 123,972,410 (GRCm39) M497K probably damaging Het
Wnt5b A G 6: 119,410,603 (GRCm39) V241A probably damaging Het
Xdh T C 17: 74,228,342 (GRCm39) N353S probably damaging Het
Zfp526 C T 7: 24,925,757 (GRCm39) T672M probably damaging Het
Other mutations in Or2f1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Or2f1b APN 6 42,739,046 (GRCm39) missense probably damaging 0.99
IGL01567:Or2f1b APN 6 42,739,661 (GRCm39) missense probably benign 0.07
IGL02097:Or2f1b APN 6 42,739,394 (GRCm39) missense probably damaging 0.98
IGL02186:Or2f1b APN 6 42,739,880 (GRCm39) missense probably null 0.96
IGL02473:Or2f1b APN 6 42,739,640 (GRCm39) missense probably damaging 1.00
R0541:Or2f1b UTSW 6 42,739,154 (GRCm39) missense probably damaging 1.00
R1210:Or2f1b UTSW 6 42,739,601 (GRCm39) missense possibly damaging 0.79
R1368:Or2f1b UTSW 6 42,739,613 (GRCm39) missense possibly damaging 0.91
R2383:Or2f1b UTSW 6 42,739,393 (GRCm39) missense probably benign 0.44
R4614:Or2f1b UTSW 6 42,739,352 (GRCm39) missense probably benign 0.07
R4616:Or2f1b UTSW 6 42,739,352 (GRCm39) missense probably benign 0.07
R4844:Or2f1b UTSW 6 42,739,394 (GRCm39) missense probably damaging 0.98
R5121:Or2f1b UTSW 6 42,739,931 (GRCm39) nonsense probably null
R5951:Or2f1b UTSW 6 42,739,493 (GRCm39) missense probably damaging 1.00
R6336:Or2f1b UTSW 6 42,739,591 (GRCm39) missense probably damaging 1.00
R7414:Or2f1b UTSW 6 42,739,762 (GRCm39) missense probably damaging 1.00
R8344:Or2f1b UTSW 6 42,739,499 (GRCm39) missense probably benign 0.03
R9603:Or2f1b UTSW 6 42,739,672 (GRCm39) nonsense probably null
X0018:Or2f1b UTSW 6 42,739,869 (GRCm39) missense probably damaging 0.99
Z1177:Or2f1b UTSW 6 42,739,141 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-07-14