Incidental Mutation 'R4616:Or2f1b'
ID 351037
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 041827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R4616 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 42738988-42739941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 42739352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 122 (R122L)
Ref Sequence ENSEMBL: ENSMUSP00000149726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074499] [ENSMUST00000215796]
AlphaFold Q8VGP4
Predicted Effect probably benign
Transcript: ENSMUST00000074499
AA Change: R122L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093654
Gene: ENSMUSG00000095236
AA Change: R122L

Pfam:7tm_4 31 307 1.8e-52 PFAM
Pfam:7tm_1 41 290 5.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215796
AA Change: R122L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.2198 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P possibly 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
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
R6061:Or2f1b UTSW 6 42,739,899 (GRCm39) missense probably damaging 0.99
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 2015-10-08