Incidental Mutation 'R3937:Or2f1'
ID 307223
Institutional Source Beutler Lab
Gene Symbol Or2f1
Ensembl Gene ENSMUSG00000095831
Gene Name olfactory receptor family 2 subfamily F member 1
Synonyms MOR257-8P, Olfr453, GA_x6K02T2P3E9-4815856-4814903
MMRRC Submission 040921-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R3937 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 42720973-42721926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42721010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 13 (I13N)
Ref Sequence ENSEMBL: ENSMUSP00000150467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053647] [ENSMUST00000213997]
AlphaFold Q7TRV7
Predicted Effect probably damaging
Transcript: ENSMUST00000053647
AA Change: I13N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052043
Gene: ENSMUSG00000095831
AA Change: I13N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-54 PFAM
Pfam:7tm_1 41 290 1.8e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203812
Predicted Effect probably damaging
Transcript: ENSMUST00000213997
AA Change: I13N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.5583 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (60/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T G 4: 148,026,510 (GRCm39) S343R possibly damaging Het
Abca8b G T 11: 109,865,393 (GRCm39) P355T probably benign Het
Abhd15 T C 11: 77,406,764 (GRCm39) V247A probably benign Het
Adamts1 C T 16: 85,592,507 (GRCm39) V634M possibly damaging Het
BC049715 T C 6: 136,817,453 (GRCm39) I231T possibly damaging Het
Chpf A T 1: 75,454,184 (GRCm39) V198E probably damaging Het
Cp C T 3: 20,025,198 (GRCm39) P386S probably damaging Het
Cth A G 3: 157,625,677 (GRCm39) I107T possibly damaging Het
Ctrc T C 4: 141,567,632 (GRCm39) D157G probably damaging Het
D630003M21Rik A G 2: 158,042,280 (GRCm39) Y889H probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Esyt3 A T 9: 99,218,245 (GRCm39) I130K probably benign Het
F13a1 A T 13: 37,100,875 (GRCm39) V423D probably damaging Het
Faf1 T C 4: 109,614,889 (GRCm39) probably benign Het
Fam227b A T 2: 125,968,980 (GRCm39) D31E probably benign Het
Fastkd2 A G 1: 63,776,995 (GRCm39) D377G possibly damaging Het
Fbxl6 G A 15: 76,420,824 (GRCm39) R384* probably null Het
Fcamr A T 1: 130,732,313 (GRCm39) H44L probably damaging Het
Fhod3 A G 18: 25,223,818 (GRCm39) N1055D probably benign Het
Garem1 A T 18: 21,281,863 (GRCm39) Y164* probably null Het
Gemin4 C T 11: 76,103,714 (GRCm39) C349Y probably damaging Het
Gnal A G 18: 67,268,441 (GRCm39) probably null Het
Hacl1 T C 14: 31,356,148 (GRCm39) probably benign Het
Hectd3 T C 4: 116,855,727 (GRCm39) V409A probably benign Het
Hps6 A G 19: 45,992,492 (GRCm39) E143G probably damaging Het
Hspa4 T A 11: 53,161,776 (GRCm39) I459L probably benign Het
Ighv3-6 G A 12: 114,252,061 (GRCm39) Q21* probably null Het
Ints3 G A 3: 90,311,294 (GRCm39) R438* probably null Het
Jmjd6 T C 11: 116,731,991 (GRCm39) N237D probably benign Het
Lrrk2 C A 15: 91,662,707 (GRCm39) T1912K probably damaging Het
Mdga2 C A 12: 67,267,980 (GRCm39) probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh6 T C 14: 55,200,512 (GRCm39) D203G probably benign Het
Myo5b T C 18: 74,849,108 (GRCm39) S1116P probably damaging Het
Nalcn T A 14: 123,607,357 (GRCm39) D704V probably benign Het
Nes A T 3: 87,878,543 (GRCm39) M12L probably benign Het
Or10ak7 T C 4: 118,791,880 (GRCm39) D53G probably damaging Het
Or10al2 A G 17: 37,983,858 (GRCm39) T315A probably benign Het
Or5j3 T A 2: 86,128,360 (GRCm39) S67T probably damaging Het
Pcdha2 T C 18: 37,074,376 (GRCm39) V669A probably benign Het
Pdhx T C 2: 102,852,564 (GRCm39) N433S probably damaging Het
Pip5kl1 A G 2: 32,469,124 (GRCm39) R261G probably damaging Het
Plekhj1 A G 10: 80,633,609 (GRCm39) I76T probably damaging Het
Ppp1r3a A T 6: 14,719,073 (GRCm39) S614T probably damaging Het
Ptpru T C 4: 131,501,615 (GRCm39) N1207S probably damaging Het
Ranbp2 T C 10: 58,312,294 (GRCm39) F1005L probably benign Het
Rims2 A G 15: 39,301,241 (GRCm39) E324G probably damaging Het
Sema6d A T 2: 124,498,770 (GRCm39) I227L probably benign Het
Smarcad1 T G 6: 65,091,320 (GRCm39) L1014V probably damaging Het
Spag9 T G 11: 93,935,305 (GRCm39) S39A possibly damaging Het
Spag9 T C 11: 93,935,243 (GRCm39) V18A possibly damaging Het
Sun2 T C 15: 79,618,356 (GRCm39) K268E probably benign Het
Tbpl2 C T 2: 23,977,151 (GRCm39) R289Q probably benign Het
Tcea3 T A 4: 135,982,454 (GRCm39) probably benign Het
Tmem185a C T X: 69,505,792 (GRCm39) probably null Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Vmn1r212 A T 13: 23,067,358 (GRCm39) V325E unknown Het
Vmn1r35 T A 6: 66,656,057 (GRCm39) R204S probably damaging Het
Vmn2r57 A G 7: 41,077,554 (GRCm39) M204T probably damaging Het
Wdfy3 A T 5: 102,092,105 (GRCm39) Y411* probably null Het
Zfp335 G T 2: 164,752,620 (GRCm39) D41E probably damaging Het
Other mutations in Or2f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00934:Or2f1 APN 6 42,721,625 (GRCm39) missense probably damaging 1.00
IGL01642:Or2f1 APN 6 42,721,486 (GRCm39) missense probably benign 0.00
IGL02703:Or2f1 APN 6 42,721,010 (GRCm39) missense possibly damaging 0.90
IGL03018:Or2f1 APN 6 42,721,748 (GRCm39) missense probably damaging 1.00
R1163:Or2f1 UTSW 6 42,721,057 (GRCm39) missense probably benign 0.00
R1728:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R1729:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R1730:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R1739:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R1784:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R2014:Or2f1 UTSW 6 42,721,784 (GRCm39) missense probably damaging 0.99
R2015:Or2f1 UTSW 6 42,721,784 (GRCm39) missense probably damaging 0.99
R2130:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R2132:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R2133:Or2f1 UTSW 6 42,721,069 (GRCm39) missense possibly damaging 0.61
R4862:Or2f1 UTSW 6 42,721,489 (GRCm39) missense possibly damaging 0.65
R4959:Or2f1 UTSW 6 42,721,621 (GRCm39) missense probably damaging 1.00
R4973:Or2f1 UTSW 6 42,721,621 (GRCm39) missense probably damaging 1.00
R5155:Or2f1 UTSW 6 42,721,748 (GRCm39) missense probably damaging 1.00
R6581:Or2f1 UTSW 6 42,721,013 (GRCm39) missense probably damaging 1.00
R7028:Or2f1 UTSW 6 42,721,337 (GRCm39) missense probably benign 0.08
R7348:Or2f1 UTSW 6 42,721,790 (GRCm39) missense possibly damaging 0.95
R7490:Or2f1 UTSW 6 42,721,739 (GRCm39) missense probably damaging 1.00
R7522:Or2f1 UTSW 6 42,721,568 (GRCm39) missense probably damaging 0.98
R8373:Or2f1 UTSW 6 42,721,280 (GRCm39) missense probably damaging 0.99
R9224:Or2f1 UTSW 6 42,721,904 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- AAGCACACTGGGATCAGGTC -3'
(R):5'- GCACAGCTCAGAAATGGGATTG -3'

Sequencing Primer
(F):5'- GTCCATCGTGATTCAAAGCG -3'
(R):5'- CACAGCTCAGAAATGGGATTGTTTTG -3'
Posted On 2015-04-17