Incidental Mutation 'R2265:Or51f1d'
ID 244075
Institutional Source Beutler Lab
Gene Symbol Or51f1d
Ensembl Gene ENSMUSG00000073960
Gene Name olfactory receptor family 51 subfamily F member 1D
Synonyms Olfr583, GA_x6K02T2PBJ9-5762668-5763618, MOR14-6
MMRRC Submission 040265-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R2265 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102700507-102701466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102701344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 280 (V280I)
Ref Sequence ENSEMBL: ENSMUSP00000095812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098211]
AlphaFold Q8VG25
Predicted Effect probably benign
Transcript: ENSMUST00000098211
AA Change: V280I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095812
Gene: ENSMUSG00000073960
AA Change: V280I

DomainStartEndE-ValueType
Pfam:7tm_4 40 319 9.1e-107 PFAM
Pfam:7TM_GPCR_Srsx 45 316 1.4e-5 PFAM
Pfam:7tm_1 50 301 9.6e-20 PFAM
Meta Mutation Damage Score 0.0853 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T C 1: 12,042,328 (GRCm39) probably null Het
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Abca16 A G 7: 120,030,383 (GRCm39) D165G probably benign Het
Adam24 T A 8: 41,133,110 (GRCm39) S193T possibly damaging Het
Adra2b T C 2: 127,205,791 (GRCm39) S103P probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Alg11 T A 8: 22,555,630 (GRCm39) V255E probably benign Het
Aox1 C A 1: 58,120,679 (GRCm39) D857E probably damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Bdkrb2 A G 12: 105,558,484 (GRCm39) T242A probably benign Het
Cdca7 T C 2: 72,312,834 (GRCm39) L190P probably benign Het
Cenpe A G 3: 134,967,397 (GRCm39) T2180A probably benign Het
Cep41 T A 6: 30,660,915 (GRCm39) I126F possibly damaging Het
Col16a1 C A 4: 129,946,711 (GRCm39) H111Q probably benign Het
Cops3 T C 11: 59,718,716 (GRCm39) T193A probably benign Het
Dbr1 G A 9: 99,461,463 (GRCm39) V153M probably damaging Het
Ddx4 A G 13: 112,757,810 (GRCm39) Y290H probably benign Het
Dgkb T A 12: 38,240,107 (GRCm39) S461R possibly damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnajc28 T C 16: 91,413,200 (GRCm39) N372S probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dock3 C A 9: 106,818,525 (GRCm39) V1190F probably damaging Het
Exosc1 A G 19: 41,919,857 (GRCm39) S54P probably damaging Het
Fbxw22 C T 9: 109,213,062 (GRCm39) R295K probably benign Het
Foxo1 T C 3: 52,253,333 (GRCm39) S499P probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hspa2 T G 12: 76,452,962 (GRCm39) I552S probably benign Het
Imp4 T A 1: 34,482,928 (GRCm39) I173N probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Kcnh6 G A 11: 105,924,643 (GRCm39) R816Q probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnip3 G T 2: 127,306,981 (GRCm39) A173D probably benign Het
Kir3dl1 A G X: 135,425,784 (GRCm39) R53G probably benign Het
Klhl31 A G 9: 77,557,440 (GRCm39) D52G possibly damaging Het
Klk1b21 T C 7: 43,753,863 (GRCm39) I49T possibly damaging Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lilrb4a T A 10: 51,367,633 (GRCm39) Y58* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh7 T C 4: 106,578,124 (GRCm39) N185D probably benign Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Mycbp2 T C 14: 103,500,185 (GRCm39) D937G probably benign Het
Myo18b A G 5: 112,930,539 (GRCm39) M1799T probably damaging Het
Nr4a2 T A 2: 57,002,018 (GRCm39) D145V possibly damaging Het
Ntmt1 C A 2: 30,710,472 (GRCm39) N58K probably benign Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or2m12 A G 16: 19,105,305 (GRCm39) Y63H probably damaging Het
Or4f54 A G 2: 111,123,524 (GRCm39) T304A probably benign Het
Or52n20 T C 7: 104,320,067 (GRCm39) F53L probably benign Het
Or8k28 T C 2: 86,286,558 (GRCm39) Y19C possibly damaging Het
Ovch2 A T 7: 107,383,782 (GRCm39) M521K probably damaging Het
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Pcdhb19 A T 18: 37,630,736 (GRCm39) H177L probably damaging Het
Phf8 T C X: 150,355,597 (GRCm39) L520S possibly damaging Het
Pjvk T G 2: 76,487,797 (GRCm39) S230A possibly damaging Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Rad9b T C 5: 122,489,405 (GRCm39) Y41C probably damaging Het
Ranbp3l A T 15: 9,057,194 (GRCm39) I286F probably damaging Het
Rtel1 T A 2: 180,996,161 (GRCm39) V739D probably damaging Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spg11 A T 2: 121,938,788 (GRCm39) C389S possibly damaging Het
Srsf4 T C 4: 131,624,993 (GRCm39) V130A probably damaging Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tas2r117 T A 6: 132,780,188 (GRCm39) C109S probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Ttc21a G T 9: 119,788,074 (GRCm39) C833F possibly damaging Het
Vash2 T C 1: 190,682,410 (GRCm39) N347D probably damaging Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Zfp616 T C 11: 73,976,289 (GRCm39) Y853H possibly damaging Het
Other mutations in Or51f1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Or51f1d APN 7 102,700,582 (GRCm39) missense probably benign 0.02
IGL02200:Or51f1d APN 7 102,701,000 (GRCm39) missense probably benign
IGL02412:Or51f1d APN 7 102,701,359 (GRCm39) missense probably benign 0.01
IGL02452:Or51f1d APN 7 102,701,138 (GRCm39) missense probably benign 0.00
IGL02859:Or51f1d APN 7 102,701,345 (GRCm39) missense probably benign 0.00
IGL03078:Or51f1d APN 7 102,701,036 (GRCm39) missense probably damaging 1.00
R0675:Or51f1d UTSW 7 102,700,909 (GRCm39) missense probably benign 0.22
R1474:Or51f1d UTSW 7 102,701,288 (GRCm39) missense probably damaging 1.00
R1531:Or51f1d UTSW 7 102,700,795 (GRCm39) missense probably benign 0.00
R1535:Or51f1d UTSW 7 102,700,576 (GRCm39) missense probably benign 0.14
R1777:Or51f1d UTSW 7 102,700,583 (GRCm39) missense probably benign 0.41
R1883:Or51f1d UTSW 7 102,701,189 (GRCm39) missense probably benign 0.00
R1884:Or51f1d UTSW 7 102,701,189 (GRCm39) missense probably benign 0.00
R2267:Or51f1d UTSW 7 102,701,344 (GRCm39) missense probably benign 0.00
R2269:Or51f1d UTSW 7 102,701,344 (GRCm39) missense probably benign 0.00
R2299:Or51f1d UTSW 7 102,700,789 (GRCm39) missense probably damaging 0.99
R3802:Or51f1d UTSW 7 102,701,372 (GRCm39) missense probably benign 0.05
R4239:Or51f1d UTSW 7 102,701,003 (GRCm39) missense probably benign 0.17
R4426:Or51f1d UTSW 7 102,701,018 (GRCm39) missense probably damaging 1.00
R5335:Or51f1d UTSW 7 102,700,742 (GRCm39) missense probably damaging 1.00
R6048:Or51f1d UTSW 7 102,700,526 (GRCm39) missense probably benign 0.00
R6270:Or51f1d UTSW 7 102,700,538 (GRCm39) missense probably benign 0.27
R6837:Or51f1d UTSW 7 102,700,929 (GRCm39) nonsense probably null
R7257:Or51f1d UTSW 7 102,700,837 (GRCm39) missense probably benign 0.39
R8506:Or51f1d UTSW 7 102,700,709 (GRCm39) missense probably damaging 1.00
R8947:Or51f1d UTSW 7 102,701,315 (GRCm39) missense probably damaging 0.99
R9638:Or51f1d UTSW 7 102,701,018 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGGGGTAGATATTCCCTGC -3'
(R):5'- ATCGAATGGGGAAATCTCCAAC -3'

Sequencing Primer
(F):5'- AGGGGTAGATATTCCCTGCATTGTC -3'
(R):5'- TGGGGAAATCTCCAACCACATTTG -3'
Posted On 2014-10-16