Incidental Mutation 'R8112:Or4f59'
ID 630910
Institutional Source Beutler Lab
Gene Symbol Or4f59
Ensembl Gene ENSMUSG00000074947
Gene Name olfactory receptor family 4 subfamily F member 59
Synonyms GA_x6K02T2Q125-73090482-73089529, MOR245-20, Olfr1312
MMRRC Submission 067541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8112 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 111872422-111873375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111872982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 132 (I132F)
Ref Sequence ENSEMBL: ENSMUSP00000150415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099600] [ENSMUST00000213582] [ENSMUST00000213961] [ENSMUST00000215531]
AlphaFold Q8VF10
Predicted Effect probably damaging
Transcript: ENSMUST00000099600
AA Change: I132F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097195
Gene: ENSMUSG00000074947
AA Change: I132F

DomainStartEndE-ValueType
Pfam:7tm_4 27 302 1.6e-43 PFAM
Pfam:7tm_1 38 284 1.3e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213582
AA Change: I132F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000213961
AA Change: I132F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215531
AA Change: I132F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.5%
  • 20x: 95.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,264,624 (GRCm39) V3002A probably benign Het
Aifm3 T C 16: 17,320,804 (GRCm39) V422A probably damaging Het
Alx3 G T 3: 107,512,300 (GRCm39) E313* probably null Het
Arfgef3 A G 10: 18,528,379 (GRCm39) V336A possibly damaging Het
Art5 A T 7: 101,747,218 (GRCm39) V187E probably benign Het
Atxn1 A G 13: 45,721,433 (GRCm39) V154A probably benign Het
B3galt1 A G 2: 67,948,702 (GRCm39) D139G probably damaging Het
Cbx5 A G 15: 103,108,171 (GRCm39) V158A probably benign Het
Cdca7l T C 12: 117,840,779 (GRCm39) probably null Het
Cecr2 T C 6: 120,739,175 (GRCm39) S1301P probably benign Het
Chmp3 T A 6: 71,538,012 (GRCm39) S80T probably benign Het
Cyp2g1 T A 7: 26,518,886 (GRCm39) D427E probably benign Het
Depdc5 G A 5: 33,126,050 (GRCm39) V1199I possibly damaging Het
Efcab3 T C 11: 104,841,026 (GRCm39) V3643A unknown Het
Ehmt1 G T 2: 24,753,396 (GRCm39) L335M probably damaging Het
Elfn2 A G 15: 78,557,635 (GRCm39) V304A probably damaging Het
Emc1 C T 4: 139,094,498 (GRCm39) R684W probably benign Het
Eme2 A T 17: 25,113,809 (GRCm39) V72E probably damaging Het
Gen1 T A 12: 11,304,374 (GRCm39) K230* probably null Het
Gfap T A 11: 102,787,928 (GRCm39) I6F probably benign Het
Grid2 T C 6: 63,885,891 (GRCm39) S96P probably damaging Het
H2-M2 A G 17: 37,794,383 (GRCm39) L13P unknown Het
Hps4 T G 5: 112,517,977 (GRCm39) C323W probably benign Het
Ing3 A G 6: 21,952,181 (GRCm39) K52E probably damaging Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Klhl3 C T 13: 58,161,677 (GRCm39) V473M possibly damaging Het
Krt4 T A 15: 101,828,724 (GRCm39) N380I probably damaging Het
Lrp1 A T 10: 127,441,715 (GRCm39) C174S probably damaging Het
Lrrc8e T C 8: 4,285,575 (GRCm39) I600T probably benign Het
Malt1 T C 18: 65,582,680 (GRCm39) probably null Het
Mindy1 T C 3: 95,202,122 (GRCm39) L333P probably damaging Het
Mrgprb1 A G 7: 48,097,682 (GRCm39) S77P probably damaging Het
Mtus2 G T 5: 148,013,713 (GRCm39) E169* probably null Het
Muc5b A G 7: 141,415,765 (GRCm39) T2904A possibly damaging Het
Noxa1 C T 2: 24,982,553 (GRCm39) probably null Het
Ogfod3 G A 11: 121,095,376 (GRCm39) R5W probably damaging Het
Or7g35 T A 9: 19,496,020 (GRCm39) F62L probably benign Het
Or9i16 A G 19: 13,864,753 (GRCm39) S274P probably damaging Het
Pgm3 C A 9: 86,446,828 (GRCm39) R230L probably benign Het
Plpbp A G 8: 27,536,069 (GRCm39) I121V unknown Het
Prl8a9 T C 13: 27,743,355 (GRCm39) D150G probably benign Het
Psapl1 A G 5: 36,362,919 (GRCm39) N504D probably benign Het
Ptchd4 A C 17: 42,814,066 (GRCm39) N656H probably benign Het
Ptprs A T 17: 56,741,532 (GRCm39) Y577* probably null Het
Rasgef1c A G 11: 49,858,228 (GRCm39) Y263C probably damaging Het
Rinl A G 7: 28,490,014 (GRCm39) probably null Het
Scd4 T C 19: 44,325,945 (GRCm39) F100L probably benign Het
Scgb2b20 T G 7: 33,063,969 (GRCm39) R100S probably benign Het
Scn8a C T 15: 100,927,718 (GRCm39) A1399V probably benign Het
Slc22a7 A G 17: 46,747,756 (GRCm39) V267A probably benign Het
Slc7a11 T C 3: 50,372,440 (GRCm39) E263G possibly damaging Het
Slmap A G 14: 26,143,703 (GRCm39) L728P probably damaging Het
Smarcb1 A T 10: 75,745,986 (GRCm39) probably null Het
Sspn T C 6: 145,901,361 (GRCm39) V80A possibly damaging Het
Tasor2 A T 13: 3,619,516 (GRCm39) D2238E probably damaging Het
Terb1 T C 8: 105,195,399 (GRCm39) T581A probably benign Het
Themis A G 10: 28,673,502 (GRCm39) *596W probably null Het
Thoc2l T C 5: 104,669,501 (GRCm39) F1341S probably benign Het
Trac T C 14: 54,460,557 (GRCm39) probably benign Het
Trim37 T C 11: 87,109,093 (GRCm39) F940S possibly damaging Het
Trpa1 T C 1: 14,974,490 (GRCm39) T231A probably benign Het
Ttn T C 2: 76,580,529 (GRCm39) I23455V probably benign Het
Wap G T 11: 6,586,724 (GRCm39) T125K probably benign Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Zfp85 T C 13: 67,896,893 (GRCm39) D393G possibly damaging Het
Other mutations in Or4f59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Or4f59 APN 2 111,872,716 (GRCm39) missense probably benign 0.00
IGL01650:Or4f59 APN 2 111,872,720 (GRCm39) missense possibly damaging 0.84
IGL02390:Or4f59 APN 2 111,873,056 (GRCm39) missense possibly damaging 0.84
IGL03392:Or4f59 APN 2 111,873,321 (GRCm39) missense probably benign 0.00
R1170:Or4f59 UTSW 2 111,872,560 (GRCm39) missense probably benign 0.45
R1620:Or4f59 UTSW 2 111,872,591 (GRCm39) missense probably benign 0.07
R2083:Or4f59 UTSW 2 111,872,898 (GRCm39) missense probably benign 0.05
R3605:Or4f59 UTSW 2 111,873,168 (GRCm39) missense probably benign
R4182:Or4f59 UTSW 2 111,872,873 (GRCm39) missense probably damaging 1.00
R5739:Or4f59 UTSW 2 111,873,128 (GRCm39) missense probably damaging 0.99
R6321:Or4f59 UTSW 2 111,873,113 (GRCm39) missense probably benign 0.07
R7231:Or4f59 UTSW 2 111,872,711 (GRCm39) missense probably damaging 1.00
R7365:Or4f59 UTSW 2 111,873,359 (GRCm39) missense possibly damaging 0.95
R7673:Or4f59 UTSW 2 111,872,925 (GRCm39) missense probably benign
R7978:Or4f59 UTSW 2 111,872,523 (GRCm39) missense possibly damaging 0.92
R8167:Or4f59 UTSW 2 111,872,789 (GRCm39) missense possibly damaging 0.91
R8356:Or4f59 UTSW 2 111,872,943 (GRCm39) missense probably damaging 0.99
R8799:Or4f59 UTSW 2 111,872,528 (GRCm39) missense probably damaging 1.00
R9186:Or4f59 UTSW 2 111,873,095 (GRCm39) missense probably damaging 1.00
R9658:Or4f59 UTSW 2 111,872,823 (GRCm39) missense probably damaging 1.00
Z1177:Or4f59 UTSW 2 111,873,000 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAGCCCACAGACATGAATC -3'
(R):5'- TTCTCCCAAGATGATTTGTGACC -3'

Sequencing Primer
(F):5'- GAATCCACTATTGATTGAGACCAG -3'
(R):5'- CCCAAGATGATTTGTGACCTGTTCAG -3'
Posted On 2020-06-30