Incidental Mutation 'R6321:Or4f59'
ID 510328
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 044418-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R6321 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 111872422-111873375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111873113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000149430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099600] [ENSMUST00000213582] [ENSMUST00000213961] [ENSMUST00000215531]
AlphaFold Q8VF10
Predicted Effect probably benign
Transcript: ENSMUST00000099600
AA Change: V88A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097195
Gene: ENSMUSG00000074947
AA Change: V88A

DomainStartEndE-ValueType
Pfam:7tm_4 27 302 1.6e-43 PFAM
Pfam:7tm_1 38 284 1.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213582
AA Change: V88A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000213961
AA Change: V88A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000215531
AA Change: V88A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G T 13: 111,391,915 (GRCm39) M83I probably damaging Het
Adgra2 T A 8: 27,604,190 (GRCm39) M460K probably benign Het
Aldh16a1 G A 7: 44,799,189 (GRCm39) A31V probably damaging Het
Ank2 T C 3: 126,740,587 (GRCm39) probably benign Het
Arrdc4 C A 7: 68,398,793 (GRCm39) D8Y probably benign Het
Auts2 A G 5: 131,494,953 (GRCm39) Y110H probably damaging Het
Blnk A T 19: 40,922,903 (GRCm39) Y405N probably damaging Het
Capsl T C 15: 9,461,855 (GRCm39) F84L probably damaging Het
Cdcp3 T C 7: 130,858,735 (GRCm39) probably null Het
Cenpl T C 1: 160,902,465 (GRCm39) S46P probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Chrnd C T 1: 87,119,951 (GRCm39) R90C probably damaging Het
Cyfip2 A T 11: 46,182,347 (GRCm39) M37K probably benign Het
Dnah11 T C 12: 118,106,027 (GRCm39) E625G possibly damaging Het
Dnah5 T G 15: 28,372,557 (GRCm39) V2936G probably damaging Het
Dock9 A G 14: 121,783,433 (GRCm39) M2055T probably damaging Het
Epb41l2 A T 10: 25,344,026 (GRCm39) R274S probably damaging Het
Erich3 A T 3: 154,433,139 (GRCm39) H371L probably damaging Het
Evi5l C A 8: 4,253,080 (GRCm39) P454T probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Golgb1 T A 16: 36,738,559 (GRCm39) C2299* probably null Het
Heca G C 10: 17,790,991 (GRCm39) probably null Het
Hecw1 C T 13: 14,697,414 (GRCm39) A9T probably benign Het
Hs3st6 T A 17: 24,977,542 (GRCm39) W341R probably damaging Het
Kidins220 C T 12: 25,107,533 (GRCm39) S1571L probably benign Het
Klk1b9 A G 7: 43,443,732 (GRCm39) E82G probably damaging Het
Ltbp3 C A 19: 5,795,685 (GRCm39) H180Q probably benign Het
Mecom A G 3: 30,034,741 (GRCm39) Y502H probably damaging Het
Mfsd2a A G 4: 122,843,165 (GRCm39) V372A probably benign Het
Mrgprd A G 7: 144,875,879 (GRCm39) D250G probably benign Het
Muc2 A G 7: 141,287,397 (GRCm39) D191G probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or52w1 A G 7: 105,018,109 (GRCm39) Y192C probably damaging Het
Pnpla6 T C 8: 3,594,015 (GRCm39) V1342A probably benign Het
Ppp1r9a A G 6: 5,115,151 (GRCm39) E789G probably damaging Het
Prkdc A G 16: 15,532,783 (GRCm39) T1471A probably benign Het
Scarb1 T A 5: 125,381,395 (GRCm39) S50C probably damaging Het
Slc4a8 C T 15: 100,687,045 (GRCm39) T283M probably damaging Het
Smc2 C A 4: 52,462,814 (GRCm39) D601E probably benign Het
Snx6 C A 12: 54,798,798 (GRCm39) V221F probably damaging Het
Spag17 A C 3: 99,995,743 (GRCm39) K1794T probably benign Het
Tpo A G 12: 30,153,107 (GRCm39) W416R probably damaging Het
Ttc13 C A 8: 125,409,930 (GRCm39) K427N probably damaging Het
Upf3a A T 8: 13,837,466 (GRCm39) N137I possibly damaging Het
Ush2a C T 1: 188,581,243 (GRCm39) Q3708* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zfp451 A G 1: 33,852,816 (GRCm39) F33L probably damaging Het
Zfp454 A G 11: 50,763,876 (GRCm39) F408L probably damaging Het
Zfp639 T C 3: 32,571,237 (GRCm39) Y40H probably 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
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
R8112:Or4f59 UTSW 2 111,872,982 (GRCm39) missense probably damaging 1.00
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'- GGCCACTGAAAACAAGATGC -3'
(R):5'- ATTCCTGGGACTCACCAATTC -3'

Sequencing Primer
(F):5'- CACACCCTTGGGCTCATAATGG -3'
(R):5'- TCCTCCATATTTTATGTGGCAAGC -3'
Posted On 2018-04-02