Incidental Mutation 'IGL03392:Or4f59'
ID 421086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4f59
Ensembl Gene ENSMUSG00000074947
Gene Name olfactory receptor family 4 subfamily F member 59
Synonyms GA_x6K02T2Q125-73090482-73089529, MOR245-20, Olfr1312
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03392
Quality Score
Status
Chromosome 2
Chromosomal Location 111872422-111873375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111873321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 19 (N19Y)
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: N19Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097195
Gene: ENSMUSG00000074947
AA Change: N19Y

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: N19Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000213961
AA Change: N19Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215531
AA Change: N19Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,403,931 (GRCm39) D692E probably damaging Het
Adgrb3 T A 1: 25,543,529 (GRCm39) R366S probably damaging Het
Afg3l2 C A 18: 67,547,139 (GRCm39) probably benign Het
Cd5 T C 19: 10,703,653 (GRCm39) probably benign Het
Cnbd1 A G 4: 18,862,111 (GRCm39) S360P probably damaging Het
Col13a1 A T 10: 61,721,490 (GRCm39) L305I possibly damaging Het
Commd7 A T 2: 153,464,684 (GRCm39) probably benign Het
Cpsf6 A T 10: 117,203,884 (GRCm39) Y23N probably damaging Het
Cry1 A G 10: 84,992,993 (GRCm39) V75A possibly damaging Het
Cyp2c39 A G 19: 39,501,767 (GRCm39) N107D probably benign Het
Dcaf11 T A 14: 55,798,878 (GRCm39) V45E probably damaging Het
Dnm2 A G 9: 21,385,907 (GRCm39) E310G probably damaging Het
Fat3 T A 9: 15,915,158 (GRCm39) I1597L probably benign Het
Fcamr A G 1: 130,728,685 (GRCm39) probably benign Het
Fer A G 17: 64,298,637 (GRCm39) I529V probably damaging Het
Fhdc1 T C 3: 84,351,826 (GRCm39) K1133R possibly damaging Het
Foxd3 A G 4: 99,545,432 (GRCm39) K191E probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gbp8 A G 5: 105,164,410 (GRCm39) probably null Het
Glb1 T G 9: 114,259,389 (GRCm39) N106K probably damaging Het
Hpx A G 7: 105,241,609 (GRCm39) I295T probably damaging Het
Ipo5 T A 14: 121,180,099 (GRCm39) D844E probably damaging Het
Krt17 T C 11: 100,150,561 (GRCm39) I159V possibly damaging Het
Lgi4 G A 7: 30,762,605 (GRCm39) probably null Het
Lrrc49 T C 9: 60,573,563 (GRCm39) probably benign Het
Ltn1 T C 16: 87,222,499 (GRCm39) K178R probably damaging Het
Myh8 T A 11: 67,185,244 (GRCm39) W832R probably damaging Het
Nbn A G 4: 15,962,362 (GRCm39) N30S probably damaging Het
Or2j3 A G 17: 38,615,786 (GRCm39) S189P probably benign Het
Or4a72 A T 2: 89,405,593 (GRCm39) V159D probably damaging Het
Or51ai2 T C 7: 103,587,232 (GRCm39) V215A probably benign Het
Pcdh15 A T 10: 74,460,104 (GRCm39) I1314F probably damaging Het
Phf14 G A 6: 11,962,658 (GRCm39) S435N probably damaging Het
Prss45 T A 9: 110,669,618 (GRCm39) Y231* probably null Het
Pus7l T C 15: 94,434,449 (GRCm39) D339G probably damaging Het
Sbk2 A G 7: 4,960,408 (GRCm39) F254S probably damaging Het
Serpina1b T G 12: 103,698,329 (GRCm39) K173N possibly damaging Het
Slc13a5 G A 11: 72,136,004 (GRCm39) T469I probably damaging Het
Spon1 A G 7: 113,633,522 (GRCm39) E655G probably damaging Het
Sv2b T C 7: 74,806,508 (GRCm39) probably null Het
Treh A G 9: 44,597,228 (GRCm39) D514G probably damaging Het
Umodl1 T A 17: 31,215,329 (GRCm39) L1051Q probably damaging Het
Usp5 A G 6: 124,803,350 (GRCm39) F4S probably damaging Het
Vmn1r16 A G 6: 57,299,879 (GRCm39) S248P 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
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
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
Posted On 2016-08-02