Incidental Mutation 'R7231:Or4f59'
ID 562445
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 045342-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R7231 (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 T at 111872711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 222 (V222D)
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: V222D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097195
Gene: ENSMUSG00000074947
AA Change: V222D

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: V222D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213961
AA Change: V222D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215531
AA Change: V222D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (78/80)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,244,175 (GRCm39) T2013S probably benign Het
Ablim3 A G 18: 61,938,135 (GRCm39) probably null Het
Acvrl1 T A 15: 101,034,104 (GRCm39) C206* probably null Het
Adamts15 C A 9: 30,817,454 (GRCm39) R541S probably damaging Het
Add3 A G 19: 53,221,577 (GRCm39) I230V probably benign Het
Ankrd27 A G 7: 35,327,871 (GRCm39) D742G possibly damaging Het
Asxl3 A G 18: 22,650,597 (GRCm39) E862G probably damaging Het
Asxl3 A T 18: 22,544,556 (GRCm39) probably null Het
Atp2b2 G A 6: 113,742,693 (GRCm39) T798M possibly damaging Het
Car12 T C 9: 66,659,599 (GRCm39) I208T probably damaging Het
Cgn T A 3: 94,680,502 (GRCm39) Q600L probably damaging Het
Cgnl1 C T 9: 71,539,927 (GRCm39) A1106T probably benign Het
Cmtr2 T C 8: 110,949,178 (GRCm39) V496A probably benign Het
Cplx4 C A 18: 66,090,123 (GRCm39) D99Y probably damaging Het
Cyfip2 T C 11: 46,114,963 (GRCm39) T915A probably benign Het
Cyp4a32 T C 4: 115,466,894 (GRCm39) L193P probably damaging Het
Dennd5b C T 6: 148,946,102 (GRCm39) R503Q probably damaging Het
Depdc5 C A 5: 33,059,209 (GRCm39) Q303K possibly damaging Het
Dlx1 T A 2: 71,362,840 (GRCm39) M249K possibly damaging Het
Dnah10 A T 5: 124,890,892 (GRCm39) E3218V probably benign Het
Dnah9 T C 11: 65,856,473 (GRCm39) D2896G probably damaging Het
Dtx4 C A 19: 12,447,022 (GRCm39) G557* probably null Het
Eps8l2 A G 7: 140,940,305 (GRCm39) N512D probably damaging Het
Fam20a T C 11: 109,612,201 (GRCm39) D114G possibly damaging Het
Fbln1 T C 15: 85,090,353 (GRCm39) S7P unknown Het
Fli1 T C 9: 32,335,484 (GRCm39) E316G probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Haus8 G A 8: 71,705,781 (GRCm39) T302I probably benign Het
Hmcn1 T C 1: 150,514,627 (GRCm39) I3582V probably benign Het
Hnrnpul1 G A 7: 25,447,842 (GRCm39) Q161* probably null Het
Hsf4 C T 8: 105,998,779 (GRCm39) A223V probably damaging Het
Ighg2c A G 12: 113,251,636 (GRCm39) W164R Het
Isl1 A G 13: 116,439,826 (GRCm39) V174A probably benign Het
Itih4 A T 14: 30,618,571 (GRCm39) I661F probably benign Het
Klhl14 A T 18: 21,785,193 (GRCm39) L78Q probably damaging Het
L3mbtl3 T A 10: 26,215,180 (GRCm39) I177F unknown Het
Lingo3 T A 10: 80,670,938 (GRCm39) T331S possibly damaging Het
Lrrc36 T C 8: 106,187,689 (GRCm39) V535A possibly damaging Het
Mapk8ip2 T G 15: 89,342,279 (GRCm39) S497A probably benign Het
Mbip A G 12: 56,384,547 (GRCm39) probably null Het
Nelfa C T 5: 34,056,169 (GRCm39) G498D probably damaging Het
Nherf2 C T 17: 24,869,078 (GRCm39) R16H probably damaging Het
Nlrc5 T A 8: 95,248,433 (GRCm39) probably null Het
Or2ag2b A T 7: 106,417,650 (GRCm39) Y120F probably damaging Het
Or56a3 T C 7: 104,734,994 (GRCm39) S24P possibly damaging Het
Or7e171-ps1 T A 9: 19,852,855 (GRCm39) T294S unknown Het
Pde2a A G 7: 101,155,160 (GRCm39) Y567C probably damaging Het
Pdia4 A T 6: 47,777,891 (GRCm39) F367Y probably benign Het
Pkdrej C A 15: 85,700,389 (GRCm39) C1849F possibly damaging Het
Plekhj1 T G 10: 80,633,492 (GRCm39) T52P probably damaging Het
Ppp2r5d A T 17: 46,994,986 (GRCm39) Y572N probably benign Het
Prkcq T A 2: 11,295,262 (GRCm39) Y570* probably null Het
Ptpn3 T A 4: 57,245,062 (GRCm39) D226V probably damaging Het
Rab1b A G 19: 5,155,229 (GRCm39) S22P probably damaging Het
Ralgapa1 A G 12: 55,650,976 (GRCm39) S2060P probably damaging Het
Rnf148 G T 6: 23,654,890 (GRCm39) S35R probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Samd15 T A 12: 87,247,818 (GRCm39) S168T possibly damaging Het
Slc26a4 T A 12: 31,597,945 (GRCm39) N167I probably damaging Het
Slc39a1 C A 3: 90,159,097 (GRCm39) H141Q probably benign Het
Snx21 T C 2: 164,628,121 (GRCm39) S46P probably benign Het
Strip2 A G 6: 29,944,486 (GRCm39) S657G probably damaging Het
Stxbp3 G A 3: 108,708,125 (GRCm39) P392L probably damaging Het
Suclg1 G A 6: 73,240,954 (GRCm39) R161H probably benign Het
Tas1r3 T C 4: 155,947,283 (GRCm39) Y134C probably damaging Het
Tgif1 T A 17: 71,153,168 (GRCm39) Q114L probably damaging Het
Tll2 A G 19: 41,074,673 (GRCm39) F964L probably benign Het
Tmem181a T C 17: 6,348,195 (GRCm39) S247P possibly damaging Het
Trav23 A T 14: 54,215,025 (GRCm39) R79S probably damaging Het
Trf C A 9: 103,102,347 (GRCm39) C177F probably damaging Het
Triml1 T C 8: 43,589,408 (GRCm39) Y260C probably benign Het
Tulp4 T C 17: 6,286,510 (GRCm39) F1513L probably benign Het
Umodl1 G A 17: 31,205,090 (GRCm39) V562I probably damaging Het
Ush2a A G 1: 188,491,960 (GRCm39) K3083R possibly damaging Het
Vmn1r74 A T 7: 11,580,888 (GRCm39) I63F probably benign Het
Vmn2r38 C T 7: 9,100,637 (GRCm39) C43Y possibly damaging Het
Vmn2r50 A T 7: 9,787,010 (GRCm39) N32K probably benign Het
Vps13d A G 4: 144,784,032 (GRCm39) V3914A Het
Vwa5b2 A G 16: 20,422,878 (GRCm39) T984A probably benign Het
Zc3h3 C T 15: 75,712,231 (GRCm39) V77M probably damaging Het
Zfp397 A T 18: 24,093,415 (GRCm39) H300L probably damaging Het
Zfp950 G A 19: 61,107,650 (GRCm39) R478C probably benign 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
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'- GAAAGGGTGTGACAATTGCATC -3'
(R):5'- GCATCTTGTTTTCAGTGGCC -3'

Sequencing Primer
(F):5'- GTGACAATTGCATCAAATATGGCCAG -3'
(R):5'- GGTTCAACTGGCTTTCGTAGTAAAC -3'
Posted On 2019-06-26