Incidental Mutation 'R6273:Or4k52'
ID 507436
Institutional Source Beutler Lab
Gene Symbol Or4k52
Ensembl Gene ENSMUSG00000044560
Gene Name olfactory receptor family 4 subfamily K member 52
Synonyms Olfr1302, GA_x6K02T2Q125-72831562-72832500, MOR248-3
MMRRC Submission 044443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R6273 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 111777429-111782700 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111781222 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 301 (F301L)
Ref Sequence ENSEMBL: ENSMUSP00000150896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054004] [ENSMUST00000214708] [ENSMUST00000215244]
AlphaFold Q8VGE9
Predicted Effect probably benign
Transcript: ENSMUST00000054004
AA Change: F304L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000061674
Gene: ENSMUSG00000044560
AA Change: F304L

Pfam:7tm_4 34 308 2.4e-49 PFAM
Pfam:7tm_1 44 290 8.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214708
AA Change: F301L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215244
AA Change: F301L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 63,898,218 (GRCm38) I99N probably damaging Het
Ank3 G A 10: 70,002,565 (GRCm38) R1566K possibly damaging Het
Ankrd31 A G 13: 96,851,673 (GRCm38) I1065V possibly damaging Het
Aox1 A G 1: 58,339,672 (GRCm38) T1027A probably benign Het
Atm G A 9: 53,487,922 (GRCm38) P1593L probably benign Het
Atp13a5 T G 16: 29,348,737 (GRCm38) I132L probably benign Het
BC035044 A G 6: 128,890,889 (GRCm38) probably benign Het
Cadm3 CT C 1: 173,349,124 (GRCm38) probably benign Homo
Car3 C T 3: 14,871,617 (GRCm38) P247S probably benign Het
Ccdc7a T C 8: 128,787,338 (GRCm38) Y160C probably damaging Het
Cd1d1 A G 3: 86,998,257 (GRCm38) V143A probably benign Het
Cemip2 T A 19: 21,802,005 (GRCm38) V393E probably damaging Het
Cog6 A T 3: 52,996,052 (GRCm38) F142I probably damaging Het
Cracd A T 5: 76,857,721 (GRCm38) D643V unknown Het
Crhr1 T G 11: 104,163,856 (GRCm38) N98K possibly damaging Het
Csf1 A G 3: 107,749,163 (GRCm38) V72A probably damaging Het
Cwc15 T A 9: 14,510,241 (GRCm38) I201K probably benign Het
Dgka T C 10: 128,723,646 (GRCm38) K482R probably benign Het
Dnah7b T C 1: 46,242,316 (GRCm38) S2846P possibly damaging Het
Dst T A 1: 34,275,266 (GRCm38) I4199N probably damaging Het
Dusp7 A G 9: 106,373,896 (GRCm38) T407A possibly damaging Het
Eml2 G A 7: 19,201,163 (GRCm38) V432I probably damaging Het
Fem1a T C 17: 56,257,083 (GRCm38) Y59H possibly damaging Het
Fetub C T 16: 22,932,331 (GRCm38) R143C probably damaging Het
Filip1 A T 9: 79,815,886 (GRCm38) D1150E probably benign Het
Gabra1 A G 11: 42,140,311 (GRCm38) V264A probably damaging Het
Gm4131 T C 14: 62,464,850 (GRCm38) E223G probably damaging Het
Gon4l T C 3: 88,855,849 (GRCm38) V333A probably damaging Het
Gsk3b A G 16: 38,208,046 (GRCm38) T289A probably benign Het
Hmcn2 T C 2: 31,411,834 (GRCm38) S2912P probably damaging Het
Htr7 A T 19: 36,041,569 (GRCm38) probably benign Het
Ibsp A G 5: 104,310,301 (GRCm38) T235A probably benign Het
Ints13 A T 6: 146,565,681 (GRCm38) D116E probably damaging Het
Irag1 G T 7: 110,871,583 (GRCm38) H848N probably benign Het
Kctd19 T C 8: 105,385,485 (GRCm38) N753S probably benign Het
Mdn1 A G 4: 32,715,979 (GRCm38) N2054D probably benign Het
Mink1 A T 11: 70,611,435 (GRCm38) K880* probably null Het
Myo15b T A 11: 115,862,799 (GRCm38) L824Q possibly damaging Het
Napepld T C 5: 21,665,322 (GRCm38) E366G probably benign Het
Obscn T A 11: 59,076,993 (GRCm38) T2662S possibly damaging Het
Or2g7 T G 17: 38,067,795 (GRCm38) L208R probably damaging Het
Or2n1b T A 17: 38,148,942 (GRCm38) M118K possibly damaging Het
Or52p1 A G 7: 104,617,895 (GRCm38) D72G probably damaging Het
Or5b12 A G 19: 12,919,400 (GRCm38) V303A probably benign Het
Or6d13 A G 6: 116,541,316 (GRCm38) T288A possibly damaging Het
Pah T C 10: 87,576,215 (GRCm38) probably null Het
Panx3 T G 9: 37,667,429 (GRCm38) I85L probably benign Het
Pate4 T C 9: 35,607,790 (GRCm38) N94D probably benign Het
Pde4d A G 13: 109,950,221 (GRCm38) M610V possibly damaging Het
Pik3c2b T C 1: 133,066,711 (GRCm38) S138P probably benign Het
Pkn1 T C 8: 83,672,270 (GRCm38) N696S probably damaging Het
Plppr2 A G 9: 21,944,505 (GRCm38) E258G probably damaging Het
Plxnd1 A T 6: 115,978,492 (GRCm38) M538K probably damaging Het
Prepl G T 17: 85,083,268 (GRCm38) N87K probably benign Het
Prkag2 C A 5: 24,947,536 (GRCm38) R190L probably damaging Het
Rara A G 11: 98,970,222 (GRCm38) T179A probably benign Het
Rfx7 A G 9: 72,616,997 (GRCm38) K490E possibly damaging Het
Rgsl1 C T 1: 153,827,465 (GRCm38) V147M possibly damaging Het
Rph3a A G 5: 120,945,422 (GRCm38) I595T possibly damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,579,908 (GRCm38) probably benign Homo
Slc35e2 C T 4: 155,610,026 (GRCm38) P10L probably benign Het
Slc8a2 T C 7: 16,145,334 (GRCm38) F582L possibly damaging Het
Sprr2e A G 3: 92,352,864 (GRCm38) M1V probably null Het
Steap1 T A 5: 5,740,827 (GRCm38) R40S possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm38) G252R probably benign Het
Thsd7a A T 6: 12,408,836 (GRCm38) V729E probably damaging Het
Tmprss13 A G 9: 45,345,332 (GRCm38) Y525C probably damaging Het
Tnik A T 3: 28,577,500 (GRCm38) H383L possibly damaging Het
Vars1 T C 17: 35,013,743 (GRCm38) L881S probably damaging Het
Vmn1r201 A C 13: 22,475,215 (GRCm38) S200R probably damaging Het
Vmn2r14 A T 5: 109,221,267 (GRCm38) W147R probably benign Het
Vmn2r-ps130 A T 17: 23,076,785 (GRCm38) H643L probably benign Het
Vps53 T C 11: 76,102,018 (GRCm38) E367G probably benign Het
Xab2 C T 8: 3,611,822 (GRCm38) G544S probably damaging Het
Ythdf3 T A 3: 16,204,856 (GRCm38) V400E possibly damaging Het
Zfand5 C T 19: 21,279,696 (GRCm38) P147S probably benign Het
Zfp768 A T 7: 127,345,147 (GRCm38) probably null Het
Zswim8 A G 14: 20,713,453 (GRCm38) M423V probably benign Het
Other mutations in Or4k52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01354:Or4k52 APN 2 111,780,901 (GRCm38) missense possibly damaging 0.80
IGL01604:Or4k52 APN 2 111,780,590 (GRCm38) missense possibly damaging 0.60
IGL02959:Or4k52 APN 2 111,780,610 (GRCm38) missense probably damaging 1.00
IGL02975:Or4k52 APN 2 111,780,921 (GRCm38) nonsense probably null
IGL03357:Or4k52 APN 2 111,780,526 (GRCm38) missense probably benign 0.01
R0245:Or4k52 UTSW 2 111,780,335 (GRCm38) missense probably damaging 1.00
R1522:Or4k52 UTSW 2 111,780,348 (GRCm38) splice site probably null
R2126:Or4k52 UTSW 2 111,780,496 (GRCm38) missense probably damaging 0.99
R2432:Or4k52 UTSW 2 111,780,671 (GRCm38) missense probably benign 0.01
R4780:Or4k52 UTSW 2 111,780,845 (GRCm38) missense probably damaging 1.00
R5260:Or4k52 UTSW 2 111,781,181 (GRCm38) missense probably damaging 1.00
R5517:Or4k52 UTSW 2 111,780,459 (GRCm38) missense probably benign
R7315:Or4k52 UTSW 2 111,780,659 (GRCm38) missense probably damaging 0.96
R7740:Or4k52 UTSW 2 111,780,448 (GRCm38) missense possibly damaging 0.94
R8742:Or4k52 UTSW 2 111,780,565 (GRCm38) missense probably benign 0.03
R8891:Or4k52 UTSW 2 111,780,841 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-03-15