Incidental Mutation 'R5819:Or4f52'
ID 449202
Institutional Source Beutler Lab
Gene Symbol Or4f52
Ensembl Gene ENSMUSG00000074966
Gene Name olfactory receptor family 4 subfamily F member 52
Synonyms MOR245-18, GA_x6K02T2Q125-72283260-72282322, Olfr1275
MMRRC Submission 043399-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5819 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111061198-111063738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111061304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 278 (I278N)
Ref Sequence ENSEMBL: ENSMUSP00000150515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000099620] [ENSMUST00000216421] [ENSMUST00000217539]
AlphaFold Q7TQY8
Predicted Effect probably benign
Transcript: ENSMUST00000028577
SMART Domains Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157

DomainStartEndE-ValueType
ANK 78 107 1.61e-4 SMART
ANK 111 140 3.6e-2 SMART
ANK 144 173 4.89e-4 SMART
ANK 177 206 4.03e-5 SMART
ANK 210 239 8.72e-1 SMART
Blast:ANK 243 272 4e-12 BLAST
low complexity region 460 472 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099620
AA Change: I278N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097215
Gene: ENSMUSG00000074966
AA Change: I278N

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 9.8e-37 PFAM
Pfam:7tm_1 41 287 5.6e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216421
AA Change: I278N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000217539
AA Change: I278N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,930,630 (GRCm39) I1376F probably damaging Het
Aggf1 T C 13: 95,488,129 (GRCm39) N673D possibly damaging Het
Avil T C 10: 126,845,867 (GRCm39) F372S probably damaging Het
Bltp1 A T 3: 37,102,749 (GRCm39) M4863L probably benign Het
Bod1l T A 5: 41,989,948 (GRCm39) E258D probably benign Het
Chek1 T A 9: 36,621,701 (GRCm39) H420L probably benign Het
Cyfip1 A G 7: 55,528,899 (GRCm39) I260M probably damaging Het
Dclk1 G A 3: 55,397,285 (GRCm39) V524I probably damaging Het
Efr3b T C 12: 4,042,965 (GRCm39) M102V probably benign Het
Erc2 T A 14: 27,863,326 (GRCm39) I517N probably damaging Het
Fubp1 T C 3: 151,926,190 (GRCm39) I305T probably damaging Het
Galc T A 12: 98,182,520 (GRCm39) D443V probably benign Het
Galnt4 T A 10: 98,945,892 (GRCm39) I539N probably damaging Het
Gm17093 G T 14: 44,758,986 (GRCm39) M169I unknown Het
Htra1 T C 7: 130,583,469 (GRCm39) F363S probably damaging Het
Itprid1 A T 6: 55,874,876 (GRCm39) K275N probably benign Het
Klhdc8b G A 9: 108,328,261 (GRCm39) P64S probably benign Het
Kmt2c A G 5: 25,614,130 (GRCm39) probably null Het
Mettl21c T G 1: 44,048,882 (GRCm39) K222Q probably damaging Het
Mga A C 2: 119,771,744 (GRCm39) M1535L possibly damaging Het
Mov10 C T 3: 104,708,828 (GRCm39) G395D probably damaging Het
Ms4a10 C A 19: 10,946,054 (GRCm39) A26S probably benign Het
Mtcl3 A T 10: 29,073,269 (GRCm39) M854L probably benign Het
Naaladl1 A G 19: 6,159,684 (GRCm39) N372D possibly damaging Het
Optc T C 1: 133,825,617 (GRCm39) D303G probably damaging Het
Osmr C A 15: 6,845,268 (GRCm39) V833L probably benign Het
Phf14 A G 6: 11,997,251 (GRCm39) probably null Het
Pjvk A G 2: 76,488,713 (GRCm39) I295V probably benign Het
Plppr4 T A 3: 117,119,513 (GRCm39) I299L possibly damaging Het
Prkg1 A G 19: 31,563,072 (GRCm39) S110P probably benign Het
Ptprq T A 10: 107,555,744 (GRCm39) probably benign Het
Rarb T G 14: 16,443,820 (GRCm38) N156T possibly damaging Het
Rgl3 A T 9: 21,892,898 (GRCm39) probably null Het
Ruvbl1 A C 6: 88,460,097 (GRCm39) probably null Het
S1pr1 G T 3: 115,505,789 (GRCm39) C268* probably null Het
Sbk3 T C 7: 4,972,996 (GRCm39) D58G probably benign Het
Scgb2b3 T A 7: 31,059,639 (GRCm39) H45L possibly damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tas2r119 T C 15: 32,177,452 (GRCm39) L6P probably damaging Het
Tcp11 A T 17: 28,288,210 (GRCm39) F339L probably damaging Het
Tdpoz8 A G 3: 92,981,039 (GRCm39) Y19C probably damaging Het
Tmprss5 T A 9: 49,025,779 (GRCm39) probably null Het
Trnau1ap A G 4: 132,052,521 (GRCm39) probably benign Het
Trp53bp1 G A 2: 121,038,873 (GRCm39) R1397* probably null Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Vmn2r13 T A 5: 109,321,966 (GRCm39) M244L possibly damaging Het
Zfp777 C T 6: 48,014,522 (GRCm39) E395K probably damaging Het
Zfyve27 A G 19: 42,171,935 (GRCm39) S156G probably benign Het
Other mutations in Or4f52
AlleleSourceChrCoordTypePredicted EffectPPH Score
3-1:Or4f52 UTSW 2 111,061,808 (GRCm39) missense possibly damaging 0.77
R0477:Or4f52 UTSW 2 111,062,009 (GRCm39) missense probably benign 0.00
R1209:Or4f52 UTSW 2 111,061,958 (GRCm39) missense probably damaging 1.00
R1780:Or4f52 UTSW 2 111,062,043 (GRCm39) missense probably benign
R5386:Or4f52 UTSW 2 111,061,539 (GRCm39) missense probably benign 0.05
R5637:Or4f52 UTSW 2 111,061,456 (GRCm39) missense probably benign 0.26
R6007:Or4f52 UTSW 2 111,061,275 (GRCm39) missense probably benign 0.30
R6414:Or4f52 UTSW 2 111,061,497 (GRCm39) splice site probably null
R6557:Or4f52 UTSW 2 111,061,976 (GRCm39) missense probably benign 0.01
R6864:Or4f52 UTSW 2 111,061,542 (GRCm39) missense probably benign 0.26
R7035:Or4f52 UTSW 2 111,061,784 (GRCm39) missense probably damaging 1.00
R7660:Or4f52 UTSW 2 111,061,960 (GRCm39) missense probably damaging 1.00
R7708:Or4f52 UTSW 2 111,061,863 (GRCm39) missense probably damaging 1.00
R8739:Or4f52 UTSW 2 111,061,834 (GRCm39) missense probably benign 0.00
R9541:Or4f52 UTSW 2 111,061,275 (GRCm39) missense probably damaging 0.99
R9727:Or4f52 UTSW 2 111,061,961 (GRCm39) missense probably damaging 1.00
R9764:Or4f52 UTSW 2 111,061,521 (GRCm39) missense probably damaging 0.98
Z1177:Or4f52 UTSW 2 111,061,375 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCCCATTACATGAAATGTCTGG -3'
(R):5'- GCTGACAGTGGATTTATTTCTCTC -3'

Sequencing Primer
(F):5'- CCCATTACATGAAATGTCTGGAAGGC -3'
(R):5'- ACAGTGGATTTATTTCTCTCAGTACC -3'
Posted On 2016-12-20