Incidental Mutation 'R9764:Or4f52'
ID 733122
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R9764 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 111061198-111063738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111061521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 206 (I206F)
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: I206F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097215
Gene: ENSMUSG00000074966
AA Change: I206F

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: I206F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217539
AA Change: I206F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik T C 13: 97,166,738 (GRCm39) T93A unknown Het
Adgrg6 T A 10: 14,302,515 (GRCm39) H938L probably benign Het
Aff1 A G 5: 103,997,365 (GRCm39) Y1153C probably damaging Het
Akr1c20 T A 13: 4,564,388 (GRCm39) I42L probably benign Het
Atad2b T A 12: 5,082,064 (GRCm39) N1324K probably benign Het
Aurka T A 2: 172,201,760 (GRCm39) I270F probably damaging Het
Camk2g A T 14: 20,815,498 (GRCm39) D189E probably damaging Het
Cc2d2b A G 19: 40,804,299 (GRCm39) D942G unknown Het
Ccnd1 A C 7: 144,491,770 (GRCm39) S90A probably benign Het
Cfap77 G T 2: 28,852,741 (GRCm39) T177K probably damaging Het
Chd9 A G 8: 91,721,220 (GRCm39) N1003D unknown Het
Chga C G 12: 102,525,613 (GRCm39) Q85E possibly damaging Het
Cnot1 T C 8: 96,496,209 (GRCm39) S322G probably benign Het
Cyp8b1 C A 9: 121,744,294 (GRCm39) S346I probably benign Het
Cysltr2 T A 14: 73,266,906 (GRCm39) H268L probably damaging Het
Dnah11 T C 12: 117,884,704 (GRCm39) T3783A probably benign Het
Dock3 C T 9: 106,959,713 (GRCm39) V109I probably benign Het
Dscc1 A G 15: 54,953,674 (GRCm39) C50R probably benign Het
Dtx3l T A 16: 35,753,277 (GRCm39) D443V probably damaging Het
Ephb6 A G 6: 41,592,911 (GRCm39) H383R probably benign Het
Fdft1 A G 14: 63,400,869 (GRCm39) I88T probably damaging Het
Fmo3 C A 1: 162,794,524 (GRCm39) W182L probably benign Het
Folh1 T A 7: 86,406,158 (GRCm39) Q305L probably benign Het
Gale C T 4: 135,692,975 (GRCm39) Q73* probably null Het
Gm9195 T C 14: 72,699,885 (GRCm39) M1154V unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gtsf1l T C 2: 162,929,052 (GRCm39) T144A probably benign Het
Itpkc T C 7: 26,927,222 (GRCm39) T231A probably benign Het
Kng2 C A 16: 22,822,737 (GRCm39) C205F probably damaging Het
Ldlrap1 T G 4: 134,476,661 (GRCm39) N244T probably benign Het
Lingo2 A G 4: 35,709,750 (GRCm39) F77L possibly damaging Het
Lpcat2b A T 5: 107,581,438 (GRCm39) T256S possibly damaging Het
Lrit2 A G 14: 36,790,936 (GRCm39) D205G probably damaging Het
Lrrc34 T C 3: 30,697,467 (GRCm39) D88G probably damaging Het
Macf1 T C 4: 123,366,136 (GRCm39) E2875G probably benign Het
Med13 G T 11: 86,177,345 (GRCm39) Q1584K possibly damaging Het
Naip5 C G 13: 100,367,269 (GRCm39) A276P probably damaging Het
Ndufv2 A G 17: 66,394,503 (GRCm39) Y121H probably damaging Het
Peg12 T C 7: 62,113,297 (GRCm39) T267A unknown Het
Pkig A G 2: 163,567,375 (GRCm39) probably null Het
Prkch C G 12: 73,747,078 (GRCm39) T319S probably benign Het
Rhobtb1 T C 10: 69,115,202 (GRCm39) S534P probably damaging Het
Riok2 A G 17: 17,607,814 (GRCm39) N454S probably benign Het
Ryr2 T A 13: 11,701,935 (GRCm39) K2907N possibly damaging Het
Sdc3 C T 4: 130,546,048 (GRCm39) P136S unknown Het
Slc37a3 G A 6: 39,322,844 (GRCm39) L371F probably damaging Het
Slc3a1 A T 17: 85,371,419 (GRCm39) H657L probably damaging Het
Slc7a13 T A 4: 19,819,033 (GRCm39) Y78N probably benign Het
Slfn8 G T 11: 82,907,838 (GRCm39) A235E probably damaging Het
Snap91 T A 9: 86,707,094 (GRCm39) D232V possibly damaging Het
Stap2 C A 17: 56,309,914 (GRCm39) S79I probably damaging Het
Stra6l T C 4: 45,884,602 (GRCm39) V544A probably damaging Het
Syn2 T C 6: 115,251,219 (GRCm39) probably null Het
Tctn1 G A 5: 122,388,527 (GRCm39) P284S possibly damaging Het
Terb2 G A 2: 122,018,475 (GRCm39) M77I probably benign Het
Trim80 G T 11: 115,338,757 (GRCm39) R529L possibly damaging Het
Washc2 T C 6: 116,186,048 (GRCm39) L86P possibly damaging Het
Zfp74 A T 7: 29,631,845 (GRCm39) F133Y probably benign Het
Zfp987 T A 4: 146,060,752 (GRCm39) N61K 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
R5819:Or4f52 UTSW 2 111,061,304 (GRCm39) missense probably damaging 1.00
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
Z1177:Or4f52 UTSW 2 111,061,375 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCAAAATGGCCAGGAACTTATC -3'
(R):5'- ACCCACGGATGTGTCTTTTG -3'

Sequencing Primer
(F):5'- TGGCACAGTAGGAAATGGCC -3'
(R):5'- GATTAGTGCCTGGATTATTGGTCTC -3'
Posted On 2022-11-14