Incidental Mutation 'R6414:Or4f52'
ID 514842
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 044556-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6414 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 111061198-111063738 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 111061497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000099620] [ENSMUST00000216421] [ENSMUST00000217539]
AlphaFold Q7TQY8
Predicted Effect probably null
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: L214V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097215
Gene: ENSMUSG00000074966
AA Change: L214V

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: L214V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217539
AA Change: L214V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,503,985 (GRCm39) I389L possibly damaging Het
Acap1 A G 11: 69,775,162 (GRCm39) V367A probably benign Het
Alpk1 T C 3: 127,473,858 (GRCm39) D715G probably benign Het
Atg101 T A 15: 101,188,341 (GRCm39) C149S probably benign Het
Atp2c1 A T 9: 105,343,855 (GRCm39) I84N probably damaging Het
Ceacam20 C A 7: 19,710,056 (GRCm39) A360E probably damaging Het
Chd3 A T 11: 69,243,371 (GRCm39) probably null Het
Clcc1 G A 3: 108,584,167 (GRCm39) C517Y possibly damaging Het
Col6a5 T C 9: 105,769,465 (GRCm39) probably null Het
Ctnna3 T C 10: 64,096,644 (GRCm39) V394A probably benign Het
Ctsll3 A G 13: 60,948,113 (GRCm39) F188S probably damaging Het
Cyth4 T C 15: 78,492,346 (GRCm39) V125A probably damaging Het
Ddx43 G A 9: 78,308,218 (GRCm39) V131I probably benign Het
Elp4 A G 2: 105,734,788 (GRCm39) S16P possibly damaging Het
Espl1 T A 15: 102,223,995 (GRCm39) V1182E probably damaging Het
Fhod3 T C 18: 25,223,935 (GRCm39) S1094P possibly damaging Het
Fmo6 A T 1: 162,748,014 (GRCm39) V350D probably damaging Het
Frem1 A G 4: 82,858,773 (GRCm39) F1545S probably damaging Het
Gata3 T A 2: 9,863,245 (GRCm39) H423L possibly damaging Het
Golt1a A T 1: 133,248,032 (GRCm39) M87L probably damaging Het
Gpr171 A T 3: 59,005,544 (GRCm39) V77E probably damaging Het
Hectd2 A G 19: 36,596,186 (GRCm39) D757G probably benign Het
Hmmr A G 11: 40,606,694 (GRCm39) probably null Het
Il31ra A G 13: 112,660,441 (GRCm39) V635A possibly damaging Het
Lama1 T C 17: 68,053,905 (GRCm39) probably null Het
Ltbp4 G A 7: 27,010,140 (GRCm39) P1140L probably damaging Het
Macf1 A G 4: 123,386,988 (GRCm39) L1210P possibly damaging Het
Meox2 A T 12: 37,158,830 (GRCm39) M1L probably benign Het
Mex3d A G 10: 80,217,205 (GRCm39) S671P unknown Het
Mrgprb2 C T 7: 48,202,129 (GRCm39) V199I probably benign Het
Mroh9 A T 1: 162,902,271 (GRCm39) V114E probably damaging Het
Muc5b A G 7: 141,412,834 (GRCm39) K1927E unknown Het
Or6c35 T A 10: 129,169,578 (GRCm39) I276K probably benign Het
Otogl C T 10: 107,617,911 (GRCm39) C1734Y probably damaging Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh15 T A 10: 74,021,258 (GRCm39) N162K probably damaging Het
Pcdhb10 A C 18: 37,546,898 (GRCm39) H658P possibly damaging Het
Pgm2l1 G T 7: 99,904,747 (GRCm39) A160S possibly damaging Het
Prkag2 T A 5: 25,305,178 (GRCm39) probably benign Het
Rap1gap2 A G 11: 74,296,616 (GRCm39) L457P probably damaging Het
Rasef C T 4: 73,658,818 (GRCm39) V463M probably benign Het
Rb1 T C 14: 73,520,414 (GRCm39) S42G unknown Het
Reep3 C A 10: 66,875,356 (GRCm39) V36F probably damaging Het
Rhcg A G 7: 79,248,716 (GRCm39) probably null Het
Sbno1 T C 5: 124,533,994 (GRCm39) S661G probably benign Het
Slc25a3 T G 10: 90,958,190 (GRCm39) Q50P possibly damaging Het
Slc2a13 T A 15: 91,228,008 (GRCm39) I395F probably benign Het
Slc6a5 C T 7: 49,559,991 (GRCm39) probably benign Het
Snta1 G C 2: 154,219,987 (GRCm39) T391S possibly damaging Het
Spata7 T C 12: 98,629,479 (GRCm39) probably null Het
Stx17 A G 4: 48,158,809 (GRCm39) probably null Het
Terf2 A T 8: 107,803,486 (GRCm39) S365T probably benign Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Trim8 A T 19: 46,491,346 (GRCm39) H155L probably benign Het
Wipi2 T A 5: 142,641,693 (GRCm39) V83D probably damaging Het
Zbtb47 T G 9: 121,592,725 (GRCm39) D348E probably benign Het
Zfp316 C A 5: 143,240,639 (GRCm39) R460L possibly damaging Het
Zfp799 C T 17: 33,039,259 (GRCm39) V336M probably damaging Het
Zfp947 A T 17: 22,365,395 (GRCm39) I93N probably damaging Het
Zranb3 A G 1: 127,968,694 (GRCm39) Y74H 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
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'- GTCCAAAATGGCCAGGAACTTATC -3'
(R):5'- ACCCACGGATGTGTCTTTTG -3'

Sequencing Primer
(F):5'- CACAGTAGGAAATGGCCA -3'
(R):5'- CTCATTCATTCAGTGGCTCAATTAG -3'
Posted On 2018-05-04