Incidental Mutation 'R5637:Or4f52'
ID 440411
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5637 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111061198-111063738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111061456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 227 (K227N)
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 benign
Transcript: ENSMUST00000099620
AA Change: K227N

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097215
Gene: ENSMUSG00000074966
AA Change: K227N

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 9.8e-37 PFAM
Pfam:7tm_1 41 287 5.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216421
AA Change: K227N

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000217539
AA Change: K227N

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd T C 1: 127,694,050 (GRCm39) F327L probably damaging Het
Adgrl3 C A 5: 81,841,391 (GRCm39) S824Y probably damaging Het
Arfip2 A G 7: 105,286,370 (GRCm39) M144T probably damaging Het
Arhgap32 A G 9: 32,158,502 (GRCm39) N179S probably damaging Het
Ash2l T C 8: 26,317,339 (GRCm39) Y249C probably damaging Het
Ccndbp1 A G 2: 120,842,165 (GRCm39) T141A probably benign Het
Cd177 T A 7: 24,455,748 (GRCm39) H258L probably benign Het
Celsr3 T C 9: 108,714,332 (GRCm39) W1956R probably damaging Het
Cep295 T C 9: 15,245,108 (GRCm39) probably null Het
Cngb1 T C 8: 95,984,549 (GRCm39) H420R probably damaging Het
Cobl C T 11: 12,246,531 (GRCm39) probably benign Het
Cobll1 T C 2: 64,956,247 (GRCm39) D337G possibly damaging Het
Dmrta1 A G 4: 89,577,068 (GRCm39) N175D probably benign Het
Dnah7b G T 1: 46,395,674 (GRCm39) V3859L possibly damaging Het
Dnah7c A G 1: 46,799,521 (GRCm39) probably null Het
Dusp4 C A 8: 35,284,451 (GRCm39) H255Q probably damaging Het
Evx1 T C 6: 52,292,751 (GRCm39) V134A possibly damaging Het
F12 T C 13: 55,570,228 (GRCm39) K93E possibly damaging Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fcgbpl1 A G 7: 27,852,277 (GRCm39) N1267D probably benign Het
Frem2 A G 3: 53,560,358 (GRCm39) I1383T probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gpr158 A G 2: 21,788,083 (GRCm39) I575V probably benign Het
Hdc A G 2: 126,458,109 (GRCm39) V71A probably benign Het
Helb G A 10: 119,941,353 (GRCm39) T445M probably benign Het
Inppl1 A T 7: 101,478,055 (GRCm39) S652R probably benign Het
Itpripl1 T C 2: 126,984,044 (GRCm39) D26G probably damaging Het
Klc1 T A 12: 111,740,842 (GRCm39) L106H probably damaging Het
Klhl25 T A 7: 75,515,540 (GRCm39) probably null Het
Krt6a T C 15: 101,600,714 (GRCm39) D318G probably benign Het
Lrp2 T C 2: 69,302,762 (GRCm39) N2989S probably damaging Het
Lta4h A G 10: 93,304,731 (GRCm39) probably null Het
Man1c1 A G 4: 134,318,735 (GRCm39) S251P probably damaging Het
Mapre2 T C 18: 23,886,919 (GRCm39) probably benign Het
Mfap3l A T 8: 61,109,821 (GRCm39) I66F probably damaging Het
Mvk A G 5: 114,594,003 (GRCm39) E286G possibly damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or14a260 G A 7: 85,984,812 (GRCm39) T264I probably benign Het
Or7d11 A T 9: 19,966,279 (GRCm39) V160D possibly damaging Het
Pcdh9 A G 14: 94,123,198 (GRCm39) F991L possibly damaging Het
Pcdha9 T C 18: 37,131,426 (GRCm39) V165A probably benign Het
Pcsk6 A G 7: 65,618,745 (GRCm39) H437R probably damaging Het
Pfas C T 11: 68,884,149 (GRCm39) V589M probably damaging Het
Prpf40a A G 2: 53,046,746 (GRCm39) V288A possibly damaging Het
Rnf183 T C 4: 62,346,387 (GRCm39) D137G probably benign Het
Rsph6a A G 7: 18,788,820 (GRCm39) S51G probably benign Het
Scap G A 9: 110,210,640 (GRCm39) A991T possibly damaging Het
Sdk2 C A 11: 113,724,005 (GRCm39) V1222F probably damaging Het
Sdr16c6 T A 4: 4,063,232 (GRCm39) N181I possibly damaging Het
Semp2l2a A T 8: 13,887,713 (GRCm39) M126K possibly damaging Het
Serpinb7 A T 1: 107,356,037 (GRCm39) D20V probably damaging Het
Sh3bp2 C A 5: 34,718,392 (GRCm39) R531S possibly damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Sox2 A G 3: 34,704,677 (GRCm39) N38S probably benign Het
Spg7 C A 8: 123,821,314 (GRCm39) Q680K possibly damaging Het
Styk1 T C 6: 131,277,381 (GRCm39) E331G possibly damaging Het
Tkfc G A 19: 10,571,897 (GRCm39) R380W probably benign Het
Trib3 A G 2: 152,180,410 (GRCm39) F261S probably damaging Het
Ubr1 T A 2: 120,793,998 (GRCm39) Q62L possibly damaging Het
Vmn2r54 T C 7: 12,349,296 (GRCm39) Y762C probably benign Het
Vmn2r97 T A 17: 19,167,628 (GRCm39) Y627* probably null Het
Zfp12 A G 5: 143,231,451 (GRCm39) K625E probably damaging Het
Zw10 T C 9: 48,968,950 (GRCm39) V38A probably damaging 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
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
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'- CAGGGTTCAGGATGGGTATAATC -3'
(R):5'- TGGTCTCATTCATTCAGTGGC -3'

Sequencing Primer
(F):5'- TCAGGATGGGTATAATCATGAAGTCC -3'
(R):5'- CTCATTCATTCAGTGGCTCAATTAG -3'
Posted On 2016-11-08