Incidental Mutation 'R4289:Or4f47'
ID 322313
Institutional Source Beutler Lab
Gene Symbol Or4f47
Ensembl Gene ENSMUSG00000050776
Gene Name olfactory receptor family 4 subfamily F member 47
Synonyms Olfr1317, GA_x6K02T2Q125-73188162-73189112, MOR245-4
MMRRC Submission 041654-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R4289 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111972292-111973242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111972319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 10 (S10T)
Ref Sequence ENSEMBL: ENSMUSP00000149091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060098] [ENSMUST00000214801] [ENSMUST00000216988]
AlphaFold Q8VF84
Predicted Effect probably benign
Transcript: ENSMUST00000060098
AA Change: S10T

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058587
Gene: ENSMUSG00000050776
AA Change: S10T

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 5.1e-40 PFAM
Pfam:7tm_1 41 287 5.2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213693
Predicted Effect probably benign
Transcript: ENSMUST00000214801
AA Change: S10T

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000216988
AA Change: S10T

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.1316 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (56/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a C T 3: 32,766,263 (GRCm39) T39M possibly damaging Het
Arhgdib T C 6: 136,901,156 (GRCm39) N191S probably benign Het
Arhgef39 A G 4: 43,497,353 (GRCm39) probably benign Het
Baz1a G A 12: 54,947,233 (GRCm39) R1139C probably damaging Het
Cdhr5 A T 7: 140,852,752 (GRCm39) I78N probably damaging Het
Cfap97 T A 8: 46,645,698 (GRCm39) N525K probably benign Het
Cntn2 T A 1: 132,455,481 (GRCm39) Y252F probably benign Het
Cyp3a57 G A 5: 145,286,207 (GRCm39) G48S probably damaging Het
Cyp4v3 A C 8: 45,781,260 (GRCm39) F73V possibly damaging Het
Ear10 T C 14: 44,160,404 (GRCm39) D141G probably benign Het
Fbn2 T C 18: 58,168,411 (GRCm39) I2309V probably damaging Het
Fcrl5 A G 3: 87,349,531 (GRCm39) D102G probably benign Het
Fdxacb1 A T 9: 50,683,879 (GRCm39) Q614L probably damaging Het
Gm10267 T C 18: 44,290,331 (GRCm39) T59A probably damaging Het
Gm5581 C T 6: 131,144,519 (GRCm39) noncoding transcript Het
Gm5592 G T 7: 40,808,336 (GRCm39) probably benign Het
Gtf2a1l A G 17: 89,001,884 (GRCm39) T200A probably damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ift122 T C 6: 115,900,852 (GRCm39) C1057R probably damaging Het
Kirrel3 A T 9: 34,934,769 (GRCm39) N73I probably benign Het
Kndc1 A G 7: 139,490,798 (GRCm39) I433M probably benign Het
Mks1 T C 11: 87,747,530 (GRCm39) probably benign Het
Mmp14 A T 14: 54,673,665 (GRCm39) K110* probably null Het
Mms19 A G 19: 41,933,992 (GRCm39) L938P probably damaging Het
Mrpl36 A T 13: 73,479,777 (GRCm39) probably null Het
Mypn T C 10: 62,966,961 (GRCm39) E905G probably damaging Het
Ncam1 G T 9: 49,468,472 (GRCm39) T329N probably damaging Het
Nfkbie T C 17: 45,869,516 (GRCm39) L157P probably damaging Het
Or14c45 T A 7: 86,176,262 (GRCm39) I99N probably damaging Het
Pappa C T 4: 65,074,100 (GRCm39) A218V probably benign Het
Plekhg5 T C 4: 152,196,884 (GRCm39) Y737H probably benign Het
Plod2 G A 9: 92,485,041 (GRCm39) R514Q possibly damaging Het
Plxnb1 C T 9: 108,943,420 (GRCm39) R1888W probably damaging Het
Prss45 A G 9: 110,669,997 (GRCm39) T269A probably benign Het
Ptpn13 A G 5: 103,681,151 (GRCm39) T784A probably damaging Het
Pycr3 T C 15: 75,790,655 (GRCm39) N68S probably benign Het
Rbis T C 3: 14,674,714 (GRCm39) M1V probably null Het
Rdh14 A T 12: 10,444,949 (GRCm39) N267Y probably benign Het
Rph3a G A 5: 121,111,368 (GRCm39) R71C probably damaging Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Spata13 T A 14: 60,928,523 (GRCm39) V27E probably damaging Het
Tbc1d1 T A 5: 64,417,771 (GRCm39) S312T probably damaging Het
Tcp11l2 T C 10: 84,440,937 (GRCm39) probably null Het
Trdn C T 10: 33,340,578 (GRCm39) S604L probably benign Het
Ttn T C 2: 76,640,742 (GRCm39) T13669A probably benign Het
Tyw3 A T 3: 154,302,645 (GRCm39) F30I probably damaging Het
Vmn1r227 G T 17: 20,956,092 (GRCm39) noncoding transcript Het
Vmn2r74 C T 7: 85,606,562 (GRCm39) M261I probably benign Het
Zfp217 C T 2: 169,956,707 (GRCm39) G764S probably benign Het
Zfp267 A G 3: 36,213,747 (GRCm39) N27S possibly damaging Het
Zfp748 T A 13: 67,689,202 (GRCm39) H686L probably damaging Het
Other mutations in Or4f47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03294:Or4f47 APN 2 111,972,518 (GRCm39) missense probably benign 0.12
R1390:Or4f47 UTSW 2 111,972,952 (GRCm39) missense probably benign 0.35
R1404:Or4f47 UTSW 2 111,972,968 (GRCm39) missense probably benign 0.01
R1404:Or4f47 UTSW 2 111,972,968 (GRCm39) missense probably benign 0.01
R1771:Or4f47 UTSW 2 111,973,065 (GRCm39) nonsense probably null
R3500:Or4f47 UTSW 2 111,972,472 (GRCm39) missense possibly damaging 0.64
R3894:Or4f47 UTSW 2 111,972,359 (GRCm39) missense probably benign 0.04
R5646:Or4f47 UTSW 2 111,973,028 (GRCm39) missense possibly damaging 0.95
R6336:Or4f47 UTSW 2 111,972,751 (GRCm39) missense probably benign 0.10
R6439:Or4f47 UTSW 2 111,972,509 (GRCm39) missense probably benign 0.03
R6450:Or4f47 UTSW 2 111,972,725 (GRCm39) nonsense probably null
R6737:Or4f47 UTSW 2 111,972,548 (GRCm39) missense probably damaging 1.00
R7269:Or4f47 UTSW 2 111,972,905 (GRCm39) missense probably damaging 1.00
R7336:Or4f47 UTSW 2 111,972,514 (GRCm39) missense possibly damaging 0.80
R7597:Or4f47 UTSW 2 111,972,925 (GRCm39) missense probably benign 0.05
R8088:Or4f47 UTSW 2 111,972,602 (GRCm39) missense probably benign 0.45
R8119:Or4f47 UTSW 2 111,972,908 (GRCm39) missense probably damaging 1.00
R8351:Or4f47 UTSW 2 111,972,406 (GRCm39) missense probably benign 0.00
R8451:Or4f47 UTSW 2 111,972,406 (GRCm39) missense probably benign 0.00
R9207:Or4f47 UTSW 2 111,972,397 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- TACCACTGTAAAACACCAGGTTG -3'
(R):5'- ACTTTGTGCTTCCTGAAGAGG -3'

Sequencing Primer
(F):5'- CACTGTAAAACACCAGGTTGTTTTAG -3'
(R):5'- TGCTGGACACACCTGTATCAATG -3'
Posted On 2015-06-20