Incidental Mutation 'R8822:Or5d47'
ID 673093
Institutional Source Beutler Lab
Gene Symbol Or5d47
Ensembl Gene ENSMUSG00000075142
Gene Name olfactory receptor family 5 subfamily D member 47
Synonyms GA_x6K02T2Q125-49458388-49457432, MOR174-4, mOR-EV, Olfr74
MMRRC Submission 068655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R8822 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87804051-87805007 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87804785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 75 (S75P)
Ref Sequence ENSEMBL: ENSMUSP00000097428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099840]
AlphaFold A2BHP6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099840
AA Change: S75P

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097428
Gene: ENSMUSG00000075142
AA Change: S75P

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 5.4e-47 PFAM
Pfam:7tm_1 42 291 2e-17 PFAM
Meta Mutation Damage Score 0.3293 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb1 T C 19: 56,711,849 (GRCm39) V349A probably damaging Het
Atp2a2 A G 5: 122,629,772 (GRCm39) V99A possibly damaging Het
Bank1 T A 3: 135,809,640 (GRCm39) D418V possibly damaging Het
Cacna1d A G 14: 29,900,692 (GRCm39) V331A probably benign Het
Cd28 A T 1: 60,808,820 (GRCm39) N178I possibly damaging Het
Cdcp3 A T 7: 130,843,706 (GRCm39) probably null Het
Ceacam12 T C 7: 17,803,378 (GRCm39) probably benign Het
Cfap54 G A 10: 92,875,003 (GRCm39) A494V probably benign Het
Chpt1 A G 10: 88,324,268 (GRCm39) V180A probably damaging Het
Cplane1 T C 15: 8,201,262 (GRCm39) I13T probably damaging Het
Cplx3 A G 9: 57,514,471 (GRCm39) V493A probably benign Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Fam151a A T 4: 106,602,842 (GRCm39) M254L probably benign Het
Fyco1 A T 9: 123,648,184 (GRCm39) I1250N probably damaging Het
Gm6685 T G 11: 28,289,768 (GRCm39) Q16P probably benign Het
Gpr26 A G 7: 131,568,997 (GRCm39) Y114C probably damaging Het
Helb A T 10: 119,941,389 (GRCm39) V433D probably benign Het
Hps3 A G 3: 20,057,391 (GRCm39) W930R probably benign Het
Igdcc4 C T 9: 65,031,298 (GRCm39) T412I possibly damaging Het
Klhl35 T C 7: 99,122,055 (GRCm39) V485A probably benign Het
Lmo7 A G 14: 102,121,610 (GRCm39) D225G probably damaging Het
Myo15a C T 11: 60,367,740 (GRCm39) R167C probably damaging Het
Obp2a A T 2: 25,590,188 (GRCm39) D29V probably damaging Het
Or10d3 C A 9: 39,461,812 (GRCm39) M118I probably benign Het
Or13a22 A G 7: 140,072,926 (GRCm39) Y125C possibly damaging Het
Or52b2 A G 7: 104,986,809 (GRCm39) V38A probably benign Het
Or8g4 A G 9: 39,661,700 (GRCm39) Y6C probably benign Het
Pde6b A G 5: 108,551,328 (GRCm39) E204G probably benign Het
Pkd1 T C 17: 24,784,615 (GRCm39) V387A probably benign Het
Pkd1l1 A T 11: 8,806,312 (GRCm39) I2054K Het
Pkp1 T A 1: 135,807,661 (GRCm39) M536L probably benign Het
Platr25 T C 13: 62,848,658 (GRCm39) E68G probably benign Het
Plxna4 T C 6: 32,127,431 (GRCm39) D1892G possibly damaging Het
Pramel30 A G 4: 144,057,092 (GRCm39) K92E probably benign Het
Prr12 A G 7: 44,699,763 (GRCm39) L76P unknown Het
Ptprz1 T A 6: 23,002,588 (GRCm39) N1559K probably damaging Het
Rbl2 A T 8: 91,833,346 (GRCm39) N750I possibly damaging Het
Rhpn2 A T 7: 35,090,228 (GRCm39) M617L probably benign Het
Rprd2 A G 3: 95,691,613 (GRCm39) S221P probably damaging Het
S100a4 T C 3: 90,512,358 (GRCm39) S14P probably benign Het
Samd11 A T 4: 156,336,764 (GRCm39) L25Q probably damaging Het
Sash1 G A 10: 8,761,615 (GRCm39) probably benign Het
Scn9a A G 2: 66,370,979 (GRCm39) S534P probably damaging Het
Sec31b C A 19: 44,507,702 (GRCm39) V781F probably benign Het
Setd1a C T 7: 127,385,332 (GRCm39) L680F possibly damaging Het
Slc10a2 T G 8: 5,139,149 (GRCm39) Q265P probably damaging Het
Slc27a1 T A 8: 72,033,308 (GRCm39) D283E probably damaging Het
Slc38a4 G A 15: 96,906,952 (GRCm39) T262M probably benign Het
Slc52a3 T G 2: 151,846,513 (GRCm39) V158G probably benign Het
Snx16 T C 3: 10,484,125 (GRCm39) V64A probably benign Het
Stox1 A T 10: 62,499,900 (GRCm39) W887R probably damaging Het
Tcap G A 11: 98,275,264 (GRCm39) V133M probably benign Het
Ticam1 A G 17: 56,578,444 (GRCm39) L217P probably damaging Het
Tnfrsf12a T C 17: 23,895,188 (GRCm39) S87G probably benign Het
Tyr G A 7: 87,142,330 (GRCm39) R77C probably damaging Het
Uba6 A G 5: 86,294,932 (GRCm39) probably benign Het
Usp24 G A 4: 106,269,410 (GRCm39) V2107M probably benign Het
Wdr64 T C 1: 175,544,920 (GRCm39) S118P probably damaging Het
Zbtb21 G A 16: 97,752,516 (GRCm39) T589I probably damaging Het
Zfp263 G T 16: 3,562,004 (GRCm39) probably benign Het
Zfp318 A G 17: 46,723,831 (GRCm39) T1945A probably benign Het
Zfp644 G T 5: 106,783,087 (GRCm39) R1065S possibly damaging Het
Zfp668 A T 7: 127,466,315 (GRCm39) S290T probably damaging Het
Zfp808 T A 13: 62,320,869 (GRCm39) D699E probably damaging Het
Other mutations in Or5d47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:Or5d47 APN 2 87,804,895 (GRCm39) missense probably benign 0.27
IGL02119:Or5d47 APN 2 87,804,754 (GRCm39) missense probably benign 0.38
IGL02332:Or5d47 APN 2 87,804,409 (GRCm39) missense probably damaging 1.00
IGL02626:Or5d47 APN 2 87,804,068 (GRCm39) missense probably benign
IGL03022:Or5d47 APN 2 87,804,341 (GRCm39) missense probably benign 0.00
R1015:Or5d47 UTSW 2 87,804,431 (GRCm39) missense probably benign 0.03
R1908:Or5d47 UTSW 2 87,804,403 (GRCm39) missense possibly damaging 0.66
R2358:Or5d47 UTSW 2 87,804,066 (GRCm39) missense probably benign 0.02
R3711:Or5d47 UTSW 2 87,804,066 (GRCm39) missense probably benign 0.02
R4646:Or5d47 UTSW 2 87,804,142 (GRCm39) missense probably benign 0.18
R4807:Or5d47 UTSW 2 87,804,095 (GRCm39) missense probably benign 0.00
R5026:Or5d47 UTSW 2 87,804,364 (GRCm39) missense probably damaging 1.00
R5928:Or5d47 UTSW 2 87,804,380 (GRCm39) missense probably benign 0.06
R6010:Or5d47 UTSW 2 87,804,886 (GRCm39) missense probably damaging 0.98
R6243:Or5d47 UTSW 2 87,804,931 (GRCm39) missense probably benign 0.00
R6534:Or5d47 UTSW 2 87,804,385 (GRCm39) missense probably benign 0.00
R6848:Or5d47 UTSW 2 87,804,514 (GRCm39) missense possibly damaging 0.52
R8422:Or5d47 UTSW 2 87,804,143 (GRCm39) missense probably benign
R8824:Or5d47 UTSW 2 87,804,347 (GRCm39) missense probably benign 0.01
R9375:Or5d47 UTSW 2 87,804,526 (GRCm39) missense possibly damaging 0.89
R9523:Or5d47 UTSW 2 87,804,945 (GRCm39) nonsense probably null
R9665:Or5d47 UTSW 2 87,804,596 (GRCm39) missense possibly damaging 0.63
R9785:Or5d47 UTSW 2 87,804,245 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CAGAGTTTCTGGGACATGGC -3'
(R):5'- AGTGGGATTATTTTCACCCTCTTG -3'

Sequencing Primer
(F):5'- ACATGGCTACTGTGTAGAGC -3'
(R):5'- GGTCTTCTCAGATTATCCTGACC -3'
Posted On 2021-04-30