Incidental Mutation 'R6848:Or5d47'
ID 534845
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 045022-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R6848 (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 T at 87804514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 165 (V165E)
Ref Sequence ENSEMBL: ENSMUSP00000097428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099840]
AlphaFold A2BHP6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099840
AA Change: V165E

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097428
Gene: ENSMUSG00000075142
AA Change: V165E

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 5.4e-47 PFAM
Pfam:7tm_1 42 291 2e-17 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,775,487 (GRCm39) N290S probably damaging Het
Acox3 G T 5: 35,749,528 (GRCm39) G218C probably damaging Het
Acsf3 G A 8: 123,517,329 (GRCm39) G375D probably damaging Het
Adamts9 G T 6: 92,840,335 (GRCm39) N568K possibly damaging Het
Akr1cl G A 1: 65,063,928 (GRCm39) T87I probably damaging Het
Brcc3dc A T 10: 108,535,451 (GRCm39) V168E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Casp16 A T 17: 23,770,053 (GRCm39) C175* probably null Het
Cast T C 13: 74,844,052 (GRCm39) K694R possibly damaging Het
Cep70 G A 9: 99,144,954 (GRCm39) R100H probably benign Het
Cep72 C T 13: 74,186,395 (GRCm39) A259T possibly damaging Het
Chsy1 T A 7: 65,820,785 (GRCm39) M340K probably damaging Het
Col27a1 T C 4: 63,220,608 (GRCm39) S182P probably benign Het
Crlf2 A C 5: 109,704,897 (GRCm39) F103V possibly damaging Het
Dync2h1 T C 9: 7,159,632 (GRCm39) N652S probably benign Het
Ephx4 G A 5: 107,574,784 (GRCm39) G274D probably damaging Het
Fer T A 17: 64,298,601 (GRCm39) F517I probably damaging Het
Fsip2 A T 2: 82,813,131 (GRCm39) H3150L probably benign Het
Gata3 T A 2: 9,863,339 (GRCm39) N392Y possibly damaging Het
Gria4 C T 9: 4,793,822 (GRCm39) V79M probably damaging Het
Grk3 A C 5: 113,133,641 (GRCm39) N60K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igf1r T G 7: 67,653,927 (GRCm39) I155R probably damaging Het
Igsf9 T C 1: 172,323,329 (GRCm39) L681P probably damaging Het
Intu T C 3: 40,648,685 (GRCm39) M789T probably benign Het
Kit A T 5: 75,767,872 (GRCm39) Q85L probably benign Het
Klhdc2 T A 12: 69,355,750 (GRCm39) C325* probably null Het
Mcidas A G 13: 113,130,419 (GRCm39) E5G probably benign Het
Mcm5 G T 8: 75,853,918 (GRCm39) R724L possibly damaging Het
Nrbp2 G A 15: 75,963,332 (GRCm39) probably benign Het
Nrg1 A G 8: 32,308,084 (GRCm39) I655T probably damaging Het
Nsun4 T C 4: 115,910,131 (GRCm39) D143G possibly damaging Het
Opn3 C T 1: 175,490,615 (GRCm39) V349M probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or6d14 T C 6: 116,533,736 (GRCm39) S117P probably damaging Het
Pank2 C A 2: 131,124,546 (GRCm39) L297I probably damaging Het
Pcdh20 T A 14: 88,704,690 (GRCm39) E870V probably benign Het
Pdcd6 T A 13: 74,457,959 (GRCm39) M71L possibly damaging Het
Phkb A T 8: 86,756,246 (GRCm39) I847F probably damaging Het
Psmb1 A G 17: 15,697,509 (GRCm39) F202S probably benign Het
Pwp2 C G 10: 78,020,127 (GRCm39) probably null Het
Rbms3 A G 9: 117,080,809 (GRCm39) Y21H probably damaging Het
Rhbdl1 T A 17: 26,055,158 (GRCm39) K17* probably null Het
Rp1l1 C A 14: 64,265,667 (GRCm39) Q418K possibly damaging Het
Scpppq1 A G 5: 104,222,603 (GRCm39) probably benign Het
Slc22a4 A T 11: 53,898,615 (GRCm39) V159E possibly damaging Het
Spata31d1a T C 13: 59,849,777 (GRCm39) T784A possibly damaging Het
Tll1 A G 8: 64,551,544 (GRCm39) M279T probably damaging Het
Tmem163 A T 1: 127,479,117 (GRCm39) V134D probably damaging Het
Top2b A G 14: 16,409,958 (GRCm38) N875S possibly damaging Het
Tpd52l1 T C 10: 31,208,853 (GRCm39) E205G probably benign Het
Tpsb2 T A 17: 25,586,802 (GRCm39) Y271* probably null Het
Ugt3a1 G A 15: 9,280,138 (GRCm39) probably null Het
Vmn2r67 T C 7: 84,801,840 (GRCm39) M154V probably benign Het
Zfp740 T G 15: 102,117,243 (GRCm39) I89S probably benign 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
R8422:Or5d47 UTSW 2 87,804,143 (GRCm39) missense probably benign
R8822:Or5d47 UTSW 2 87,804,785 (GRCm39) missense possibly damaging 0.83
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'- TGGAGAAAGCCTTACGACGC -3'
(R):5'- GTGTCTTTGTAGTAACTGAAGCC -3'

Sequencing Primer
(F):5'- CTGGCTGAACGCATCTTAAGGAC -3'
(R):5'- AGTAACTGAAGCCTTTTTATTAGTGG -3'
Posted On 2018-09-12