Incidental Mutation 'R1015:Or5d47'
ID 96104
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 039119-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R1015 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 87804051-87805007 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87804431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 193 (T193A)
Ref Sequence ENSEMBL: ENSMUSP00000097428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099840]
AlphaFold A2BHP6
Predicted Effect probably benign
Transcript: ENSMUST00000099840
AA Change: T193A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097428
Gene: ENSMUSG00000075142
AA Change: T193A

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 5.4e-47 PFAM
Pfam:7tm_1 42 291 2e-17 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.4%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3d1 A G 10: 80,552,323 (GRCm39) V615A probably damaging Het
Atp6v1d A G 12: 78,896,543 (GRCm39) V108A possibly damaging Het
B3gnt6 C A 7: 97,843,802 (GRCm39) V53L probably benign Het
C8b A G 4: 104,644,157 (GRCm39) K275E probably benign Het
Cage1 T A 13: 38,200,451 (GRCm39) N683I possibly damaging Het
Celsr3 T C 9: 108,710,375 (GRCm39) V1535A probably benign Het
Cep120 C T 18: 53,836,193 (GRCm39) probably null Het
Cep135 T C 5: 76,788,844 (GRCm39) probably null Het
Chd9 T A 8: 91,659,206 (GRCm39) H55Q probably damaging Het
Dmxl2 G A 9: 54,275,049 (GRCm39) T2915I probably benign Het
Eps8l1 A T 7: 4,472,932 (GRCm39) D118V probably damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Galnt2 C T 8: 125,063,356 (GRCm39) H359Y probably benign Het
Kdm5d T C Y: 941,687 (GRCm39) V1296A possibly damaging Het
Kif27 T A 13: 58,468,029 (GRCm39) K849N probably damaging Het
Kif5c T A 2: 49,634,377 (GRCm39) D736E probably benign Het
Krt18 T C 15: 101,939,735 (GRCm39) I311T probably benign Het
Lamc2 A T 1: 153,041,945 (GRCm39) V63D possibly damaging Het
Lmbrd1 T A 1: 24,770,959 (GRCm39) C295* probably null Het
Lrrc37 T C 11: 103,436,622 (GRCm39) H754R probably benign Het
Map3k14 T A 11: 103,116,126 (GRCm39) Q767H probably damaging Het
Mapkapk5 T C 5: 121,671,425 (GRCm39) K203E probably benign Het
Mcc C A 18: 44,857,736 (GRCm39) L126F probably benign Het
Mib1 T A 18: 10,726,409 (GRCm39) H35Q probably damaging Het
Myo16 A G 8: 10,440,183 (GRCm39) N412D probably benign Het
Ndst2 T C 14: 20,780,132 (GRCm39) Y36C probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nwd2 T C 5: 63,964,154 (GRCm39) I1246T probably damaging Het
Or5m9 T C 2: 85,877,426 (GRCm39) I200T possibly damaging Het
Patl1 T C 19: 11,897,737 (GRCm39) V108A probably benign Het
Pdzd2 T C 15: 12,374,594 (GRCm39) E1847G probably damaging Het
Pla2g2f C T 4: 138,481,579 (GRCm39) V57I probably benign Het
Prag1 T C 8: 36,613,697 (GRCm39) V1083A probably damaging Het
Slc3a2 C T 19: 8,685,319 (GRCm39) W227* probably null Het
Snx9 A G 17: 5,970,402 (GRCm39) I379M probably benign Het
Spata31e4 T G 13: 50,855,664 (GRCm39) V434G possibly damaging Het
Tacc2 A G 7: 130,225,795 (GRCm39) K846E probably benign Het
Taf4b T A 18: 14,946,155 (GRCm39) V326E probably damaging Het
Tnrc6c C T 11: 117,612,748 (GRCm39) S462F possibly damaging Het
Trim66 C T 7: 109,054,440 (GRCm39) V1257I probably damaging Het
Urb2 T C 8: 124,756,173 (GRCm39) Y627H probably damaging Het
Usp53 A G 3: 122,727,408 (GRCm39) L1058P probably benign Het
Wdr24 A G 17: 26,047,212 (GRCm39) S702G 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
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
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'- TGCACAGGTGGAGAAAGCCTTACG -3'
(R):5'- GCTGGTGAACCTTGTTGCAAAAGAC -3'

Sequencing Primer
(F):5'- GAGAAAGCCTTACGACGCC -3'
(R):5'- ACCGATTTGTGGCTATCTGTAAC -3'
Posted On 2014-01-05