Incidental Mutation 'R5026:Or5d47'
ID 391327
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 042617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R5026 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 87804051-87805007 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87804364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 215 (I215N)
Ref Sequence ENSEMBL: ENSMUSP00000097428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099840]
AlphaFold A2BHP6
Predicted Effect probably damaging
Transcript: ENSMUST00000099840
AA Change: I215N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097428
Gene: ENSMUSG00000075142
AA Change: I215N

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 5.4e-47 PFAM
Pfam:7tm_1 42 291 2e-17 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 90.7%
Validation Efficiency 96% (88/92)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,356,383 (GRCm39) N608S probably benign Het
Actg1 T C 11: 120,237,784 (GRCm39) N7S probably damaging Het
Adamtsl3 T A 7: 82,225,262 (GRCm39) L357Q probably benign Het
Ahnak A T 19: 8,987,995 (GRCm39) Q3093L possibly damaging Het
Ankrd16 T A 2: 11,794,692 (GRCm39) V359E probably benign Het
Ankrd40 T C 11: 94,230,550 (GRCm39) probably benign Het
Ano10 G A 9: 122,101,625 (GRCm39) Q49* probably null Het
Aoah A T 13: 21,099,129 (GRCm39) D236V probably damaging Het
Bin1 T C 18: 32,552,983 (GRCm39) probably null Het
Braf T C 6: 39,665,221 (GRCm39) D49G probably benign Het
Brsk1 A T 7: 4,707,265 (GRCm39) R273W probably damaging Het
C2cd3 T A 7: 100,109,049 (GRCm39) M2259K possibly damaging Het
Cabp1 T C 5: 115,313,531 (GRCm39) N43D possibly damaging Het
Ccar2 T A 14: 70,379,951 (GRCm39) Q412L possibly damaging Het
Cd4 T C 6: 124,843,583 (GRCm39) T443A possibly damaging Het
Cdh23 T A 10: 60,140,627 (GRCm39) I3206F possibly damaging Het
Ceacam9 A T 7: 16,459,122 (GRCm39) probably null Het
Chid1 T C 7: 141,093,749 (GRCm39) D289G probably damaging Het
Chmp6 T A 11: 119,809,469 (GRCm39) L196Q probably damaging Het
Cog8 A G 8: 107,775,757 (GRCm39) S536P probably benign Het
Dmxl2 A T 9: 54,323,960 (GRCm39) S1141R probably damaging Het
Dnah7a T G 1: 53,701,657 (GRCm39) Y166S probably damaging Het
Dnah7b G T 1: 46,226,523 (GRCm39) W1318L probably damaging Het
Ecd A G 14: 20,387,098 (GRCm39) F212S probably damaging Het
Entpd6 A T 2: 150,605,564 (GRCm39) S265C probably damaging Het
Epb41l2 A G 10: 25,360,206 (GRCm39) T523A possibly damaging Het
Focad T C 4: 88,262,819 (GRCm39) S939P unknown Het
Gjb3 A T 4: 127,220,280 (GRCm39) V84D probably damaging Het
Gm572 A T 4: 148,739,301 (GRCm39) E43V possibly damaging Het
Gm6185 T A 1: 161,052,178 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,201,522 (GRCm39) C787S probably damaging Het
Grpel2 A G 18: 61,849,024 (GRCm39) L162P probably damaging Het
Herc1 A G 9: 66,393,408 (GRCm39) T4096A probably benign Het
Hook3 A T 8: 26,600,785 (GRCm39) M41K probably damaging Het
Ifit1bl1 T C 19: 34,571,293 (GRCm39) Y388C probably damaging Het
Ighv3-4 A G 12: 114,217,382 (GRCm39) Y70H probably benign Het
Itm2c T C 1: 85,834,213 (GRCm39) L176P probably damaging Het
Lmtk3 G A 7: 45,443,836 (GRCm39) probably benign Het
Macf1 G A 4: 123,333,287 (GRCm39) T2376I possibly damaging Het
Map1a T G 2: 121,138,019 (GRCm39) S2660A possibly damaging Het
Mmrn2 A G 14: 34,121,158 (GRCm39) H676R probably benign Het
Nbeal1 A T 1: 60,276,338 (GRCm39) K693M probably damaging Het
Ndufa13 T A 8: 70,347,920 (GRCm39) R49* probably null Het
Neb T A 2: 52,094,892 (GRCm39) T1115S possibly damaging Het
Nvl C T 1: 180,932,720 (GRCm39) R699H probably damaging Het
Or10w1 A G 19: 13,632,296 (GRCm39) I163V probably benign Het
Or8b53 A G 9: 38,667,041 (GRCm39) D19G probably benign Het
Or8d2b A T 9: 38,789,195 (GRCm39) H241L possibly damaging Het
Piezo1 G T 8: 123,213,557 (GRCm39) D1779E probably benign Het
Prl8a9 A G 13: 27,745,560 (GRCm39) S77P probably damaging Het
Prune2 A T 19: 17,176,506 (GRCm39) I2904F probably damaging Het
Retreg1 T A 15: 25,970,214 (GRCm39) S151T probably damaging Het
Rnf213 A G 11: 119,327,590 (GRCm39) D1859G probably damaging Het
Rnf39 T C 17: 37,256,426 (GRCm39) F173L probably benign Het
Rspry1 T A 8: 95,376,931 (GRCm39) N371K probably damaging Het
Samd9l T A 6: 3,375,284 (GRCm39) D659V possibly damaging Het
Sez6 T A 11: 77,859,815 (GRCm39) F378Y probably damaging Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Slit2 A T 5: 48,414,147 (GRCm39) N917I probably damaging Het
Smg1 T A 7: 117,792,768 (GRCm39) probably benign Het
Tes T C 6: 17,096,339 (GRCm39) V24A probably benign Het
Tial1 C T 7: 128,050,120 (GRCm39) E82K probably damaging Het
Tmem94 G A 11: 115,683,930 (GRCm39) C750Y probably damaging Het
Tmppe T A 9: 114,234,887 (GRCm39) N395K possibly damaging Het
Tnn T C 1: 159,973,707 (GRCm39) H220R probably benign Het
Trappc10 T C 10: 78,040,122 (GRCm39) T610A possibly damaging Het
Trmt1l T A 1: 151,316,627 (GRCm39) M196K probably damaging Het
Trpv4 T C 5: 114,760,715 (GRCm39) *872W probably null Het
Ttn T C 2: 76,579,353 (GRCm39) T23847A probably benign Het
Ube4b T A 4: 149,445,022 (GRCm39) L440F probably damaging Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Unc13c T A 9: 73,838,185 (GRCm39) T889S possibly damaging Het
Vmn1r215 C T 13: 23,260,449 (GRCm39) T163I probably benign Het
Vmn2r16 T A 5: 109,508,722 (GRCm39) Y483* probably null Het
Wdr47 T A 3: 108,525,838 (GRCm39) C120* probably null Het
Zc3h6 G A 2: 128,859,229 (GRCm39) V1087I probably benign Het
Zfp423 T C 8: 88,507,302 (GRCm39) H889R probably damaging Het
Zfp825 G T 13: 74,629,196 (GRCm39) H107N probably benign Het
Zfp945 T C 17: 23,069,859 (GRCm39) H680R 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
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'- GGTTAAGCATGGGGATCACCAC -3'
(R):5'- ACATGTTCCTTGACACTGACG -3'

Sequencing Primer
(F):5'- ACAGAGCCCACTTTGACTGTGAG -3'
(R):5'- GACGTGTTCTACTGTGCAATTATC -3'
Posted On 2016-06-06