Incidental Mutation 'R5164:Or5p6'
ID 395596
Institutional Source Beutler Lab
Gene Symbol Or5p6
Ensembl Gene ENSMUSG00000094426
Gene Name olfactory receptor family 5 subfamily P member 6
Synonyms GA_x6K02T2PBJ9-10361879-10360935, Olfr478, MOR204-13
MMRRC Submission 042745-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R5164 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 107630502-107633174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107631487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 21 (T21I)
Ref Sequence ENSEMBL: ENSMUSP00000147713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049719] [ENSMUST00000210173]
AlphaFold Q8VG04
Predicted Effect possibly damaging
Transcript: ENSMUST00000049719
AA Change: T21I

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000058931
Gene: ENSMUSG00000094426
AA Change: T21I

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1.1e-54 PFAM
Pfam:7tm_1 44 293 1e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210173
AA Change: T21I

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.2913 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (49/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,583,793 (GRCm39) H4637Q probably benign Het
Akap6 A G 12: 53,189,249 (GRCm39) H2221R probably benign Het
Arsj A T 3: 126,231,808 (GRCm39) M185L probably benign Het
Ccdc177 T C 12: 80,805,336 (GRCm39) T313A unknown Het
Cdkal1 A T 13: 29,809,702 (GRCm39) L214H probably damaging Het
Cfap44 T A 16: 44,301,752 (GRCm39) I1830N probably damaging Het
Cfap65 T C 1: 74,965,675 (GRCm39) K445R probably damaging Het
Chrnb3 T A 8: 27,884,160 (GRCm39) I299N probably damaging Het
Cse1l C A 2: 166,786,348 (GRCm39) D826E probably benign Het
Cwf19l2 T C 9: 3,475,511 (GRCm39) V816A probably damaging Het
Dnah5 A T 15: 28,408,438 (GRCm39) E3474D probably benign Het
Dock5 A T 14: 68,055,110 (GRCm39) Y585* probably null Het
Ebf2 T C 14: 67,627,970 (GRCm39) S322P possibly damaging Het
Epha8 T C 4: 136,672,983 (GRCm39) E267G possibly damaging Het
Fkbp5 A G 17: 28,656,964 (GRCm39) probably null Het
Gbp4 T A 5: 105,284,743 (GRCm39) K49* probably null Het
Gramd4 A T 15: 85,985,032 (GRCm39) T98S probably benign Het
Hectd1 C A 12: 51,874,272 (GRCm39) M1I probably null Het
Hsd17b8 A G 17: 34,245,952 (GRCm39) probably benign Het
Hycc2 T C 1: 58,574,597 (GRCm39) T315A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Keg1 A G 19: 12,692,044 (GRCm39) probably benign Het
Lilra6 A T 7: 3,917,880 (GRCm39) V88E probably damaging Het
Mast1 A G 8: 85,640,147 (GRCm39) probably benign Het
Mdn1 A G 4: 32,759,011 (GRCm39) probably null Het
Nrdc C T 4: 108,896,914 (GRCm39) T511I probably damaging Het
Odad4 G A 11: 100,462,346 (GRCm39) W506* probably null Het
Or4c106 T A 2: 88,682,914 (GRCm39) L207I probably benign Het
Or8k24 T C 2: 86,215,815 (GRCm39) T316A probably benign Het
Pms1 A G 1: 53,246,799 (GRCm39) V301A probably damaging Het
Pnisr A T 4: 21,859,237 (GRCm39) Q144L possibly damaging Het
Pp2d1 G T 17: 53,815,098 (GRCm39) T542K probably benign Het
Ppargc1b A T 18: 61,435,715 (GRCm39) C922S probably damaging Het
Ptprd T C 4: 76,018,995 (GRCm39) probably null Het
Runx3 T C 4: 134,848,441 (GRCm39) S9P possibly damaging Het
Serpina1b A G 12: 103,698,346 (GRCm39) S168P probably benign Het
Slc14a2 G A 18: 78,200,487 (GRCm39) A722V probably damaging Het
Slc23a2 T A 2: 131,917,370 (GRCm39) probably benign Het
Slc47a1 A G 11: 61,243,886 (GRCm39) probably null Het
Tcf20 A G 15: 82,740,804 (GRCm39) S216P probably damaging Het
Tpst1 T A 5: 130,130,842 (GRCm39) I104N probably damaging Het
Ufm1 A C 3: 53,765,348 (GRCm39) probably benign Het
Unkl A G 17: 25,432,083 (GRCm39) probably null Het
Usf3 T C 16: 44,038,543 (GRCm39) S1008P probably damaging Het
Ythdf3 T C 3: 16,237,677 (GRCm39) V6A possibly damaging Het
Zc3h3 A T 15: 75,648,875 (GRCm39) S752R probably benign Het
Zfp268 T C 4: 145,348,775 (GRCm39) Y71H probably damaging Het
Other mutations in Or5p6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Or5p6 APN 7 107,630,887 (GRCm39) missense probably damaging 1.00
IGL01457:Or5p6 APN 7 107,631,328 (GRCm39) missense possibly damaging 0.90
IGL03156:Or5p6 APN 7 107,631,558 (GRCm39) utr 5 prime probably benign
IGL03271:Or5p6 APN 7 107,630,714 (GRCm39) missense probably damaging 0.96
IGL03399:Or5p6 APN 7 107,630,789 (GRCm39) missense probably benign 0.02
R0660:Or5p6 UTSW 7 107,630,822 (GRCm39) missense probably damaging 1.00
R0722:Or5p6 UTSW 7 107,631,541 (GRCm39) missense probably benign 0.00
R1468:Or5p6 UTSW 7 107,631,595 (GRCm39) splice site probably null
R1468:Or5p6 UTSW 7 107,631,595 (GRCm39) splice site probably null
R2172:Or5p6 UTSW 7 107,630,674 (GRCm39) missense probably damaging 1.00
R4274:Or5p6 UTSW 7 107,630,751 (GRCm39) missense probably benign 0.01
R5501:Or5p6 UTSW 7 107,631,360 (GRCm39) nonsense probably null
R7586:Or5p6 UTSW 7 107,631,128 (GRCm39) missense probably benign 0.00
R7846:Or5p6 UTSW 7 107,631,199 (GRCm39) missense probably benign 0.21
R8005:Or5p6 UTSW 7 107,631,470 (GRCm39) missense possibly damaging 0.54
R8444:Or5p6 UTSW 7 107,631,070 (GRCm39) missense probably benign
R9026:Or5p6 UTSW 7 107,631,286 (GRCm39) missense probably damaging 0.96
R9120:Or5p6 UTSW 7 107,630,887 (GRCm39) missense probably damaging 1.00
R9211:Or5p6 UTSW 7 107,630,798 (GRCm39) missense probably damaging 1.00
R9323:Or5p6 UTSW 7 107,631,230 (GRCm39) missense probably benign 0.00
R9487:Or5p6 UTSW 7 107,631,163 (GRCm39) missense possibly damaging 0.95
R9708:Or5p6 UTSW 7 107,631,259 (GRCm39) missense probably benign 0.09
Z1176:Or5p6 UTSW 7 107,630,653 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACAAGCATATTGGGTGTGAC -3'
(R):5'- AACATGGTTCCTGTTGTTCCAC -3'

Sequencing Primer
(F):5'- CAGAAGATGAGTAACCTATGTCAGC -3'
(R):5'- CTATAACAATGCATTGCACATAAACC -3'
Posted On 2016-06-21