Incidental Mutation 'R4274:Or5p6'
ID 324707
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 041077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4274 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 107630502-107633174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 107630751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 266 (K266N)
Ref Sequence ENSEMBL: ENSMUSP00000147713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049719] [ENSMUST00000210173]
AlphaFold Q8VG04
Predicted Effect probably benign
Transcript: ENSMUST00000049719
AA Change: K266N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000058931
Gene: ENSMUSG00000094426
AA Change: K266N

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1.1e-54 PFAM
Pfam:7tm_1 44 293 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210173
AA Change: K266N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (55/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,980,930 (GRCm39) Y36C probably damaging Het
Abcc4 T C 14: 118,867,034 (GRCm39) R228G probably damaging Het
Acap2 A T 16: 30,926,932 (GRCm39) S528T probably benign Het
Adamts6 T A 13: 104,450,787 (GRCm39) D323E possibly damaging Het
Ano8 G T 8: 71,931,385 (GRCm39) probably benign Het
Ano9 T G 7: 140,690,608 (GRCm39) Q48P probably benign Het
Atp13a1 T G 8: 70,257,942 (GRCm39) L899R probably benign Het
Card10 G A 15: 78,664,714 (GRCm39) R747W probably damaging Het
Csn1s1 T C 5: 87,828,820 (GRCm39) *295R probably null Het
Dhx9 A G 1: 153,344,672 (GRCm39) I505T probably damaging Het
Dnajc17 A T 2: 119,016,866 (GRCm39) S37T probably benign Het
Dot1l T A 10: 80,619,822 (GRCm39) probably null Het
Dph7 A G 2: 24,853,512 (GRCm39) N109S possibly damaging Het
Ednra C T 8: 78,446,931 (GRCm39) G49D probably benign Het
Fam83g T C 11: 61,592,554 (GRCm39) M259T probably damaging Het
Fer1l4 A T 2: 155,862,464 (GRCm39) D1736E probably damaging Het
Fetub T C 16: 22,754,429 (GRCm39) I212T probably damaging Het
Foxc2 C A 8: 121,844,439 (GRCm39) S362R probably benign Het
Gm8444 A G 15: 81,727,734 (GRCm39) probably benign Het
Gpank1 G A 17: 35,343,245 (GRCm39) E242K probably benign Het
Hps4 G A 5: 112,522,896 (GRCm39) probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ighv1-20 A T 12: 114,687,819 (GRCm39) W3R probably damaging Het
Kcnq1 T C 7: 142,738,179 (GRCm39) I209T probably damaging Het
Me3 A T 7: 89,455,934 (GRCm39) E262V probably damaging Het
Mei1 G A 15: 82,009,064 (GRCm39) R1233Q possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgprx3-ps T C 7: 46,959,574 (GRCm39) noncoding transcript Het
Or4k37 A T 2: 111,159,160 (GRCm39) Y132F probably damaging Het
Or8a1b A T 9: 37,623,364 (GRCm39) D70E probably damaging Het
Ostm1 T C 10: 42,574,230 (GRCm39) F153L probably damaging Het
Pkd1l3 C T 8: 110,350,751 (GRCm39) T532I possibly damaging Het
Prpf40a G A 2: 53,036,184 (GRCm39) H624Y probably damaging Het
Rtn2 T C 7: 19,021,249 (GRCm39) S210P probably benign Het
Siglec1 T C 2: 130,927,734 (GRCm39) Q24R probably benign Het
Smurf1 T C 5: 144,833,585 (GRCm39) probably benign Het
Ssr1 G A 13: 38,169,266 (GRCm39) L225F possibly damaging Het
Tlr6 A G 5: 65,110,981 (GRCm39) I642T probably benign Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Tnrc18 T C 5: 142,729,405 (GRCm39) K1674R unknown Het
Tns1 T A 1: 73,967,257 (GRCm39) Y1115F probably damaging Het
Trim56 T A 5: 137,142,541 (GRCm39) E325V probably damaging Het
Ttn T C 2: 76,606,318 (GRCm39) T18164A possibly damaging Het
Ugt2a3 A T 5: 87,475,548 (GRCm39) D361E probably damaging Het
Vmn2r125 T C 4: 156,702,382 (GRCm39) I56T probably benign Het
Xkr5 T A 8: 18,984,183 (GRCm39) H453L probably benign Het
Zcchc7 C T 4: 44,931,335 (GRCm39) H496Y possibly damaging Het
Zfp82 C T 7: 29,755,792 (GRCm39) R430H probably damaging Het
Zscan22 T C 7: 12,640,251 (GRCm39) V6A probably benign 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
R5164:Or5p6 UTSW 7 107,631,487 (GRCm39) missense possibly damaging 0.47
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'- TTTGGTATGCTCCTACAATGGC -3'
(R):5'- AGTGTCCCTGCAACTGTTCC -3'

Sequencing Primer
(F):5'- TGGCACATCCCACAGAAC -3'
(R):5'- ACAGCTGGATCCATCATTGTTG -3'
Posted On 2015-06-24