Incidental Mutation 'R9120:Or5p6'
ID 692730
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 068923-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R9120 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 107630502-107633174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107630887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 221 (Y221C)
Ref Sequence ENSEMBL: ENSMUSP00000147713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049719] [ENSMUST00000210173]
AlphaFold Q8VG04
Predicted Effect probably damaging
Transcript: ENSMUST00000049719
AA Change: Y221C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058931
Gene: ENSMUSG00000094426
AA Change: Y221C

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1.1e-54 PFAM
Pfam:7tm_1 44 293 1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210173
AA Change: Y221C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (54/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,209,141 (GRCm39) probably benign Het
Adgrb2 A G 4: 129,906,302 (GRCm39) N910S possibly damaging Het
Arhgap24 A T 5: 103,040,016 (GRCm39) I411F probably benign Het
BC030500 T A 8: 59,365,911 (GRCm39) L15Q unknown Het
BC051665 A G 13: 60,932,916 (GRCm39) V15A probably benign Het
Bicc1 T C 10: 70,776,862 (GRCm39) D732G probably damaging Het
Bpifb1 A G 2: 154,046,692 (GRCm39) I71V probably benign Het
Btnl1 A T 17: 34,598,681 (GRCm39) Q99L possibly damaging Het
Castor1 T A 11: 4,170,767 (GRCm39) V196D possibly damaging Het
Col9a2 G T 4: 120,900,951 (GRCm39) probably benign Het
D7Ertd443e T A 7: 133,871,986 (GRCm39) D625V probably damaging Het
Dchs2 A T 3: 83,187,535 (GRCm39) D1327V probably damaging Het
Ddx1 A G 12: 13,275,458 (GRCm39) V543A possibly damaging Het
Dgkz G T 2: 91,768,545 (GRCm39) D714E probably benign Het
Dlk1 A G 12: 109,424,051 (GRCm39) D105G probably benign Het
Fndc3a A G 14: 72,802,133 (GRCm39) F557L probably benign Het
Gm28042 C T 2: 119,869,462 (GRCm39) L609F probably damaging Het
Gsap A G 5: 21,458,434 (GRCm39) I473V probably damaging Het
Jag1 A T 2: 136,930,354 (GRCm39) M730K probably benign Het
Kazald1 A T 19: 45,065,211 (GRCm39) T31S probably benign Het
Ldhb A G 6: 142,439,935 (GRCm39) W202R probably damaging Het
Lrrcc1 C T 3: 14,615,489 (GRCm39) Q528* probably null Het
Magi2 A T 5: 20,733,305 (GRCm39) K525I possibly damaging Het
Map2 A G 1: 66,453,218 (GRCm39) I703V probably damaging Het
Mdn1 A T 4: 32,701,814 (GRCm39) M1516L probably damaging Het
Mpzl2 T A 9: 44,958,583 (GRCm39) S186R probably benign Het
Mtif2 T C 11: 29,483,951 (GRCm39) M208T probably benign Het
Myo3a T C 2: 22,436,464 (GRCm39) V873A probably benign Het
Or10ac1 A C 6: 42,515,583 (GRCm39) Y124* probably null Het
Or1j4 T A 2: 36,740,143 (GRCm39) Y28* probably null Het
Or5d38 A G 2: 87,955,123 (GRCm39) S69P probably damaging Het
Or8g51 A G 9: 38,608,735 (GRCm39) F309S probably benign Het
Pgap4 A G 4: 49,587,093 (GRCm39) V25A probably benign Het
Plod2 G T 9: 92,424,380 (GRCm39) probably benign Het
Rgs14 A C 13: 55,528,792 (GRCm39) D311A probably damaging Het
Rin1 C A 19: 5,103,048 (GRCm39) P446T probably damaging Het
Ripor3 T C 2: 167,822,835 (GRCm39) K909E possibly damaging Het
Rnf139 T C 15: 58,771,685 (GRCm39) L570P probably damaging Het
Snx17 A G 5: 31,355,026 (GRCm39) E347G probably damaging Het
Spaca1 A G 4: 34,029,168 (GRCm39) S220P probably damaging Het
Spen G T 4: 141,200,233 (GRCm39) T2798K Het
Tacc1 G T 8: 25,659,255 (GRCm39) S570R probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Trim63 G A 4: 134,055,003 (GRCm39) probably benign Het
Trmt2a C A 16: 18,067,722 (GRCm39) R132S probably damaging Het
Ttn T C 2: 76,768,716 (GRCm39) E2952G unknown Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn1r211 A T 13: 23,035,936 (GRCm39) F244I probably damaging Het
Vmn2r86 T G 10: 130,289,677 (GRCm39) S73R probably benign Het
Wdr27 A G 17: 15,152,846 (GRCm39) L87P probably damaging Het
Zfp148 A G 16: 33,317,596 (GRCm39) N756S probably benign Het
Zfp57 G A 17: 37,320,650 (GRCm39) R168H 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
R4274:Or5p6 UTSW 7 107,630,751 (GRCm39) missense probably benign 0.01
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
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'- CACCACCTTGTTCTGGTCAGTG -3'
(R):5'- CACAAGTCTGTGTCCAATTGC -3'

Sequencing Primer
(F):5'- TCAGTGGAGAAGCTGGACTTG -3'
(R):5'- CATAGGTGGTTTTCTTAACACATGG -3'
Posted On 2021-12-30