Incidental Mutation 'R6819:Or8g54'
ID 537522
Institutional Source Beutler Lab
Gene Symbol Or8g54
Ensembl Gene ENSMUSG00000094254
Gene Name olfactory receptor family 8 subfamily G member 54
Synonyms MOR171-7, Olfr969, GA_x6K02T2PVTD-33492981-33493916
MMRRC Submission 044931-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6819 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 39706673-39707608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39706905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 78 (I78N)
Ref Sequence ENSEMBL: ENSMUSP00000149551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074566] [ENSMUST00000213266]
AlphaFold Q8VG89
Predicted Effect probably benign
Transcript: ENSMUST00000074566
AA Change: I78N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000074151
Gene: ENSMUSG00000094254
AA Change: I78N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.2e-50 PFAM
Pfam:7tm_1 41 290 2.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213266
AA Change: I78N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C A 17: 24,506,767 (GRCm39) V1196L probably benign Het
Adal T A 2: 120,978,794 (GRCm39) I138N probably damaging Het
Arfgap1 T C 2: 180,613,478 (GRCm39) probably null Het
Boc T C 16: 44,313,188 (GRCm39) T559A probably damaging Het
Brip1 A G 11: 86,001,267 (GRCm39) V723A possibly damaging Het
Cnot10 A C 9: 114,444,123 (GRCm39) I424S probably benign Het
Cntnap4 T G 8: 113,529,858 (GRCm39) S689A probably benign Het
Cuzd1 A T 7: 130,911,460 (GRCm39) N506K possibly damaging Het
Dctn3 T A 4: 41,715,259 (GRCm39) T158S possibly damaging Het
Dnai2 A G 11: 114,635,917 (GRCm39) I301V probably benign Het
Ebpl G T 14: 61,578,695 (GRCm39) P180Q probably damaging Het
Epha5 T A 5: 84,254,649 (GRCm39) Y489F probably damaging Het
Frmd8 T C 19: 5,915,208 (GRCm39) N232S probably benign Het
Fuca1 T C 4: 135,660,267 (GRCm39) Y262H probably damaging Het
Gfy T C 7: 44,826,975 (GRCm39) I374V possibly damaging Het
Glg1 G A 8: 111,914,513 (GRCm39) R424C probably damaging Het
Ica1 G T 6: 8,742,288 (GRCm39) T115K probably damaging Het
Igf2bp2 T C 16: 21,879,586 (GRCm39) E511G probably damaging Het
Jag2 C A 12: 112,874,161 (GRCm39) R998L probably damaging Het
Kcnv1 G T 15: 44,972,513 (GRCm39) L457I probably damaging Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Ms4a8a T A 19: 11,053,743 (GRCm39) H121L probably damaging Het
Muc5b T A 7: 141,412,600 (GRCm39) S1849T unknown Het
Myo10 T C 15: 25,781,496 (GRCm39) V997A possibly damaging Het
Or10g3b A G 14: 52,587,156 (GRCm39) Y116H probably damaging Het
Or10g9b T A 9: 39,917,844 (GRCm39) M134L probably benign Het
Pate2 T A 9: 35,581,801 (GRCm39) C32S probably damaging Het
Per1 G T 11: 68,992,284 (GRCm39) Q179H probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Rbp2 T A 9: 98,391,614 (GRCm39) V130E probably damaging Het
Rictor T A 15: 6,825,517 (GRCm39) probably null Het
Rundc3a A T 11: 102,289,287 (GRCm39) R153* probably null Het
Scrn3 C T 2: 73,149,826 (GRCm39) A174V probably damaging Het
Serpina10 T A 12: 103,594,619 (GRCm39) Q200L probably benign Het
Slc25a51 A T 4: 45,399,365 (GRCm39) I275N possibly damaging Het
Spast C T 17: 74,674,281 (GRCm39) H238Y possibly damaging Het
Speg A T 1: 75,368,456 (GRCm39) I775F possibly damaging Het
Ssh1 G T 5: 114,084,851 (GRCm39) T463K probably benign Het
Tm2d3 A G 7: 65,347,526 (GRCm39) E151G probably damaging Het
Uggt2 A G 14: 119,263,847 (GRCm39) I1061T probably damaging Het
Unc79 T G 12: 103,108,267 (GRCm39) S1941A probably benign Het
Vcan T C 13: 89,853,244 (GRCm39) D572G probably benign Het
Vmn2r16 T G 5: 109,488,412 (GRCm39) S428R probably benign Het
Zeb1 A G 18: 5,591,917 (GRCm39) D3G probably damaging Het
Zfp352 A G 4: 90,112,936 (GRCm39) T359A probably benign Het
Zfp987 C A 4: 146,062,315 (GRCm39) D582E probably benign Het
Zg16 G A 7: 126,649,692 (GRCm39) P90S possibly damaging Het
Other mutations in Or8g54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Or8g54 APN 9 39,706,674 (GRCm39) start codon destroyed probably null 1.00
IGL02108:Or8g54 APN 9 39,706,808 (GRCm39) missense probably damaging 0.99
IGL02999:Or8g54 APN 9 39,706,752 (GRCm39) missense probably damaging 1.00
IGL03089:Or8g54 APN 9 39,706,977 (GRCm39) missense probably benign 0.18
IGL03107:Or8g54 APN 9 39,707,475 (GRCm39) missense probably benign 0.03
R1232:Or8g54 UTSW 9 39,707,264 (GRCm39) missense probably benign 0.18
R1682:Or8g54 UTSW 9 39,706,954 (GRCm39) nonsense probably null
R1796:Or8g54 UTSW 9 39,707,301 (GRCm39) missense possibly damaging 0.82
R2152:Or8g54 UTSW 9 39,706,943 (GRCm39) missense probably benign 0.01
R4534:Or8g54 UTSW 9 39,707,296 (GRCm39) missense probably benign 0.00
R4941:Or8g54 UTSW 9 39,707,160 (GRCm39) missense possibly damaging 0.78
R5239:Or8g54 UTSW 9 39,707,492 (GRCm39) missense probably damaging 0.99
R5602:Or8g54 UTSW 9 39,707,490 (GRCm39) missense possibly damaging 0.94
R6681:Or8g54 UTSW 9 39,706,710 (GRCm39) missense probably benign 0.02
R7066:Or8g54 UTSW 9 39,707,420 (GRCm39) missense probably benign 0.00
R7138:Or8g54 UTSW 9 39,707,086 (GRCm39) nonsense probably null
R8995:Or8g54 UTSW 9 39,707,313 (GRCm39) missense possibly damaging 0.52
R9446:Or8g54 UTSW 9 39,707,342 (GRCm39) missense probably damaging 1.00
Z1176:Or8g54 UTSW 9 39,707,225 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- GTTCATCCTCGCTGGGTTAAC -3'
(R):5'- ATCATCCAAGAACAGACTCGATAGG -3'

Sequencing Primer
(F):5'- TCGCTGGGTTAACAAACAAAC -3'
(R):5'- AAGAACAGACTCGATAGGACATC -3'
Posted On 2018-10-18