Incidental Mutation 'R7066:Or8g54'
ID 548576
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 045162-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R7066 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 39706673-39707608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39707420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 250 (I250V)
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: I250V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074151
Gene: ENSMUSG00000094254
AA Change: I250V

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: I250V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (52/53)
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
A1cf T C 19: 31,904,514 (GRCm39) V175A probably damaging Het
Adamts5 A T 16: 85,659,652 (GRCm39) V880E probably damaging Het
Adgrf1 T A 17: 43,621,151 (GRCm39) F463I probably benign Het
Ano1 T A 7: 144,190,823 (GRCm39) E249D probably benign Het
Aoc1 A G 6: 48,885,553 (GRCm39) D686G probably damaging Het
Cacna1d A T 14: 30,074,935 (GRCm39) probably benign Het
Cdc42ep4 A G 11: 113,620,044 (GRCm39) S116P probably damaging Het
Ces2a T C 8: 105,466,880 (GRCm39) V463A probably damaging Het
Depdc5 A G 5: 33,059,192 (GRCm39) D297G probably benign Het
Fsip2 T A 2: 82,821,235 (GRCm39) V5656E possibly damaging Het
Gbp5 A G 3: 142,213,490 (GRCm39) T469A probably benign Het
Gm21663 C G 5: 26,146,259 (GRCm39) probably null Het
Iqch A G 9: 63,432,027 (GRCm39) V456A probably benign Het
Lpcat1 A C 13: 73,659,500 (GRCm39) I373L probably benign Het
Morc2b C T 17: 33,355,610 (GRCm39) V721I probably benign Het
Mrgprb1 C T 7: 48,097,424 (GRCm39) V163M probably benign Het
Mtfr2 A G 10: 20,229,972 (GRCm39) I142V possibly damaging Het
Muc16 A T 9: 18,569,317 (GRCm39) S1067R unknown Het
Myh14 T C 7: 44,280,179 (GRCm39) S892G possibly damaging Het
Mylk2 C T 2: 152,753,588 (GRCm39) probably null Het
Mzf1 A T 7: 12,777,490 (GRCm39) V638E possibly damaging Het
Ncoa1 C T 12: 4,372,934 (GRCm39) V156I possibly damaging Het
Nf1 A G 11: 79,447,546 (GRCm39) E2450G probably damaging Het
Or14j3 T A 17: 37,901,034 (GRCm39) D70V probably damaging Het
Or1e29 A G 11: 73,668,018 (GRCm39) I45T probably damaging Het
Or4a72 T C 2: 89,406,047 (GRCm39) T8A probably damaging Het
Or4f60 G A 2: 111,902,541 (GRCm39) P129L probably damaging Het
Or5t7 T A 2: 86,507,570 (GRCm39) T36S possibly damaging Het
Or6c88 T C 10: 129,407,373 (GRCm39) L283S probably damaging Het
Or8k17 T C 2: 86,067,002 (GRCm39) D52G probably damaging Het
P4htm T G 9: 108,474,162 (GRCm39) K125N probably damaging Het
Patj A G 4: 98,301,434 (GRCm39) T240A probably benign Het
Pcolce2 T C 9: 95,563,674 (GRCm39) V220A probably benign Het
Pcyox1 A T 6: 86,371,478 (GRCm39) I136N probably damaging Het
Pde4b A G 4: 102,460,003 (GRCm39) S395G probably benign Het
Peg3 C A 7: 6,711,856 (GRCm39) R1122L probably damaging Het
Plekhm1 A G 11: 103,261,814 (GRCm39) V922A possibly damaging Het
Rad51c T C 11: 87,293,502 (GRCm39) N118S possibly damaging Het
Rb1cc1 T A 1: 6,320,229 (GRCm39) V1216D possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rlf T C 4: 121,005,984 (GRCm39) M999V probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,125 (GRCm39) probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Sema5b A C 16: 35,471,682 (GRCm39) D425A probably benign Het
Siglecg A G 7: 43,061,166 (GRCm39) E413G probably benign Het
Tcaf1 A T 6: 42,656,111 (GRCm39) N288K probably damaging Het
Tdp1 A G 12: 99,860,991 (GRCm39) D210G probably benign Het
Umps A T 16: 33,782,103 (GRCm39) L273* probably null Het
Vcan A T 13: 89,853,805 (GRCm39) V385D probably damaging Het
Wdr59 T C 8: 112,192,477 (GRCm39) T676A probably benign Het
Zdbf2 A G 1: 63,346,718 (GRCm39) H1699R probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) probably benign 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
R6819:Or8g54 UTSW 9 39,706,905 (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'- ACTGGAACTCTCTTGTTCTGATACC -3'
(R):5'- GCTAGCCCTCTAAATATGAATGTG -3'

Sequencing Primer
(F):5'- CTTCATCATAGCCAGCATC -3'
(R):5'- GCCCTCTAAATATGAATGTGAGTTC -3'
Posted On 2019-05-13