Incidental Mutation 'IGL01451:Or8b54'
ID 84628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b54
Ensembl Gene ENSMUSG00000049926
Gene Name olfactory receptor family 8 subfamily B member 54
Synonyms MOR165-8, GA_x6K02T2PVTD-32478047-32478988, Olfr921
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01451
Quality Score
Status
Chromosome 9
Chromosomal Location 38684384-38687650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38687225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 225 (I225V)
Ref Sequence ENSEMBL: ENSMUSP00000150844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071681] [ENSMUST00000213958] [ENSMUST00000217114]
AlphaFold Q7TRC0
Predicted Effect probably benign
Transcript: ENSMUST00000062124
AA Change: I225V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000051879
Gene: ENSMUSG00000049926
AA Change: I225V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.8e-48 PFAM
Pfam:7tm_1 41 290 6.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071681
AA Change: I225V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000071604
Gene: ENSMUSG00000049926
AA Change: I225V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.8e-51 PFAM
Pfam:7tm_1 41 290 1.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213958
AA Change: I225V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000217114
AA Change: I225V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik A G 3: 124,373,527 (GRCm39) S23P possibly damaging Het
Adam1a T C 5: 121,657,439 (GRCm39) Y618C probably benign Het
Amigo2 A C 15: 97,143,107 (GRCm39) S438R probably benign Het
Atp5me T C 5: 108,581,922 (GRCm39) I21V probably benign Het
Dnah2 T C 11: 69,365,017 (GRCm39) probably benign Het
Dock2 A G 11: 34,260,390 (GRCm39) Y984H probably damaging Het
Dpysl2 T A 14: 67,045,367 (GRCm39) I469F possibly damaging Het
Edem3 C T 1: 151,694,379 (GRCm39) T886I probably benign Het
Gart T C 16: 91,422,400 (GRCm39) T706A probably benign Het
Gfpt2 A T 11: 49,698,517 (GRCm39) probably benign Het
Gm11541 T G 11: 94,586,495 (GRCm39) D84A unknown Het
Gne T C 4: 44,041,860 (GRCm39) probably null Het
Gria4 A T 9: 4,503,652 (GRCm39) D321E probably benign Het
Ift122 T G 6: 115,889,565 (GRCm39) probably null Het
Lcp2 A T 11: 33,997,345 (GRCm39) probably benign Het
Mcm2 C T 6: 88,868,948 (GRCm39) probably benign Het
Ptpru C A 4: 131,496,803 (GRCm39) probably benign Het
Rpap2 T C 5: 107,751,492 (GRCm39) probably null Het
Slc25a39 T C 11: 102,295,726 (GRCm39) T138A probably damaging Het
St6galnac1 A C 11: 116,660,165 (GRCm39) S49R probably benign Het
Stat1 T C 1: 52,178,502 (GRCm39) L312P probably damaging Het
Tmem198 T C 1: 75,461,014 (GRCm39) probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Treml4 T C 17: 48,572,023 (GRCm39) probably benign Het
Trpm6 A G 19: 18,786,933 (GRCm39) D503G probably damaging Het
Ttn C A 2: 76,775,617 (GRCm39) E1854D unknown Het
Ubqln3 A T 7: 103,791,403 (GRCm39) M229K possibly damaging Het
Zfyve9 T C 4: 108,539,457 (GRCm39) T939A probably damaging Het
Other mutations in Or8b54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00948:Or8b54 APN 9 38,687,108 (GRCm39) nonsense probably null
IGL01016:Or8b54 APN 9 38,686,737 (GRCm39) missense probably damaging 0.99
IGL01391:Or8b54 APN 9 38,686,826 (GRCm39) missense probably damaging 1.00
IGL02250:Or8b54 APN 9 38,686,850 (GRCm39) missense probably damaging 1.00
R0026:Or8b54 UTSW 9 38,686,892 (GRCm39) missense probably benign 0.01
R0334:Or8b54 UTSW 9 38,686,535 (GRCm39) critical splice acceptor site probably null
R0655:Or8b54 UTSW 9 38,686,850 (GRCm39) nonsense probably null
R1024:Or8b54 UTSW 9 38,686,631 (GRCm39) missense probably damaging 0.97
R3522:Or8b54 UTSW 9 38,687,016 (GRCm39) missense possibly damaging 0.67
R3967:Or8b54 UTSW 9 38,686,664 (GRCm39) missense probably benign 0.09
R3968:Or8b54 UTSW 9 38,686,664 (GRCm39) missense probably benign 0.09
R3969:Or8b54 UTSW 9 38,686,664 (GRCm39) missense probably benign 0.09
R4761:Or8b54 UTSW 9 38,687,133 (GRCm39) missense probably benign 0.05
R4796:Or8b54 UTSW 9 38,686,670 (GRCm39) missense probably benign 0.15
R4880:Or8b54 UTSW 9 38,686,843 (GRCm39) nonsense probably null
R5237:Or8b54 UTSW 9 38,687,252 (GRCm39) missense probably damaging 1.00
R5756:Or8b54 UTSW 9 38,686,554 (GRCm39) start codon destroyed probably null 1.00
R6230:Or8b54 UTSW 9 38,687,073 (GRCm39) missense possibly damaging 0.94
R6487:Or8b54 UTSW 9 38,686,731 (GRCm39) missense probably damaging 1.00
R7514:Or8b54 UTSW 9 38,686,974 (GRCm39) missense probably damaging 1.00
R7573:Or8b54 UTSW 9 38,686,791 (GRCm39) missense probably damaging 1.00
R7755:Or8b54 UTSW 9 38,687,073 (GRCm39) missense possibly damaging 0.94
R8195:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R8196:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R8197:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R8199:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R8211:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R8212:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R8236:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R8239:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R8279:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R8282:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R8283:Or8b54 UTSW 9 38,686,577 (GRCm39) missense noncoding transcript
R9207:Or8b54 UTSW 9 38,686,960 (GRCm39) missense possibly damaging 0.48
Posted On 2013-11-11