Incidental Mutation 'IGL02258:Or7g30'
ID 286652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or7g30
Ensembl Gene ENSMUSG00000052182
Gene Name olfactory receptor family 7 subfamily G member 30
Synonyms Olfr849, GA_x6K02T2PVTD-13176842-13177780, MOR151-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # IGL02258
Quality Score
Status
Chromosome 9
Chromosomal Location 19352211-19353149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19352293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 28 (F28Y)
Ref Sequence ENSEMBL: ENSMUSP00000149769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063923] [ENSMUST00000217273]
AlphaFold Q8VFF6
Predicted Effect possibly damaging
Transcript: ENSMUST00000063923
AA Change: F28Y

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064123
Gene: ENSMUSG00000052182
AA Change: F28Y

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.9e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 305 7.6e-6 PFAM
Pfam:7tm_1 41 290 2.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157237
Predicted Effect possibly damaging
Transcript: ENSMUST00000217273
AA Change: F28Y

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
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: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Diaph1 G T 18: 37,986,383 (GRCm39) R1166S probably damaging Het
Fosl2 C A 5: 32,304,259 (GRCm39) Q65K probably damaging Het
H2bc8 G T 13: 23,755,609 (GRCm39) M1I probably null Het
Il18 A G 9: 50,488,003 (GRCm39) N29S probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Psg16 A G 7: 16,829,217 (GRCm39) D267G probably damaging Het
Other mutations in Or7g30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Or7g30 APN 9 19,352,266 (GRCm39) missense probably benign 0.01
IGL01599:Or7g30 APN 9 19,353,111 (GRCm39) missense probably benign 0.00
IGL01885:Or7g30 APN 9 19,352,760 (GRCm39) missense probably benign 0.01
IGL02258:Or7g30 APN 9 19,352,295 (GRCm39) missense probably benign 0.00
IGL02282:Or7g30 APN 9 19,352,914 (GRCm39) missense probably benign 0.42
R1293:Or7g30 UTSW 9 19,352,728 (GRCm39) missense probably benign 0.27
R1931:Or7g30 UTSW 9 19,352,647 (GRCm39) missense possibly damaging 0.93
R2444:Or7g30 UTSW 9 19,352,311 (GRCm39) missense possibly damaging 0.78
R4181:Or7g30 UTSW 9 19,353,031 (GRCm39) missense possibly damaging 0.86
R4231:Or7g30 UTSW 9 19,352,886 (GRCm39) missense probably damaging 1.00
R4233:Or7g30 UTSW 9 19,352,886 (GRCm39) missense probably damaging 1.00
R4236:Or7g30 UTSW 9 19,352,886 (GRCm39) missense probably damaging 1.00
R4302:Or7g30 UTSW 9 19,352,295 (GRCm39) missense probably benign 0.00
R4651:Or7g30 UTSW 9 19,352,591 (GRCm39) nonsense probably null
R5006:Or7g30 UTSW 9 19,352,545 (GRCm39) missense probably benign 0.30
R5088:Or7g30 UTSW 9 19,353,067 (GRCm39) missense probably damaging 1.00
R5501:Or7g30 UTSW 9 19,352,290 (GRCm39) missense possibly damaging 0.93
R6775:Or7g30 UTSW 9 19,352,718 (GRCm39) missense possibly damaging 0.56
R7038:Or7g30 UTSW 9 19,352,888 (GRCm39) missense possibly damaging 0.88
R8010:Or7g30 UTSW 9 19,352,988 (GRCm39) missense probably benign 0.02
R8850:Or7g30 UTSW 9 19,352,817 (GRCm39) missense probably damaging 0.96
R9154:Or7g30 UTSW 9 19,352,531 (GRCm39) missense probably benign 0.39
R9523:Or7g30 UTSW 9 19,352,580 (GRCm39) missense possibly damaging 0.73
Posted On 2015-04-16