Incidental Mutation 'IGL03245:Or9a7'
ID 414370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or9a7
Ensembl Gene ENSMUSG00000068259
Gene Name olfactory receptor family 9 subfamily A member 7
Synonyms GA_x6K02T2P3E9-6973252-6974193, Olfr461, MOR120-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL03245
Quality Score
Status
Chromosome 6
Chromosomal Location 40520970-40521911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40521076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 279 (V279A)
Ref Sequence ENSEMBL: ENSMUSP00000150632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089490] [ENSMUST00000215009]
AlphaFold Q8VF30
Predicted Effect probably damaging
Transcript: ENSMUST00000089490
AA Change: V279A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086917
Gene: ENSMUSG00000068259
AA Change: V279A

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 2e-41 PFAM
Pfam:7tm_1 40 289 1.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215009
AA Change: V279A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216766
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 C T 7: 75,259,500 (GRCm39) A708V probably damaging Het
Cdh3 A G 8: 107,279,631 (GRCm39) N749S probably damaging Het
Col3a1 G A 1: 45,370,269 (GRCm39) probably benign Het
Csmd2 T A 4: 128,402,915 (GRCm39) S2334R probably benign Het
Cubn T C 2: 13,360,500 (GRCm39) T1741A probably benign Het
Cuedc1 T C 11: 88,068,088 (GRCm39) probably benign Het
Cutc T C 19: 43,756,621 (GRCm39) S228P possibly damaging Het
Dnmt1 G T 9: 20,827,056 (GRCm39) N1013K probably damaging Het
Dst G T 1: 34,250,229 (GRCm39) probably null Het
Lamc2 A T 1: 153,009,503 (GRCm39) probably null Het
Mettl25 T C 10: 105,662,358 (GRCm39) N204S possibly damaging Het
Micall2 G A 5: 139,705,014 (GRCm39) H107Y probably damaging Het
Or5d16 T A 2: 87,773,086 (GRCm39) R295S possibly damaging Het
Or8g28 T A 9: 39,169,294 (GRCm39) I225F probably damaging Het
Ptger4 A T 15: 5,264,588 (GRCm39) I331N probably damaging Het
Rad54l2 A G 9: 106,580,827 (GRCm39) F898S probably damaging Het
Smr2 A G 5: 88,256,709 (GRCm39) N129S probably benign Het
Tmeff2 T C 1: 51,220,976 (GRCm39) F317S probably benign Het
Trpm6 A T 19: 18,855,065 (GRCm39) E1908V probably damaging Het
Ugt2a3 G A 5: 87,484,439 (GRCm39) P195L probably damaging Het
Xpo7 T A 14: 70,925,734 (GRCm39) D436V probably damaging Het
Zfp804b C A 5: 6,822,253 (GRCm39) S234I possibly damaging Het
Other mutations in Or9a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02232:Or9a7 APN 6 40,520,980 (GRCm39) missense probably damaging 0.96
R0325:Or9a7 UTSW 6 40,521,057 (GRCm39) missense possibly damaging 0.95
R0835:Or9a7 UTSW 6 40,521,272 (GRCm39) missense probably benign 0.01
R1594:Or9a7 UTSW 6 40,521,281 (GRCm39) missense probably benign 0.00
R2437:Or9a7 UTSW 6 40,521,856 (GRCm39) missense probably benign 0.37
R6360:Or9a7 UTSW 6 40,521,647 (GRCm39) missense possibly damaging 0.83
R6970:Or9a7 UTSW 6 40,521,590 (GRCm39) missense probably benign 0.31
R7252:Or9a7 UTSW 6 40,521,703 (GRCm39) missense probably benign 0.06
R7326:Or9a7 UTSW 6 40,521,829 (GRCm39) missense probably damaging 0.97
R8766:Or9a7 UTSW 6 40,521,485 (GRCm39) missense probably benign
R9201:Or9a7 UTSW 6 40,521,293 (GRCm39) missense probably benign 0.00
RF003:Or9a7 UTSW 6 40,521,296 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02