Incidental Mutation 'G5030:Olfr790'
ID493
Institutional Source Beutler Lab
Gene Symbol Olfr790
Ensembl Gene ENSMUSG00000044025
Gene Nameolfactory receptor 790
SynonymsGA_x6K02T2PULF-11179777-11180721, MOR112-1
Accession Numbers

Genbank: NM_146933

Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #G5030 (G3) of strain 560
Quality Score
Status Validated
Chromosome10
Chromosomal Location129498492-129503342 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129501537 bp
ZygosityHomozygous
Amino Acid Change Threonine to Alanine at position 218 (T218A)
Ref Sequence ENSEMBL: ENSMUSP00000151759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056002] [ENSMUST00000203966] [ENSMUST00000215067] [ENSMUST00000218901]
Predicted Effect probably benign
Transcript: ENSMUST00000056002
AA Change: T210A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000052235
Gene: ENSMUSG00000044025
AA Change: T210A

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 5.6e-53 PFAM
Pfam:7tm_1 47 296 1.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203966
AA Change: T210A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000145450
Gene: ENSMUSG00000044025
AA Change: T210A

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 5.6e-53 PFAM
Pfam:7tm_1 47 296 1.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215067
AA Change: T210A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000218901
AA Change: T218A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0930 question?
Coding Region Coverage
  • 1x: 81.1%
  • 3x: 60.2%
Het Detection Efficiency35.6%
Validation Efficiency 87% (206/237)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 110,070,339 I585F probably damaging Het
Adam18 C G 8: 24,651,856 L232F probably benign Homo
Atp13a4 A G 16: 29,455,488 I385T probably damaging Homo
Ccdc17 T A 4: 116,598,502 S277T probably benign Het
Ccng1 A G 11: 40,753,802 probably benign Het
Ces1f T C 8: 93,274,219 D99G probably benign Het
Clec16a G A 16: 10,571,561 R187Q probably damaging Homo
Cryl1 C T 14: 57,342,138 probably benign Het
Cryzl2 C T 1: 157,465,010 Q48* probably null Het
Dtx4 A G 19: 12,469,579 L583P probably benign Het
Ephx4 A T 5: 107,429,827 D339V probably damaging Het
Eri2 A T 7: 119,786,378 V300E possibly damaging Het
F3 T A 3: 121,724,999 N37K probably damaging Homo
Fpr1 A T 17: 17,876,806 L307H probably damaging Het
Fv1 T A 4: 147,869,161 N61K possibly damaging Het
Gm5548 T C 3: 113,054,196 noncoding transcript Homo
Il1r1 A G 1: 40,313,163 K498E possibly damaging Homo
Myh11 T C 16: 14,250,579 I192M probably damaging Homo
Nckap5 T C 1: 126,025,854 K923R probably damaging Het
Nmbr A T 10: 14,767,003 Y102F possibly damaging Het
Pde1a C T 2: 79,887,836 probably benign Het
Pex6 T C 17: 46,715,456 probably benign Het
Rtn2 T C 7: 19,293,174 S305P probably damaging Homo
Saal1 G A 7: 46,692,783 T412I probably damaging Homo
Slc46a2 A T 4: 59,913,867 I352N probably damaging Het
Trim37 A T 11: 87,143,141 H99L probably damaging Het
Tubgcp4 C T 2: 121,184,334 R242C probably damaging Het
Twf2 C A 9: 106,206,942 L27I possibly damaging Het
Usp40 A T 1: 87,994,219 H307Q probably damaging Het
Zfhx3 T G 8: 108,951,459 V3047G possibly damaging Het
Other mutations in Olfr790
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Olfr790 APN 10 129501646 missense probably damaging 1.00
IGL01575:Olfr790 APN 10 129501567 missense probably benign 0.01
IGL02389:Olfr790 APN 10 129501070 missense probably benign
IGL02601:Olfr790 APN 10 129501854 makesense probably null
R0785:Olfr790 UTSW 10 129500881 critical splice acceptor site probably null
R0850:Olfr790 UTSW 10 129501724 missense probably damaging 0.99
R0899:Olfr790 UTSW 10 129501432 missense probably damaging 1.00
R1167:Olfr790 UTSW 10 129501150 missense probably benign 0.03
R1515:Olfr790 UTSW 10 129501591 missense probably damaging 1.00
R1557:Olfr790 UTSW 10 129501622 missense probably damaging 1.00
R1759:Olfr790 UTSW 10 129500906 missense probably benign 0.00
R1892:Olfr790 UTSW 10 129501033 missense probably benign 0.02
R4296:Olfr790 UTSW 10 129501470 nonsense probably null
R4681:Olfr790 UTSW 10 129501564 missense probably damaging 1.00
R5046:Olfr790 UTSW 10 129501309 missense possibly damaging 0.57
R5309:Olfr790 UTSW 10 129501514 missense probably damaging 1.00
R5312:Olfr790 UTSW 10 129501514 missense probably damaging 1.00
R5550:Olfr790 UTSW 10 129501783 missense probably damaging 1.00
R5788:Olfr790 UTSW 10 129500894 missense probably benign
R5788:Olfr790 UTSW 10 129500910 start codon destroyed probably null 0.99
R7457:Olfr790 UTSW 10 129501706 missense probably damaging 1.00
R7782:Olfr790 UTSW 10 129501151 missense probably benign 0.01
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to G transition at position 652 of the Olfr790 transcript. The mutated nucleotide causes a threonine to alanine substitution at amino acid 218 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction

The Olfr790 gene encodes the 322 amino acid olfactory receptor 790. Olfactory receptors are G-protein coupled receptors (GPCRs) and usually contain seven transmembrane domains (Uniprot Q8VGJ3).

The T218A change is predicted to be benign by the PolyPhen program (see report).
Posted On2010-10-26