Incidental Mutation 'IGL01575:Olfr790'
ID91204
Institutional Source Australian Phenomics Network (link to record)
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: 0.141) question?
Stock #IGL01575
Quality Score
Status
Chromosome10
Chromosomal Location129498492-129503342 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129501567 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 228 (I228V)
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: I220V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000052235
Gene: ENSMUSG00000044025
AA Change: I220V

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: I220V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000145450
Gene: ENSMUSG00000044025
AA Change: I220V

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: I220V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000218901
AA Change: I228V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 C T 2: 25,285,176 probably benign Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Boll A G 1: 55,323,648 probably null Het
Cngb1 G A 8: 95,264,520 P226S possibly damaging Het
Commd3 G A 2: 18,674,717 probably null Het
Ddx46 C T 13: 55,654,183 probably benign Het
Dmrtb1 A G 4: 107,684,068 I32T probably benign Het
Dnah7a T C 1: 53,427,820 probably benign Het
Dppa5a A G 9: 78,367,780 I80T possibly damaging Het
Galntl6 T C 8: 58,427,676 probably benign Het
Gm9803 T C 10: 43,524,415 V55A probably benign Het
Hmgcr A G 13: 96,656,595 Y510H possibly damaging Het
Idua G T 5: 108,682,107 R505L possibly damaging Het
Ifna15 A G 4: 88,557,807 F147L probably damaging Het
Itga4 T C 2: 79,288,255 S433P probably damaging Het
Kcnc1 T C 7: 46,428,099 Y442H possibly damaging Het
Kmt2d A G 15: 98,846,855 probably benign Het
Mpp7 A G 18: 7,403,365 probably benign Het
Olfr292 T C 7: 86,695,293 V279A probably benign Het
Olfr488 A C 7: 108,255,535 V201G possibly damaging Het
Phf14 T C 6: 11,990,051 L693S probably damaging Het
Pkd1 A G 17: 24,573,128 N1263S probably damaging Het
Rhbdl1 G T 17: 25,836,138 A32E possibly damaging Het
Samd9l A G 6: 3,376,734 S176P possibly damaging Het
Scn1a G T 2: 66,273,236 F1893L probably damaging Het
Serpina3f C A 12: 104,218,440 P281Q probably damaging Het
Slc35a1 G T 4: 34,668,932 Q294K probably benign Het
Sspo G A 6: 48,459,042 S1154N probably benign Het
Tdrd6 A G 17: 43,627,980 S726P probably benign Het
Tiam2 A T 17: 3,454,316 E24V probably damaging Het
Tmf1 T C 6: 97,175,936 E392G probably damaging Het
Tns2 T C 15: 102,113,191 V1089A probably damaging Het
Tspyl1 C A 10: 34,283,090 N270K probably damaging Het
Usp32 A T 11: 85,022,802 V901D probably damaging Het
Vldlr A G 19: 27,246,631 I764V probably benign Het
Wnk2 A G 13: 49,146,676 V186A probably damaging Het
Zdhhc18 A G 4: 133,613,899 V221A probably damaging Het
Other mutations in Olfr790
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Olfr790 APN 10 129501646 missense probably damaging 1.00
IGL02389:Olfr790 APN 10 129501070 missense probably benign
IGL02601:Olfr790 APN 10 129501854 makesense probably null
G5030:Olfr790 UTSW 10 129501537 missense probably benign 0.00
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
Posted On2013-12-09