Incidental Mutation 'IGL02804:Olfr794'
ID360342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr794
Ensembl Gene ENSMUSG00000044293
Gene Nameolfactory receptor 794
SynonymsGA_x6K02T2PULF-11248702-11249664, MOR114-11
Accession Numbers

Genbank: NM_146378

Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL02804
Quality Score
Status
Chromosome10
Chromosomal Location129567655-129573110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129571437 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 261 (S261P)
Ref Sequence ENSEMBL: ENSMUSP00000145301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059957] [ENSMUST00000204820]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059957
AA Change: S261P

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000049790
Gene: ENSMUSG00000044293
AA Change: S261P

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.8e-49 PFAM
Pfam:7tm_1 39 288 2e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204820
AA Change: S261P

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145301
Gene: ENSMUSG00000044293
AA Change: S261P

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.8e-49 PFAM
Pfam:7tm_1 39 288 2e-22 PFAM
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G T 7: 28,153,370 V1361L probably benign Het
Aftph T C 11: 20,726,107 T501A possibly damaging Het
Agrn A G 4: 156,174,055 S985P probably benign Het
Atxn7l1 T A 12: 33,367,789 S650T probably damaging Het
Camk2d G A 3: 126,797,738 E286K possibly damaging Het
Card10 A G 15: 78,802,449 V56A probably damaging Het
Gm10471 T A 5: 26,086,431 K126* probably null Het
Gm436 A T 4: 144,670,439 I241N possibly damaging Het
H2-Q10 G A 17: 35,473,250 G263R probably damaging Het
Herc4 A C 10: 63,285,675 K365Q probably benign Het
Klhl33 T C 14: 50,892,954 H101R probably damaging Het
Lef1 A G 3: 131,194,689 N236D probably damaging Het
Lipg T A 18: 74,949,088 N255Y probably damaging Het
Lrp5 T C 19: 3,600,777 D1219G possibly damaging Het
Myh7b T C 2: 155,625,723 L756P probably damaging Het
Nnt A G 13: 119,381,674 probably null Het
Pcsk9 A G 4: 106,456,964 Y145H probably damaging Het
Prkag1 G A 15: 98,815,504 S69L probably damaging Het
Prkd2 C A 7: 16,855,890 R506S probably benign Het
Ralgapb T A 2: 158,426,284 D102E possibly damaging Het
Rbm44 A G 1: 91,150,176 probably benign Het
Snap23 T C 2: 120,586,156 probably benign Het
Sntg1 T A 1: 8,803,958 probably benign Het
Strbp T C 2: 37,624,486 probably benign Het
Tmem217 G A 17: 29,526,481 L92F probably damaging Het
Troap G A 15: 99,077,671 probably null Het
Vmn1r16 T C 6: 57,323,482 M52V probably benign Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zbp1 T A 2: 173,209,146 K310N probably damaging Het
Zfp423 T A 8: 87,782,657 H332L probably benign Het
Other mutations in Olfr794
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01867:Olfr794 APN 10 129570827 missense possibly damaging 0.95
IGL02157:Olfr794 APN 10 129571150 missense probably damaging 1.00
IGL02833:Olfr794 APN 10 129570750 missense probably benign 0.26
IGL02930:Olfr794 APN 10 129571315 missense probably damaging 1.00
IGL03038:Olfr794 APN 10 129570921 missense probably benign 0.07
G4846:Olfr794 UTSW 10 129571170 missense probably damaging 1.00
R1539:Olfr794 UTSW 10 129570771 missense probably damaging 0.99
R1737:Olfr794 UTSW 10 129570828 missense probably damaging 1.00
R1845:Olfr794 UTSW 10 129571348 missense probably damaging 1.00
R2198:Olfr794 UTSW 10 129571046 nonsense probably null
R3086:Olfr794 UTSW 10 129571407 missense probably damaging 1.00
R4960:Olfr794 UTSW 10 129571026 missense probably damaging 1.00
R5938:Olfr794 UTSW 10 129571527 missense probably damaging 1.00
R6326:Olfr794 UTSW 10 129570702 missense possibly damaging 0.74
R6598:Olfr794 UTSW 10 129571369 missense probably damaging 1.00
R7034:Olfr794 UTSW 10 129571072 missense possibly damaging 0.91
R7066:Olfr794 UTSW 10 129571504 missense probably damaging 1.00
R7226:Olfr794 UTSW 10 129570715 missense probably benign 0.01
R7324:Olfr794 UTSW 10 129570849 missense probably damaging 1.00
R7408:Olfr794 UTSW 10 129570624 start gained probably benign
R7779:Olfr794 UTSW 10 129571311 missense probably damaging 1.00
Z1176:Olfr794 UTSW 10 129571236 nonsense probably null
Posted On2015-12-18