Incidental Mutation 'IGL02328:Olfr599'
ID288549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr599
Ensembl Gene ENSMUSG00000073950
Gene Nameolfactory receptor 599
SynonymsGA_x6K02T2PBJ9-6047402-6048349, MOR23-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02328
Quality Score
Status
Chromosome7
Chromosomal Location103335917-103339564 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103338290 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 79 (I79F)
Ref Sequence ENSEMBL: ENSMUSP00000149281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098201] [ENSMUST00000214329]
Predicted Effect probably damaging
Transcript: ENSMUST00000098201
AA Change: I79F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: I79F

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 1.8e-94 PFAM
Pfam:7TM_GPCR_Srsx 37 308 1.2e-6 PFAM
Pfam:7tm_1 43 293 2.1e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214329
AA Change: I79F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,578,175 N577I probably damaging Het
Arhgef1 T C 7: 24,923,815 L667P probably damaging Het
Btk G A X: 134,558,700 P192L probably damaging Het
Col12a1 T A 9: 79,682,066 Y1069F probably damaging Het
Dnah7a C T 1: 53,524,937 probably null Het
E230025N22Rik A G 18: 36,695,614 S4P probably damaging Het
Ei24 A T 9: 36,785,531 probably null Het
Foxred2 A G 15: 77,955,832 L86P probably damaging Het
Gm3127 A T 14: 4,165,216 R42W probably damaging Het
Hgf A G 5: 16,598,221 Y377C probably damaging Het
Hpse2 A T 19: 42,931,599 L354I probably damaging Het
Hspa4 A G 11: 53,300,058 probably null Het
Iqcg T G 16: 33,019,506 I357L probably benign Het
Itsn1 T C 16: 91,815,407 L204P probably damaging Het
Kalrn T C 16: 34,332,224 N311S probably damaging Het
Lmod2 A G 6: 24,603,833 D269G probably benign Het
Med16 A G 10: 79,907,542 S29P probably damaging Het
Mex3b T C 7: 82,869,712 S412P probably benign Het
Myo15 A G 11: 60,526,607 I3443V probably benign Het
Naip2 A T 13: 100,161,369 L720I probably damaging Het
Olfr1427 T A 19: 12,098,782 I286F probably damaging Het
Olfr385 A G 11: 73,589,255 V161A probably benign Het
Olfr806 T C 10: 129,738,026 D297G probably benign Het
Olfr904 A T 9: 38,464,676 I212F probably benign Het
Pan3 A G 5: 147,530,123 probably null Het
Pitpnm2 T C 5: 124,121,414 Q1286R probably damaging Het
Scgb2b24 A G 7: 33,738,625 probably benign Het
Sh2b3 T C 5: 121,817,859 D520G probably benign Het
Skint4 T A 4: 112,120,058 I215N possibly damaging Het
Slc24a5 A G 2: 125,080,639 D107G probably damaging Het
Slit2 T C 5: 48,230,304 I549T probably damaging Het
Stambp A G 6: 83,556,381 L300P possibly damaging Het
Taf2 T C 15: 55,028,376 N1017S probably benign Het
Tm9sf2 T G 14: 122,143,430 V145G possibly damaging Het
Tor1aip2 G T 1: 156,064,974 C342F probably damaging Het
Ubr4 C T 4: 139,478,922 T4823M probably damaging Het
Vmn1r80 G T 7: 12,193,478 A172S probably benign Het
Vmn2r67 T A 7: 85,150,690 N447Y probably benign Het
Zbtb1 A G 12: 76,386,676 N479D possibly damaging Het
Other mutations in Olfr599
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Olfr599 APN 7 103338767 nonsense probably null
IGL01744:Olfr599 APN 7 103338228 missense probably damaging 0.98
IGL02011:Olfr599 APN 7 103338849 missense probably damaging 0.98
IGL02630:Olfr599 APN 7 103338429 missense probably damaging 1.00
IGL03119:Olfr599 APN 7 103338722 missense probably damaging 1.00
PIT4468001:Olfr599 UTSW 7 103338600 missense probably damaging 1.00
R0599:Olfr599 UTSW 7 103338186 missense probably damaging 1.00
R4084:Olfr599 UTSW 7 103338320 missense probably damaging 0.99
R5068:Olfr599 UTSW 7 103338022 start gained probably null
R5069:Olfr599 UTSW 7 103338022 start gained probably null
R5280:Olfr599 UTSW 7 103338501 missense probably benign
R5816:Olfr599 UTSW 7 103338995 missense probably benign 0.00
R6560:Olfr599 UTSW 7 103338738 missense probably benign 0.02
R7001:Olfr599 UTSW 7 103338221 missense possibly damaging 0.51
R7890:Olfr599 UTSW 7 103338330 missense probably benign
R8295:Olfr599 UTSW 7 103338267 missense probably benign 0.08
R8430:Olfr599 UTSW 7 103338957 missense probably benign 0.01
Posted On2015-04-16