Incidental Mutation 'IGL01386:Olfr599'
ID79037
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 #IGL01386
Quality Score
Status
Chromosome7
Chromosomal Location103335917-103339564 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 103338767 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 238 (K238*)
Ref Sequence ENSEMBL: ENSMUSP00000149281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098201] [ENSMUST00000214329] [ENSMUST00000215042]
Predicted Effect probably null
Transcript: ENSMUST00000098201
AA Change: K238*
SMART Domains Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: K238*

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 null
Transcript: ENSMUST00000214329
AA Change: K238*
Predicted Effect probably benign
Transcript: ENSMUST00000215042
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,193,672 R214G probably benign Het
Cacna1e T A 1: 154,472,377 K817N probably benign Het
Cyp3a16 A G 5: 145,440,434 F448L probably damaging Het
Dpp6 T A 5: 27,664,762 probably null Het
Eif2ak3 C T 6: 70,892,726 T799M probably damaging Het
Erbb4 A T 1: 68,343,931 S302R probably damaging Het
Fam217a T A 13: 34,915,649 probably benign Het
Flt4 C A 11: 49,637,335 A995D probably benign Het
Fpr-rs7 G A 17: 20,114,192 S12L probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Hpcal4 T C 4: 123,189,242 probably null Het
Intu A T 3: 40,692,587 D630V probably damaging Het
Jak3 A G 8: 71,684,289 D703G probably damaging Het
Lama4 A G 10: 39,011,064 I122V probably benign Het
Marc2 A G 1: 184,819,216 probably benign Het
Mrpl11 A C 19: 4,963,381 K92T probably null Het
Mylk A G 16: 34,971,240 probably null Het
Parpbp A C 10: 88,139,986 Y88* probably null Het
Plod2 G A 9: 92,606,602 R627Q probably damaging Het
Rapsn G T 2: 91,036,799 A149S probably damaging Het
Ripk3 T G 14: 55,786,027 Q109P probably damaging Het
Scaf11 T C 15: 96,420,480 D401G probably damaging Het
Serpine2 G A 1: 79,801,551 T150I probably damaging Het
Sh2d6 T A 6: 72,518,962 T98S probably benign Het
Slc28a1 G T 7: 81,164,679 A513S probably benign Het
Tanc2 T C 11: 105,886,381 F795S probably damaging Het
Tcim T A 8: 24,438,689 I70F probably benign Het
Thbd G A 2: 148,407,682 Q89* probably null Het
Tmem115 C T 9: 107,534,660 T61I probably damaging Het
Tsc2 A T 17: 24,613,285 V650E probably damaging Het
Tubgcp6 A T 15: 89,107,996 Y595* probably null Het
Uroc1 C T 6: 90,346,765 A398V probably damaging Het
Vmn1r31 T C 6: 58,472,602 T93A probably benign Het
Vmn2r113 A G 17: 22,956,050 E545G possibly damaging Het
Vps13a A G 19: 16,701,152 V1155A possibly damaging Het
Zfp667 A G 7: 6,304,870 H179R probably benign Het
Other mutations in Olfr599
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01744:Olfr599 APN 7 103338228 missense probably damaging 0.98
IGL02011:Olfr599 APN 7 103338849 missense probably damaging 0.98
IGL02328:Olfr599 APN 7 103338290 missense probably damaging 1.00
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 On2013-11-05