Incidental Mutation 'IGL01744:Olfr599'
ID152961
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: 0.068) question?
Stock #IGL01744
Quality Score
Status
Chromosome7
Chromosomal Location103335917-103339564 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103338228 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 58 (H58R)
Ref Sequence ENSEMBL: ENSMUSP00000149281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098201] [ENSMUST00000214329]
Predicted Effect probably damaging
Transcript: ENSMUST00000098201
AA Change: H58R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: H58R

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: H58R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T C 7: 12,550,532 I102T possibly damaging Het
4933412E24Rik C A 15: 60,015,575 A339S possibly damaging Het
Ackr2 A G 9: 121,909,119 T187A probably benign Het
Adam28 A G 14: 68,607,507 V777A probably benign Het
Add3 T A 19: 53,239,430 D515E probably damaging Het
Aire C A 10: 78,036,723 E354* probably null Het
AW551984 T C 9: 39,591,272 K670R probably benign Het
Bahcc1 T C 11: 120,271,737 V287A probably benign Het
Brca1 T C 11: 101,524,176 N1044S possibly damaging Het
Bub1b T A 2: 118,636,749 I851N probably damaging Het
Ceacam11 A T 7: 17,973,398 I36F possibly damaging Het
Copa A G 1: 172,113,189 E714G probably benign Het
Cth A T 3: 157,924,935 N32K probably benign Het
Cyp2a5 T A 7: 26,841,009 M349K probably damaging Het
D130052B06Rik A G 11: 33,623,966 S188G unknown Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flt1 T C 5: 147,571,461 N1161S probably benign Het
Gm10696 T A 3: 94,176,237 K89M probably damaging Het
Hip1 T C 5: 135,545,063 probably benign Het
Mapk11 A G 15: 89,146,843 probably benign Het
Mtif2 A G 11: 29,544,417 probably benign Het
Myo1f C A 17: 33,583,680 probably benign Het
Nipsnap1 G A 11: 4,889,912 R211H probably damaging Het
Olfr781 T C 10: 129,333,457 I192T probably benign Het
Pcdh1 A T 18: 38,203,249 I111N probably damaging Het
Piezo2 T A 18: 63,042,788 I1841F probably damaging Het
Pirb G T 7: 3,717,176 Y399* probably null Het
Ppp1r36 A T 12: 76,439,232 N388I possibly damaging Het
Prr16 A G 18: 51,302,989 D180G possibly damaging Het
Prss39 A G 1: 34,502,199 probably null Het
Trank1 T A 9: 111,349,363 V373D probably damaging Het
Ubn1 A G 16: 5,072,059 E186G probably damaging Het
Zmym2 T C 14: 56,946,572 V997A probably benign Het
Other mutations in Olfr599
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Olfr599 APN 7 103338767 nonsense probably null
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
R7973:Olfr599 UTSW 7 103338330 missense probably benign
Posted On2014-02-04