Incidental Mutation 'IGL00955:Olfr598'
ID27874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr598
Ensembl Gene ENSMUSG00000073951
Gene Nameolfactory receptor 598
SynonymsGA_x6K02T2PBJ9-6037823-6038782, MOR23-4P, MOR23-5
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.296) question?
Stock #IGL00955
Quality Score
Status
Chromosome7
Chromosomal Location103323568-103329888 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 103329321 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 278 (H278Q)
Ref Sequence ENSEMBL: ENSMUSP00000149199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098202] [ENSMUST00000214765]
Predicted Effect probably damaging
Transcript: ENSMUST00000098202
AA Change: H278Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100474
Gene: ENSMUSG00000073951
AA Change: H278Q

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 2.3e-89 PFAM
Pfam:7TM_GPCR_Srsx 41 312 9e-7 PFAM
Pfam:7tm_1 47 297 2e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214765
AA Change: H278Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,311,242 Q167L probably benign Het
Ces3a T A 8: 105,050,570 V175E probably damaging Het
Cherp C T 8: 72,470,194 E140K probably damaging Het
Clpx A T 9: 65,324,270 T546S probably damaging Het
Csgalnact2 A G 6: 118,129,264 L31P probably damaging Het
Cxcr1 A T 1: 74,192,220 F214L probably benign Het
Cyp2c67 T A 19: 39,643,385 T123S possibly damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dzank1 G A 2: 144,490,174 T414I probably benign Het
Erich3 A G 3: 154,748,519 I641V probably benign Het
Gtf2e1 A T 16: 37,535,920 D83E possibly damaging Het
Hars2 T C 18: 36,789,357 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh2 T C 5: 24,324,966 D372G probably damaging Het
Kcnk2 A T 1: 189,243,014 I264N probably damaging Het
Kctd4 A G 14: 75,963,228 D213G probably damaging Het
Lhx9 T C 1: 138,828,680 T323A possibly damaging Het
Lilra6 C A 7: 3,911,404 probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Mov10l1 A G 15: 88,994,989 Y184C probably damaging Het
Mrpl24 T A 3: 87,922,219 L91* probably null Het
Mup11 C T 4: 60,659,550 R175H probably benign Het
Nbea T C 3: 56,005,472 K965E possibly damaging Het
Papss1 G A 3: 131,599,949 E252K probably benign Het
Robo2 A T 16: 74,015,972 L278Q probably damaging Het
Sned1 A T 1: 93,274,403 I638F probably damaging Het
Spin1 T C 13: 51,144,541 probably null Het
Taar9 T C 10: 24,109,531 T2A probably benign Het
Tbc1d8b T C X: 139,725,880 probably null Het
Other mutations in Olfr598
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01911:Olfr598 APN 7 103329273 missense probably benign 0.30
IGL02225:Olfr598 APN 7 103329166 missense probably damaging 1.00
IGL02687:Olfr598 APN 7 103329400 nonsense probably null
IGL03214:Olfr598 APN 7 103328666 missense possibly damaging 0.95
R0544:Olfr598 UTSW 7 103328651 missense probably damaging 1.00
R0555:Olfr598 UTSW 7 103328963 missense probably benign
R1081:Olfr598 UTSW 7 103329038 missense probably damaging 1.00
R1802:Olfr598 UTSW 7 103328647 missense probably benign 0.09
R2092:Olfr598 UTSW 7 103329109 missense probably damaging 1.00
R2197:Olfr598 UTSW 7 103328624 nonsense probably null
R3974:Olfr598 UTSW 7 103329078 missense probably damaging 0.98
R4227:Olfr598 UTSW 7 103328819 missense probably damaging 0.97
R4809:Olfr598 UTSW 7 103328523 nonsense probably null
R4977:Olfr598 UTSW 7 103328833 missense probably benign 0.00
R5324:Olfr598 UTSW 7 103329050 missense probably damaging 1.00
R5478:Olfr598 UTSW 7 103328825 missense probably damaging 1.00
R6238:Olfr598 UTSW 7 103328908 missense possibly damaging 0.95
R6797:Olfr598 UTSW 7 103329121 missense probably benign
R7062:Olfr598 UTSW 7 103329086 missense probably benign 0.10
R7079:Olfr598 UTSW 7 103329184 missense probably benign 0.00
R7539:Olfr598 UTSW 7 103328494 missense probably benign 0.01
Posted On2013-04-17