Incidental Mutation 'IGL02395:Olfr1030'
ID294299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1030
Ensembl Gene ENSMUSG00000044923
Gene Nameolfactory receptor 1030
SynonymsGA_x6K02T2Q125-47462755-47463693, MOR196-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL02395
Quality Score
Status
Chromosome2
Chromosomal Location85979276-85988294 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85984082 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 81 (T81A)
Ref Sequence ENSEMBL: ENSMUSP00000053309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056849]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056849
AA Change: T81A

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923
AA Change: T81A

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 2.4e-58 PFAM
Pfam:7tm_1 47 296 3.2e-27 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,480,960 C540S probably damaging Het
Cdk5 A G 5: 24,419,637 V252A possibly damaging Het
Ddi2 C T 4: 141,695,414 R329Q possibly damaging Het
Dennd2c T A 3: 103,157,765 F678I probably benign Het
Ect2 T C 3: 27,150,106 D18G probably damaging Het
Efcab11 C A 12: 99,854,609 probably null Het
Eri2 T C 7: 119,787,810 E162G probably damaging Het
Fam120b T C 17: 15,402,515 S252P probably damaging Het
Filip1 G A 9: 79,898,410 P21S probably benign Het
Kmt5b T A 19: 3,814,887 D627E probably benign Het
Krt83 T C 15: 101,487,952 D254G probably benign Het
Man1a2 T C 3: 100,644,537 probably null Het
Mapk15 T C 15: 75,998,170 S380P probably benign Het
Mrpl48 G T 7: 100,546,344 probably benign Het
Nme8 T A 13: 19,677,908 I184L possibly damaging Het
Nrk A G X: 138,976,186 E712G probably damaging Het
Olfr1215 T A 2: 89,002,163 T42S probably benign Het
Olfr1347 C T 7: 6,488,803 V17M possibly damaging Het
Olfr731 C A 14: 50,238,429 G152V probably damaging Het
Plekho1 A T 3: 95,995,564 Y36* probably null Het
Slco1a5 T A 6: 142,275,487 H11L probably damaging Het
Tiam2 T A 17: 3,421,481 M466K possibly damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tnfrsf22 A T 7: 143,643,316 N95K probably damaging Het
Vmn1r90 T C 7: 14,561,897 Y92C probably damaging Het
Zc2hc1a T A 3: 7,528,624 L214* probably null Het
Zcchc17 C A 4: 130,337,127 V90F probably damaging Het
Zcchc7 T C 4: 44,761,868 probably benign Het
Zmiz1 T C 14: 25,656,763 V821A probably damaging Het
Other mutations in Olfr1030
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Olfr1030 APN 2 85984670 missense probably damaging 0.99
IGL01795:Olfr1030 APN 2 85984134 missense probably damaging 1.00
IGL03277:Olfr1030 APN 2 85984173 missense probably damaging 0.99
PIT4468001:Olfr1030 UTSW 2 85984448 missense probably benign 0.10
R0458:Olfr1030 UTSW 2 85984256 missense probably benign 0.00
R1114:Olfr1030 UTSW 2 85984307 missense probably benign
R1642:Olfr1030 UTSW 2 85983857 missense probably benign 0.00
R2189:Olfr1030 UTSW 2 85984068 missense probably damaging 1.00
R4094:Olfr1030 UTSW 2 85984218 missense probably damaging 1.00
R4246:Olfr1030 UTSW 2 85984280 missense possibly damaging 0.90
R4677:Olfr1030 UTSW 2 85983971 missense possibly damaging 0.61
R5537:Olfr1030 UTSW 2 85984226 missense possibly damaging 0.83
R6018:Olfr1030 UTSW 2 85984804 utr 3 prime probably benign
R6531:Olfr1030 UTSW 2 85984307 missense probably benign
R7367:Olfr1030 UTSW 2 85984343 missense possibly damaging 0.68
R7611:Olfr1030 UTSW 2 85984063 nonsense probably null
R7693:Olfr1030 UTSW 2 85984635 missense probably damaging 1.00
R7753:Olfr1030 UTSW 2 85984716 missense possibly damaging 0.75
Posted On2015-04-16