Incidental Mutation 'IGL03277:Olfr1030'
ID415447
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: 0.095) question?
Stock #IGL03277
Quality Score
Status
Chromosome2
Chromosomal Location85979276-85988294 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85984173 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 111 (I111T)
Ref Sequence ENSEMBL: ENSMUSP00000053309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056849]
Predicted Effect probably damaging
Transcript: ENSMUST00000056849
AA Change: I111T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923
AA Change: I111T

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amt A G 9: 108,301,219 T342A probably benign Het
B3glct T C 5: 149,726,834 L134P probably damaging Het
Bms1 A T 6: 118,405,122 M485K probably benign Het
Chd6 T C 2: 160,983,061 N1226S probably null Het
Cpne2 T C 8: 94,548,372 Y3H probably benign Het
Dmxl2 A G 9: 54,404,220 V1739A probably damaging Het
Dnah7a T A 1: 53,630,322 T543S probably benign Het
Dock11 T G X: 36,013,950 V1000G probably benign Het
Ednrb T A 14: 103,843,299 N60Y probably benign Het
Eif3d A G 15: 77,959,649 M499T possibly damaging Het
Elmod1 G A 9: 53,925,988 L178F probably damaging Het
Fam214a G A 9: 75,009,232 R371Q probably damaging Het
Hrh4 T C 18: 13,015,883 S101P probably damaging Het
Ift172 A G 5: 31,267,298 V684A possibly damaging Het
Mtx2 A G 2: 74,868,404 T124A probably damaging Het
Nat3 T A 8: 67,547,689 H73Q probably benign Het
Ndst2 A G 14: 20,730,166 L2P possibly damaging Het
Nipsnap3a G T 4: 52,997,219 A162S probably benign Het
Olfr47 T G 6: 43,235,942 C111W probably damaging Het
Peg3 T C 7: 6,711,674 D183G probably damaging Het
Prlr A G 15: 10,328,801 E454G probably benign Het
Prom1 G A 5: 44,032,971 Q364* probably null Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sema5b A G 16: 35,651,312 D425G probably damaging Het
Slc16a7 A T 10: 125,230,691 C360S probably benign Het
Slc38a7 T A 8: 95,848,476 I59F probably damaging Het
Slc5a6 A G 5: 31,038,028 C449R possibly damaging Het
Slc9b1 T C 3: 135,390,508 Y357H possibly damaging Het
Snx17 A T 5: 31,195,740 probably benign Het
Stk32b A C 5: 37,628,976 M48R probably damaging Het
Tspan9 A G 6: 127,967,075 probably null Het
Tst A T 15: 78,405,321 N171K probably damaging Het
Vmn1r180 T A 7: 23,953,285 I291N probably damaging Het
Vmn2r32 T A 7: 7,474,252 D380V probably benign Het
Wdfy4 T C 14: 33,068,904 T2189A probably benign Het
Zbtb20 A G 16: 43,618,437 N640S possibly damaging Het
Zfp142 A G 1: 74,571,034 S1098P 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
IGL02395:Olfr1030 APN 2 85984082 missense possibly damaging 0.76
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 On2016-08-02