Incidental Mutation 'IGL01795:Olfr1030'
ID155312
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 #IGL01795
Quality Score
Status
Chromosome2
Chromosomal Location85979276-85988294 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85984134 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 98 (I98N)
Ref Sequence ENSEMBL: ENSMUSP00000053309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056849]
Predicted Effect probably damaging
Transcript: ENSMUST00000056849
AA Change: I98N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923
AA Change: I98N

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451G09Rik T G 16: 4,974,071 noncoding transcript Het
4930572O03Rik C A 5: 15,656,886 probably benign Het
4930590J08Rik C T 6: 91,918,112 R263* probably null Het
Arfgef1 A T 1: 10,147,528 I1562K probably benign Het
B4galt1 T A 4: 40,807,760 D347V probably damaging Het
Ccdc178 T A 18: 22,019,118 R646S probably benign Het
Ccr1 A T 9: 123,964,112 L127* probably null Het
Cd109 A G 9: 78,661,765 probably benign Het
Chd6 A G 2: 160,961,374 V2128A probably benign Het
Chil6 T A 3: 106,388,792 I376F probably damaging Het
Chit1 T C 1: 134,148,429 S275P probably damaging Het
Erap1 T A 13: 74,666,090 probably null Het
F5 T C 1: 164,194,390 V1478A probably benign Het
Fras1 G T 5: 96,778,045 V3703F probably damaging Het
Hmmr C T 11: 40,721,734 M185I probably benign Het
Kcnu1 A G 8: 25,913,705 Y8C probably damaging Het
Krt16 A G 11: 100,247,724 probably benign Het
Mcf2l A G 8: 13,000,749 probably null Het
Mgat5 C T 1: 127,469,231 R572W probably damaging Het
Neil2 T C 14: 63,188,750 D57G probably benign Het
Nom1 A G 5: 29,446,871 T736A probably benign Het
Olfr1301 A T 2: 111,754,386 M46L probably benign Het
Olfr414 A T 1: 174,430,649 I74F possibly damaging Het
Prr14l A T 5: 32,831,845 probably benign Het
Sall1 A G 8: 89,028,680 S1224P probably benign Het
Slc44a2 A C 9: 21,345,349 K336Q probably damaging Het
Sptan1 C T 2: 30,018,489 T1754I probably benign Het
Zdhhc5 T C 2: 84,690,046 S596G probably benign Het
Other mutations in Olfr1030
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Olfr1030 APN 2 85984670 missense probably damaging 0.99
IGL02395:Olfr1030 APN 2 85984082 missense possibly damaging 0.76
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 On2014-02-04