Incidental Mutation 'IGL01458:Olfr389'
ID84886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr389
Ensembl Gene ENSMUSG00000070383
Gene Nameolfactory receptor 389
SynonymsMOR135-6, GA_x6K02T2P1NL-3932085-3931147
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01458
Quality Score
Status
Chromosome11
Chromosomal Location73774849-73780713 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 73776706 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 207 (I207N)
Ref Sequence ENSEMBL: ENSMUSP00000149734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122224] [ENSMUST00000124927] [ENSMUST00000215418]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118611
Predicted Effect probably benign
Transcript: ENSMUST00000122224
AA Change: I207N

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113364
Gene: ENSMUSG00000070383
AA Change: I207N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.8e-56 PFAM
Pfam:7TM_GPCR_Srsx 35 305 4.2e-6 PFAM
Pfam:7tm_1 41 290 2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124927
AA Change: I207N

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115639
Gene: ENSMUSG00000070383
AA Change: I207N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 221 6.6e-7 PFAM
Pfam:7tm_1 41 224 3.5e-29 PFAM
Pfam:7tm_4 139 224 1.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215418
AA Change: I207N

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik A T 9: 3,134,008 noncoding transcript Het
Akap12 A G 10: 4,354,060 E290G probably damaging Het
Akap6 T A 12: 52,886,818 C364* probably null Het
Akr1c18 A T 13: 4,137,144 Y198N probably damaging Het
Aurka T C 2: 172,368,979 probably benign Het
Bloc1s6 T A 2: 122,744,215 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Csn2 T C 5: 87,696,020 probably benign Het
Dsc1 T C 18: 20,099,138 E271G probably damaging Het
Evi5 G A 5: 107,815,647 A354V probably damaging Het
Fcer2a T A 8: 3,688,151 R137S probably benign Het
Fto A G 8: 91,441,716 T266A probably benign Het
Fzd4 G A 7: 89,404,735 V17I unknown Het
Gadd45b T C 10: 80,931,241 L105P probably damaging Het
Galntl6 T C 8: 58,427,709 S137G probably damaging Het
Gm2022 A T 12: 87,895,388 K7* probably null Het
Gm5771 T G 6: 41,396,687 D161E probably benign Het
Gpr135 T C 12: 72,069,668 M442V probably benign Het
Kcnq1 T A 7: 143,194,278 Y330* probably null Het
Kdm5b A G 1: 134,621,986 R1106G possibly damaging Het
Lrrc8e C T 8: 4,236,141 R789W probably damaging Het
Myo16 T C 8: 10,435,853 L644P probably damaging Het
Nbeal1 G T 1: 60,242,625 probably null Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1118 C T 2: 87,309,482 T251I probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Ovgp1 A G 3: 105,974,991 N70D probably benign Het
Panx3 A T 9: 37,661,147 M369K probably damaging Het
Plet1 A G 9: 50,494,717 N52S probably benign Het
Psg18 A T 7: 18,354,816 M1K probably null Het
Ptprz1 A T 6: 22,972,844 D251V probably damaging Het
Serpinb6a A G 13: 33,930,081 Y88H possibly damaging Het
Siglecf G A 7: 43,355,138 R297Q possibly damaging Het
Tbx15 T C 3: 99,316,228 V244A probably damaging Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Trim39 A G 17: 36,263,963 probably benign Het
Vps37c T C 19: 10,710,417 C81R probably damaging Het
Wdr62 A T 7: 30,241,762 S744T probably benign Het
Zyg11a G A 4: 108,204,902 T234I probably damaging Het
Other mutations in Olfr389
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Olfr389 APN 11 73777075 missense probably benign 0.41
IGL01771:Olfr389 APN 11 73776664 missense probably damaging 1.00
IGL02535:Olfr389 APN 11 73776616 missense probably benign 0.00
IGL02639:Olfr389 APN 11 73776545 missense probably benign 0.21
IGL03060:Olfr389 APN 11 73776463 missense probably damaging 1.00
IGL03075:Olfr389 APN 11 73776472 missense probably damaging 1.00
R0081:Olfr389 UTSW 11 73777109 missense possibly damaging 0.59
R0426:Olfr389 UTSW 11 73776437 missense probably benign 0.13
R1140:Olfr389 UTSW 11 73776854 missense probably benign
R1638:Olfr389 UTSW 11 73777148 missense possibly damaging 0.95
R2001:Olfr389 UTSW 11 73776713 missense probably benign
R2214:Olfr389 UTSW 11 73776829 nonsense probably null
R3076:Olfr389 UTSW 11 73776640 missense possibly damaging 0.93
R3077:Olfr389 UTSW 11 73776640 missense possibly damaging 0.93
R3078:Olfr389 UTSW 11 73776640 missense possibly damaging 0.93
R3081:Olfr389 UTSW 11 73777225 missense probably damaging 1.00
R3430:Olfr389 UTSW 11 73776539 missense probably damaging 1.00
R3731:Olfr389 UTSW 11 73776739 missense probably benign 0.08
R4090:Olfr389 UTSW 11 73776841 missense probably damaging 1.00
R4303:Olfr389 UTSW 11 73776838 missense possibly damaging 0.78
R4516:Olfr389 UTSW 11 73777040 missense probably benign 0.06
R4556:Olfr389 UTSW 11 73776481 missense possibly damaging 0.65
R4557:Olfr389 UTSW 11 73776481 missense possibly damaging 0.65
R4775:Olfr389 UTSW 11 73776551 missense probably damaging 1.00
R4858:Olfr389 UTSW 11 73776546 missense probably benign 0.44
R5015:Olfr389 UTSW 11 73777181 missense probably benign 0.07
R5087:Olfr389 UTSW 11 73777258 missense possibly damaging 0.75
R6599:Olfr389 UTSW 11 73776680 missense probably benign
R6701:Olfr389 UTSW 11 73776470 missense probably damaging 1.00
R6784:Olfr389 UTSW 11 73776850 missense probably damaging 1.00
R6916:Olfr389 UTSW 11 73777069 missense probably benign 0.00
R7066:Olfr389 UTSW 11 73777192 missense probably damaging 0.99
R7226:Olfr389 UTSW 11 73776677 missense possibly damaging 0.95
R7457:Olfr389 UTSW 11 73776826 missense probably benign 0.06
R7486:Olfr389 UTSW 11 73777021 missense probably damaging 1.00
R7990:Olfr389 UTSW 11 73776671 missense probably benign 0.00
R8289:Olfr389 UTSW 11 73777013 missense probably benign
Posted On2013-11-11