Incidental Mutation 'IGL02972:Olfr1384'
ID365843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1384
Ensembl Gene ENSMUSG00000044170
Gene Nameolfactory receptor 1384
SynonymsGA_x6K02T2QP88-5922712-5921756, MOR256-23
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL02972
Quality Score
Status
Chromosome11
Chromosomal Location49506724-49517345 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 49514091 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 151 (G151D)
Ref Sequence ENSEMBL: ENSMUSP00000149183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060434] [ENSMUST00000213776]
Predicted Effect probably damaging
Transcript: ENSMUST00000060434
AA Change: G151D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051954
Gene: ENSMUSG00000044170
AA Change: G151D

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 6.9e-48 PFAM
Pfam:7TM_GPCR_Srsx 34 161 4.3e-6 PFAM
Pfam:7tm_1 40 313 2.7e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213776
AA Change: G151D

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 36,978,520 I105F possibly damaging Het
Bmpr1b C T 3: 141,870,758 D105N probably benign Het
Ces2e A T 8: 104,927,061 S44C probably damaging Het
Chd7 T A 4: 8,855,174 N2134K probably benign Het
Chst15 T C 7: 132,269,173 D211G probably damaging Het
Dpp4 T C 2: 62,352,225 S571G probably damaging Het
Gna11 T C 10: 81,533,391 I113V probably benign Het
Grm3 T C 5: 9,512,410 Y480C probably damaging Het
Mccc1 C T 3: 35,985,089 V252I possibly damaging Het
Nol12 A G 15: 78,940,599 T209A probably damaging Het
Olfr622 A G 7: 103,639,894 M82T probably damaging Het
Olfr859 T C 9: 19,808,942 F208S probably damaging Het
P3h1 C A 4: 119,247,960 Q712K possibly damaging Het
Per2 T A 1: 91,423,981 E934D possibly damaging Het
Pfkl T C 10: 77,988,274 D760G probably benign Het
Piezo2 C A 18: 63,064,785 probably benign Het
Pkd1l1 C T 11: 8,863,908 R1481Q probably damaging Het
Plpp3 T C 4: 105,208,792 V189A possibly damaging Het
Pnpla1 A G 17: 28,886,947 E592G probably null Het
Prdm2 A T 4: 143,132,166 M1518K probably benign Het
Rhbdl3 G A 11: 80,331,916 probably benign Het
Rnf145 C T 11: 44,564,038 S582F probably benign Het
Rsf1 A G 7: 97,661,326 D421G probably benign Het
Serac1 A C 17: 6,070,764 L85* probably null Het
Slc43a1 T G 2: 84,860,118 V460G probably damaging Het
Slc7a6 G A 8: 106,179,427 C97Y probably damaging Het
Slco5a1 A T 1: 12,990,155 L114* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taok1 A G 11: 77,559,758 V396A probably benign Het
Tmem232 T A 17: 65,476,673 H233L probably benign Het
Tmprss11c C T 5: 86,237,833 S247N possibly damaging Het
Tnc C T 4: 63,976,478 S1557N probably benign Het
Txlng A G X: 162,807,555 M94T probably damaging Het
Ube2b A T 11: 51,988,682 I87K probably damaging Het
Ubr5 A T 15: 38,041,952 S133R probably damaging Het
Ugt1a5 C T 1: 88,166,422 T124I probably benign Het
Vamp1 G T 6: 125,219,647 R117L probably benign Het
Vmn1r87 G T 7: 13,132,329 Y10* probably null Het
Zan G A 5: 137,463,686 T1077I unknown Het
Zc2hc1b C A 10: 13,171,281 V29F probably damaging Het
Zfp597 T C 16: 3,866,523 D123G probably benign Het
Other mutations in Olfr1384
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Olfr1384 APN 11 49513910 missense probably damaging 0.98
R0157:Olfr1384 UTSW 11 49513773 missense probably damaging 1.00
R1106:Olfr1384 UTSW 11 49513692 missense probably damaging 1.00
R1213:Olfr1384 UTSW 11 49514594 makesense probably null
R3768:Olfr1384 UTSW 11 49513773 missense probably damaging 1.00
R4191:Olfr1384 UTSW 11 49513812 missense probably damaging 1.00
R4708:Olfr1384 UTSW 11 49514389 nonsense probably null
R5443:Olfr1384 UTSW 11 49514435 missense probably damaging 0.98
R5770:Olfr1384 UTSW 11 49514592 missense unknown
R6245:Olfr1384 UTSW 11 49514165 missense possibly damaging 0.94
R6336:Olfr1384 UTSW 11 49514542 missense probably damaging 0.99
R7652:Olfr1384 UTSW 11 49513685 missense probably damaging 1.00
R8070:Olfr1384 UTSW 11 49514114 missense probably damaging 1.00
R8147:Olfr1384 UTSW 11 49514223 missense probably benign 0.02
Posted On2015-12-18