Incidental Mutation 'IGL03089:Olfr1218'
ID418266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1218
Ensembl Gene ENSMUSG00000075105
Gene Nameolfactory receptor 1218
SynonymsGA_x6K02T2Q125-50536041-50535106, MOR233-12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL03089
Quality Score
Status
Chromosome2
Chromosomal Location89052296-89061187 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89055013 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 138 (R138G)
Ref Sequence ENSEMBL: ENSMUSP00000149671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099798] [ENSMUST00000213609] [ENSMUST00000215048] [ENSMUST00000215054]
Predicted Effect probably benign
Transcript: ENSMUST00000099798
AA Change: R138G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097386
Gene: ENSMUSG00000075105
AA Change: R138G

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.4e-45 PFAM
Pfam:7tm_1 39 286 2.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213609
AA Change: R138G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215048
AA Change: R138G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215054
AA Change: R138G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,677,246 S947P probably damaging Het
Agl T A 3: 116,781,023 H709L probably damaging Het
Alpi T A 1: 87,100,108 D250V probably benign Het
Anapc4 A G 5: 52,866,398 S735G probably benign Het
Ank1 A T 8: 23,104,832 I611L probably benign Het
Canx A G 11: 50,304,482 V253A possibly damaging Het
Cbfa2t3 A T 8: 122,635,134 I383N probably damaging Het
Cdc23 T C 18: 34,634,460 Y519C probably damaging Het
Celsr3 T A 9: 108,826,607 N96K probably benign Het
Clptm1 A G 7: 19,637,147 Y355H probably damaging Het
Col6a5 C T 9: 105,933,839 S827N unknown Het
Cyp21a1 G T 17: 34,803,446 probably null Het
Cyp24a1 T G 2: 170,485,966 H452P probably damaging Het
Cyp2c39 T A 19: 39,563,851 H329Q probably benign Het
D630003M21Rik C T 2: 158,216,744 R412Q probably benign Het
Dennd1b G A 1: 139,102,029 R308Q possibly damaging Het
Deup1 T C 9: 15,607,800 S137G possibly damaging Het
Dmbt1 T A 7: 131,111,049 I1583N probably damaging Het
Dvl1 G A 4: 155,855,152 V320M probably damaging Het
Elmod3 A G 6: 72,569,316 S254P probably damaging Het
Emsy G A 7: 98,637,266 Q226* probably null Het
Ephb6 C A 6: 41,614,174 D88E probably damaging Het
Exoc1 A G 5: 76,542,158 M182V possibly damaging Het
Fbxw4 T G 19: 45,591,721 probably benign Het
Fgr A G 4: 132,986,266 D35G probably damaging Het
Gm13078 A G 4: 143,726,133 T45A probably benign Het
Gm20547 A T 17: 34,861,032 D366E probably damaging Het
Gucy1a1 T C 3: 82,097,681 N599S probably damaging Het
Ighg2b G A 12: 113,306,678 P240L probably damaging Het
Jak3 A G 8: 71,686,083 D975G probably benign Het
Klhl26 A T 8: 70,455,633 N24K probably benign Het
Letm1 T A 5: 33,760,858 E314D probably damaging Het
Lin54 A T 5: 100,450,993 F319L probably damaging Het
Lrp5 A T 19: 3,620,314 probably null Het
Lvrn T C 18: 46,880,709 F486S probably damaging Het
Nov C T 15: 54,749,284 R230C possibly damaging Het
Olfr378 T C 11: 73,425,183 T267A probably benign Het
Olfr631 A C 7: 103,929,122 I100L probably benign Het
Olfr93 A G 17: 37,151,643 C110R probably damaging Het
Olfr969 A T 9: 39,795,681 Y102F probably benign Het
Sap30bp T A 11: 115,957,388 M112K possibly damaging Het
Sbno1 A G 5: 124,387,311 probably benign Het
Slc30a5 T C 13: 100,813,830 I307V probably benign Het
Trim37 T A 11: 87,190,137 D21E probably damaging Het
Usp34 T C 11: 23,446,958 F614S possibly damaging Het
Usp39 A C 6: 72,328,639 F387C probably damaging Het
Vipas39 C T 12: 87,253,254 C149Y probably damaging Het
Vmn2r107 C A 17: 20,375,712 H842Q probably benign Het
Vps18 T A 2: 119,293,177 V195E probably benign Het
Vsx1 A G 2: 150,685,590 probably benign Het
Other mutations in Olfr1218
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01652:Olfr1218 APN 2 89054569 missense probably damaging 1.00
IGL03387:Olfr1218 APN 2 89055113 missense probably damaging 1.00
R0350:Olfr1218 UTSW 2 89055356 missense probably benign 0.10
R0699:Olfr1218 UTSW 2 89055292 missense possibly damaging 0.67
R1609:Olfr1218 UTSW 2 89055344 missense probably benign
R1856:Olfr1218 UTSW 2 89054859 missense possibly damaging 0.95
R1972:Olfr1218 UTSW 2 89054547 missense probably benign 0.05
R2066:Olfr1218 UTSW 2 89054899 missense probably damaging 0.99
R2921:Olfr1218 UTSW 2 89054499 missense probably benign 0.04
R2923:Olfr1218 UTSW 2 89054499 missense probably benign 0.04
R4037:Olfr1218 UTSW 2 89054688 missense probably damaging 0.99
R4585:Olfr1218 UTSW 2 89055154 missense possibly damaging 0.77
R4586:Olfr1218 UTSW 2 89055154 missense possibly damaging 0.77
R5041:Olfr1218 UTSW 2 89054921 nonsense probably null
R5124:Olfr1218 UTSW 2 89055087 missense probably damaging 0.96
R5138:Olfr1218 UTSW 2 89054947 missense probably benign 0.00
R5415:Olfr1218 UTSW 2 89054896 missense probably benign 0.00
R5501:Olfr1218 UTSW 2 89054886 nonsense probably null
R5941:Olfr1218 UTSW 2 89054619 missense probably benign
R5991:Olfr1218 UTSW 2 89054782 missense probably benign 0.01
R6396:Olfr1218 UTSW 2 89055297 missense probably benign 0.36
R7047:Olfr1218 UTSW 2 89055146 missense probably damaging 0.98
R8038:Olfr1218 UTSW 2 89054868 missense probably damaging 1.00
R8387:Olfr1218 UTSW 2 89055302 missense probably benign
Posted On2016-08-02