Incidental Mutation 'IGL01844:Olfr1216'
ID178124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1216
Ensembl Gene ENSMUSG00000075107
Gene Nameolfactory receptor 1216
SynonymsGA_x6K02T2Q125-50494588-50493653, MOR233-9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01844
Quality Score
Status
Chromosome2
Chromosomal Location89007563-89018340 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89013470 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 198 (V198E)
Ref Sequence ENSEMBL: ENSMUSP00000149441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099800] [ENSMUST00000216000] [ENSMUST00000217000]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099800
AA Change: V198E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: V198E

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.8e-46 PFAM
Pfam:7tm_1 39 286 4.2e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216000
AA Change: V198E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217000
AA Change: V198E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218738
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
2900055J20Rik A G 18: 40,257,320 I115M probably damaging Het
Abcg5 A G 17: 84,682,025 I85T probably damaging Het
Amer2 A G 14: 60,379,907 D391G possibly damaging Het
Atp13a3 A T 16: 30,361,963 C83S probably benign Het
Bdh2 A T 3: 135,288,319 Q54L probably benign Het
Cep128 A G 12: 91,008,854 S1051P probably benign Het
Dopey1 A G 9: 86,514,085 T865A probably damaging Het
Epha8 C A 4: 136,931,049 *1005L probably null Het
Etl4 T C 2: 20,806,682 V1509A probably benign Het
Gucy1b1 T C 3: 82,046,526 E161G possibly damaging Het
Hepacam T A 9: 37,380,616 V80E probably damaging Het
Ireb2 A G 9: 54,865,357 K24E probably benign Het
Itch T A 2: 155,172,547 D101E possibly damaging Het
Itch T A 2: 155,172,486 F81Y possibly damaging Het
Klf7 C A 1: 64,078,774 Q221H probably benign Het
Kptn A G 7: 16,123,972 T242A probably benign Het
Macf1 A G 4: 123,440,692 F4420S probably benign Het
Mthfd2 A G 6: 83,311,810 probably null Het
Mtrf1l A C 10: 5,814,112 L284V probably null Het
Neb C T 2: 52,170,549 V2259I probably benign Het
Olfr1499 A T 19: 13,814,816 M258K possibly damaging Het
Padi1 A T 4: 140,829,435 C154S probably damaging Het
Paxip1 T C 5: 27,751,038 T903A probably benign Het
Phactr2 T A 10: 13,253,437 L292F probably benign Het
Pkhd1l1 G A 15: 44,499,400 probably benign Het
Pnpla7 T C 2: 25,050,973 probably null Het
Rif1 T A 2: 52,112,543 I2003K probably benign Het
Rxfp3 A T 15: 11,037,046 V80E probably damaging Het
Sart3 T A 5: 113,745,648 K768* probably null Het
Slc35f5 C T 1: 125,589,875 T470I probably damaging Het
Smg8 A T 11: 87,080,276 Y890N probably damaging Het
Spata31 T C 13: 64,921,154 V372A possibly damaging Het
Tbc1d30 A T 10: 121,267,179 D649E probably benign Het
Tctn3 G A 19: 40,612,137 T3I probably damaging Het
Tns3 G A 11: 8,437,177 P1337S possibly damaging Het
Vmn2r15 T A 5: 109,286,269 *856C probably null Het
Vmn2r61 A T 7: 42,260,215 I55F probably benign Het
Zbtb41 C T 1: 139,447,327 P842S probably benign Het
Zc3h13 A G 14: 75,343,769 probably benign Het
Other mutations in Olfr1216
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Olfr1216 APN 2 89013924 missense probably benign 0.22
IGL00895:Olfr1216 APN 2 89013609 missense probably benign 0.13
IGL01634:Olfr1216 APN 2 89013444 missense probably damaging 0.99
IGL02036:Olfr1216 APN 2 89013479 missense probably benign 0.00
IGL02102:Olfr1216 APN 2 89013126 utr 3 prime probably benign
IGL02194:Olfr1216 APN 2 89013887 missense probably damaging 1.00
IGL02483:Olfr1216 APN 2 89013203 missense probably damaging 1.00
IGL02745:Olfr1216 APN 2 89013888 missense probably damaging 1.00
IGL02829:Olfr1216 APN 2 89013677 missense probably damaging 1.00
IGL03113:Olfr1216 APN 2 89014035 missense probably damaging 1.00
IGL03324:Olfr1216 APN 2 89013559 nonsense probably null
R0102:Olfr1216 UTSW 2 89013671 missense probably damaging 1.00
R0304:Olfr1216 UTSW 2 89013288 missense probably damaging 1.00
R1184:Olfr1216 UTSW 2 89013713 missense probably damaging 0.99
R1484:Olfr1216 UTSW 2 89013369 nonsense probably null
R1560:Olfr1216 UTSW 2 89013206 missense probably damaging 1.00
R1823:Olfr1216 UTSW 2 89013378 missense probably benign 0.02
R1911:Olfr1216 UTSW 2 89013221 missense probably damaging 1.00
R2245:Olfr1216 UTSW 2 89013149 missense probably benign
R2331:Olfr1216 UTSW 2 89013921 missense probably benign
R3859:Olfr1216 UTSW 2 89014061 start codon destroyed probably null 1.00
R4579:Olfr1216 UTSW 2 89013144 missense probably benign
R5022:Olfr1216 UTSW 2 89014043 missense probably damaging 0.96
R5353:Olfr1216 UTSW 2 89013755 missense probably benign 0.00
R5894:Olfr1216 UTSW 2 89014055 missense probably damaging 1.00
R6240:Olfr1216 UTSW 2 89013626 missense probably benign 0.03
R7101:Olfr1216 UTSW 2 89013980 missense possibly damaging 0.90
R7652:Olfr1216 UTSW 2 89013549 missense probably benign 0.01
R8243:Olfr1216 UTSW 2 89013707 missense probably benign 0.39
R8752:Olfr1216 UTSW 2 89013887 missense probably damaging 1.00
Posted On2014-05-07