Incidental Mutation 'IGL00341:Olfr1216'
ID7126
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: 0.056) question?
Stock #IGL00341
Quality Score
Status
Chromosome2
Chromosomal Location89007563-89018340 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89013924 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 47 (I47V)
Ref Sequence ENSEMBL: ENSMUSP00000149441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099800] [ENSMUST00000216000] [ENSMUST00000217000]
Predicted Effect probably benign
Transcript: ENSMUST00000099800
AA Change: I47V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: I47V

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.8e-46 PFAM
Pfam:7tm_1 39 286 4.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216000
AA Change: I47V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000217000
AA Change: I47V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 T A 6: 43,280,269 Y519* probably null Het
Bahcc1 A G 11: 120,272,304 Y476C probably damaging Het
Bclaf1 A T 10: 20,325,999 E295D probably damaging Het
Bend3 A G 10: 43,511,543 D644G probably damaging Het
Ccdc122 G A 14: 77,091,739 M77I probably benign Het
Ccna1 A G 3: 55,050,655 V143A probably damaging Het
Dnah11 T C 12: 118,198,745 R30G probably benign Het
Hoxc4 A G 15: 103,035,838 D214G probably damaging Het
Itsn2 A T 12: 4,658,027 T778S possibly damaging Het
Kcnn2 A G 18: 45,677,071 probably benign Het
Krtap5-3 G T 7: 142,201,875 probably benign Het
Lgr5 G T 10: 115,454,464 Q516K possibly damaging Het
Lrpprc T C 17: 84,750,525 K759R possibly damaging Het
Mtfr2 A G 10: 20,357,648 D321G probably damaging Het
Nip7 A G 8: 107,057,170 Y45C possibly damaging Het
Pak1ip1 A T 13: 41,008,018 T84S possibly damaging Het
Ptpn20 C A 14: 33,622,619 R167S probably benign Het
Rab4b C T 7: 27,172,726 G190S probably damaging Het
Ropn1l T A 15: 31,443,349 D179V probably damaging Het
Shc2 C T 10: 79,621,069 R571Q probably damaging Het
Smad1 A G 8: 79,356,469 V134A probably damaging Het
Smad6 A G 9: 63,953,981 V344A probably damaging Het
Tet2 A G 3: 133,488,085 L196P possibly damaging Het
Tmem64 T A 4: 15,266,694 V248E probably damaging Het
Ttc7 C T 17: 87,363,564 T709I possibly damaging Het
Usp31 A G 7: 121,706,670 L195P probably damaging Het
Vmn2r112 G A 17: 22,618,936 V793I probably benign Het
Xpo5 T G 17: 46,225,047 L535R probably damaging Het
Ythdc2 A T 18: 44,850,397 M544L probably benign Het
Other mutations in Olfr1216
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Olfr1216 APN 2 89013609 missense probably benign 0.13
IGL01634:Olfr1216 APN 2 89013444 missense probably damaging 0.99
IGL01844:Olfr1216 APN 2 89013470 missense possibly damaging 0.95
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 On2012-04-20