Incidental Mutation 'IGL02829:Olfr1216'
ID361333
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: 0.055) question?
Stock #IGL02829
Quality Score
Status
Chromosome2
Chromosomal Location89007563-89018340 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 89013677 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Tryptophan at position 129 (L129W)
Ref Sequence ENSEMBL: ENSMUSP00000149441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099800] [ENSMUST00000216000] [ENSMUST00000217000]
Predicted Effect probably damaging
Transcript: ENSMUST00000099800
AA Change: L129W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: L129W

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.8e-46 PFAM
Pfam:7tm_1 39 286 4.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216000
AA Change: L129W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217000
AA Change: L129W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,579,484 T303A probably damaging Het
Bet1 T A 6: 4,086,795 M1L probably benign Het
Bicc1 A C 10: 70,958,880 V149G probably damaging Het
Braf C A 6: 39,627,728 L655F possibly damaging Het
Cd101 A G 3: 101,018,565 probably benign Het
Cobll1 T C 2: 65,126,045 K290E probably damaging Het
Col6a5 A T 9: 105,934,307 I671K unknown Het
D130052B06Rik A C 11: 33,623,864 T154P probably benign Het
Dglucy A C 12: 100,871,404 H602P probably damaging Het
Fbxo34 A G 14: 47,529,689 I220V probably benign Het
Gm42878 A G 5: 121,537,203 V101A probably damaging Het
Gsdmc4 A G 15: 63,892,648 L381P probably benign Het
Ifi208 C A 1: 173,682,840 P187H probably damaging Het
Lrrc37a A T 11: 103,491,174 C2473S unknown Het
Miip T A 4: 147,863,061 N214I probably benign Het
Mrc2 A G 11: 105,336,707 T589A possibly damaging Het
Mtss1 A G 15: 59,058,428 probably benign Het
Mypn T C 10: 63,192,586 R233G probably benign Het
Naip6 A T 13: 100,300,765 C417S probably benign Het
Olfr1084 T A 2: 86,639,255 Y151F possibly damaging Het
Olfr275 C T 4: 52,826,027 P210L probably damaging Het
Pcsk1 T C 13: 75,126,836 Y515H probably damaging Het
Pla2g2e T A 4: 138,880,436 Y42* probably null Het
Polh A T 17: 46,172,902 L479Q possibly damaging Het
Prr36 T A 8: 4,215,278 R157S possibly damaging Het
Reck T A 4: 43,891,014 C51S probably damaging Het
Rev3l A G 10: 39,825,240 D1911G probably damaging Het
Scgb1b27 A T 7: 34,021,748 probably null Het
Sema4g G A 19: 44,992,749 R47Q possibly damaging Het
Serinc1 A T 10: 57,523,965 Y158* probably null Het
Slc15a2 C A 16: 36,757,193 G435C possibly damaging Het
Tbc1d17 C A 7: 44,848,872 probably benign Het
Tenm4 C T 7: 96,894,998 Q2074* probably null Het
Tns3 A G 11: 8,519,564 C244R probably damaging Het
Vmn2r2 A T 3: 64,118,751 probably benign Het
Vmn2r44 T A 7: 8,377,880 Q338L possibly damaging Het
Wdr70 C T 15: 7,976,982 D363N possibly damaging Het
Yipf7 A T 5: 69,541,091 S24R 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
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
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 On2015-12-18