Incidental Mutation 'IGL02034:Olfr1217'
ID184454
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1217
Ensembl Gene ENSMUSG00000101391
Gene Nameolfactory receptor 1217
SynonymsMOR233-4, GA_x6K02T2Q125-50504545-50503631
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02034
Quality Score
Status
Chromosome2
Chromosomal Location89021336-89032065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 89023671 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 111 (V111M)
Ref Sequence ENSEMBL: ENSMUSP00000149931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099799] [ENSMUST00000213669] [ENSMUST00000214022] [ENSMUST00000216592]
Predicted Effect probably benign
Transcript: ENSMUST00000099799
AA Change: V111M

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097387
Gene: ENSMUSG00000101391
AA Change: V111M

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 5.7e-48 PFAM
Pfam:7tm_1 39 286 6.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213669
AA Change: V111M

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000214022
AA Change: V111M

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000216592
AA Change: V111M

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A G 19: 29,716,859 S1745P possibly damaging Het
Bcor A G X: 12,039,259 S1556P possibly damaging Het
Ccdc6 T A 10: 70,169,148 I241N probably benign Het
Cd81 T C 7: 143,066,249 I48T probably damaging Het
Cfap52 A G 11: 67,946,292 probably null Het
Cfap54 T C 10: 93,061,485 M264V probably damaging Het
Cmya5 G A 13: 93,084,535 probably benign Het
Csn2 A G 5: 87,696,082 probably benign Het
Cyfip1 G A 7: 55,898,353 R567Q probably damaging Het
Ehbp1 A G 11: 22,285,486 probably null Het
Ermp1 G A 19: 29,645,959 probably benign Het
Erv3 C T 2: 131,856,014 V142I possibly damaging Het
Fzd2 A G 11: 102,604,904 N58S probably damaging Het
Gcm2 G A 13: 41,105,793 R67C probably damaging Het
Gm17019 A G 5: 15,030,252 I182T possibly damaging Het
Gpr45 T C 1: 43,033,318 *374Q probably null Het
Haus8 T C 8: 71,255,558 N165S probably damaging Het
Hoxd4 T A 2: 74,728,406 L191Q probably damaging Het
I830077J02Rik A G 3: 105,927,249 probably benign Het
Lpl T C 8: 68,880,772 L7P possibly damaging Het
Lrp1b T A 2: 41,268,370 K1612* probably null Het
Myh14 G T 7: 44,616,293 A1546D possibly damaging Het
Nbea A G 3: 55,968,156 S1698P probably damaging Het
Olfr470 G A 7: 107,845,178 T185I probably benign Het
Olfr676 C A 7: 105,035,390 T64N probably benign Het
Olfr9 A T 10: 128,990,701 Q263L probably benign Het
Otog A T 7: 46,295,993 K40* probably null Het
Rgma C A 7: 73,417,433 H145Q probably damaging Het
Rpgrip1l A T 8: 91,251,148 probably null Het
Ssxb2 T A X: 8,458,504 probably benign Het
Tmem175 C T 5: 108,642,136 T118I probably damaging Het
Wdhd1 A G 14: 47,261,351 V542A probably benign Het
Zfp977 G A 7: 42,580,712 P130S probably damaging Het
Other mutations in Olfr1217
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Olfr1217 APN 2 89023175 missense probably benign 0.00
IGL03328:Olfr1217 APN 2 89023855 nonsense probably null
R0153:Olfr1217 UTSW 2 89023196 missense probably benign 0.00
R0414:Olfr1217 UTSW 2 89023146 missense probably damaging 1.00
R0544:Olfr1217 UTSW 2 89023826 missense probably damaging 1.00
R1994:Olfr1217 UTSW 2 89023143 missense probably damaging 1.00
R2217:Olfr1217 UTSW 2 89023426 missense probably benign 0.41
R3738:Olfr1217 UTSW 2 89023610 missense probably damaging 1.00
R3794:Olfr1217 UTSW 2 89023426 missense probably benign 0.41
R3808:Olfr1217 UTSW 2 89023426 missense probably benign 0.41
R3809:Olfr1217 UTSW 2 89023426 missense probably benign 0.41
R5252:Olfr1217 UTSW 2 89023254 missense probably damaging 0.98
R5448:Olfr1217 UTSW 2 89023501 missense probably benign
Posted On2014-05-07