Incidental Mutation 'IGL02409:Olfr1215'
ID292221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1215
Ensembl Gene ENSMUSG00000100016
Gene Nameolfactory receptor 1215
SynonymsGA_x6K02T2Q125-50482823-50481885, MOR233-13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL02409
Quality Score
Status
Chromosome2
Chromosomal Location89000021-89006973 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 89001910 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 126 (C126Y)
Ref Sequence ENSEMBL: ENSMUSP00000150030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000188399] [ENSMUST00000214809] [ENSMUST00000216271]
Predicted Effect possibly damaging
Transcript: ENSMUST00000188399
AA Change: C126Y

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141134
Gene: ENSMUSG00000100016
AA Change: C126Y

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
Pfam:7tm_1 39 286 1.9e-25 PFAM
Pfam:7tm_4 138 283 1.7e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214809
AA Change: C126Y

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216271
AA Change: C126Y

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp4 T A 18: 15,399,725 M104L probably benign Het
Cdkn1a T C 17: 29,098,454 V16A probably benign Het
Celsr2 C A 3: 108,413,955 V514F probably damaging Het
Cmya5 T C 13: 93,090,198 N2794S probably damaging Het
Dnmt1 T C 9: 20,926,497 T281A probably benign Het
Dock2 A T 11: 34,501,204 N840K probably benign Het
Dscam T C 16: 96,819,888 N540S possibly damaging Het
Elavl1 A T 8: 4,289,838 I248N possibly damaging Het
Fam120a A G 13: 48,967,359 V157A probably benign Het
Fcrls G A 3: 87,252,723 P408L probably benign Het
Gpr1 T A 1: 63,183,716 N120I probably damaging Het
Grin2b T A 6: 136,043,908 M132L possibly damaging Het
Herc2 T A 7: 56,220,469 probably null Het
Lrp1b T G 2: 41,445,196 K778T possibly damaging Het
Mapk10 T A 5: 102,928,230 E389D possibly damaging Het
Ms4a7 G T 19: 11,324,443 Y62* probably null Het
Muc5b A G 7: 141,861,338 T2674A possibly damaging Het
Nbeal1 T C 1: 60,329,335 L2613P probably benign Het
Ncapg2 A T 12: 116,420,717 Y266F probably damaging Het
Olfr127 T C 17: 37,903,788 Y81H probably damaging Het
Olfr342 T A 2: 36,528,153 V247E probably damaging Het
Olfr512 A G 7: 108,714,159 I269V probably benign Het
Pkd1 T A 17: 24,573,623 I1428N probably benign Het
Ppil4 T C 10: 7,798,564 probably benign Het
Rev3l T C 10: 39,821,148 V547A possibly damaging Het
Rgsl1 T C 1: 153,826,243 K155R possibly damaging Het
Skap2 T C 6: 51,907,958 D234G possibly damaging Het
Sult2a4 C T 7: 13,984,919 W133* probably null Het
Tbc1d2b C T 9: 90,222,352 S579N probably benign Het
Tdrkh T A 3: 94,430,612 probably benign Het
Thumpd2 A T 17: 81,032,688 F377L probably damaging Het
Tmem132d T C 5: 127,784,888 D723G probably damaging Het
Tnfrsf23 A T 7: 143,668,571 L168Q probably damaging Het
Ttn T C 2: 76,954,630 T818A unknown Het
Uox A T 3: 146,624,626 D130V probably benign Het
Vmn2r45 T C 7: 8,485,728 Y101C probably benign Het
Wdr1 C T 5: 38,531,110 D161N probably benign Het
Other mutations in Olfr1215
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Olfr1215 APN 2 89001339 utr 3 prime probably benign
IGL02395:Olfr1215 APN 2 89002163 missense probably benign 0.00
IGL02399:Olfr1215 APN 2 89002163 missense probably benign 0.00
IGL02421:Olfr1215 APN 2 89001344 unclassified probably null
IGL03036:Olfr1215 APN 2 89002115 missense possibly damaging 0.94
R2036:Olfr1215 UTSW 2 89001632 missense probably damaging 0.97
R2199:Olfr1215 UTSW 2 89001550 missense probably damaging 0.98
R3930:Olfr1215 UTSW 2 89002033 missense probably benign 0.32
R4990:Olfr1215 UTSW 2 89001472 missense probably damaging 0.97
R5199:Olfr1215 UTSW 2 89001763 missense possibly damaging 0.70
R5368:Olfr1215 UTSW 2 89002091 missense probably damaging 1.00
R5396:Olfr1215 UTSW 2 89002196 missense probably benign 0.15
R6881:Olfr1215 UTSW 2 89001937 missense probably damaging 1.00
R7195:Olfr1215 UTSW 2 89001731 missense
Z1088:Olfr1215 UTSW 2 89001838 missense possibly damaging 0.94
Posted On2015-04-16