Incidental Mutation 'IGL02116:Olfr235'
ID280368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr235
Ensembl Gene ENSMUSG00000060049
Gene Nameolfactory receptor 235
SynonymsMOR214-3, GA_x6K02T03CT6-1-477, Olfr245, GA_x6K02T2LL2P-1028-792, Olfr232, GA_x6K02T057QT-4025-4642, MOR214-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL02116
Quality Score
Status
Chromosome19
Chromosomal Location12261032-12270387 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 12269010 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 260 (Y260C)
Ref Sequence ENSEMBL: ENSMUSP00000150313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073507] [ENSMUST00000207969] [ENSMUST00000214551] [ENSMUST00000214613] [ENSMUST00000214638] [ENSMUST00000215407]
Predicted Effect probably damaging
Transcript: ENSMUST00000073507
AA Change: Y260C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073203
Gene: ENSMUSG00000060049
AA Change: Y260C

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 3.8e-56 PFAM
Pfam:7tm_1 42 309 1.2e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207842
Predicted Effect probably damaging
Transcript: ENSMUST00000207969
AA Change: Y260C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214551
AA Change: Y260C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214613
AA Change: Y260C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214638
AA Change: Y260C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215407
AA Change: Y260C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Abcg5 A T 17: 84,673,590 N190K possibly damaging Het
Adamts19 T C 18: 58,837,499 S52P probably benign Het
Ahrr G T 13: 74,220,573 H160Q possibly damaging Het
Ap4s1 T C 12: 51,723,050 probably null Het
Atrn T C 2: 130,958,089 V462A probably damaging Het
D630003M21Rik T C 2: 158,203,210 S800G possibly damaging Het
Dach1 T G 14: 97,901,423 N528T probably damaging Het
Foxl2 T C 9: 98,956,058 M133T probably damaging Het
Grsf1 A G 5: 88,670,174 probably null Het
Gtpbp4 A G 13: 8,992,736 I43T probably damaging Het
Helz2 T C 2: 181,232,185 Y2172C probably damaging Het
Hey1 G T 3: 8,666,580 probably null Het
Hnrnph3 A T 10: 63,016,076 probably benign Het
Hps1 A T 19: 42,771,129 Y81* probably null Het
Inhba A G 13: 16,026,972 H373R probably benign Het
Leo1 T A 9: 75,449,415 I359K probably damaging Het
Mcoln3 A G 3: 146,133,909 N339D probably benign Het
Mrpl19 G A 6: 81,965,777 P51S probably benign Het
Nadk C A 4: 155,579,306 probably benign Het
Olfr1167 T A 2: 88,149,288 T244S probably benign Het
Pappa2 T G 1: 158,845,125 I1083L probably benign Het
R3hdm2 A G 10: 127,498,552 D948G probably damaging Het
Rbm15 A T 3: 107,330,280 L934Q probably damaging Het
Rec8 T A 14: 55,624,879 probably null Het
Riok1 A G 13: 38,059,956 E486G possibly damaging Het
Rptn A C 3: 93,395,097 E40A possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 T C 1: 45,911,528 T255A probably benign Het
Slc5a8 A T 10: 88,919,500 M490L probably benign Het
Sned1 C A 1: 93,281,725 C62* probably null Het
Sptbn4 T C 7: 27,364,357 T2215A probably benign Het
Synpo T A 18: 60,603,456 R234W probably damaging Het
Tmco3 A T 8: 13,292,706 probably benign Het
Tmprss13 A G 9: 45,333,674 D250G probably benign Het
Vmn2r31 T A 7: 7,394,549 I237F probably damaging Het
Wdr90 A G 17: 25,859,492 V306A probably benign Het
Zfp629 A G 7: 127,612,718 W8R probably damaging Het
Zim1 T C 7: 6,678,254 T137A probably benign Het
Other mutations in Olfr235
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03397:Olfr235 APN 19 12268502 missense probably benign 0.03
R1239:Olfr235 UTSW 19 12268976 missense probably damaging 1.00
R1416:Olfr235 UTSW 19 12268894 missense probably benign 0.09
R1441:Olfr235 UTSW 19 12268386 nonsense probably null
R1694:Olfr235 UTSW 19 12268917 missense probably damaging 1.00
R1727:Olfr235 UTSW 19 12269001 missense possibly damaging 0.70
R2422:Olfr235 UTSW 19 12268919 missense probably damaging 0.99
R3439:Olfr235 UTSW 19 12268395 missense possibly damaging 0.56
R4545:Olfr235 UTSW 19 12268824 missense possibly damaging 0.91
R4605:Olfr235 UTSW 19 12269168 makesense probably null
R5147:Olfr235 UTSW 19 12268904 missense probably damaging 1.00
R5382:Olfr235 UTSW 19 12268409 missense possibly damaging 0.62
R5717:Olfr235 UTSW 19 12269156 missense probably benign 0.13
R6455:Olfr235 UTSW 19 12268706 missense probably damaging 0.97
R6880:Olfr235 UTSW 19 12268610 missense probably benign 0.22
R7311:Olfr235 UTSW 19 12268704 missense probably benign 0.29
R7384:Olfr235 UTSW 19 12269076 missense possibly damaging 0.80
R8138:Olfr235 UTSW 19 12269072 missense possibly damaging 0.61
Posted On2015-04-16