Incidental Mutation 'IGL02294:Olfr203'
ID290134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr203
Ensembl Gene ENSMUSG00000068182
Gene Nameolfactory receptor 203
SynonymsMOR182-5, GA_x54KRFPKG5P-55517445-55518365
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #IGL02294
Quality Score
Status
Chromosome16
Chromosomal Location59298881-59304413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59303612 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 153 (L153P)
Ref Sequence ENSEMBL: ENSMUSP00000149906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089305] [ENSMUST00000201687] [ENSMUST00000215893]
Predicted Effect probably damaging
Transcript: ENSMUST00000089305
AA Change: L154P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086719
Gene: ENSMUSG00000068182
AA Change: L154P

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1e-46 PFAM
Pfam:7tm_1 41 290 7.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201687
AA Change: L153P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: L153P

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 3.4e-46 PFAM
Pfam:7tm_1 40 289 1.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215893
AA Change: L153P

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A G 18: 65,306,075 V749A possibly damaging Het
Col6a4 T C 9: 106,066,732 D1181G probably benign Het
Crb1 A G 1: 139,234,782 S1213P possibly damaging Het
D430041D05Rik A T 2: 104,255,006 M1066K probably benign Het
Fasn G T 11: 120,810,276 T1999N probably damaging Het
Flg2 C T 3: 93,203,746 A1027V unknown Het
Gbp5 T A 3: 142,503,827 V178E probably damaging Het
Hdac4 T C 1: 91,982,207 D445G probably benign Het
Hps3 T C 3: 20,014,048 E482G probably damaging Het
Impdh1 G A 6: 29,205,202 A200V probably benign Het
Kdm2b T C 5: 122,961,474 Y134C probably damaging Het
Ly6g T A 15: 75,158,564 I77N possibly damaging Het
Olfr183 T C 16: 59,000,065 C127R probably damaging Het
Oprk1 T G 1: 5,602,387 M249R probably damaging Het
Otud4 A G 8: 79,664,977 probably benign Het
Slc16a4 T C 3: 107,301,068 I298T probably benign Het
Sox21 A G 14: 118,235,538 M33T probably benign Het
Speer4a T A 5: 26,038,242 T82S probably benign Het
Stard13 T C 5: 151,063,115 D310G probably benign Het
Trpm6 C A 19: 18,854,063 Q1431K probably benign Het
Ufl1 T A 4: 25,259,281 K446* probably null Het
Vmn2r19 A G 6: 123,329,978 T482A probably benign Het
Other mutations in Olfr203
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02003:Olfr203 APN 16 59303633 missense probably damaging 0.99
IGL02412:Olfr203 APN 16 59303192 missense probably damaging 1.00
IGL02899:Olfr203 APN 16 59303286 missense probably damaging 1.00
R0792:Olfr203 UTSW 16 59303989 missense probably damaging 0.99
R1551:Olfr203 UTSW 16 59303403 missense probably benign 0.03
R1701:Olfr203 UTSW 16 59303288 missense probably benign 0.23
R1975:Olfr203 UTSW 16 59303728 missense probably damaging 0.98
R2272:Olfr203 UTSW 16 59303444 missense possibly damaging 0.55
R5199:Olfr203 UTSW 16 59303740 missense probably benign
R5843:Olfr203 UTSW 16 59303361 missense probably damaging 1.00
R5928:Olfr203 UTSW 16 59303158 missense probably damaging 1.00
R6708:Olfr203 UTSW 16 59304053 missense probably damaging 1.00
R6747:Olfr203 UTSW 16 59303641 missense probably benign 0.03
R6894:Olfr203 UTSW 16 59303779 missense probably damaging 0.98
R7324:Olfr203 UTSW 16 59303248 missense probably benign
R7380:Olfr203 UTSW 16 59304028 missense probably damaging 1.00
R7612:Olfr203 UTSW 16 59303627 missense probably damaging 1.00
R7775:Olfr203 UTSW 16 59303251 missense probably damaging 1.00
R8010:Olfr203 UTSW 16 59303504 missense probably damaging 1.00
Z1176:Olfr203 UTSW 16 59303169 missense probably benign 0.01
Posted On2015-04-16