Incidental Mutation 'IGL02412:Olfr203'
ID294368
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: 0.106) question?
Stock #IGL02412
Quality Score
Status
Chromosome16
Chromosomal Location59298881-59304413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59303192 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 13 (L13H)
Ref Sequence ENSEMBL: ENSMUSP00000149906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089305] [ENSMUST00000201687] [ENSMUST00000215893]
Predicted Effect probably damaging
Transcript: ENSMUST00000089305
AA Change: L14H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086719
Gene: ENSMUSG00000068182
AA Change: L14H

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: L13H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: L13H

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: L13H

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,628,872 F2032L possibly damaging Het
Caps2 T C 10: 112,204,036 probably null Het
Ccdc88b A T 19: 6,846,644 F1414I probably damaging Het
Cr1l T G 1: 195,114,772 Y319S probably damaging Het
Cr1l C T 1: 195,114,766 G283E probably damaging Het
Csmd2 G A 4: 128,513,372 probably benign Het
Dhx37 T A 5: 125,431,628 K81M probably damaging Het
Dzip3 T A 16: 48,958,457 M326L probably benign Het
Exosc10 A G 4: 148,568,392 D488G probably benign Het
Gm2058 G A 7: 39,589,033 noncoding transcript Het
Gm43638 T A 5: 87,486,136 Q204L possibly damaging Het
Gm4847 T C 1: 166,641,738 D119G probably damaging Het
Gnb3 A C 6: 124,837,462 M120R probably benign Het
Il16 A C 7: 83,652,691 D74E probably benign Het
Kpna1 T C 16: 36,031,191 F382L probably benign Het
Krt33a G T 11: 100,011,979 Q340K probably benign Het
Lrrc17 T A 5: 21,560,879 S120T possibly damaging Het
Mapk3 C A 7: 126,763,038 Y56* probably null Het
Mfhas1 C T 8: 35,588,815 A148V probably benign Het
Npr2 A G 4: 43,647,005 I713V probably damaging Het
Obp1a T A X: 78,088,374 Y108F probably damaging Het
Olfr18 T A 9: 20,314,639 S86C probably benign Het
Olfr429 T C 1: 174,089,243 F68L probably benign Het
Olfr583 A T 7: 103,052,152 M285L probably benign Het
Pias1 A T 9: 62,893,139 N430K probably benign Het
Ralgapa2 G T 2: 146,412,132 A836D probably damaging Het
Rftn2 T C 1: 55,206,338 E238G probably benign Het
Samt4 T G X: 154,484,122 S86A probably damaging Het
Setd2 T C 9: 110,550,774 M1219T probably benign Het
Sh3pxd2b T A 11: 32,387,992 D99E probably damaging Het
Sh3rf1 A T 8: 61,372,689 T573S probably benign Het
Sugct A G 13: 17,662,801 W82R probably damaging Het
Syt4 T G 18: 31,443,843 K153Q probably benign Het
Tbrg1 T C 9: 37,652,612 probably null Het
Tex36 C T 7: 133,587,408 R145K probably benign Het
Tfap2b A T 1: 19,219,203 D166V probably damaging Het
Trhde T C 10: 114,486,925 Y694C probably damaging Het
Trpc1 G A 9: 95,736,861 L146F probably damaging Het
Ttc29 G A 8: 78,276,940 E262K possibly damaging Het
Ttn A T 2: 76,716,949 I32251N probably damaging Het
Ttn G T 2: 76,782,347 D17129E probably benign Het
Ucma T A 2: 4,976,825 I47N probably damaging Het
Vmn1r13 A T 6: 57,210,489 K211M possibly damaging Het
Vmn2r95 A C 17: 18,439,956 H210P probably damaging Het
Xpc T C 6: 91,499,785 E444G probably benign Het
Yy1 T C 12: 108,794,097 probably benign Het
Zfp217 A G 2: 170,112,502 probably benign Het
Zfp318 T A 17: 46,409,117 Y1080* probably null Het
Other mutations in Olfr203
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02003:Olfr203 APN 16 59303633 missense probably damaging 0.99
IGL02294:Olfr203 APN 16 59303612 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
Posted On2015-04-16