Incidental Mutation 'IGL03153:Or5ac17'
ID 411140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5ac17
Ensembl Gene ENSMUSG00000074996
Gene Name olfactory receptor family 5 subfamily AC member 17
Synonyms MOR182-14, GA_x54KRFPKG5P-55430495-55429569, Olfr199
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL03153
Quality Score
Status
Chromosome 16
Chromosomal Location 59036048-59036974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59036566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 137 (S137P)
Ref Sequence ENSEMBL: ENSMUSP00000150643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099657] [ENSMUST00000214186]
AlphaFold F6ZUS0
Predicted Effect probably benign
Transcript: ENSMUST00000099657
AA Change: S137P

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097249
Gene: ENSMUSG00000074996
AA Change: S137P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.7e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.6e-6 PFAM
Pfam:7tm_1 41 290 4.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214186
AA Change: S137P

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,563 (GRCm39) E419G possibly damaging Het
Abcg3 A G 5: 105,122,631 (GRCm39) probably benign Het
Adam17 T C 12: 21,395,698 (GRCm39) D256G probably damaging Het
Adgrb3 G A 1: 25,570,978 (GRCm39) R500* probably null Het
Aldh3a2 A G 11: 61,149,665 (GRCm39) Y234H probably damaging Het
Alpk3 A G 7: 80,743,143 (GRCm39) T987A probably benign Het
Amtn A G 5: 88,532,828 (GRCm39) K148E possibly damaging Het
Asap1 G A 15: 64,032,123 (GRCm39) T237M probably damaging Het
Ccdc124 A T 8: 71,321,573 (GRCm39) probably null Het
Cdon T C 9: 35,389,255 (GRCm39) Y787H probably damaging Het
Cimip4 T C 15: 78,269,516 (GRCm39) D188G probably damaging Het
Coro7 A G 16: 4,453,246 (GRCm39) probably null Het
Dram2 T A 3: 106,462,490 (GRCm39) probably benign Het
Drd5 T C 5: 38,477,124 (GRCm39) V39A probably benign Het
Ern1 A G 11: 106,300,924 (GRCm39) L490P possibly damaging Het
Fat1 A G 8: 45,483,160 (GRCm39) T3083A possibly damaging Het
Irgm1 A G 11: 48,757,094 (GRCm39) I239T probably damaging Het
Klhl10 A T 11: 100,347,758 (GRCm39) T605S probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lgi4 G T 7: 30,759,983 (GRCm39) V60F probably damaging Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Lmf1 A G 17: 25,804,624 (GRCm39) S97G possibly damaging Het
Oasl2 A G 5: 115,039,393 (GRCm39) T194A probably benign Het
Pnpo A T 11: 96,834,661 (GRCm39) F12I probably damaging Het
Prdm4 T C 10: 85,743,860 (GRCm39) T132A probably benign Het
Ptbp2 T C 3: 119,545,593 (GRCm39) T118A probably benign Het
Ptf1a T A 2: 19,451,456 (GRCm39) probably benign Het
Rev3l T A 10: 39,682,874 (GRCm39) F331I probably damaging Het
Rfx6 C A 10: 51,599,217 (GRCm39) S524* probably null Het
Scube3 A G 17: 28,386,032 (GRCm39) S758G possibly damaging Het
Slc44a2 T C 9: 21,254,496 (GRCm39) I257T probably benign Het
Spon1 A T 7: 113,629,579 (GRCm39) I408F probably damaging Het
Srpk1 C A 17: 28,811,240 (GRCm39) D541Y possibly damaging Het
Tenm4 A T 7: 96,522,969 (GRCm39) I1467F probably damaging Het
Uggt1 A C 1: 36,241,899 (GRCm39) V345G possibly damaging Het
Vmn1r23 A T 6: 57,902,917 (GRCm39) I287K probably damaging Het
Whamm A G 7: 81,239,280 (GRCm39) probably benign Het
Zeb1 A G 18: 5,770,511 (GRCm39) D888G probably damaging Het
Zfp263 A G 16: 3,564,744 (GRCm39) N253S possibly damaging Het
Zfp446 C A 7: 12,711,834 (GRCm39) A19E probably benign Het
Other mutations in Or5ac17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Or5ac17 APN 16 59,036,859 (GRCm39) missense probably damaging 0.97
IGL00972:Or5ac17 APN 16 59,036,829 (GRCm39) missense probably damaging 1.00
IGL01734:Or5ac17 APN 16 59,036,792 (GRCm39) missense probably benign 0.12
IGL01876:Or5ac17 APN 16 59,036,382 (GRCm39) missense possibly damaging 0.89
IGL02017:Or5ac17 APN 16 59,036,310 (GRCm39) missense probably damaging 1.00
IGL02871:Or5ac17 APN 16 59,036,737 (GRCm39) nonsense probably null
R0702:Or5ac17 UTSW 16 59,036,062 (GRCm39) missense probably benign
R0825:Or5ac17 UTSW 16 59,036,813 (GRCm39) missense possibly damaging 0.70
R1522:Or5ac17 UTSW 16 59,036,347 (GRCm39) missense probably damaging 1.00
R1769:Or5ac17 UTSW 16 59,036,344 (GRCm39) missense probably benign 0.01
R2144:Or5ac17 UTSW 16 59,036,389 (GRCm39) missense probably benign 0.00
R3956:Or5ac17 UTSW 16 59,036,428 (GRCm39) nonsense probably null
R4783:Or5ac17 UTSW 16 59,036,222 (GRCm39) missense probably damaging 0.98
R5534:Or5ac17 UTSW 16 59,036,403 (GRCm39) missense probably benign 0.39
R6031:Or5ac17 UTSW 16 59,036,296 (GRCm39) missense probably benign 0.00
R6031:Or5ac17 UTSW 16 59,036,296 (GRCm39) missense probably benign 0.00
R6141:Or5ac17 UTSW 16 59,036,916 (GRCm39) missense probably benign
R6445:Or5ac17 UTSW 16 59,036,472 (GRCm39) missense probably damaging 1.00
R6459:Or5ac17 UTSW 16 59,036,383 (GRCm39) missense probably benign 0.44
R6568:Or5ac17 UTSW 16 59,036,641 (GRCm39) missense probably benign 0.36
R7378:Or5ac17 UTSW 16 59,036,283 (GRCm39) missense probably benign 0.00
R7438:Or5ac17 UTSW 16 59,036,761 (GRCm39) missense probably benign 0.10
R8157:Or5ac17 UTSW 16 59,036,352 (GRCm39) missense probably benign
R8258:Or5ac17 UTSW 16 59,036,458 (GRCm39) missense probably benign 0.00
R8259:Or5ac17 UTSW 16 59,036,458 (GRCm39) missense probably benign 0.00
R9775:Or5ac17 UTSW 16 59,036,069 (GRCm39) missense possibly damaging 0.90
R9795:Or5ac17 UTSW 16 59,036,938 (GRCm39) missense possibly damaging 0.86
Posted On 2016-08-02