Incidental Mutation 'IGL00226:Or5ac17'
ID 2097
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 # IGL00226
Quality Score
Status
Chromosome 16
Chromosomal Location 59036048-59036974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59036859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 39 (M39K)
Ref Sequence ENSEMBL: ENSMUSP00000150643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099657] [ENSMUST00000214186]
AlphaFold F6ZUS0
Predicted Effect probably damaging
Transcript: ENSMUST00000099657
AA Change: M39K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097249
Gene: ENSMUSG00000074996
AA Change: M39K

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 damaging
Transcript: ENSMUST00000214186
AA Change: M39K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik C A 3: 36,533,690 (GRCm39) probably benign Het
Ankib1 G A 5: 3,777,573 (GRCm39) S439L probably benign Het
Cdcp3 T A 7: 130,839,823 (GRCm39) probably null Het
Cpd G T 11: 76,688,615 (GRCm39) H886N probably benign Het
Dhrs7 A G 12: 72,706,124 (GRCm39) C94R probably damaging Het
Dmxl2 T A 9: 54,323,277 (GRCm39) H1369L probably damaging Het
Dnah5 A G 15: 28,272,488 (GRCm39) N1068S probably benign Het
Dop1a T A 9: 86,433,732 (GRCm39) D2329E possibly damaging Het
Eif1ad A G 19: 5,418,212 (GRCm39) probably benign Het
Fam149a T C 8: 45,792,380 (GRCm39) R693G probably damaging Het
Fbxw18 T A 9: 109,522,411 (GRCm39) T153S probably benign Het
Glg1 A T 8: 111,886,481 (GRCm39) C1104S probably damaging Het
Jak3 T C 8: 72,134,341 (GRCm39) probably benign Het
Kctd6 C T 14: 8,222,856 (GRCm38) R233C possibly damaging Het
Kpna3 A G 14: 61,611,737 (GRCm39) V300A possibly damaging Het
Msh5 A T 17: 35,248,857 (GRCm39) Y725* probably null Het
Myh2 T C 11: 67,076,059 (GRCm39) S749P possibly damaging Het
Or2ag15 T A 7: 106,340,908 (GRCm39) T78S probably benign Het
Or4c110 A G 2: 88,831,683 (GRCm39) probably benign Het
Or8g19 T A 9: 39,056,053 (GRCm39) I219N possibly damaging Het
Pdcd1 A G 1: 93,967,860 (GRCm39) probably benign Het
Pde5a T A 3: 122,588,006 (GRCm39) F391I probably damaging Het
Ptpn12 A C 5: 21,203,666 (GRCm39) S371A probably damaging Het
Sec16b A G 1: 157,365,900 (GRCm39) Y254C probably damaging Het
Slc2a10 G A 2: 165,356,700 (GRCm39) C120Y probably damaging Het
Spink5 G A 18: 44,120,938 (GRCm39) probably benign Het
Svil A G 18: 5,099,045 (GRCm39) Q1250R probably benign Het
Tph1 G T 7: 46,306,294 (GRCm39) N222K probably benign Het
Vmn2r83 A T 10: 79,314,805 (GRCm39) D351V probably damaging Het
Zfp54 A G 17: 21,653,821 (GRCm39) D105G possibly damaging Het
Zfp623 T C 15: 75,820,052 (GRCm39) I336T probably damaging Het
Other mutations in Or5ac17
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03153:Or5ac17 APN 16 59,036,566 (GRCm39) missense probably benign 0.35
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 2011-12-09