Incidental Mutation 'R0825:Or5ac17'
ID 78199
Institutional Source Beutler Lab
Gene Symbol Or5ac17
Ensembl Gene ENSMUSG00000074996
Gene Name olfactory receptor family 5 subfamily AC member 17
Synonyms MOR182-14, GA_x54KRFPKG5P-55430495-55429569, Olfr199
MMRRC Submission 039005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R0825 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 59036048-59036974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59036813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 54 (H54Q)
Ref Sequence ENSEMBL: ENSMUSP00000150643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099657] [ENSMUST00000214186]
AlphaFold F6ZUS0
Predicted Effect possibly damaging
Transcript: ENSMUST00000099657
AA Change: H54Q

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097249
Gene: ENSMUSG00000074996
AA Change: H54Q

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 possibly damaging
Transcript: ENSMUST00000214186
AA Change: H54Q

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 98% (46/47)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,619,551 (GRCm39) I963N probably damaging Het
Aox4 A G 1: 58,288,068 (GRCm39) D727G possibly damaging Het
Arhgef26 T A 3: 62,334,014 (GRCm39) I590N probably damaging Het
Arid1b T G 17: 5,392,453 (GRCm39) C1994W probably damaging Het
Chd9 T C 8: 91,777,825 (GRCm39) I2628T probably benign Het
Clspn G A 4: 126,466,923 (GRCm39) probably benign Het
Cyp2a4 A T 7: 26,012,341 (GRCm39) T375S probably benign Het
Dmtf1 A T 5: 9,180,388 (GRCm39) M226K probably damaging Het
Erap1 T C 13: 74,822,733 (GRCm39) probably benign Het
Frmpd1 A G 4: 45,285,394 (GRCm39) D1405G possibly damaging Het
Gfm2 A T 13: 97,279,612 (GRCm39) probably benign Het
Ghsr T C 3: 27,428,776 (GRCm39) V267A probably damaging Het
Golga2 A C 2: 32,194,803 (GRCm39) Q650P probably damaging Het
Hmgcl A G 4: 135,687,381 (GRCm39) T219A probably benign Het
Ift27 C A 15: 78,049,336 (GRCm39) probably benign Het
Igfn1 C T 1: 135,890,864 (GRCm39) E2379K probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kpnb1 A T 11: 97,062,501 (GRCm39) S421R probably damaging Het
Minar1 G A 9: 89,485,332 (GRCm39) Q22* probably null Het
Mtx3 C A 13: 92,986,849 (GRCm39) T264K probably damaging Het
Nrg3 G A 14: 39,194,348 (GRCm39) P137L possibly damaging Het
Nt5c2 A G 19: 46,887,344 (GRCm39) probably benign Het
Or2y1e T A 11: 49,218,509 (GRCm39) H90Q probably benign Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pdcd5 G A 7: 35,346,338 (GRCm39) R91W possibly damaging Het
Pxdn G A 12: 30,034,995 (GRCm39) probably benign Het
Rgl2 T A 17: 34,154,133 (GRCm39) probably null Het
Rnf217 T C 10: 31,393,453 (GRCm39) D376G probably damaging Het
Septin9 C T 11: 117,250,286 (GRCm39) L519F probably damaging Het
Slc15a5 C T 6: 137,995,087 (GRCm39) C386Y possibly damaging Het
Srrm4 T A 5: 116,591,772 (GRCm39) I256F unknown Het
Stab1 G T 14: 30,874,557 (GRCm39) D950E probably benign Het
Stim2 A G 5: 54,275,825 (GRCm39) T667A probably benign Het
Strbp A T 2: 37,525,539 (GRCm39) N144K probably benign Het
Sync A G 4: 129,187,190 (GRCm39) Y74C probably benign Het
Terb1 A T 8: 105,195,380 (GRCm39) M587K possibly damaging Het
Tgfbi T C 13: 56,786,523 (GRCm39) probably benign Het
Tmf1 A T 6: 97,152,956 (GRCm39) N372K probably benign Het
Ubr4 G T 4: 139,206,887 (GRCm39) probably null Het
Uggt1 A T 1: 36,197,224 (GRCm39) N1226K probably benign Het
Ugt2b34 T C 5: 87,054,560 (GRCm39) I74V possibly damaging Het
Wdfy3 A G 5: 102,017,917 (GRCm39) L2541P probably damaging Het
Zfhx3 T G 8: 109,675,840 (GRCm39) F2297V probably damaging 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
IGL03153:Or5ac17 APN 16 59,036,566 (GRCm39) missense probably benign 0.35
R0702:Or5ac17 UTSW 16 59,036,062 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- GCAGAGCACCAAGTAAGTATGCCAC -3'
(R):5'- ATGGCAGAAGGAAACCGCACTC -3'

Sequencing Primer
(F):5'- GTATGCCACGGCTATAAACTG -3'
(R):5'- ACCGCACTCTGATCACTG -3'
Posted On 2013-10-16