Incidental Mutation 'PIT4449001:Or5ac19'
ID 555750
Institutional Source Beutler Lab
Gene Symbol Or5ac19
Ensembl Gene ENSMUSG00000074995
Gene Name olfactory receptor family 5 subfamily AC member 19
Synonyms Olfr201, MOR182-2, GA_x54KRFPKG5P-55483936-55483010
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # PIT4449001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 59089102-59090028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59089493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 179 (C179F)
Ref Sequence ENSEMBL: ENSMUSP00000150660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099656] [ENSMUST00000216834]
AlphaFold Q7TS38
Predicted Effect probably damaging
Transcript: ENSMUST00000099656
AA Change: C179F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097248
Gene: ENSMUSG00000074995
AA Change: C179F

Pfam:7tm_4 31 308 1.2e-46 PFAM
Pfam:7tm_1 41 290 8e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216834
AA Change: C179F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asf1b A G 8: 84,694,611 (GRCm39) N125S probably benign Het
BC048671 T A 6: 90,282,145 (GRCm39) L101I probably damaging Het
Camta1 A G 4: 151,216,043 (GRCm39) L959P probably benign Het
Cfap91 T C 16: 38,148,720 (GRCm39) E236G probably damaging Het
Cfh C A 1: 140,040,303 (GRCm39) V598F probably damaging Het
Cyp2j7 G T 4: 96,103,575 (GRCm39) T320K probably damaging Het
Ddr1 A G 17: 35,998,141 (GRCm39) I468T possibly damaging Het
Dhx15 A G 5: 52,318,300 (GRCm39) V510A probably damaging Het
Dpp4 T A 2: 62,186,988 (GRCm39) K507N probably benign Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gabbr1 G A 17: 37,367,242 (GRCm39) V373I probably damaging Het
Gak A T 5: 108,728,791 (GRCm39) S1049T probably benign Het
Gipr C T 7: 18,894,543 (GRCm39) R253H probably benign Het
Gm3685 T A 14: 7,043,960 (GRCm38) M73L probably benign Het
Gm5168 C T X: 25,994,840 (GRCm39) R129Q probably null Het
Kcnh1 T A 1: 192,100,992 (GRCm39) V555D probably damaging Het
Kif26b T C 1: 178,745,651 (GRCm39) S1916P probably damaging Het
Lingo4 T C 3: 94,309,239 (GRCm39) V59A probably benign Het
Mroh8 T A 2: 157,067,454 (GRCm39) Q635L probably damaging Het
Msh6 T A 17: 88,293,616 (GRCm39) D790E probably damaging Het
Nrxn1 A T 17: 90,905,007 (GRCm39) W809R probably damaging Het
Polr3d T C 14: 70,676,903 (GRCm39) H397R probably benign Het
Pwp2 G A 10: 78,014,304 (GRCm39) T432I probably benign Het
Rad21 G C 15: 51,836,639 (GRCm39) F177L probably benign Het
Rnf182 G A 13: 43,822,153 (GRCm39) V235I probably benign Het
Scn11a C T 9: 119,599,014 (GRCm39) C1172Y probably damaging Het
Sh2b3 A G 5: 121,966,742 (GRCm39) L124P possibly damaging Het
Six2 T C 17: 85,992,906 (GRCm39) N199S probably benign Het
Slc5a3 A G 16: 91,874,702 (GRCm39) D253G probably benign Het
Synm A G 7: 67,385,025 (GRCm39) M879T probably benign Het
Tasp1 A G 2: 139,752,455 (GRCm39) I328T possibly damaging Het
Tbrg4 T C 11: 6,569,689 (GRCm39) Q309R probably damaging Het
Tmtc2 A G 10: 105,139,465 (GRCm39) L687P probably damaging Het
Trgc3 A T 13: 19,447,532 (GRCm39) R162* probably null Het
Tufm T C 7: 126,086,621 (GRCm39) M1T probably null Het
Vmn2r116 A C 17: 23,607,921 (GRCm39) L496F probably benign Het
Vmn2r75 C T 7: 85,814,791 (GRCm39) C234Y probably damaging Het
Wars2 G T 3: 99,112,595 (GRCm39) V162L possibly damaging Het
Zc3h11a A T 1: 133,552,349 (GRCm39) V586D probably benign Het
Zdhhc5 A T 2: 84,520,571 (GRCm39) N535K probably damaging Het
Zfp52 T C 17: 21,777,478 (GRCm39) Y38H probably damaging Het
Zfp729b T C 13: 67,739,542 (GRCm39) M908V probably benign Het
Zfp772 T C 7: 7,207,350 (GRCm39) I114V probably benign Het
Other mutations in Or5ac19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Or5ac19 APN 16 59,089,213 (GRCm39) missense probably benign 0.07
IGL01985:Or5ac19 APN 16 59,089,442 (GRCm39) missense probably benign
IGL02618:Or5ac19 APN 16 59,089,290 (GRCm39) missense probably damaging 1.00
IGL02830:Or5ac19 APN 16 59,089,416 (GRCm39) missense possibly damaging 0.94
R0047:Or5ac19 UTSW 16 59,089,574 (GRCm39) missense probably damaging 1.00
R0047:Or5ac19 UTSW 16 59,089,574 (GRCm39) missense probably damaging 1.00
R1035:Or5ac19 UTSW 16 59,089,307 (GRCm39) missense probably damaging 1.00
R1037:Or5ac19 UTSW 16 59,089,307 (GRCm39) missense probably damaging 1.00
R1163:Or5ac19 UTSW 16 59,089,518 (GRCm39) missense probably benign 0.23
R1225:Or5ac19 UTSW 16 59,089,587 (GRCm39) missense probably benign
R1519:Or5ac19 UTSW 16 59,089,307 (GRCm39) missense probably damaging 1.00
R1583:Or5ac19 UTSW 16 59,089,394 (GRCm39) missense probably benign 0.00
R2075:Or5ac19 UTSW 16 59,089,274 (GRCm39) missense possibly damaging 0.60
R4591:Or5ac19 UTSW 16 59,089,776 (GRCm39) missense possibly damaging 0.94
R5547:Or5ac19 UTSW 16 59,089,479 (GRCm39) missense probably benign 0.35
R6132:Or5ac19 UTSW 16 59,089,367 (GRCm39) missense probably damaging 0.97
R6737:Or5ac19 UTSW 16 59,089,175 (GRCm39) missense possibly damaging 0.60
R6872:Or5ac19 UTSW 16 59,089,961 (GRCm39) missense probably benign 0.20
R8001:Or5ac19 UTSW 16 59,089,472 (GRCm39) missense probably benign 0.01
R8525:Or5ac19 UTSW 16 59,089,571 (GRCm39) missense probably benign 0.07
R9003:Or5ac19 UTSW 16 59,089,263 (GRCm39) missense probably benign 0.05
R9260:Or5ac19 UTSW 16 59,089,677 (GRCm39) missense probably damaging 0.98
R9584:Or5ac19 UTSW 16 59,089,580 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-07