Incidental Mutation 'IGL01985:Or5ac19'
ID 181852
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01985
Quality Score
Status
Chromosome 16
Chromosomal Location 59089102-59090028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59089442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 196 (V196E)
Ref Sequence ENSEMBL: ENSMUSP00000150660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099656] [ENSMUST00000216834]
AlphaFold Q7TS38
Predicted Effect probably benign
Transcript: ENSMUST00000099656
AA Change: V196E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097248
Gene: ENSMUSG00000074995
AA Change: V196E

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.2e-46 PFAM
Pfam:7tm_1 41 290 8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216834
AA Change: V196E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 G A 4: 144,442,024 (GRCm39) Q76* probably null Het
Cass4 A C 2: 172,269,126 (GRCm39) S403R probably damaging Het
Ccdc175 A T 12: 72,175,052 (GRCm39) Y540* probably null Het
Cep164 C T 9: 45,690,904 (GRCm39) E1266K probably damaging Het
Clec12b T A 6: 129,359,334 (GRCm39) probably benign Het
Col6a5 T C 9: 105,814,482 (GRCm39) K510R unknown Het
Crisp4 G A 1: 18,204,289 (GRCm39) P101S probably damaging Het
Dapk1 T C 13: 60,884,074 (GRCm39) L614P probably damaging Het
Dip2c T C 13: 9,603,303 (GRCm39) probably benign Het
Dock7 A G 4: 98,911,614 (GRCm39) F589L probably benign Het
Dvl2 T A 11: 69,899,119 (GRCm39) V459E probably damaging Het
E2f6 T C 12: 16,869,064 (GRCm39) probably null Het
Exph5 T C 9: 53,287,869 (GRCm39) L1650P probably damaging Het
Farp2 A G 1: 93,535,324 (GRCm39) Y691C probably damaging Het
Fshb T C 2: 106,889,173 (GRCm39) T44A probably benign Het
Gm28044 T A 13: 67,495,958 (GRCm39) K28* probably null Het
Il12b G A 11: 44,298,881 (GRCm39) W112* probably null Het
Ino80 T C 2: 119,263,802 (GRCm39) T621A probably damaging Het
Irx5 T A 8: 93,086,155 (GRCm39) probably benign Het
Jmy T C 13: 93,596,144 (GRCm39) H495R possibly damaging Het
Kif21a A T 15: 90,875,970 (GRCm39) V321D probably damaging Het
Lrrc10 T A 10: 116,881,921 (GRCm39) D198E probably damaging Het
Lrsam1 T C 2: 32,818,103 (GRCm39) E651G probably benign Het
Mtarc1 A G 1: 184,519,931 (GRCm39) V230A probably damaging Het
Mylk4 T A 13: 32,901,564 (GRCm39) I475L possibly damaging Het
Myom3 G A 4: 135,493,013 (GRCm39) probably null Het
Pah G A 10: 87,414,844 (GRCm39) V399M probably damaging Het
Pik3r4 G A 9: 105,540,244 (GRCm39) E711K probably benign Het
Rbbp6 A G 7: 122,570,296 (GRCm39) K38E probably damaging Het
Ror1 G A 4: 100,283,161 (GRCm39) V409M possibly damaging Het
Slc6a11 T A 6: 114,111,853 (GRCm39) V140D probably benign Het
Srebf2 G T 15: 82,076,560 (GRCm39) A737S probably benign Het
Tcerg1 A G 18: 42,663,721 (GRCm39) T303A unknown Het
Tmem74 A T 15: 43,730,476 (GRCm39) I189N probably damaging Het
Tnr A G 1: 159,746,607 (GRCm39) D1242G possibly damaging Het
U2surp A T 9: 95,372,279 (GRCm39) F293L probably damaging Het
Uchl5 G A 1: 143,661,864 (GRCm39) probably benign Het
Usp34 T A 11: 23,402,565 (GRCm39) C2472S probably damaging Het
Usp42 G A 5: 143,700,940 (GRCm39) R1028W probably damaging Het
Vmn2r10 A G 5: 109,154,125 (GRCm39) S60P probably benign Het
Vmn2r31 G T 7: 7,397,510 (GRCm39) D249E probably benign Het
Vnn1 C T 10: 23,776,642 (GRCm39) T331I probably benign Het
Zmym6 G T 4: 126,994,541 (GRCm39) V232F probably damaging Het
Other mutations in Or5ac19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Or5ac19 APN 16 59,089,213 (GRCm39) missense probably benign 0.07
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
PIT4449001:Or5ac19 UTSW 16 59,089,493 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-05-07