Incidental Mutation 'IGL01771:Or5ac22'
ID 153848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5ac22
Ensembl Gene ENSMUSG00000095928
Gene Name olfactory receptor family 5 subfamily AC member 22
Synonyms Olfr204, MOR182-3, GA_x54KRFPKG5P-55529713-55528796
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL01771
Quality Score
Chromosome 16
Chromosomal Location 59134851-59135768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59134891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 293 (N293S)
Ref Sequence ENSEMBL: ENSMUSP00000151176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072517] [ENSMUST00000207927] [ENSMUST00000216261]
AlphaFold E9Q8M0
Predicted Effect probably damaging
Transcript: ENSMUST00000072517
AA Change: N293S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072332
Gene: ENSMUSG00000095928
AA Change: N293S

Pfam:7tm_4 30 305 1.5e-49 PFAM
Pfam:7TM_GPCR_Srsx 34 299 2.3e-9 PFAM
Pfam:7tm_1 40 289 3.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207927
AA Change: N293S
Predicted Effect probably damaging
Transcript: ENSMUST00000216261
AA Change: N293S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn10 T A 1: 92,868,087 (GRCm39) W185R probably damaging Het
Frmd8 A G 19: 5,919,603 (GRCm39) L148P probably damaging Het
Gk5 T C 9: 96,059,488 (GRCm39) C447R probably damaging Het
Hip1r T A 5: 124,137,606 (GRCm39) V704D possibly damaging Het
Kcnj10 C A 1: 172,197,150 (GRCm39) H221Q probably benign Het
Klk1b8 A T 7: 43,604,290 (GRCm39) I253L probably damaging Het
Or10aa4-ps1 T C 1: 173,878,887 (GRCm39) probably benign Het
Or1ad8 A G 11: 50,898,593 (GRCm39) T265A probably benign Het
Or1e29 A T 11: 73,667,490 (GRCm39) I221N probably damaging Het
Or8k40 C T 2: 86,584,626 (GRCm39) C152Y probably benign Het
Pdp2 A T 8: 105,320,754 (GRCm39) Y201F probably benign Het
Ppfia1 A T 7: 144,036,094 (GRCm39) I1112K probably benign Het
Ppwd1 A G 13: 104,353,624 (GRCm39) I378T probably damaging Het
Rhbdd1 T A 1: 82,355,313 (GRCm39) D248E probably benign Het
Sec14l5 T C 16: 4,996,494 (GRCm39) probably null Het
Sel1l3 T G 5: 53,279,183 (GRCm39) D960A probably damaging Het
Slc35f3 T C 8: 127,115,951 (GRCm39) Y293H probably benign Het
Wwc1 A G 11: 35,744,185 (GRCm39) probably null Het
Zan T C 5: 137,391,330 (GRCm39) N4718S unknown Het
Zfyve16 T C 13: 92,658,680 (GRCm39) I410M probably benign Het
Other mutations in Or5ac22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Or5ac22 APN 16 59,135,473 (GRCm39) missense probably damaging 1.00
R0265:Or5ac22 UTSW 16 59,135,434 (GRCm39) missense probably damaging 1.00
R0532:Or5ac22 UTSW 16 59,134,964 (GRCm39) missense probably benign 0.00
R1719:Or5ac22 UTSW 16 59,135,069 (GRCm39) nonsense probably null
R1864:Or5ac22 UTSW 16 59,135,378 (GRCm39) missense probably damaging 1.00
R1889:Or5ac22 UTSW 16 59,135,326 (GRCm39) missense probably damaging 0.98
R1925:Or5ac22 UTSW 16 59,135,027 (GRCm39) missense probably damaging 1.00
R2973:Or5ac22 UTSW 16 59,135,767 (GRCm39) start codon destroyed probably null 1.00
R3078:Or5ac22 UTSW 16 59,135,089 (GRCm39) missense probably benign
R3819:Or5ac22 UTSW 16 59,135,434 (GRCm39) missense probably damaging 1.00
R4036:Or5ac22 UTSW 16 59,135,113 (GRCm39) missense probably benign
R4698:Or5ac22 UTSW 16 59,135,720 (GRCm39) missense probably damaging 1.00
R4930:Or5ac22 UTSW 16 59,135,236 (GRCm39) missense probably damaging 1.00
R5457:Or5ac22 UTSW 16 59,135,213 (GRCm39) missense probably benign 0.12
R6597:Or5ac22 UTSW 16 59,135,713 (GRCm39) missense probably benign 0.00
R7341:Or5ac22 UTSW 16 59,135,512 (GRCm39) missense possibly damaging 0.69
R7512:Or5ac22 UTSW 16 59,135,390 (GRCm39) missense probably damaging 0.99
R7702:Or5ac22 UTSW 16 59,134,997 (GRCm39) missense probably damaging 1.00
R8132:Or5ac22 UTSW 16 59,134,907 (GRCm39) missense possibly damaging 0.55
R9642:Or5ac22 UTSW 16 59,135,610 (GRCm39) missense possibly damaging 0.70
Posted On 2014-02-04