Incidental Mutation 'R4036:Or5ac22'
ID 313729
Institutional Source Beutler Lab
Gene Symbol Or5ac22
Ensembl Gene ENSMUSG00000095928
Gene Name olfactory receptor family 5 subfamily AC member 22
Synonyms Olfr204, MOR182-3, GA_x54KRFPKG5P-55529713-55528796
MMRRC Submission 040963-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R4036 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 59134851-59135768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59135113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 219 (H219L)
Ref Sequence ENSEMBL: ENSMUSP00000151176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072517] [ENSMUST00000207927] [ENSMUST00000216261]
AlphaFold E9Q8M0
Predicted Effect probably benign
Transcript: ENSMUST00000072517
AA Change: H219L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072332
Gene: ENSMUSG00000095928
AA Change: H219L

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: H219L
Predicted Effect probably benign
Transcript: ENSMUST00000216261
AA Change: H219L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 100% (33/33)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544M13Rik T C 13: 114,744,205 (GRCm39) noncoding transcript Het
Ahctf1 T C 1: 179,590,181 (GRCm39) Q1364R possibly damaging Het
Anxa2 A G 9: 69,395,352 (GRCm39) N265S probably damaging Het
Bcan A G 3: 87,903,423 (GRCm39) probably null Het
Cntln A G 4: 84,924,725 (GRCm39) Y610C probably damaging Het
Cyp39a1 C A 17: 43,987,831 (GRCm39) A99E probably damaging Het
Drc1 A G 5: 30,504,526 (GRCm39) I223V probably benign Het
Eef2kmt A T 16: 5,063,135 (GRCm39) V335D probably damaging Het
Fanci T C 7: 79,094,570 (GRCm39) L1167P probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gns C A 10: 121,207,095 (GRCm39) T72N probably damaging Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Klk1b8 A G 7: 43,447,511 (GRCm39) I9V probably null Het
Map4 A G 9: 109,861,283 (GRCm39) T216A possibly damaging Het
Metrn T C 17: 26,013,984 (GRCm39) T281A probably benign Het
Mid1-ps1 G A Y: 90,773,563 (GRCm39) noncoding transcript Het
Ndc1 G A 4: 107,268,269 (GRCm39) D602N probably benign Het
Nsd1 A G 13: 55,361,524 (GRCm39) D164G possibly damaging Het
Pcdha8 T C 18: 37,125,914 (GRCm39) M132T probably benign Het
Pomt2 A G 12: 87,158,296 (GRCm39) probably null Het
Prrt3 AGGGGG AGGGG 6: 113,474,641 (GRCm39) probably null Het
Rfx6 T A 10: 51,602,842 (GRCm39) H786Q probably damaging Het
Scn4a A C 11: 106,212,883 (GRCm39) L1374R possibly damaging Het
Slc16a9 C T 10: 70,110,786 (GRCm39) T124M probably damaging Het
Slc46a2 A T 4: 59,913,818 (GRCm39) F368L probably damaging Het
St18 T A 1: 6,898,010 (GRCm39) I604K probably damaging Het
Ttn A G 2: 76,548,497 (GRCm39) V31935A possibly damaging Het
Urb1 T C 16: 90,584,974 (GRCm39) H549R probably benign Het
Vmn1r219 A G 13: 23,347,272 (GRCm39) M154V probably benign Het
Zfp575 G A 7: 24,285,440 (GRCm39) S67L possibly damaging Het
Other mutations in Or5ac22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01771:Or5ac22 APN 16 59,134,891 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-30