Incidental Mutation 'R8132:Or5ac22'
ID 632088
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 067895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R8132 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 59134851-59135768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59134907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 288 (I288V)
Ref Sequence ENSEMBL: ENSMUSP00000151176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072517] [ENSMUST00000216261]
AlphaFold E9Q8M0
Predicted Effect possibly damaging
Transcript: ENSMUST00000072517
AA Change: I288V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072332
Gene: ENSMUSG00000095928
AA Change: I288V

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000216261
AA Change: I288V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 94.2%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,691,757 (GRCm39) A403T Het
Abhd16b G A 2: 181,135,760 (GRCm39) A221T probably damaging Het
Arhgef1 C T 7: 24,607,087 (GRCm39) probably benign Het
Arhgef1 C T 7: 24,619,174 (GRCm39) Q472* probably null Het
Calr3 C T 8: 73,181,023 (GRCm39) G298S probably damaging Het
Chrng A G 1: 87,133,718 (GRCm39) T15A unknown Het
CK137956 T A 4: 127,845,075 (GRCm39) K223* probably null Het
Clca3b A T 3: 144,552,935 (GRCm39) S97T probably benign Het
Cops7b G T 1: 86,514,916 (GRCm39) G102V probably damaging Het
Dennd1a T A 2: 37,748,072 (GRCm39) S382C probably damaging Het
Fdps G A 3: 89,006,693 (GRCm39) Q66* probably null Het
Gemin4 T C 11: 76,103,739 (GRCm39) T341A probably benign Het
Grk3 A G 5: 113,109,355 (GRCm39) S201P unknown Het
Hgf C T 5: 16,807,329 (GRCm39) T407I probably damaging Het
Hip1r C T 5: 124,135,290 (GRCm39) R446C probably damaging Het
Hyal6 A T 6: 24,740,827 (GRCm39) I327L possibly damaging Het
Ifna15 T C 4: 88,475,920 (GRCm39) E188G possibly damaging Het
Igip A G 18: 36,434,266 (GRCm39) S11G probably benign Het
Igkv5-39 A G 6: 69,877,589 (GRCm39) Y56H probably damaging Het
Jph1 G A 1: 17,086,379 (GRCm39) T381I probably damaging Het
Lrrc55 T C 2: 85,022,259 (GRCm39) I311V probably benign Het
Mrps35 T A 6: 146,949,661 (GRCm39) D58E probably benign Het
Ms4a4d C A 19: 11,535,310 (GRCm39) P203T probably benign Het
Naip1 T G 13: 100,573,883 (GRCm39) E225D possibly damaging Het
Ncapg2 T A 12: 116,407,967 (GRCm39) I989N possibly damaging Het
Nek3 A T 8: 22,647,036 (GRCm39) Y166* probably null Het
Nphs1 A G 7: 30,181,478 (GRCm39) E1169G probably benign Het
Nudt15 G A 14: 73,759,099 (GRCm39) P123L probably benign Het
Or10c1 T A 17: 37,522,207 (GRCm39) E179V probably damaging Het
Or10q1b G A 19: 13,682,584 (GRCm39) C131Y probably damaging Het
Or6k14 T A 1: 173,927,737 (GRCm39) S238T probably damaging Het
Or8a1b C T 9: 37,623,369 (GRCm39) V69M probably benign Het
Pcdha5 T C 18: 37,093,694 (GRCm39) S68P possibly damaging Het
Plec G T 15: 76,074,773 (GRCm39) A330E unknown Het
Rpa3 A C 6: 8,256,790 (GRCm39) I63S probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Snap25 A T 2: 136,611,748 (GRCm39) K83N probably benign Het
Sos1 T G 17: 80,716,031 (GRCm39) Q977P probably damaging Het
Spag16 A G 1: 70,420,461 (GRCm39) Y483C probably damaging Het
Speg A G 1: 75,399,639 (GRCm39) E2362G probably damaging Het
Swap70 A G 7: 109,855,084 (GRCm39) D128G probably damaging Het
Syngap1 G A 17: 27,177,154 (GRCm39) M545I probably damaging Het
Tdpoz6 G A 3: 93,599,452 (GRCm39) Q306* probably null Het
Tmem147 T C 7: 30,427,872 (GRCm39) E110G probably damaging Het
Tmem156 T A 5: 65,233,098 (GRCm39) I155F probably benign Het
Trim25 C A 11: 88,907,432 (GRCm39) A597E probably damaging Het
Ttc7b T C 12: 100,413,131 (GRCm39) Y229C probably damaging Het
Utrn T A 10: 12,558,154 (GRCm39) Q1435L probably damaging Het
Zbtb41 T C 1: 139,350,955 (GRCm39) S23P probably benign Het
Zeb2 T A 2: 44,879,142 (GRCm39) I1075F probably 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
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
R9642:Or5ac22 UTSW 16 59,135,610 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- GGTGCATGTAATCTAACAATATGCAAG -3'
(R):5'- CTATCGTAGTCTCTTATGCGCATG -3'

Sequencing Primer
(F):5'- GGATGCACATCAGGAGAT -3'
(R):5'- CTGTCCTGAACATGAAGTCTGAG -3'
Posted On 2020-06-30