Incidental Mutation 'R6597:Or5ac22'
ID 524983
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 044721-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6597 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 59134851-59135768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59135713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 19 (R19H)
Ref Sequence ENSEMBL: ENSMUSP00000151176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072517] [ENSMUST00000216261]
AlphaFold E9Q8M0
Predicted Effect probably benign
Transcript: ENSMUST00000072517
AA Change: R19H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000072332
Gene: ENSMUSG00000095928
AA Change: R19H

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 probably benign
Transcript: ENSMUST00000216261
AA Change: R19H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 100% (50/50)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,625,080 (GRCm39) Y486C probably damaging Het
Asb17 A T 3: 153,550,321 (GRCm39) T118S probably damaging Het
Atl2 T A 17: 80,160,195 (GRCm39) D293V possibly damaging Het
Bbs1 T A 19: 4,949,334 (GRCm39) M242L probably benign Het
Btg1 T A 10: 96,454,182 (GRCm39) S65T probably damaging Het
Cfap54 T C 10: 92,834,902 (GRCm39) D1101G possibly damaging Het
Cmpk2 G T 12: 26,524,144 (GRCm39) V314L possibly damaging Het
Fbxl8 A C 8: 105,995,523 (GRCm39) D345A probably benign Het
Gys2 T A 6: 142,402,035 (GRCm39) H268L probably benign Het
Hecw1 T A 13: 14,491,403 (GRCm39) R117* probably null Het
Hoxd10 G A 2: 74,522,984 (GRCm39) A221T probably benign Het
Hspa13 A T 16: 75,562,085 (GRCm39) L38Q probably damaging Het
Inava G T 1: 136,153,927 (GRCm39) A87E probably damaging Het
Ipo11 A G 13: 107,002,371 (GRCm39) probably null Het
Itgb8 A G 12: 119,137,133 (GRCm39) V390A possibly damaging Het
Kalrn T A 16: 34,003,117 (GRCm39) I1370F probably damaging Het
Macf1 T C 4: 123,276,485 (GRCm39) N6086S probably damaging Het
Ms4a13 T C 19: 11,170,303 (GRCm39) T14A probably benign Het
Or11g26 T A 14: 50,753,008 (GRCm39) C116S probably benign Het
Or55b10 A T 7: 102,143,628 (GRCm39) I118N probably damaging Het
Or5d37 A G 2: 87,923,413 (GRCm39) F289S probably damaging Het
Or8b47 A T 9: 38,435,300 (GRCm39) I91F probably benign Het
Or9q1 T A 19: 13,805,821 (GRCm39) probably benign Het
Patl2 T A 2: 122,016,645 (GRCm39) probably benign Het
Pcdhga7 T C 18: 37,850,059 (GRCm39) S689P probably benign Het
Pitpnc1 G T 11: 107,117,058 (GRCm39) Y227* probably null Het
Pla2g2e T C 4: 138,607,984 (GRCm39) V22A unknown Het
Ppil1 C A 17: 29,480,852 (GRCm39) V24F probably benign Het
Prl3b1 G A 13: 27,431,957 (GRCm39) probably null Het
Rabgef1 G A 5: 130,219,885 (GRCm39) probably null Het
Rhot2 A T 17: 26,059,886 (GRCm39) W341R probably damaging Het
Rps6kc1 A T 1: 190,482,381 (GRCm39) W286R probably benign Het
Rrs1 A G 1: 9,616,601 (GRCm39) T285A probably damaging Het
Shc3 T A 13: 51,597,009 (GRCm39) D338V possibly damaging Het
Siglech A T 7: 55,418,211 (GRCm39) M60L probably benign Het
Slc12a6 G T 2: 112,183,280 (GRCm39) V756F probably damaging Het
Slc43a2 G A 11: 75,462,681 (GRCm39) G507D probably damaging Het
Slf1 A G 13: 77,197,248 (GRCm39) S789P probably benign Het
Spata31d1d C A 13: 59,873,871 (GRCm39) M1221I probably benign Het
Srgap1 T C 10: 121,628,276 (GRCm39) N899D probably benign Het
Stag1 G A 9: 100,769,473 (GRCm39) M529I probably benign Het
Tekt3 A G 11: 62,972,085 (GRCm39) D247G probably benign Het
Tmppe A T 9: 114,234,312 (GRCm39) M204L probably benign Het
Tpsg1 G A 17: 25,588,271 (GRCm39) probably benign Het
Ttn A G 2: 76,628,315 (GRCm39) V6288A probably benign Het
Ttn A T 2: 76,723,444 (GRCm39) probably benign Het
Twsg1 C A 17: 66,244,799 (GRCm39) V73F probably damaging Het
Vmn2r102 A G 17: 19,914,450 (GRCm39) T672A probably damaging Het
Vps36 A G 8: 22,692,320 (GRCm39) I66V probably benign Het
Xrcc4 A T 13: 90,149,048 (GRCm39) D157E probably benign Het
Zbbx T A 3: 75,043,761 (GRCm39) Q162L probably damaging Het
Zfp560 T A 9: 20,259,297 (GRCm39) I522L probably benign Het
Zscan20 T C 4: 128,479,539 (GRCm39) N984S 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
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
(F):5'- ACACTCACCCCTGGATATTATGTC -3'
(R):5'- AGGAGCATCTGACATGTGTG -3'

Sequencing Primer
(F):5'- CATAAGCATCTTTGGTGTCACAGAGG -3'
(R):5'- CATGTGTGAAAGGGGACTATGATCTG -3'
Posted On 2018-06-22