Incidental Mutation 'R4930:Or5ac22'
ID 381192
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 042531-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R4930 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 59134851-59135768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59135236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 178 (C178F)
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: C178F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072332
Gene: ENSMUSG00000095928
AA Change: C178F

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: C178F
Predicted Effect probably damaging
Transcript: ENSMUST00000216261
AA Change: C178F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4737 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 99% (88/89)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik C T 12: 72,953,008 (GRCm39) E242K possibly damaging Het
A930011G23Rik A G 5: 99,370,263 (GRCm39) M499T possibly damaging Het
Abcb8 G A 5: 24,605,779 (GRCm39) V196M possibly damaging Het
Ahnak T C 19: 8,988,331 (GRCm39) M3205T possibly damaging Het
Ankrd1 A G 19: 36,092,433 (GRCm39) Y265H probably damaging Het
Apeh A G 9: 107,965,024 (GRCm39) S446P probably benign Het
Apip C A 2: 102,922,226 (GRCm39) Y197* probably null Het
Arhgef11 T G 3: 87,635,901 (GRCm39) V925G probably damaging Het
Arid4b T C 13: 14,362,062 (GRCm39) V929A probably damaging Het
Asah2 T A 19: 32,030,306 (GRCm39) D122V probably benign Het
B2m A T 2: 121,982,128 (GRCm39) D116V possibly damaging Het
Bhmt-ps1 A G 4: 26,369,184 (GRCm39) noncoding transcript Het
Cacna1g T A 11: 94,334,899 (GRCm39) I803F probably damaging Het
Ccdc43 A T 11: 102,581,111 (GRCm39) V113E probably damaging Het
Cenpj A T 14: 56,772,238 (GRCm39) Y388* probably null Het
Chd3 G A 11: 69,245,034 (GRCm39) probably benign Het
Chil3 C T 3: 106,071,524 (GRCm39) D47N possibly damaging Het
Colgalt2 A G 1: 152,375,710 (GRCm39) T361A possibly damaging Het
Cops3 C A 11: 59,726,193 (GRCm39) probably benign Het
Crb2 G T 2: 37,673,326 (GRCm39) G74V probably damaging Het
Cspg4b G T 13: 113,464,196 (GRCm39) G1453C probably damaging Het
Cyp20a1 A T 1: 60,405,878 (GRCm39) Y224F probably damaging Het
Diaph3 A G 14: 87,378,602 (GRCm39) probably benign Het
Dnah3 A T 7: 119,550,904 (GRCm39) Y3127* probably null Het
Eef1akmt3 A C 10: 126,877,224 (GRCm39) S14A possibly damaging Het
Ehf C A 2: 103,097,202 (GRCm39) R250L probably damaging Het
Eps8l1 G A 7: 4,463,915 (GRCm39) R13Q possibly damaging Het
Frem2 A C 3: 53,563,736 (GRCm39) V257G possibly damaging Het
Gc T C 5: 89,587,448 (GRCm39) T259A probably benign Het
Gm4952 A T 19: 12,604,376 (GRCm39) N263Y probably benign Het
Gpcpd1 T A 2: 132,388,794 (GRCm39) H326L probably damaging Het
Helz T C 11: 107,510,994 (GRCm39) F617L probably damaging Het
Hoxb4 T C 11: 96,209,662 (GRCm39) Y23H probably damaging Het
Hsf4 T A 8: 105,999,330 (GRCm39) probably null Het
Ift56 A T 6: 38,368,475 (GRCm39) Y174F probably damaging Het
Ighv1-81 T C 12: 115,883,924 (GRCm39) D109G probably damaging Het
Irx4 T C 13: 73,417,032 (GRCm39) V476A probably benign Het
Katnb1 T A 8: 95,823,922 (GRCm39) probably null Het
L3mbtl1 A G 2: 162,807,692 (GRCm39) Y490C probably damaging Het
Lemd2 A G 17: 27,412,806 (GRCm39) probably null Het
Lrrc38 A T 4: 143,096,438 (GRCm39) T250S probably damaging Het
Map3k8 A T 18: 4,349,215 (GRCm39) Y34* probably null Het
Mgst1 T A 6: 138,130,507 (GRCm39) F79I probably benign Het
Midn T C 10: 79,991,189 (GRCm39) S357P probably benign Het
Mmp3 T A 9: 7,447,640 (GRCm39) D208E probably benign Het
Mrps26 A G 2: 130,406,862 (GRCm39) E163G probably damaging Het
Mycbpap A T 11: 94,393,983 (GRCm39) M371K probably benign Het
Mynn A C 3: 30,661,191 (GRCm39) N91T probably damaging Het
Nek11 A G 9: 105,177,265 (GRCm39) L292P probably damaging Het
Nid1 A T 13: 13,684,596 (GRCm39) R1228W probably damaging Het
Nphs2 T C 1: 156,148,499 (GRCm39) Y121H probably damaging Het
Or1f19 T G 16: 3,410,299 (GRCm39) L13R probably damaging Het
Or4p7 G A 2: 88,222,284 (GRCm39) R231H probably benign Het
Or5ap2 T A 2: 85,680,237 (GRCm39) I147N probably benign Het
Or5d38 A C 2: 87,954,684 (GRCm39) I215S probably benign Het
Or7e176 T C 9: 20,171,313 (GRCm39) I59T probably damaging Het
Or9q2 T C 19: 13,772,915 (GRCm39) H20R probably benign Het
P2rx7 C T 5: 122,808,542 (GRCm39) T308M probably damaging Het
Prdx6 C T 1: 161,069,263 (GRCm39) probably benign Het
Rad54b T A 4: 11,615,579 (GRCm39) D862E probably damaging Het
Ripor1 A G 8: 106,343,814 (GRCm39) Y344C probably damaging Het
Rnf112 T C 11: 61,344,291 (GRCm39) M43V probably benign Het
Rp1l1 A G 14: 64,269,655 (GRCm39) N1747S probably benign Het
Rps27 A G 3: 90,120,306 (GRCm39) V22A probably damaging Het
Spaca1 A G 4: 34,044,236 (GRCm39) V86A possibly damaging Het
Spdef A G 17: 27,937,136 (GRCm39) Y156H probably damaging Het
Specc1 A C 11: 62,009,784 (GRCm39) E433D possibly damaging Het
Srpra T A 9: 35,126,326 (GRCm39) F506L probably benign Het
Stxbp5 A G 10: 9,636,610 (GRCm39) probably benign Het
Syne1 C T 10: 5,002,777 (GRCm39) R8046Q probably damaging Het
Tbx5 T A 5: 120,021,090 (GRCm39) S365R probably benign Het
Terb1 G T 8: 105,174,580 (GRCm39) P698Q probably benign Het
Tmbim7 T A 5: 3,711,948 (GRCm39) Y27* probably null Het
Tmem106c C A 15: 97,862,909 (GRCm39) A60E possibly damaging Het
Ttc6 T A 12: 57,720,609 (GRCm39) probably null Het
Ttn T C 2: 76,562,714 (GRCm39) I28747V possibly damaging Het
Unc13a C T 8: 72,083,148 (GRCm39) probably null Het
Wdr81 T C 11: 75,342,750 (GRCm39) D839G probably benign Het
Wfdc15a G C 2: 164,041,725 (GRCm39) Q33E probably benign Het
Zfp456 T C 13: 67,515,065 (GRCm39) R214G probably benign Het
Zfp457 T A 13: 67,442,164 (GRCm39) Y137F 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
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 2016-04-15