Incidental Mutation 'R0345:Or5ak22'
ID 38369
Institutional Source Beutler Lab
Gene Symbol Or5ak22
Ensembl Gene ENSMUSG00000075221
Gene Name olfactory receptor family 5 subfamily AK member 22
Synonyms MOR203-1, Olfr992, GA_x6K02T2Q125-46877170-46876241
MMRRC Submission 038552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R0345 (G1)
Quality Score 212
Status Validated
Chromosome 2
Chromosomal Location 85229946-85230875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85230685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 64 (Q64R)
Ref Sequence ENSEMBL: ENSMUSP00000149333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099927] [ENSMUST00000213749] [ENSMUST00000214895] [ENSMUST00000215617]
AlphaFold Q8VGC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099927
AA Change: Q64R

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097511
Gene: ENSMUSG00000075221
AA Change: Q64R

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.3e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 285 3.3e-6 PFAM
Pfam:7tm_1 41 290 7.1e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213749
AA Change: Q64R

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214895
AA Change: Q64R

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000215617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215967
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T C 14: 59,377,079 (GRCm39) N105D possibly damaging Het
A2m T C 6: 121,615,231 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,415,198 (GRCm39) N641S probably damaging Het
Aff4 T A 11: 53,263,708 (GRCm39) S243T probably benign Het
Agap2 A G 10: 126,923,764 (GRCm39) H713R unknown Het
Ap2a2 T A 7: 141,211,206 (GRCm39) M914K probably damaging Het
Bcl7c A T 7: 127,307,635 (GRCm39) M22K possibly damaging Het
Cacna1i A T 15: 80,256,663 (GRCm39) D1019V probably damaging Het
Cd7 T C 11: 120,929,012 (GRCm39) T80A probably benign Het
Chia1 T C 3: 106,029,755 (GRCm39) Y130H probably damaging Het
Chmp6 T C 11: 119,808,872 (GRCm39) probably benign Het
Chrnb4 A G 9: 54,942,878 (GRCm39) V132A probably benign Het
Ctnna3 A G 10: 63,402,619 (GRCm39) D110G probably benign Het
Cyp2d37-ps A T 15: 82,573,975 (GRCm39) noncoding transcript Het
Dnah6 T C 6: 72,998,240 (GRCm39) M4061V probably benign Het
Dydc2 C A 14: 40,783,903 (GRCm39) M73I probably benign Het
Egflam G T 15: 7,319,475 (GRCm39) probably null Het
Fam228b C T 12: 4,798,351 (GRCm39) V151I possibly damaging Het
Fanca C T 8: 124,031,552 (GRCm39) V380I probably damaging Het
Gbp2b T C 3: 142,313,944 (GRCm39) L408S probably damaging Het
Kcnh4 T C 11: 100,648,507 (GRCm39) S66G probably benign Het
Kcnq3 A T 15: 65,892,154 (GRCm39) V407D possibly damaging Het
Kif24 A T 4: 41,428,413 (GRCm39) D182E probably benign Het
Llgl2 A G 11: 115,740,818 (GRCm39) probably benign Het
Lmo7 T A 14: 102,114,313 (GRCm39) N140K probably damaging Het
Myo5c A G 9: 75,204,701 (GRCm39) E1518G probably damaging Het
Myof A T 19: 38,012,793 (GRCm39) N47K probably damaging Het
Nckap1 G T 2: 80,375,321 (GRCm39) probably benign Het
Nlrp1a C A 11: 71,014,501 (GRCm39) G250W probably damaging Het
Nol4l T A 2: 153,253,672 (GRCm39) S390C probably benign Het
Or2ag2b T C 7: 106,417,908 (GRCm39) F206S probably benign Het
Or52e18 T A 7: 104,609,388 (GRCm39) M184L probably damaging Het
Or5h26 G A 16: 58,988,269 (GRCm39) P79L possibly damaging Het
Plec G T 15: 76,061,367 (GRCm39) P2886T probably damaging Het
Prdm16 T C 4: 154,425,568 (GRCm39) Y738C probably benign Het
Ptprz1 A G 6: 23,016,164 (GRCm39) Y820C probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sgce G A 6: 4,718,019 (GRCm39) P98S probably damaging Het
Siglecf T C 7: 43,001,368 (GRCm39) F112S probably damaging Het
Slc6a16 C T 7: 44,908,672 (GRCm39) A84V possibly damaging Het
Sntb2 T C 8: 107,728,170 (GRCm39) S373P probably damaging Het
Sorcs2 C T 5: 36,185,218 (GRCm39) V953I probably benign Het
Spata31f1a T C 4: 42,851,116 (GRCm39) I347V probably benign Het
St7l T C 3: 104,803,125 (GRCm39) probably benign Het
Stap2 A G 17: 56,307,097 (GRCm39) V217A probably damaging Het
Stxbp5l A T 16: 37,108,670 (GRCm39) D215E probably damaging Het
Synm C T 7: 67,385,569 (GRCm39) V256I probably benign Het
Syt13 A C 2: 92,776,412 (GRCm39) E233A possibly damaging Het
Tecta T A 9: 42,295,514 (GRCm39) E327V probably damaging Het
Tent5b A T 4: 133,213,522 (GRCm39) Q131L probably benign Het
Themis3 A T 17: 66,866,540 (GRCm39) probably null Het
Ttll13 T A 7: 79,897,084 (GRCm39) D14E probably benign Het
Tubb2a A C 13: 34,260,620 (GRCm39) D26E probably benign Het
Ubr1 T C 2: 120,734,584 (GRCm39) probably null Het
Vps13d A T 4: 144,844,195 (GRCm39) V2537E possibly damaging Het
Zscan10 T A 17: 23,829,056 (GRCm39) F456I probably damaging Het
Zyg11b A G 4: 108,123,604 (GRCm39) I121T probably damaging Het
Other mutations in Or5ak22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Or5ak22 APN 2 85,230,515 (GRCm39) missense probably damaging 1.00
IGL02538:Or5ak22 APN 2 85,230,647 (GRCm39) missense probably damaging 1.00
IGL02550:Or5ak22 APN 2 85,230,166 (GRCm39) missense probably damaging 0.99
R0128:Or5ak22 UTSW 2 85,230,305 (GRCm39) missense probably damaging 0.99
R0130:Or5ak22 UTSW 2 85,230,305 (GRCm39) missense probably damaging 0.99
R0413:Or5ak22 UTSW 2 85,230,019 (GRCm39) missense probably damaging 1.00
R0535:Or5ak22 UTSW 2 85,230,439 (GRCm39) missense possibly damaging 0.71
R1243:Or5ak22 UTSW 2 85,230,617 (GRCm39) missense probably benign
R1255:Or5ak22 UTSW 2 85,230,647 (GRCm39) missense probably damaging 1.00
R1293:Or5ak22 UTSW 2 85,230,697 (GRCm39) splice site probably null
R1840:Or5ak22 UTSW 2 85,230,512 (GRCm39) missense probably benign 0.42
R1847:Or5ak22 UTSW 2 85,230,785 (GRCm39) missense probably damaging 0.99
R2300:Or5ak22 UTSW 2 85,230,476 (GRCm39) missense probably benign
R4574:Or5ak22 UTSW 2 85,230,370 (GRCm39) missense probably damaging 1.00
R4872:Or5ak22 UTSW 2 85,230,772 (GRCm39) missense probably damaging 1.00
R5435:Or5ak22 UTSW 2 85,230,814 (GRCm39) missense probably benign 0.05
R6846:Or5ak22 UTSW 2 85,230,861 (GRCm39) missense probably damaging 1.00
R7075:Or5ak22 UTSW 2 85,230,544 (GRCm39) missense probably damaging 1.00
R7253:Or5ak22 UTSW 2 85,229,983 (GRCm39) missense probably benign 0.00
R7454:Or5ak22 UTSW 2 85,229,955 (GRCm39) missense probably damaging 0.99
R7880:Or5ak22 UTSW 2 85,230,379 (GRCm39) missense possibly damaging 0.71
R9098:Or5ak22 UTSW 2 85,229,995 (GRCm39) missense probably damaging 1.00
R9345:Or5ak22 UTSW 2 85,230,097 (GRCm39) missense probably benign 0.27
R9756:Or5ak22 UTSW 2 85,230,682 (GRCm39) missense probably damaging 1.00
RF007:Or5ak22 UTSW 2 85,230,137 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCATAGTGTATGAACCAAGCAGCAG -3'
(R):5'- CCTGGGATTCGCTGGTCAAAATGAG -3'

Sequencing Primer
(F):5'- TCTCTGGGACATGATAATAGGATAGC -3'
(R):5'- CTGGTCAAAATGAGTCTTGGCAC -3'
Posted On 2013-05-23