Incidental Mutation 'R1632:Or5ak20'
ID 172830
Institutional Source Beutler Lab
Gene Symbol Or5ak20
Ensembl Gene ENSMUSG00000075222
Gene Name olfactory receptor family 5 subfamily AK member 20
Synonyms MOR203-5P, GA_x6K02T2Q125-46830591-46829662, Olfr988
MMRRC Submission 039669-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1632 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 85183339-85184268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85183586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 228 (M228K)
Ref Sequence ENSEMBL: ENSMUSP00000151211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099928] [ENSMUST00000111597] [ENSMUST00000215511]
AlphaFold Q7TRA1
Predicted Effect possibly damaging
Transcript: ENSMUST00000099928
AA Change: M228K

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097512
Gene: ENSMUSG00000075222
AA Change: M228K

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 284 1.5e-6 PFAM
Pfam:7tm_1 41 290 3.8e-31 PFAM
Pfam:7tm_4 139 283 3.7e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111597
AA Change: M228K

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107224
Gene: ENSMUSG00000075222
AA Change: M228K

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 8.1e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 284 1.5e-6 PFAM
Pfam:7tm_1 41 290 7.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215511
AA Change: M228K

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgap28 A T 17: 68,156,069 (GRCm39) Y696N probably damaging Het
Cachd1 A G 4: 100,824,169 (GRCm39) T537A probably benign Het
Capn15 A T 17: 26,179,639 (GRCm39) F841Y probably damaging Het
Card10 G A 15: 78,675,420 (GRCm39) R396* probably null Het
Chd9 A T 8: 91,683,335 (GRCm39) K592* probably null Het
Cyp2j8 T A 4: 96,335,561 (GRCm39) H411L probably benign Het
Dhcr24 G T 4: 106,443,148 (GRCm39) M394I probably benign Het
Dhrs3 T C 4: 144,620,116 (GRCm39) V11A probably benign Het
Dync1li2 A T 8: 105,164,123 (GRCm39) I134N probably damaging Het
Enpp4 G T 17: 44,410,544 (GRCm39) S344Y probably damaging Het
Ephb3 T C 16: 21,031,687 (GRCm39) S14P probably benign Het
Fancm T G 12: 65,177,105 (GRCm39) I1983S probably damaging Het
Fndc1 T C 17: 7,992,032 (GRCm39) T555A unknown Het
Gemin4 A T 11: 76,101,815 (GRCm39) M982K probably benign Het
Gtpbp2 A G 17: 46,479,518 (GRCm39) R590G probably benign Het
H2-M3 G A 17: 37,582,054 (GRCm39) R170H probably benign Het
Hoxa13 G T 6: 52,236,917 (GRCm39) N278K probably damaging Het
Hspb3 A G 13: 113,799,589 (GRCm39) V147A probably benign Het
Il6st G T 13: 112,640,866 (GRCm39) D820Y possibly damaging Het
Kdm7a A G 6: 39,129,832 (GRCm39) V448A probably benign Het
Kmt2b T C 7: 30,283,387 (GRCm39) D991G probably damaging Het
Kri1 T C 9: 21,193,507 (GRCm39) D140G possibly damaging Het
Limk2 A G 11: 3,296,250 (GRCm39) L399P probably damaging Het
Lrrc9 T A 12: 72,506,794 (GRCm39) probably null Het
Map2 C T 1: 66,454,245 (GRCm39) T1045M possibly damaging Het
Map4k5 T C 12: 69,874,821 (GRCm39) I321V probably benign Het
Minar1 T A 9: 89,484,413 (GRCm39) H328L probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh7b A G 2: 155,462,445 (GRCm39) S383G probably benign Het
Nhsl3 A G 4: 129,116,459 (GRCm39) M735T possibly damaging Het
Nostrin A G 2: 69,006,078 (GRCm39) K254R probably benign Het
Nphp1 G T 2: 127,612,312 (GRCm39) P212T probably benign Het
Pals1 T A 12: 78,843,812 (GRCm39) Y5* probably null Het
Pclo A C 5: 14,730,017 (GRCm39) probably benign Het
Phf19 G A 2: 34,801,631 (GRCm39) R60W probably damaging Het
Pou2af2 T C 9: 51,201,702 (GRCm39) D118G probably damaging Het
Psg18 G A 7: 18,084,824 (GRCm39) P91S probably benign Het
Rttn C T 18: 89,027,460 (GRCm39) T525I probably benign Het
Ryr1 T C 7: 28,793,686 (GRCm39) M1268V probably benign Het
Slc25a2 T C 18: 37,770,740 (GRCm39) E263G possibly damaging Het
Slc32a1 C T 2: 158,455,810 (GRCm39) A155V possibly damaging Het
Slc6a19 A T 13: 73,838,027 (GRCm39) probably null Het
Socs4 A G 14: 47,527,034 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,260 (GRCm39) I267T probably benign Het
Tpte G A 8: 22,839,363 (GRCm39) C470Y probably damaging Het
Usp17la A T 7: 104,510,118 (GRCm39) H241L probably benign Het
Vmn2r72 T A 7: 85,401,000 (GRCm39) I140F probably benign Het
Zfp329 T C 7: 12,544,876 (GRCm39) D216G possibly damaging Het
Other mutations in Or5ak20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02458:Or5ak20 APN 2 85,184,006 (GRCm39) missense probably benign 0.01
IGL02651:Or5ak20 APN 2 85,183,394 (GRCm39) missense probably damaging 1.00
R0505:Or5ak20 UTSW 2 85,184,093 (GRCm39) missense possibly damaging 0.87
R1574:Or5ak20 UTSW 2 85,184,243 (GRCm39) missense probably damaging 0.97
R1574:Or5ak20 UTSW 2 85,184,243 (GRCm39) missense probably damaging 0.97
R2187:Or5ak20 UTSW 2 85,184,259 (GRCm39) missense probably benign
R2251:Or5ak20 UTSW 2 85,184,202 (GRCm39) missense possibly damaging 0.87
R2252:Or5ak20 UTSW 2 85,184,202 (GRCm39) missense possibly damaging 0.87
R2253:Or5ak20 UTSW 2 85,184,202 (GRCm39) missense possibly damaging 0.87
R3522:Or5ak20 UTSW 2 85,183,347 (GRCm39) missense probably benign 0.06
R4804:Or5ak20 UTSW 2 85,183,425 (GRCm39) missense probably benign 0.22
R4855:Or5ak20 UTSW 2 85,183,793 (GRCm39) missense possibly damaging 0.89
R4895:Or5ak20 UTSW 2 85,183,341 (GRCm39) makesense probably null
R4918:Or5ak20 UTSW 2 85,183,632 (GRCm39) missense probably benign 0.39
R5171:Or5ak20 UTSW 2 85,184,114 (GRCm39) missense probably benign 0.11
R5208:Or5ak20 UTSW 2 85,184,142 (GRCm39) missense probably benign 0.07
R5938:Or5ak20 UTSW 2 85,183,620 (GRCm39) missense probably damaging 1.00
R6088:Or5ak20 UTSW 2 85,183,698 (GRCm39) missense probably damaging 0.99
R7213:Or5ak20 UTSW 2 85,183,900 (GRCm39) nonsense probably null
R8679:Or5ak20 UTSW 2 85,183,953 (GRCm39) missense probably benign 0.01
R8803:Or5ak20 UTSW 2 85,184,078 (GRCm39) missense probably damaging 1.00
R9093:Or5ak20 UTSW 2 85,183,852 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- AAACCATGTGCCATTCAATATGTGCC -3'
(R):5'- TTCTGCGATGAGCCACCCATTC -3'

Sequencing Primer
(F):5'- GGTTTCTCAGACTATAGATCAAGGG -3'
(R):5'- ATGAGCCACCCATTCTTGCC -3'
Posted On 2014-04-24