Incidental Mutation 'BB011:Or5ak23'
ID 642611
Institutional Source Beutler Lab
Gene Symbol Or5ak23
Ensembl Gene ENSMUSG00000075220
Gene Name olfactory receptor family 5 subfamily AK member 23
Synonyms MOR203-2, Olfr993, GA_x6K02T2Q125-46891524-46890580
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # BB011
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 85244277-85245221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85244563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 220 (Y220C)
Ref Sequence ENSEMBL: ENSMUSP00000097510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099926] [ENSMUST00000213749] [ENSMUST00000214895] [ENSMUST00000215617]
AlphaFold Q8VF75
Predicted Effect probably benign
Transcript: ENSMUST00000099926
AA Change: Y220C

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: Y220C

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 303 1.3e-7 PFAM
Pfam:7tm_1 41 290 2.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213749
Predicted Effect probably benign
Transcript: ENSMUST00000214895
Predicted Effect probably benign
Transcript: ENSMUST00000215617
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,383,281 (GRCm39) K2155E possibly damaging Het
Adgre5 G A 8: 84,456,029 (GRCm39) P256S possibly damaging Het
Adipor1 T A 1: 134,353,731 (GRCm39) V172D probably damaging Het
Ahsa1 T C 12: 87,317,230 (GRCm39) probably null Het
Ankrd11 T C 8: 123,622,641 (GRCm39) I404V possibly damaging Het
Asxl3 G A 18: 22,658,602 (GRCm39) R2204Q probably damaging Het
Barhl2 A G 5: 106,605,515 (GRCm39) S65P unknown Het
Bbx A T 16: 50,044,671 (GRCm39) L630H probably damaging Het
Cars1 T C 7: 143,123,608 (GRCm39) T531A possibly damaging Het
Catsperb T A 12: 101,486,824 (GRCm39) H450Q probably benign Het
Cdt1 T C 8: 123,296,091 (GRCm39) L135P probably damaging Het
Cfap206 T A 4: 34,728,833 (GRCm39) H24L probably benign Het
Cilk1 T C 9: 78,062,746 (GRCm39) L260P probably damaging Het
Cnga4 T A 7: 105,057,028 (GRCm39) V480E probably benign Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Ctcfl G A 2: 172,955,449 (GRCm39) T271I possibly damaging Het
Dlc1 T C 8: 37,038,570 (GRCm39) R1003G probably benign Het
Dnah7b A G 1: 46,258,590 (GRCm39) D1927G probably benign Het
Dscc1 A T 15: 54,945,572 (GRCm39) D374E probably benign Het
Eci2 G A 13: 35,177,053 (GRCm39) Q69* probably null Het
Ep300 C A 15: 81,533,703 (GRCm39) P1920Q unknown Het
Epha5 A G 5: 84,232,705 (GRCm39) Y629H possibly damaging Het
Fat2 G A 11: 55,153,613 (GRCm39) T3533I probably benign Het
Fat3 T C 9: 15,910,593 (GRCm39) N1803S probably damaging Het
Fcrl2 T C 3: 87,166,840 (GRCm39) Y51C probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gcnt2 A T 13: 41,072,040 (GRCm39) K228* probably null Het
Gucy2c A T 6: 136,740,053 (GRCm39) V258E probably benign Het
Hecw1 C A 13: 14,497,113 (GRCm39) L298F probably damaging Het
Hydin T G 8: 111,145,103 (GRCm39) V818G possibly damaging Het
Hykk A G 9: 54,829,524 (GRCm39) Y131C probably damaging Het
Mpo A G 11: 87,685,666 (GRCm39) D48G probably damaging Het
Mrps10 T C 17: 47,689,208 (GRCm39) *202Q probably null Het
Mrps14 T C 1: 160,024,559 (GRCm39) V30A probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Muc2 G T 7: 141,281,631 (GRCm39) G497W probably damaging Het
Nnt A T 13: 119,523,181 (GRCm39) V237D probably damaging Het
Nox4 G T 7: 87,023,589 (GRCm39) V492L probably benign Het
Obscn C G 11: 59,003,381 (GRCm39) E1306Q probably benign Het
Or6aa1 A G 7: 86,043,938 (GRCm39) I256T probably damaging Het
Pard3 A G 8: 128,137,231 (GRCm39) N861S probably benign Het
Pdlim4 G A 11: 53,946,048 (GRCm39) R230* probably null Het
Pinlyp C T 7: 24,241,550 (GRCm39) V159M possibly damaging Het
Plcb1 A T 2: 135,201,613 (GRCm39) T855S probably benign Het
Pot1a T A 6: 25,753,309 (GRCm39) D409V possibly damaging Het
Prom1 T C 5: 44,187,111 (GRCm39) D382G probably benign Het
Prss16 A T 13: 22,192,834 (GRCm39) N83K probably damaging Het
Ptprn2 A G 12: 116,804,884 (GRCm39) D133G probably benign Het
Rasef C T 4: 73,659,166 (GRCm39) probably null Het
Rbak A G 5: 143,160,241 (GRCm39) S271P probably damaging Het
Rbm20 A T 19: 53,666,016 (GRCm39) I60F possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rsf1 G GACGGCCGCC 7: 97,229,116 (GRCm39) probably benign Het
Serpinb3c A G 1: 107,200,904 (GRCm39) L171P probably damaging Het
Slc25a19 T C 11: 115,506,376 (GRCm39) Y211C unknown Het
Sorbs2 C T 8: 46,248,507 (GRCm39) S586L probably damaging Het
Spesp1 A T 9: 62,180,733 (GRCm39) S58R probably benign Het
Spryd3 A G 15: 102,026,762 (GRCm39) I329T probably benign Het
St8sia2 G A 7: 73,616,700 (GRCm39) L113F probably damaging Het
Star T C 8: 26,299,883 (GRCm39) I75T possibly damaging Het
Tasor2 A T 13: 3,644,331 (GRCm39) F129Y possibly damaging Het
Tdrd6 T A 17: 43,938,697 (GRCm39) I784F possibly damaging Het
Tex55 G A 16: 38,632,826 (GRCm39) Q369* probably null Het
Tsc22d4 A G 5: 137,766,273 (GRCm39) I144V unknown Het
Tspan8 T C 10: 115,669,229 (GRCm39) probably null Het
Ttll9 C T 2: 152,804,407 (GRCm39) probably benign Het
Ubr4 T G 4: 139,194,587 (GRCm39) L1160R unknown Het
Ufd1 A G 16: 18,642,035 (GRCm39) Y162C possibly damaging Het
Unc13c A T 9: 73,641,690 (GRCm39) F1268I probably benign Het
Uvssa T C 5: 33,568,295 (GRCm39) I561T probably damaging Het
Vmn2r15 A T 5: 109,434,254 (GRCm39) S817T probably damaging Het
Ybx1 T C 4: 119,139,476 (GRCm39) E173G probably damaging Het
Zc3h6 T C 2: 128,857,400 (GRCm39) S640P possibly damaging Het
Other mutations in Or5ak23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02428:Or5ak23 APN 2 85,244,537 (GRCm39) missense probably benign 0.05
IGL03209:Or5ak23 APN 2 85,244,723 (GRCm39) missense probably benign 0.05
BB001:Or5ak23 UTSW 2 85,244,563 (GRCm39) missense probably benign 0.06
R0591:Or5ak23 UTSW 2 85,245,034 (GRCm39) missense possibly damaging 0.95
R1437:Or5ak23 UTSW 2 85,245,218 (GRCm39) missense probably benign 0.01
R1836:Or5ak23 UTSW 2 85,244,749 (GRCm39) missense probably benign 0.36
R2084:Or5ak23 UTSW 2 85,244,959 (GRCm39) missense probably benign 0.01
R2902:Or5ak23 UTSW 2 85,244,396 (GRCm39) missense possibly damaging 0.79
R2910:Or5ak23 UTSW 2 85,244,695 (GRCm39) missense probably damaging 1.00
R3961:Or5ak23 UTSW 2 85,245,216 (GRCm39) missense possibly damaging 0.69
R4542:Or5ak23 UTSW 2 85,244,287 (GRCm39) missense probably benign
R4635:Or5ak23 UTSW 2 85,245,208 (GRCm39) missense probably damaging 1.00
R5464:Or5ak23 UTSW 2 85,245,057 (GRCm39) frame shift probably null
R5980:Or5ak23 UTSW 2 85,244,509 (GRCm39) missense probably damaging 1.00
R6139:Or5ak23 UTSW 2 85,244,690 (GRCm39) missense probably damaging 1.00
R6356:Or5ak23 UTSW 2 85,245,031 (GRCm39) missense probably damaging 1.00
R6619:Or5ak23 UTSW 2 85,244,425 (GRCm39) missense probably benign 0.05
R6672:Or5ak23 UTSW 2 85,244,948 (GRCm39) missense possibly damaging 0.87
R7326:Or5ak23 UTSW 2 85,244,788 (GRCm39) missense probably damaging 0.99
R7328:Or5ak23 UTSW 2 85,244,668 (GRCm39) missense probably benign 0.32
R7569:Or5ak23 UTSW 2 85,244,479 (GRCm39) missense probably damaging 1.00
R7924:Or5ak23 UTSW 2 85,244,563 (GRCm39) missense probably benign 0.06
R9178:Or5ak23 UTSW 2 85,244,848 (GRCm39) missense probably damaging 1.00
R9363:Or5ak23 UTSW 2 85,244,993 (GRCm39) missense probably damaging 1.00
Z1176:Or5ak23 UTSW 2 85,245,029 (GRCm39) missense possibly damaging 0.90
Z1176:Or5ak23 UTSW 2 85,245,007 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACAGAGGCCACTTTCATATTC -3'
(R):5'- CCCGAAAAGTCTGCATCCAG -3'

Sequencing Primer
(F):5'- AGAGGCCACTTTCATATTCTCCTCG -3'
(R):5'- CAGATGGTAGCTGGCTCCTATC -3'
Posted On 2020-08-01