Incidental Mutation 'R7213:Or5ak20'
ID 561189
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 045341-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85183339-85184268 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 85183900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 123 (Y123*)
Ref Sequence ENSEMBL: ENSMUSP00000107224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099928] [ENSMUST00000111597] [ENSMUST00000215511]
AlphaFold Q7TRA1
Predicted Effect probably null
Transcript: ENSMUST00000099928
AA Change: Y123*
SMART Domains Protein: ENSMUSP00000097512
Gene: ENSMUSG00000075222
AA Change: Y123*

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 probably null
Transcript: ENSMUST00000111597
AA Change: Y123*
SMART Domains Protein: ENSMUSP00000107224
Gene: ENSMUSG00000075222
AA Change: Y123*

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 probably null
Transcript: ENSMUST00000215511
AA Change: Y123*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S probably 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
R1632:Or5ak20 UTSW 2 85,183,586 (GRCm39) missense possibly damaging 0.78
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
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'- CAAGAATGGGTGGCTCATCG -3'
(R):5'- TGTCACACTCATGGGTAACATTG -3'

Sequencing Primer
(F):5'- GCTCATCGCAGAAAAAGTGATTAATG -3'
(R):5'- CTCATGGGTAACATTGGAATGATCG -3'
Posted On 2019-06-26