Incidental Mutation 'R6088:Or5ak20'
ID 486071
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 044245-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R6088 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85183339-85184268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85183698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 191 (S191C)
Ref Sequence ENSEMBL: ENSMUSP00000151211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099928] [ENSMUST00000111597] [ENSMUST00000215511]
AlphaFold Q7TRA1
Predicted Effect probably damaging
Transcript: ENSMUST00000099928
AA Change: S191C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097512
Gene: ENSMUSG00000075222
AA Change: S191C

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 damaging
Transcript: ENSMUST00000111597
AA Change: S191C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107224
Gene: ENSMUSG00000075222
AA Change: S191C

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 damaging
Transcript: ENSMUST00000215511
AA Change: S191C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 59,035,174 (GRCm39) V360F probably damaging Het
Ankrd17 C T 5: 90,401,547 (GRCm39) E1605K possibly damaging Het
Arid4a A G 12: 71,069,010 (GRCm39) D54G probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Bltp3a G A 17: 28,103,579 (GRCm39) probably null Het
Card6 A T 15: 5,134,501 (GRCm39) V234E possibly damaging Het
Cd1d1 G T 3: 86,906,009 (GRCm39) Q89K probably benign Het
Ciita G A 16: 10,329,795 (GRCm39) R693K probably damaging Het
Cox7a2l G T 17: 83,811,401 (GRCm39) L77I probably benign Het
Crybg2 A T 4: 133,803,101 (GRCm39) probably null Het
Cts8 T C 13: 61,401,780 (GRCm39) N39S probably benign Het
Def8 G T 8: 124,186,787 (GRCm39) E456* probably null Het
Dld A G 12: 31,390,988 (GRCm39) F153L probably benign Het
Elf1 C T 14: 79,804,701 (GRCm39) T122I probably benign Het
Emilin2 T C 17: 71,562,119 (GRCm39) N961S probably benign Het
Esp24 A G 17: 39,350,901 (GRCm39) I34V probably benign Het
Fam184b C A 5: 45,741,354 (GRCm39) K292N probably damaging Het
Gabrg3 T A 7: 56,634,826 (GRCm39) N119I probably damaging Het
Gucy1b1 T C 3: 81,942,187 (GRCm39) H524R probably damaging Het
Kcp A T 6: 29,502,631 (GRCm39) S205T probably benign Het
Klb C T 5: 65,506,356 (GRCm39) T201M probably benign Het
Lamp3 A T 16: 19,492,148 (GRCm39) F365L probably damaging Het
Mad1l1 T A 5: 140,179,718 (GRCm39) H390L probably benign Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Myo5b T A 18: 74,853,969 (GRCm39) L1196Q possibly damaging Het
Ndufb8 A G 19: 44,543,464 (GRCm39) S70P probably benign Het
Neb T C 2: 52,099,354 (GRCm39) D4832G probably damaging Het
Niban2 T C 2: 32,813,135 (GRCm39) V540A probably damaging Het
Nr5a1 T C 2: 38,592,007 (GRCm39) D322G probably benign Het
Or1e1d-ps1 A T 11: 73,819,649 (GRCm39) T273S probably benign Het
Oscar G A 7: 3,614,311 (GRCm39) P143S probably benign Het
Oxa1l T A 14: 54,605,151 (GRCm39) probably null Het
Pafah2 A G 4: 134,140,692 (GRCm39) I221V probably benign Het
Pibf1 T A 14: 99,416,794 (GRCm39) F456I probably benign Het
Pla2g4d C T 2: 120,100,487 (GRCm39) G615D probably damaging Het
Plekhg2 C T 7: 28,060,438 (GRCm39) V964I probably benign Het
Ppip5k1 C A 2: 121,167,944 (GRCm39) V770L probably benign Het
Ppl A T 16: 4,922,852 (GRCm39) L213Q possibly damaging Het
Ptprf G A 4: 118,067,952 (GRCm39) T1785I possibly damaging Het
Pycr2 G A 1: 180,733,801 (GRCm39) G131E probably damaging Het
Rbpj C T 5: 53,808,710 (GRCm39) probably null Het
Rcc1 G T 4: 132,060,153 (GRCm39) D430E probably benign Het
Rhbdf1 A G 11: 32,162,007 (GRCm39) V525A possibly damaging Het
Samd7 G A 3: 30,810,632 (GRCm39) M216I probably benign Het
Ska3 A T 14: 58,054,151 (GRCm39) D266E probably benign Het
Slc1a7 G A 4: 107,869,641 (GRCm39) V569M probably damaging Het
Slc26a1 C T 5: 108,821,872 (GRCm39) E6K possibly damaging Het
Slc4a4 T A 5: 89,345,563 (GRCm39) V741E probably benign Het
St6galnac3 C T 3: 152,912,352 (GRCm39) G164S probably damaging Het
Tgs1 T A 4: 3,595,383 (GRCm39) N517K probably benign Het
Tns4 A G 11: 98,964,546 (GRCm39) S522P probably damaging Het
Trpm1 A T 7: 63,917,724 (GRCm39) M355L probably damaging Het
Trpm8 G A 1: 88,234,400 (GRCm39) probably benign Het
V1ra8 T C 6: 90,180,082 (GRCm39) F95S probably damaging Het
Zfp521 A C 18: 13,979,166 (GRCm39) S416A possibly damaging Het
Zfp574 T A 7: 24,779,764 (GRCm39) V262E probably benign Het
Zfp740 T A 15: 102,117,243 (GRCm39) I77N probably damaging Het
Zscan18 A T 7: 12,509,125 (GRCm39) probably benign 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
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'- GATACATGTAGGCGAGAGTCC -3'
(R):5'- TGTAACCCACTGCGCTATCC -3'

Sequencing Primer
(F):5'- TACATGTAGGCGAGAGTCCCATAG -3'
(R):5'- CCATAGTCATGTCCCAGAGACTGTG -3'
Posted On 2017-08-16