Incidental Mutation 'R5171:Or5ak20'
ID 398676
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 042751-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R5171 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 85183339-85184268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85184114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 52 (D52G)
Ref Sequence ENSEMBL: ENSMUSP00000151211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099928] [ENSMUST00000111597] [ENSMUST00000215511]
AlphaFold Q7TRA1
Predicted Effect probably benign
Transcript: ENSMUST00000099928
AA Change: D52G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097512
Gene: ENSMUSG00000075222
AA Change: D52G

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 benign
Transcript: ENSMUST00000111597
AA Change: D52G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107224
Gene: ENSMUSG00000075222
AA Change: D52G

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 benign
Transcript: ENSMUST00000215511
AA Change: D52G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,670,584 (GRCm39) Q269K probably benign Het
Acad9 T A 3: 36,128,547 (GRCm39) I136N possibly damaging Het
Adtrp A G 13: 41,931,039 (GRCm39) S183P probably damaging Het
Atp11b C T 3: 35,887,086 (GRCm39) T690I probably damaging Het
Bcl2l12 G A 7: 44,640,818 (GRCm39) probably benign Het
Btnl7-ps T A 17: 34,752,503 (GRCm39) noncoding transcript Het
Ccl12 T C 11: 81,993,460 (GRCm39) C33R probably damaging Het
Cdc25a T A 9: 109,706,229 (GRCm39) S57R probably benign Het
Coro2a T A 4: 46,542,372 (GRCm39) probably benign Het
Cpne6 T C 14: 55,749,605 (GRCm39) V55A possibly damaging Het
Ddn A G 15: 98,704,207 (GRCm39) S362P possibly damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Donson A G 16: 91,478,181 (GRCm39) V258A possibly damaging Het
Gm3336 G A 8: 71,174,524 (GRCm39) V163I probably benign Het
Gper1 C T 5: 139,412,413 (GRCm39) R253C probably damaging Het
Gpsm1 T A 2: 26,217,476 (GRCm39) probably benign Het
Hip1 A G 5: 135,469,156 (GRCm39) S251P probably damaging Het
Ifi214 A G 1: 173,354,200 (GRCm39) S157P possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kntc1 T C 5: 123,937,907 (GRCm39) V1535A probably benign Het
Mbd3l1 A G 9: 18,396,430 (GRCm39) N185S probably benign Het
Mnx1 T C 5: 29,679,851 (GRCm39) Q252R unknown Het
Mroh3 A T 1: 136,119,394 (GRCm39) L463Q possibly damaging Het
Myom1 T C 17: 71,406,967 (GRCm39) V1030A possibly damaging Het
Or3a1d T C 11: 74,237,640 (GRCm39) T257A probably benign Het
Or5w1 T G 2: 87,486,888 (GRCm39) I126L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Ranbp17 A G 11: 33,167,419 (GRCm39) Y1015H probably benign Het
Rasal1 C T 5: 120,801,829 (GRCm39) T256I probably benign Het
Rexo5 T A 7: 119,423,002 (GRCm39) I278N probably damaging Het
Rims2 T A 15: 39,300,499 (GRCm39) S77T probably damaging Het
Sdk2 C T 11: 113,741,808 (GRCm39) A804T probably benign Het
Slc24a2 T A 4: 86,914,871 (GRCm39) I589F probably benign Het
Slc25a38 T A 9: 119,951,181 (GRCm39) I217K probably benign Het
Slc5a7 T C 17: 54,583,704 (GRCm39) T529A probably benign Het
Spata22 T A 11: 73,227,034 (GRCm39) S83T probably damaging Het
Spata31e4 A T 13: 50,854,414 (GRCm39) T91S possibly damaging Het
Stac2 A T 11: 97,934,324 (GRCm39) C127S possibly damaging Het
Tep1 T C 14: 51,062,259 (GRCm39) H2531R probably benign Het
Tmem151a G T 19: 5,132,061 (GRCm39) R382S probably damaging Het
Trim60 T C 8: 65,453,176 (GRCm39) T358A probably benign Het
Unc13c T A 9: 73,665,236 (GRCm39) M1048L probably benign Het
Usp29 T C 7: 6,965,074 (GRCm39) S306P probably damaging Het
Zfp26 T C 9: 20,356,203 (GRCm39) K35R probably benign Het
Zfp462 T A 4: 55,016,986 (GRCm39) probably null 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
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'- GGTTGCAAAAGTACCATAGGC -3'
(R):5'- CAGGGATAATGTCCTCAGCCTTC -3'

Sequencing Primer
(F):5'- GGCTAGTAGCTGTAACATACATCC -3'
(R):5'- GACAGCACAAATCTTGGC -3'
Posted On 2016-07-06