Incidental Mutation 'R5938:Or5ak20'
ID 462355
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 044131-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5938 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 85183339-85184268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85183620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 217 (S217T)
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: S217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097512
Gene: ENSMUSG00000075222
AA Change: S217T

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: S217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107224
Gene: ENSMUSG00000075222
AA Change: S217T

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: S217T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 94% (63/67)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A C 11: 84,333,400 (GRCm39) D503E possibly damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Cacna1d C T 14: 29,825,692 (GRCm39) V1001I probably damaging Het
Calhm3 T C 19: 47,140,516 (GRCm39) I192M probably damaging Het
Cep44 A G 8: 57,000,457 (GRCm39) S19P possibly damaging Het
Cxcl15 T A 5: 90,949,225 (GRCm39) I130K unknown Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Emc1 T G 4: 139,084,931 (GRCm39) H167Q probably benign Het
Epb41l3 T G 17: 69,566,066 (GRCm39) Y416D probably damaging Het
Erbb2 G A 11: 98,326,397 (GRCm39) R1007H probably damaging Het
Esr1 A G 10: 4,916,245 (GRCm39) probably benign Het
Fat4 G A 3: 39,005,388 (GRCm39) R1929Q probably damaging Het
Fsip2 T A 2: 82,807,835 (GRCm39) C1385S probably benign Het
Gbf1 T C 19: 46,256,891 (GRCm39) I777T probably damaging Het
Gm16092 T G 1: 85,440,689 (GRCm39) noncoding transcript Het
Greb1 T A 12: 16,767,259 (GRCm39) K314N probably damaging Het
Iigp1c C A 18: 60,378,724 (GRCm39) N86K probably damaging Het
Ipcef1 A G 10: 6,858,029 (GRCm39) probably benign Het
Iqank1 G A 15: 75,917,281 (GRCm39) E305K possibly damaging Het
Mgat4a C A 1: 37,491,344 (GRCm39) L292F probably damaging Het
Mill1 A G 7: 17,996,613 (GRCm39) N143S probably benign Het
Mindy1 A G 3: 95,201,067 (GRCm39) T324A probably benign Het
Mpdz T A 4: 81,202,851 (GRCm39) H1882L probably damaging Het
Ncapg2 T A 12: 116,393,277 (GRCm39) W494R probably damaging Het
Oas1c A T 5: 120,943,598 (GRCm39) H180Q probably benign Het
Or2q1 T A 6: 42,794,701 (GRCm39) C99S probably damaging Het
Or4c108 T C 2: 88,803,357 (GRCm39) M293V probably benign Het
Or4k49 A G 2: 111,494,708 (GRCm39) M46V probably benign Het
Or6c88 A G 10: 129,407,396 (GRCm39) R291G probably damaging Het
Pelp1 A G 11: 70,285,693 (GRCm39) V725A probably damaging Het
Plxna4 T C 6: 32,211,541 (GRCm39) E666G probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Prdm16 T C 4: 154,432,411 (GRCm39) D285G probably damaging Het
Rasa2 A G 9: 96,493,442 (GRCm39) S81P possibly damaging Het
Rhd T A 4: 134,623,287 (GRCm39) F418Y probably benign Het
Rnf207 T C 4: 152,402,385 (GRCm39) probably benign Het
Rsf1 C T 7: 97,334,766 (GRCm39) R1300C probably damaging Het
Ryr1 A C 7: 28,746,290 (GRCm39) L3830R probably damaging Het
Sgsh A G 11: 119,237,625 (GRCm39) Y330H probably benign Het
Sh3bp5 T C 14: 31,109,791 (GRCm39) E130G possibly damaging Het
Slc29a3 A G 10: 60,588,563 (GRCm39) probably benign Het
Slco1a5 A G 6: 142,194,443 (GRCm39) L400P probably damaging Het
Snd1 A G 6: 28,874,858 (GRCm39) probably null Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Tas2r110 A T 6: 132,845,016 (GRCm39) I16L probably benign Het
Tmx3 T A 18: 90,546,058 (GRCm39) V213D possibly damaging Het
Uba2 A T 7: 33,864,915 (GRCm39) probably null Het
Wfikkn1 T A 17: 26,097,886 (GRCm39) D112V probably damaging Het
Zfhx4 A G 3: 5,467,198 (GRCm39) N2452S 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
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'- ACAGAAGCTGCCTTTTCTTGC -3'
(R):5'- GACTGTGCATTCTGCTGCTG -3'

Sequencing Primer
(F):5'- GAAGCTGCCTTTTCTTGCTCTTGAG -3'
(R):5'- ATACCATGGGCTTCCTAAATGC -3'
Posted On 2017-02-28