Incidental Mutation 'R5084:Or2a20'
ID 387298
Institutional Source Beutler Lab
Gene Symbol Or2a20
Ensembl Gene ENSMUSG00000059411
Gene Name olfactory receptor family 2 subfamily A member 2
Synonyms Olfr434, GA_x6K02T2P3E9-4341246-4340281, MOR261-10
MMRRC Submission 042673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R5084 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 43193849-43194814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43194594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 249 (L249P)
Ref Sequence ENSEMBL: ENSMUSP00000149678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076752] [ENSMUST00000216562]
AlphaFold Q8VF17
Predicted Effect probably damaging
Transcript: ENSMUST00000076752
AA Change: L249P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076039
Gene: ENSMUSG00000059411
AA Change: L249P

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 7.7e-62 PFAM
Pfam:7tm_1 40 289 2.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204448
SMART Domains Protein: ENSMUSP00000145171
Gene: ENSMUSG00000059411

DomainStartEndE-ValueType
Pfam:7tm_4 30 156 1.2e-26 PFAM
Pfam:7TM_GPCR_Srsx 34 156 3.5e-6 PFAM
Pfam:7tm_1 40 156 7.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215485
Predicted Effect probably damaging
Transcript: ENSMUST00000216562
AA Change: L249P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,204,116 (GRCm39) E59D probably damaging Het
Akap7 T A 10: 25,155,640 (GRCm39) probably benign Het
Anpep C A 7: 79,476,618 (GRCm39) probably null Het
Aste1 T A 9: 105,274,886 (GRCm39) Y314* probably null Het
Ccdc183 G A 2: 25,498,802 (GRCm39) T497I probably damaging Het
Cd4 A T 6: 124,847,402 (GRCm39) I254N probably damaging Het
Crot G T 5: 9,019,994 (GRCm39) H449Q probably damaging Het
Dact2 A T 17: 14,418,214 (GRCm39) W164R possibly damaging Het
Dapk3 C A 10: 81,026,152 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbrsl1 G A 5: 110,527,272 (GRCm39) probably benign Het
Flg T C 3: 93,184,922 (GRCm39) F15L probably damaging Het
Fscn2 A G 11: 120,252,686 (GRCm39) D51G probably damaging Het
H2-Ob G T 17: 34,460,102 (GRCm39) G71V probably damaging Het
Hmgcs1 T C 13: 120,161,520 (GRCm39) V104A possibly damaging Het
Hs3st4 G T 7: 123,996,518 (GRCm39) D395Y probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Ldlrad3 G A 2: 101,900,329 (GRCm39) R58C probably damaging Het
Lpin1 A G 12: 16,626,983 (GRCm39) S188P probably damaging Het
Mamdc2 G T 19: 23,336,516 (GRCm39) T331K possibly damaging Het
Matr3 G A 18: 35,715,135 (GRCm39) S195N probably damaging Het
Nktr T C 9: 121,577,176 (GRCm39) Y390H possibly damaging Het
Notch3 C T 17: 32,376,864 (GRCm39) probably null Het
Olfm3 T C 3: 114,698,202 (GRCm39) probably null Het
Or10ak11 A G 4: 118,686,767 (GRCm39) V290A probably damaging Het
Or5h25 C T 16: 58,930,436 (GRCm39) C179Y possibly damaging Het
Or7e173 T A 9: 19,938,551 (GRCm39) I228F probably damaging Het
Or7g17 T A 9: 18,768,632 (GRCm39) M237K probably benign Het
Pask A G 1: 93,249,819 (GRCm39) V527A probably benign Het
Pcdha6 A T 18: 37,102,016 (GRCm39) N403I probably damaging Het
Peg3 T C 7: 6,710,848 (GRCm39) E1458G probably damaging Het
Pip4k2b G A 11: 97,610,569 (GRCm39) T386M probably damaging Het
Pkd1l1 T C 11: 8,892,004 (GRCm39) M272V probably benign Het
Plcb4 A G 2: 135,844,571 (GRCm39) E163G probably damaging Het
Plk5 C A 10: 80,194,723 (GRCm39) R149S possibly damaging Het
Pou4f3 A T 18: 42,528,933 (GRCm39) Y292F probably damaging Het
Rasgef1c A G 11: 49,860,332 (GRCm39) K272E probably damaging Het
Rbl2 C T 8: 91,841,759 (GRCm39) T942M probably benign Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Smarca4 T C 9: 21,572,059 (GRCm39) L777P probably damaging Het
Smpd1 T C 7: 105,206,185 (GRCm39) Y438H probably damaging Het
Sorl1 T C 9: 41,887,673 (GRCm39) K2052R probably benign Het
Spata31d1c C A 13: 65,182,944 (GRCm39) P162Q probably damaging Het
Spmip9 A G 6: 70,892,688 (GRCm39) S20P possibly damaging Het
Ston1 A T 17: 88,944,002 (GRCm39) E469D probably benign Het
Syde2 AGTTC AGTTCGTTC 3: 145,707,164 (GRCm39) probably null Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Taar5 T A 10: 23,846,836 (GRCm39) L78Q probably damaging Het
Tas2r114 A T 6: 131,666,251 (GRCm39) L259* probably null Het
Topaz1 T A 9: 122,577,883 (GRCm39) H264Q probably benign Het
Vcl G T 14: 21,059,027 (GRCm39) V548L possibly damaging Het
Vmn2r57 C A 7: 41,075,974 (GRCm39) probably null Het
Vmn2r92 A G 17: 18,405,439 (GRCm39) *861W probably null Het
Ylpm1 T G 12: 85,076,095 (GRCm39) V940G probably damaging Het
Zfp236 A G 18: 82,627,556 (GRCm39) S1500P probably damaging Het
Zfp384 G T 6: 125,000,642 (GRCm39) probably benign Het
Zfp786 T C 6: 47,796,953 (GRCm39) M662V probably benign Het
Other mutations in Or2a20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Or2a20 APN 6 43,194,782 (GRCm39) missense probably benign 0.00
R0347:Or2a20 UTSW 6 43,194,296 (GRCm39) missense probably benign
R1099:Or2a20 UTSW 6 43,194,558 (GRCm39) missense probably damaging 1.00
R1147:Or2a20 UTSW 6 43,194,146 (GRCm39) missense probably damaging 0.99
R1147:Or2a20 UTSW 6 43,194,146 (GRCm39) missense probably damaging 0.99
R1353:Or2a20 UTSW 6 43,194,624 (GRCm39) missense probably benign 0.41
R1570:Or2a20 UTSW 6 43,194,285 (GRCm39) missense probably benign
R1720:Or2a20 UTSW 6 43,194,494 (GRCm39) missense probably damaging 1.00
R2098:Or2a20 UTSW 6 43,194,437 (GRCm39) missense probably benign 0.02
R4707:Or2a20 UTSW 6 43,193,883 (GRCm39) missense probably benign 0.27
R4942:Or2a20 UTSW 6 43,193,928 (GRCm39) missense probably damaging 1.00
R5008:Or2a20 UTSW 6 43,193,991 (GRCm39) missense probably damaging 0.98
R6472:Or2a20 UTSW 6 43,194,293 (GRCm39) missense probably benign
R7592:Or2a20 UTSW 6 43,194,179 (GRCm39) missense probably damaging 1.00
R7756:Or2a20 UTSW 6 43,193,950 (GRCm39) nonsense probably null
R7784:Or2a20 UTSW 6 43,194,322 (GRCm39) missense possibly damaging 0.82
R8056:Or2a20 UTSW 6 43,193,978 (GRCm39) missense probably damaging 0.99
R9093:Or2a20 UTSW 6 43,194,500 (GRCm39) missense probably benign
R9193:Or2a20 UTSW 6 43,194,086 (GRCm39) missense probably benign 0.45
R9745:Or2a20 UTSW 6 43,194,258 (GRCm39) nonsense probably null
R9749:Or2a20 UTSW 6 43,194,258 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAATCCTGTCTGTCCTCAAGC -3'
(R):5'- AACCAGGAATGACTTTCTTTGC -3'

Sequencing Primer
(F):5'- TGTCCTCAAGCTGGCCTGTG -3'
(R):5'- TGCACAGTGACCTCTTGAG -3'
Posted On 2016-06-06