Incidental Mutation 'R1353:Or2a20'
ID 157091
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 039418-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R1353 (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 A at 43194624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 259 (M259K)
Ref Sequence ENSEMBL: ENSMUSP00000149678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076752] [ENSMUST00000216562]
AlphaFold Q8VF17
Predicted Effect probably benign
Transcript: ENSMUST00000076752
AA Change: M259K

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000076039
Gene: ENSMUSG00000059411
AA Change: M259K

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 benign
Transcript: ENSMUST00000216562
AA Change: M259K

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.1%
  • 20x: 86.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn2 T C 4: 66,184,572 (GRCm39) Q175R unknown Het
Capn9 A C 8: 125,332,305 (GRCm39) probably null Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Chd7 A G 4: 8,839,556 (GRCm39) N1364S probably damaging Het
Cmya5 A T 13: 93,178,033 (GRCm39) V3607E probably damaging Het
Crb2 T C 2: 37,677,293 (GRCm39) C262R probably damaging Het
Cyp2t4 A G 7: 26,856,055 (GRCm39) N204S probably benign Het
Epha1 T C 6: 42,338,771 (GRCm39) T676A probably damaging Het
Fancm G A 12: 65,134,944 (GRCm39) V246M probably damaging Het
Fcrl5 T C 3: 87,355,669 (GRCm39) S461P probably damaging Het
Gen1 A T 12: 11,293,220 (GRCm39) L394Q probably benign Het
Hsdl2 G T 4: 59,596,971 (GRCm39) probably null Het
Klri2 C T 6: 129,716,049 (GRCm39) G97S probably damaging Het
Lypla2 T C 4: 135,697,778 (GRCm39) I55V probably null Het
Malrd1 A G 2: 16,132,779 (GRCm39) D1900G unknown Het
Map1b A G 13: 99,563,834 (GRCm39) S2378P unknown Het
Marchf3 A T 18: 56,909,177 (GRCm39) probably null Het
Myom2 G T 8: 15,156,424 (GRCm39) W757L probably damaging Het
Nat10 T A 2: 103,584,418 (GRCm39) M120L possibly damaging Het
Ncam2 T G 16: 80,997,803 (GRCm39) M1R probably null Het
Ncoa4 G T 14: 31,892,815 (GRCm39) G33* probably null Het
Or1j1 C A 2: 36,702,926 (GRCm39) M59I possibly damaging Het
Or1x2 G A 11: 50,917,833 (GRCm39) M1I probably null Het
Or4p21 T C 2: 88,276,895 (GRCm39) H129R probably benign Het
Or6c38 C T 10: 128,929,733 (GRCm39) V37I probably benign Het
Or8b41 A C 9: 38,055,024 (GRCm39) I198L probably benign Het
Osbpl8 A G 10: 111,112,340 (GRCm39) N485S probably damaging Het
Pkdrej A T 15: 85,703,119 (GRCm39) V939E probably damaging Het
Plaa T C 4: 94,459,926 (GRCm39) E607G possibly damaging Het
Rtel1 T A 2: 180,991,024 (GRCm39) C285S probably benign Het
Rtl1 A C 12: 109,558,633 (GRCm39) C1069G probably benign Het
Rtn4 C A 11: 29,657,595 (GRCm39) A583E probably damaging Het
Runx1 T A 16: 92,485,939 (GRCm39) R32* probably null Het
Sdcbp A G 4: 6,381,057 (GRCm39) I67M probably damaging Het
Slc22a12 G C 19: 6,587,812 (GRCm39) L259V possibly damaging Het
Sptlc2 A G 12: 87,388,520 (GRCm39) S321P probably damaging Het
Tmem30c C T 16: 57,098,028 (GRCm39) G131D probably damaging Het
Tnfaip2 A T 12: 111,411,403 (GRCm39) Q9L probably damaging Het
Ttn T C 2: 76,576,910 (GRCm39) Y24661C probably damaging Het
Vmn2r77 T G 7: 86,451,394 (GRCm39) F427V probably benign Het
Zcchc4 A G 5: 52,964,419 (GRCm39) I292V probably benign Het
Zfp354b A T 11: 50,814,240 (GRCm39) H228Q probably damaging Het
Zfp84 T A 7: 29,475,600 (GRCm39) N97K probably benign Het
Zfp976 T C 7: 42,265,442 (GRCm39) D49G probably damaging Het
Zgrf1 C T 3: 127,405,452 (GRCm39) T1550I probably damaging 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
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
R5084:Or2a20 UTSW 6 43,194,594 (GRCm39) missense probably damaging 1.00
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'- TGTGAAATCCTGTCTGTCCTCAAGC -3'
(R):5'- AGATTTATGGTCCGAACACCACACC -3'

Sequencing Primer
(F):5'- AATCAGGTCGTTATCTTTGCAGC -3'
(R):5'- CACCAACCAGGAATGACTTTCTTTG -3'
Posted On 2014-02-11