Incidental Mutation 'R1147:Or2a20'
ID 165156
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 039220-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R1147 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43193849-43194814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43194146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 100 (T100S)
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: T100S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076039
Gene: ENSMUSG00000059411
AA Change: T100S

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
AA Change: T100S
SMART Domains Protein: ENSMUSP00000145171
Gene: ENSMUSG00000059411
AA Change: T100S

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: T100S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.2442 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency 98% (47/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T C 8: 41,248,655 (GRCm39) I255T possibly damaging Het
Aknad1 T A 3: 108,659,857 (GRCm39) N290K possibly damaging Het
Ano8 C A 8: 71,934,661 (GRCm39) V447F probably damaging Het
Arhgef12 C T 9: 42,955,552 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l A T 3: 88,892,194 (GRCm39) M1358L possibly damaging Het
Ccdc110 A G 8: 46,397,121 (GRCm39) K837E possibly damaging Het
Cd19 T A 7: 126,010,217 (GRCm39) D384V possibly damaging Het
Ces1f C T 8: 93,984,909 (GRCm39) V473I possibly damaging Het
Chd6 C T 2: 160,832,191 (GRCm39) E994K probably damaging Het
Col5a2 G T 1: 45,415,931 (GRCm39) N1405K probably damaging Het
Dnah7b A G 1: 46,379,426 (GRCm39) D3720G probably damaging Het
Dsel T C 1: 111,789,939 (GRCm39) T199A possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Flacc1 A T 1: 58,708,622 (GRCm39) Y215N probably damaging Het
Hrg G T 16: 22,779,754 (GRCm39) C344F probably damaging Het
Htt T C 5: 35,008,596 (GRCm39) Y1462H probably damaging Het
Kcnh2 T A 5: 24,529,385 (GRCm39) I784F probably damaging Het
Kifc3 T C 8: 95,864,546 (GRCm39) T55A probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lsamp G A 16: 41,994,499 (GRCm39) probably benign Het
Meis3 G A 7: 15,917,701 (GRCm39) probably benign Het
Nlrp4d A T 7: 10,122,644 (GRCm39) N73K probably benign Het
Oog3 A G 4: 143,884,982 (GRCm39) F318S possibly damaging Het
Or52w1 G A 7: 105,018,484 (GRCm39) R308Q probably benign Het
Pde5a C T 3: 122,587,962 (GRCm39) T376M probably damaging Het
Pkhd1l1 A G 15: 44,400,837 (GRCm39) I2204V probably null Het
Ppp1r13l A G 7: 19,109,772 (GRCm39) D731G probably damaging Het
Prob1 G A 18: 35,787,859 (GRCm39) Q132* probably null Het
Ptk6 C T 2: 180,837,590 (GRCm39) G443D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,730,504 (GRCm39) D749G probably damaging Het
Ralgapa1 A T 12: 55,749,265 (GRCm39) D1212E probably damaging Het
Rsad1 T C 11: 94,434,966 (GRCm39) Y290C probably damaging Het
Scamp1 A G 13: 94,361,394 (GRCm39) probably null Het
Slc6a11 T A 6: 114,221,831 (GRCm39) I507N possibly damaging Het
Stx18 T G 5: 38,284,267 (GRCm39) probably benign Het
Sybu A T 15: 44,609,651 (GRCm39) F78I probably damaging Het
Tecpr2 T G 12: 110,907,872 (GRCm39) probably benign Het
Tox A T 4: 6,823,055 (GRCm39) N87K possibly damaging Het
Trrap G A 5: 144,741,576 (GRCm39) G1308R probably damaging Het
Trub2 A G 2: 29,677,644 (GRCm39) probably benign Het
Vmn2r114 A T 17: 23,530,037 (GRCm39) H123Q probably benign Het
Vmn2r15 T A 5: 109,441,072 (GRCm39) Y262F probably damaging Het
Vmn2r33 C T 7: 7,557,144 (GRCm39) E519K probably benign Het
Zfat A T 15: 68,084,432 (GRCm39) probably benign Het
Zfp106 A T 2: 120,351,017 (GRCm39) C1545S 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
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
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'- CAATGATCTGCCTGGACTCCAGAC -3'
(R):5'- CCAGCTTGAGGACAGACAGGATTTC -3'

Sequencing Primer
(F):5'- TGGACTCCAGACTCCACACTC -3'
(R):5'- CCTCAGGATGAGAACTAAATGGACC -3'
Posted On 2014-03-28