Incidental Mutation 'R2283:Or2b6'
ID 243222
Institutional Source Beutler Lab
Gene Symbol Or2b6
Ensembl Gene ENSMUSG00000036658
Gene Name olfactory receptor family 2 subfamily B member 6
Synonyms GA_x6K02T2QHY8-11597382-11598323, MOR256-11, Olfr11
MMRRC Submission 040282-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R2283 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 21822750-21823691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21823190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 168 (R168C)
Ref Sequence ENSEMBL: ENSMUSP00000146091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043081] [ENSMUST00000205631]
AlphaFold Q60890
Predicted Effect probably damaging
Transcript: ENSMUST00000043081
AA Change: R168C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043099
Gene: ENSMUSG00000036658
AA Change: R168C

DomainStartEndE-ValueType
Pfam:7tm_4 31 311 4.9e-51 PFAM
Pfam:7tm_1 41 290 7.3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205631
AA Change: R168C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,253,635 (GRCm39) E1235G probably damaging Het
Anapc1 A T 2: 128,484,468 (GRCm39) H1165Q probably benign Het
Bhmt G A 13: 93,756,809 (GRCm39) P273L probably damaging Het
Clec18a A G 8: 111,802,140 (GRCm39) V283A probably benign Het
Dlg5 G A 14: 24,208,731 (GRCm39) P825L probably benign Het
Fas G A 19: 34,284,649 (GRCm39) G52D probably damaging Het
Fras1 T C 5: 96,802,164 (GRCm39) I1209T probably benign Het
Gpt2 T A 8: 86,242,818 (GRCm39) D283E probably benign Het
Hrh1 C T 6: 114,457,400 (GRCm39) T227I probably benign Het
Kif26a T C 12: 112,143,787 (GRCm39) F1347S possibly damaging Het
Krt1c T C 15: 101,722,822 (GRCm39) Y392C probably damaging Het
Masp2 A G 4: 148,690,525 (GRCm39) K261E probably benign Het
Nav2 G T 7: 49,141,152 (GRCm39) R899L probably damaging Het
Nuggc T C 14: 65,876,061 (GRCm39) V574A possibly damaging Het
Pcsk4 T C 10: 80,158,584 (GRCm39) E556G probably damaging Het
Ppa1 G A 10: 61,496,788 (GRCm39) W92* probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sp3 A C 2: 72,801,521 (GRCm39) I164S possibly damaging Het
St8sia3 G T 18: 64,404,801 (GRCm39) E359D probably damaging Het
Usp17lb A G 7: 104,489,859 (GRCm39) I355T possibly damaging Het
Zfp608 T A 18: 55,121,446 (GRCm39) K47I probably damaging Het
Zfp931 A G 2: 177,711,714 (GRCm39) V11A possibly damaging Het
Other mutations in Or2b6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02513:Or2b6 APN 13 21,823,510 (GRCm39) missense probably damaging 1.00
R0513:Or2b6 UTSW 13 21,823,119 (GRCm39) missense probably benign 0.26
R0928:Or2b6 UTSW 13 21,823,126 (GRCm39) missense probably damaging 1.00
R1440:Or2b6 UTSW 13 21,823,560 (GRCm39) missense probably benign 0.11
R1673:Or2b6 UTSW 13 21,823,214 (GRCm39) missense probably damaging 1.00
R1705:Or2b6 UTSW 13 21,823,331 (GRCm39) missense probably damaging 1.00
R2080:Or2b6 UTSW 13 21,823,606 (GRCm39) missense probably damaging 0.99
R2187:Or2b6 UTSW 13 21,823,555 (GRCm39) missense probably damaging 0.99
R2340:Or2b6 UTSW 13 21,822,757 (GRCm39) missense probably benign 0.03
R3690:Or2b6 UTSW 13 21,823,508 (GRCm39) missense probably damaging 1.00
R4108:Or2b6 UTSW 13 21,822,952 (GRCm39) missense probably damaging 1.00
R4739:Or2b6 UTSW 13 21,823,340 (GRCm39) missense possibly damaging 0.90
R4740:Or2b6 UTSW 13 21,823,340 (GRCm39) missense possibly damaging 0.90
R5335:Or2b6 UTSW 13 21,822,949 (GRCm39) missense probably damaging 1.00
R5790:Or2b6 UTSW 13 21,823,046 (GRCm39) missense probably benign
R6320:Or2b6 UTSW 13 21,823,418 (GRCm39) missense probably damaging 1.00
R7406:Or2b6 UTSW 13 21,823,316 (GRCm39) missense probably benign 0.16
R7508:Or2b6 UTSW 13 21,822,779 (GRCm39) missense probably benign 0.19
R8054:Or2b6 UTSW 13 21,823,119 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- AGAGCTACAGGTCCCAAACG -3'
(R):5'- ACCGAGTGTGTTCTACTGCC -3'

Sequencing Primer
(F):5'- ATTTTCAAGATGGCACGGGC -3'
(R):5'- AGTGTGTTCTACTGCCAGTCATGTC -3'
Posted On 2014-10-16