Incidental Mutation 'R0677:Or6c2b'
ID 61685
Institutional Source Beutler Lab
Gene Symbol Or6c2b
Ensembl Gene ENSMUSG00000042801
Gene Name olfactory receptor family 6 subfamily C member 2B
Synonyms Olfr769, MOR114-14, GA_x6K02T2PULF-10797876-10796938
MMRRC Submission 038862-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R0677 (G1)
Quality Score 132
Status Not validated
Chromosome 10
Chromosomal Location 128947354-128948292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128947947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 116 (M116L)
Ref Sequence ENSEMBL: ENSMUSP00000149008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050915] [ENSMUST00000215453] [ENSMUST00000216906]
AlphaFold Q8K501
Predicted Effect probably damaging
Transcript: ENSMUST00000050915
AA Change: M116L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059078
Gene: ENSMUSG00000042801
AA Change: M116L

DomainStartEndE-ValueType
Pfam:7tm_4 29 309 1.2e-47 PFAM
Pfam:7tm_1 39 288 4.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215453
AA Change: M116L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216906
AA Change: M116L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.6%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik G A 6: 132,603,520 (GRCm39) Q79* probably null Het
Apol8 A C 15: 77,634,051 (GRCm39) I175S probably damaging Het
BC004004 T C 17: 29,517,638 (GRCm39) F284S probably damaging Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dchs1 G A 7: 105,414,191 (GRCm39) R875C probably damaging Het
Depdc5 A C 5: 33,058,814 (GRCm39) N261T probably damaging Het
Flrt1 A T 19: 7,073,544 (GRCm39) C334* probably null Het
Galnt5 T A 2: 57,888,992 (GRCm39) Y197* probably null Het
Gp5 A G 16: 30,127,193 (GRCm39) S494P probably benign Het
Ifnlr1 T A 4: 135,432,945 (GRCm39) D460E possibly damaging Het
Mrgpra4 C T 7: 47,630,728 (GRCm39) S291N probably benign Het
Msh4 G A 3: 153,585,004 (GRCm39) P367S possibly damaging Het
Myct1 G T 10: 5,554,261 (GRCm39) V43F probably benign Het
Ndst2 G A 14: 20,779,647 (GRCm39) R198W probably benign Het
Ogdhl A T 14: 32,061,882 (GRCm39) H500L probably damaging Het
Or52s1 C T 7: 102,862,005 (GRCm39) R302* probably null Het
Pkhd1 C T 1: 20,594,454 (GRCm39) G1220S probably benign Het
Slc26a4 A G 12: 31,599,910 (GRCm39) probably null Het
Spata31g1 T A 4: 42,970,952 (GRCm39) L59* probably null Het
Sytl1 A T 4: 132,980,536 (GRCm39) C551S possibly damaging Het
Uri1 T C 7: 37,664,925 (GRCm39) N256D probably benign Het
Vmn2r114 T G 17: 23,529,568 (GRCm39) D178A probably damaging Het
Vmn2r23 C T 6: 123,690,410 (GRCm39) L429F probably benign Het
Washc2 T C 6: 116,221,577 (GRCm39) L685P probably damaging Het
Wipi2 A T 5: 142,643,989 (GRCm39) I124F probably damaging Het
Other mutations in Or6c2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Or6c2b APN 10 128,947,893 (GRCm39) missense probably benign 0.01
IGL02556:Or6c2b APN 10 128,947,904 (GRCm39) missense probably damaging 1.00
IGL02699:Or6c2b APN 10 128,947,640 (GRCm39) missense probably benign 0.00
R0503:Or6c2b UTSW 10 128,947,671 (GRCm39) missense probably damaging 0.98
R1697:Or6c2b UTSW 10 128,947,737 (GRCm39) missense probably benign 0.01
R2992:Or6c2b UTSW 10 128,947,404 (GRCm39) nonsense probably null
R3922:Or6c2b UTSW 10 128,947,482 (GRCm39) missense possibly damaging 0.78
R7084:Or6c2b UTSW 10 128,947,416 (GRCm39) nonsense probably null
R7301:Or6c2b UTSW 10 128,947,568 (GRCm39) missense probably damaging 1.00
R7488:Or6c2b UTSW 10 128,947,605 (GRCm39) missense probably benign 0.03
R9083:Or6c2b UTSW 10 128,947,892 (GRCm39) missense probably damaging 0.97
RF021:Or6c2b UTSW 10 128,948,211 (GRCm39) missense probably damaging 0.99
Z1177:Or6c2b UTSW 10 128,947,815 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTGCCATAGGTGATGGAAACCAC -3'
(R):5'- TGGGGCTGACAGATGACCCAAAAC -3'

Sequencing Primer
(F):5'- CTCTATAAAGGCCGTGTCTGAGC -3'
(R):5'- TATATTGAGTGTGACAGGGAACCTC -3'
Posted On 2013-07-30