Incidental Mutation 'R0503:Or6c2b'
ID 47268
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 038698-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R0503 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128947354-128948292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128947671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 208 (T208A)
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: T208A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059078
Gene: ENSMUSG00000042801
AA Change: T208A

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: T208A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216906
AA Change: T208A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.2456 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,322 (GRCm39) H755R possibly damaging Het
Atp2c2 A G 8: 120,461,316 (GRCm39) E279G probably null Het
Ccdc65 G T 15: 98,607,041 (GRCm39) D83Y probably damaging Het
Cd200r2 T A 16: 44,698,325 (GRCm39) M1K probably null Het
Clca4c-ps A T 3: 144,585,583 (GRCm39) noncoding transcript Het
Col6a6 A T 9: 105,644,550 (GRCm39) M1246K probably benign Het
Comp A T 8: 70,828,384 (GRCm39) N130I possibly damaging Het
Crot A G 5: 9,026,075 (GRCm39) V304A possibly damaging Het
Dapk1 T A 13: 60,878,662 (GRCm39) probably null Het
Dspp A T 5: 104,325,122 (GRCm39) D495V unknown Het
Erich2 A T 2: 70,340,043 (GRCm39) R169S probably damaging Het
Erich2 C A 2: 70,371,119 (GRCm39) S426R unknown Het
Gab1 C T 8: 81,526,771 (GRCm39) R109H probably damaging Het
Ggcx GTCTAT GTCTATCTAT 6: 72,406,140 (GRCm39) probably null Het
Gria1 T G 11: 57,080,542 (GRCm39) V175G probably damaging Het
Hmcn1 C T 1: 150,735,003 (GRCm39) V170M probably damaging Het
Irx4 T A 13: 73,414,703 (GRCm39) probably null Het
Katnb1 A G 8: 95,821,802 (GRCm39) T212A probably damaging Het
Kirrel1 A G 3: 87,005,109 (GRCm39) S80P probably benign Het
Lrrc75b T C 10: 75,389,488 (GRCm39) T81A possibly damaging Het
Macf1 A G 4: 123,363,608 (GRCm39) S1775P probably damaging Het
Mmp10 A T 9: 7,507,340 (GRCm39) I387F probably damaging Het
Mphosph10 A T 7: 64,039,641 (GRCm39) C110S probably benign Het
Mpig6b A G 17: 35,283,424 (GRCm39) probably benign Het
Mrps27 G T 13: 99,546,303 (GRCm39) probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mybpc2 A G 7: 44,161,994 (GRCm39) probably benign Het
Nbea C T 3: 55,550,257 (GRCm39) G2724S possibly damaging Het
Nck2 A G 1: 43,572,728 (GRCm39) M1V probably null Het
Nefl T A 14: 68,321,432 (GRCm39) D7E probably benign Het
Nktr T A 9: 121,579,806 (GRCm39) probably benign Het
Nlrp12 C T 7: 3,298,007 (GRCm39) E55K probably damaging Het
Nsun7 T A 5: 66,440,924 (GRCm39) probably benign Het
Or10d4c A G 9: 39,558,772 (GRCm39) Y250C probably damaging Het
Or4c109 C T 2: 88,818,322 (GRCm39) V75I probably benign Het
Or4k5 T A 14: 50,385,935 (GRCm39) Y132F probably damaging Het
Or51a5 A T 7: 102,771,643 (GRCm39) M112K possibly damaging Het
Or6f2 T C 7: 139,756,354 (GRCm39) V113A possibly damaging Het
Pcdh15 A G 10: 74,046,217 (GRCm39) T165A probably damaging Het
Pikfyve A T 1: 65,259,058 (GRCm39) H410L probably damaging Het
Polr3c A T 3: 96,620,952 (GRCm39) probably null Het
Ptdss2 T A 7: 140,731,710 (GRCm39) probably benign Het
Ptprg A G 14: 12,237,138 (GRCm38) M1386V possibly damaging Het
Ptpru T C 4: 131,520,954 (GRCm39) N784S probably benign Het
Rfx4 T A 10: 84,730,196 (GRCm39) I495K possibly damaging Het
Serpina12 C A 12: 103,997,418 (GRCm39) A368S probably damaging Het
Tmem39b A C 4: 129,580,779 (GRCm39) Y238D possibly damaging Het
Tspan11 T C 6: 127,916,075 (GRCm39) W124R probably benign Het
Ttll10 T C 4: 156,132,005 (GRCm39) probably benign Het
Tyro3 T C 2: 119,633,711 (GRCm39) probably benign Het
Unc79 A G 12: 103,045,127 (GRCm39) M644V probably benign Het
Vmn1r196 G A 13: 22,477,557 (GRCm39) M65I probably benign Het
Vmn2r85 T C 10: 130,258,609 (GRCm39) Y482C probably damaging Het
Zfp940 A G 7: 29,545,445 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,576,961 (GRCm39) L40* probably null Het
Zkscan1 T A 5: 138,091,588 (GRCm39) I107N 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
R0677:Or6c2b UTSW 10 128,947,947 (GRCm39) missense probably damaging 1.00
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'- TGACGTTGTGAGCACAGATACAACC -3'
(R):5'- AACCGAGTATGCACAGTTCTTGTCC -3'

Sequencing Primer
(F):5'- GTGAGCACAGATACAACCTTATTG -3'
(R):5'- ATGCACAGTTCTTGTCCTCTCC -3'
Posted On 2013-06-12