Incidental Mutation 'IGL02556:Or6c2b'
ID 298512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c2b
Ensembl Gene ENSMUSG00000042801
Gene Name olfactory receptor family 6 subfamily C member 2B
Synonyms Olfr769, MOR114-14, GA_x6K02T2PULF-10797876-10796938
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02556
Quality Score
Status
Chromosome 10
Chromosomal Location 128947354-128948292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 128947904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 130 (Y130S)
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: Y130S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059078
Gene: ENSMUSG00000042801
AA Change: Y130S

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: Y130S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216906
AA Change: Y130S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T G 10: 100,446,579 (GRCm39) probably null Het
Ace A G 11: 105,863,353 (GRCm39) D376G probably damaging Het
Adgrb1 C T 15: 74,458,654 (GRCm39) T1252I probably damaging Het
Bhmt T C 13: 93,774,008 (GRCm39) probably benign Het
Ckap5 T C 2: 91,425,186 (GRCm39) probably benign Het
Clcn4 T C 7: 7,299,065 (GRCm39) T37A probably benign Het
Cnmd C T 14: 79,899,400 (GRCm39) V18I probably benign Het
Cryl1 C T 14: 57,513,478 (GRCm39) V248M probably benign Het
D830039M14Rik C T 10: 61,311,262 (GRCm39) probably benign Het
Dido1 T C 2: 180,331,128 (GRCm39) T107A possibly damaging Het
Efna5 C A 17: 62,958,023 (GRCm39) V78F probably damaging Het
Eml1 A G 12: 108,503,625 (GRCm39) I741V probably benign Het
Gfap A G 11: 102,787,780 (GRCm39) L55P probably damaging Het
Itga6 A G 2: 71,669,027 (GRCm39) I606V probably benign Het
Kif2c G T 4: 117,019,802 (GRCm39) D579E probably damaging Het
Lef1 T C 3: 130,988,442 (GRCm39) probably null Het
Lrrc1 T A 9: 77,342,404 (GRCm39) I357L probably benign Het
Lrrc37 A G 11: 103,504,109 (GRCm39) S2620P probably benign Het
Map3k20 T A 2: 72,202,239 (GRCm39) F157I probably damaging Het
Naga A T 15: 82,214,337 (GRCm39) N391K probably damaging Het
Ncaph T C 2: 126,968,025 (GRCm39) probably benign Het
Or11g2 C A 14: 50,856,185 (GRCm39) Q169K probably benign Het
Or12d13 T A 17: 37,647,887 (GRCm39) M79L probably benign Het
Or5ae1 T G 7: 84,565,567 (GRCm39) Y193* probably null Het
Or6b9 T A 7: 106,555,598 (GRCm39) I182F possibly damaging Het
Or8g55 T A 9: 39,784,906 (GRCm39) C112S possibly damaging Het
Pappa C A 4: 65,074,863 (GRCm39) D472E possibly damaging Het
Pdxk G A 10: 78,287,319 (GRCm39) L81F probably damaging Het
Pkhd1 G T 1: 20,380,934 (GRCm39) T2635K probably damaging Het
Psmb6 A T 11: 70,417,248 (GRCm39) H99L possibly damaging Het
Ptpn6 C T 6: 124,705,623 (GRCm39) G135E probably benign Het
Ptprz1 T A 6: 22,972,844 (GRCm39) D251E probably benign Het
Ralgapa1 A G 12: 55,689,234 (GRCm39) V1955A possibly damaging Het
Rsph4a T C 10: 33,781,148 (GRCm39) probably benign Het
Sh2d4b T C 14: 40,542,700 (GRCm39) T359A probably benign Het
Sh3bp5l A G 11: 58,237,087 (GRCm39) D348G probably damaging Het
Skint5 A T 4: 113,797,932 (GRCm39) M217K probably damaging Het
Slc30a6 T C 17: 74,711,054 (GRCm39) L49P probably damaging Het
Slc8a1 C T 17: 81,956,173 (GRCm39) M288I probably benign Het
Tmem127 C A 2: 127,097,922 (GRCm39) probably null Het
Tnfrsf17 T C 16: 11,131,811 (GRCm39) probably benign Het
Trak1 A T 9: 121,277,967 (GRCm39) N341I probably damaging Het
Ubr5 A G 15: 38,002,692 (GRCm39) I1453T probably benign Het
Wdr62 T C 7: 29,944,709 (GRCm39) probably null Het
Xrn2 T C 2: 146,880,216 (GRCm39) probably benign Het
Zscan10 C T 17: 23,827,119 (GRCm39) A144V possibly damaging Het
Other mutations in Or6c2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Or6c2b APN 10 128,947,893 (GRCm39) missense probably benign 0.01
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
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
Posted On 2015-04-16