Incidental Mutation 'IGL00959:Or6c2b'
ID 28384
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 # IGL00959
Quality Score
Status
Chromosome 10
Chromosomal Location 128947354-128948292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128947893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 134 (M134L)
Ref Sequence ENSEMBL: ENSMUSP00000149008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050915] [ENSMUST00000215453] [ENSMUST00000216906]
AlphaFold Q8K501
Predicted Effect probably benign
Transcript: ENSMUST00000050915
AA Change: M134L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000059078
Gene: ENSMUSG00000042801
AA Change: M134L

DomainStartEndE-ValueType
Pfam:7tm_4 29 309 1.2e-47 PFAM
Pfam:7tm_1 39 288 4.9e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215453
AA Change: M134L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000216906
AA Change: M134L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b A T 11: 69,057,069 (GRCm39) H430L probably damaging Het
Aox4 G T 1: 58,278,333 (GRCm39) V443F probably damaging Het
Bmpr2 A T 1: 59,854,474 (GRCm39) I108F possibly damaging Het
Cflar G A 1: 58,768,321 (GRCm39) probably null Het
Chchd3 A G 6: 32,945,188 (GRCm39) V106A probably benign Het
Chl1 G T 6: 103,686,211 (GRCm39) probably null Het
Clvs2 C T 10: 33,404,459 (GRCm39) M252I probably benign Het
Cntnap5a T A 1: 116,112,057 (GRCm39) L449Q probably benign Het
Col6a2 T A 10: 76,450,368 (GRCm39) I188F probably damaging Het
Cyp2c55 A G 19: 39,026,587 (GRCm39) D398G probably benign Het
Dennd1b T C 1: 139,071,626 (GRCm39) probably benign Het
Dop1a T A 9: 86,369,484 (GRCm39) Y106N probably damaging Het
Dpy19l1 A T 9: 24,334,493 (GRCm39) probably null Het
Extl3 C T 14: 65,314,361 (GRCm39) V274I probably benign Het
Fras1 G A 5: 96,929,140 (GRCm39) R3848H probably damaging Het
Gm11437 A C 11: 84,039,448 (GRCm39) probably benign Het
Gss T A 2: 155,423,871 (GRCm39) D2V probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilvbl G A 10: 78,419,739 (GRCm39) D548N probably damaging Het
Jmjd6 A T 11: 116,733,202 (GRCm39) D115E possibly damaging Het
Kidins220 T A 12: 25,101,132 (GRCm39) S1110R possibly damaging Het
Kmt2c T A 5: 25,481,227 (GRCm39) I4784F probably damaging Het
Mrpl52 T C 14: 54,664,494 (GRCm39) V11A possibly damaging Het
Myo3b A G 2: 70,144,636 (GRCm39) Y1036C probably damaging Het
Omp T C 7: 97,794,357 (GRCm39) D90G probably damaging Het
Osmr T C 15: 6,854,086 (GRCm39) I541V probably benign Het
Ppp2r1a A T 17: 21,181,840 (GRCm39) probably benign Het
Ptpn13 T A 5: 103,665,437 (GRCm39) probably null Het
Rock2 C A 12: 17,028,056 (GRCm39) N1429K probably benign Het
Saxo4 A T 19: 10,454,887 (GRCm39) probably null Het
Slc25a20 T G 9: 108,559,198 (GRCm39) M188R possibly damaging Het
Slc28a1 T C 7: 80,818,816 (GRCm39) probably benign Het
Sult2a6 T C 7: 13,988,634 (GRCm39) Y42C probably damaging Het
Tgfb2 A G 1: 186,436,784 (GRCm39) V63A probably benign Het
Ugt2b38 A T 5: 87,559,682 (GRCm39) N403K probably damaging Het
Vmn2r29 A G 7: 7,244,855 (GRCm39) W340R probably benign Het
Wnt5a C T 14: 28,244,866 (GRCm39) T351M probably damaging Het
Other mutations in Or6c2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17