Incidental Mutation 'R5925:Or6c76b'
ID 461795
Institutional Source Beutler Lab
Gene Symbol Or6c76b
Ensembl Gene ENSMUSG00000052818
Gene Name olfactory receptor family 6 subfamily C member 76B
Synonyms GA_x6K02T2PULF-11535078-11536010, MOR108-3, Olfr813
MMRRC Submission 044120-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R5925 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 129692389-129693321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129692744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 119 (D119G)
Ref Sequence ENSEMBL: ENSMUSP00000145260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064893] [ENSMUST00000204622]
AlphaFold Q7TRH5
Predicted Effect probably damaging
Transcript: ENSMUST00000064893
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063431
Gene: ENSMUSG00000052818
AA Change: D119G

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.2e-49 PFAM
Pfam:7tm_1 39 288 3.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204622
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: D119G

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 3.5e-49 PFAM
Pfam:7tm_1 54 303 1.3e-21 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik C T 5: 66,147,735 (GRCm39) W16* probably null Het
Abca8a T C 11: 109,948,049 (GRCm39) D985G probably damaging Het
Afp T A 5: 90,645,147 (GRCm39) C188S probably damaging Het
Ank2 A C 3: 126,726,612 (GRCm39) L894R probably benign Het
Antxr1 A G 6: 87,289,344 (GRCm39) I60T probably damaging Het
Bltp2 T C 11: 78,175,064 (GRCm39) V1733A probably benign Het
Ccdc187 A G 2: 26,183,593 (GRCm39) S136P probably benign Het
Cep95 T C 11: 106,703,227 (GRCm39) S393P probably benign Het
Cyfip2 T C 11: 46,098,263 (GRCm39) Y1053C probably damaging Het
Diaph1 A G 18: 38,024,988 (GRCm39) V491A unknown Het
Dync2i1 A T 12: 116,197,014 (GRCm39) F448I possibly damaging Het
Ehf T C 2: 103,097,338 (GRCm39) probably null Het
Eif2b5 C T 16: 20,326,874 (GRCm39) H99Y probably benign Het
Exosc10 C A 4: 148,657,819 (GRCm39) T655K probably benign Het
Flg A T 3: 93,186,706 (GRCm39) I53F probably damaging Het
Hc T A 2: 34,920,462 (GRCm39) D628V possibly damaging Het
Lmo4 A T 3: 143,900,252 (GRCm39) N83K probably benign Het
Lrp4 A T 2: 91,342,029 (GRCm39) T1881S probably benign Het
Malt1 T A 18: 65,564,439 (GRCm39) L66Q possibly damaging Het
Map3k3 T C 11: 106,040,376 (GRCm39) S314P probably benign Het
Mpzl3 G T 9: 44,973,412 (GRCm39) K50N probably damaging Het
Nbeal2 G T 9: 110,458,948 (GRCm39) Q1992K probably benign Het
Nlrp14 T A 7: 106,785,860 (GRCm39) N645K probably benign Het
Or2g1 T C 17: 38,106,482 (GRCm39) I49T probably benign Het
Pcdha1 T A 18: 37,063,724 (GRCm39) D129E probably damaging Het
Prb1a A G 6: 132,187,475 (GRCm39) L2P unknown Het
Rhbdf1 A G 11: 32,162,906 (GRCm39) Y454H probably benign Het
Satb2 C T 1: 56,836,097 (GRCm39) A565T possibly damaging Het
Sh3pxd2a A T 19: 47,256,051 (GRCm39) L889Q probably damaging Het
Sis T C 3: 72,828,713 (GRCm39) probably null Het
Slc35e2 T C 4: 155,696,084 (GRCm39) V157A probably damaging Het
Slc35f3 T C 8: 127,115,946 (GRCm39) V291A probably benign Het
Snph T C 2: 151,436,151 (GRCm39) D190G probably damaging Het
Tpd52l1 T C 10: 31,208,943 (GRCm39) H170R probably benign Het
Trav18 A G 14: 54,069,152 (GRCm39) T65A probably benign Het
Trip12 G A 1: 84,726,974 (GRCm39) Q9* probably null Het
Ttn C T 2: 76,632,592 (GRCm39) C12408Y probably damaging Het
Ttn T C 2: 76,639,355 (GRCm39) D13806G probably damaging Het
Unc79 G C 12: 103,091,989 (GRCm39) probably null Het
Vmn2r81 T C 10: 79,083,637 (GRCm39) S4P probably damaging Het
Zfp37 G A 4: 62,109,450 (GRCm39) T576I possibly damaging Het
Zfp39 A T 11: 58,782,099 (GRCm39) L221Q possibly damaging Het
Zgrf1 A G 3: 127,366,853 (GRCm39) H744R possibly damaging Het
Other mutations in Or6c76b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Or6c76b APN 10 129,692,497 (GRCm39) missense probably benign 0.00
IGL01650:Or6c76b APN 10 129,692,936 (GRCm39) missense probably damaging 1.00
IGL01734:Or6c76b APN 10 129,692,671 (GRCm39) missense probably benign 0.36
IGL01909:Or6c76b APN 10 129,692,950 (GRCm39) missense probably damaging 0.99
R0256:Or6c76b UTSW 10 129,692,906 (GRCm39) missense probably damaging 1.00
R0607:Or6c76b UTSW 10 129,693,070 (GRCm39) missense possibly damaging 0.67
R0924:Or6c76b UTSW 10 129,692,515 (GRCm39) missense probably damaging 1.00
R1345:Or6c76b UTSW 10 129,692,759 (GRCm39) missense probably damaging 1.00
R1462:Or6c76b UTSW 10 129,693,100 (GRCm39) missense probably damaging 0.98
R1462:Or6c76b UTSW 10 129,693,100 (GRCm39) missense probably damaging 0.98
R2344:Or6c76b UTSW 10 129,692,410 (GRCm39) missense probably benign 0.01
R3851:Or6c76b UTSW 10 129,693,016 (GRCm39) missense probably benign 0.00
R4486:Or6c76b UTSW 10 129,692,567 (GRCm39) missense probably damaging 1.00
R4934:Or6c76b UTSW 10 129,692,896 (GRCm39) missense possibly damaging 0.91
R5397:Or6c76b UTSW 10 129,692,579 (GRCm39) missense probably damaging 1.00
R5644:Or6c76b UTSW 10 129,693,296 (GRCm39) missense probably benign 0.38
R6224:Or6c76b UTSW 10 129,693,061 (GRCm39) missense probably benign 0.17
R7839:Or6c76b UTSW 10 129,692,899 (GRCm39) missense possibly damaging 0.78
R9260:Or6c76b UTSW 10 129,692,458 (GRCm39) missense probably benign 0.01
R9401:Or6c76b UTSW 10 129,693,298 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TGCTGGATTCCCACCTGAAG -3'
(R):5'- TTTGCAGCAAAGGAGCAGAGTC -3'

Sequencing Primer
(F):5'- ACCTGAAGACACCCATGTATTTC -3'
(R):5'- CACAAGTGAAGTGGTCAATAATGTTG -3'
Posted On 2017-02-28