Incidental Mutation 'R5392:Or6c76'
ID 425915
Institutional Source Beutler Lab
Gene Symbol Or6c76
Ensembl Gene ENSMUSG00000050251
Gene Name olfactory receptor family 6 subfamily C member 76
Synonyms GA_x6K02T2PULF-11454600-11455541, Olfr809, MOR108-4
MMRRC Submission 042964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5392 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 129611740-129612726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129612184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 149 (I149V)
Ref Sequence ENSEMBL: ENSMUSP00000151711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059891] [ENSMUST00000203236] [ENSMUST00000203598] [ENSMUST00000204622] [ENSMUST00000218237]
AlphaFold Q8VEX8
Predicted Effect probably benign
Transcript: ENSMUST00000059891
AA Change: I134V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000054949
Gene: ENSMUSG00000050251
AA Change: I134V

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 3.5e-49 PFAM
Pfam:7tm_1 54 303 1.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203236
SMART Domains Protein: ENSMUSP00000145315
Gene: ENSMUSG00000049894

DomainStartEndE-ValueType
Pfam:7tm_4 29 308 1.8e-53 PFAM
Pfam:7tm_1 39 288 7.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203598
AA Change: I134V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000145037
Gene: ENSMUSG00000050251
AA Change: I134V

DomainStartEndE-ValueType
Pfam:7tm_4 29 148 8.1e-20 PFAM
Pfam:7tm_1 39 149 1.8e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204622
AA Change: I149V
SMART Domains Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: I149V

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 3.5e-49 PFAM
Pfam:7tm_1 54 303 1.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218237
AA Change: I149V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,852,088 (GRCm39) probably null Het
Acyp1 T C 12: 85,325,759 (GRCm39) probably benign Het
Ces1b G A 8: 93,798,590 (GRCm39) R199C probably damaging Het
Col6a3 C A 1: 90,729,017 (GRCm39) R1308L probably benign Het
Cpa5 C T 6: 30,630,829 (GRCm39) Q364* probably null Het
Cyth4 T A 15: 78,491,185 (GRCm39) L88Q probably damaging Het
Dock7 A G 4: 98,896,243 (GRCm39) V59A probably damaging Het
Drd2 A G 9: 49,306,928 (GRCm39) N5D possibly damaging Het
Epsti1 T C 14: 78,224,184 (GRCm39) I272T probably benign Het
Fndc3b A T 3: 27,519,936 (GRCm39) C568* probably null Het
Frmd4a C T 2: 4,599,384 (GRCm39) A161V probably damaging Het
Gfpt1 A G 6: 87,054,139 (GRCm39) T465A probably damaging Het
Hecw1 C A 13: 14,420,347 (GRCm39) Q1025H probably damaging Het
Irak4 A T 15: 94,454,565 (GRCm39) M237L probably benign Het
Irak4 T C 15: 94,454,566 (GRCm39) M237T probably benign Het
Kdsr T A 1: 106,680,971 (GRCm39) I76F possibly damaging Het
Kif15 T C 9: 122,825,360 (GRCm39) F533S probably damaging Het
Kmt5b T C 19: 3,852,127 (GRCm39) F103L possibly damaging Het
Krtcap2 C T 3: 89,154,186 (GRCm39) L36F probably benign Het
Mroh7 A G 4: 106,568,448 (GRCm39) probably null Het
Mta1 T C 12: 113,096,856 (GRCm39) V559A probably benign Het
N4bp1 A G 8: 87,587,048 (GRCm39) probably null Het
Oas1d T C 5: 121,055,003 (GRCm39) S192P possibly damaging Het
Or1n1b T A 2: 36,780,686 (GRCm39) Y58F probably benign Het
Or6d15 A G 6: 116,559,379 (GRCm39) F176S probably damaging Het
Rabgap1 T A 2: 37,359,501 (GRCm39) N21K probably damaging Het
Rad9b A T 5: 122,489,641 (GRCm39) C25S probably damaging Het
Spg7 T C 8: 123,814,102 (GRCm39) S454P probably damaging Het
Spink2 T A 5: 77,354,872 (GRCm39) H40L probably benign Het
Syne1 T A 10: 5,298,661 (GRCm39) D1082V probably damaging Het
Syt2 A G 1: 134,671,759 (GRCm39) D179G probably damaging Het
Tm7sf2 T C 19: 6,113,998 (GRCm39) D181G probably damaging Het
Vmn1r174 A G 7: 23,454,227 (GRCm39) I298V unknown Het
Vmn2r23 A T 6: 123,681,323 (GRCm39) H77L probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vps9d1 T C 8: 123,980,752 (GRCm39) E25G probably damaging Het
Zfp119a T C 17: 56,173,328 (GRCm39) R172G probably benign Het
Zfp51 A T 17: 21,685,584 (GRCm39) Y733F possibly damaging Het
Zfp658 A C 7: 43,222,355 (GRCm39) E210A probably benign Het
Zp2 C A 7: 119,734,987 (GRCm39) E433* probably null Het
Other mutations in Or6c76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01884:Or6c76 APN 10 129,612,697 (GRCm39) missense probably benign 0.34
IGL02000:Or6c76 APN 10 129,611,938 (GRCm39) missense probably benign 0.03
IGL02146:Or6c76 APN 10 129,612,727 (GRCm39) utr 3 prime probably benign
IGL03087:Or6c76 APN 10 129,612,130 (GRCm39) missense probably damaging 0.98
IGL03260:Or6c76 APN 10 129,612,521 (GRCm39) missense probably damaging 1.00
G1Funyon:Or6c76 UTSW 10 129,612,709 (GRCm39) missense probably benign 0.06
PIT4466001:Or6c76 UTSW 10 129,612,142 (GRCm39) missense probably benign 0.04
R0564:Or6c76 UTSW 10 129,612,005 (GRCm39) missense probably damaging 1.00
R0613:Or6c76 UTSW 10 129,612,131 (GRCm39) missense probably damaging 1.00
R1165:Or6c76 UTSW 10 129,612,302 (GRCm39) missense probably damaging 0.99
R1556:Or6c76 UTSW 10 129,612,242 (GRCm39) missense probably benign 0.05
R6665:Or6c76 UTSW 10 129,612,116 (GRCm39) missense probably damaging 1.00
R7519:Or6c76 UTSW 10 129,612,091 (GRCm39) missense probably benign 0.01
R7804:Or6c76 UTSW 10 129,612,091 (GRCm39) missense probably benign 0.01
R8022:Or6c76 UTSW 10 129,612,654 (GRCm39) missense possibly damaging 0.47
R8301:Or6c76 UTSW 10 129,612,709 (GRCm39) missense probably benign 0.06
R8447:Or6c76 UTSW 10 129,612,371 (GRCm39) missense possibly damaging 0.89
R9104:Or6c76 UTSW 10 129,612,521 (GRCm39) missense probably damaging 1.00
R9216:Or6c76 UTSW 10 129,611,796 (GRCm39) missense probably benign
R9679:Or6c76 UTSW 10 129,611,882 (GRCm39) missense probably damaging 1.00
R9720:Or6c76 UTSW 10 129,612,581 (GRCm39) missense probably benign 0.07
Z1176:Or6c76 UTSW 10 129,611,911 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACACCCATGTATTTCTTCCTCAG -3'
(R):5'- CTCCAAGGTGCTTGTGTCTG -3'

Sequencing Primer
(F):5'- CATTTACTTCTGTCTGTAATCCTAGG -3'
(R):5'- CAAGGTGCTTGTGTCTGTGCAG -3'
Posted On 2016-08-04