Incidental Mutation 'R0578:Or6c8'
ID 56321
Institutional Source Beutler Lab
Gene Symbol Or6c8
Ensembl Gene ENSMUSG00000059762
Gene Name olfactory receptor family 6 subfamily C member 8
Synonyms Olfr767, MOR115-1, GA_x6K02T2PULF-10765431-10764502
MMRRC Submission 038768-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R0578 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128914901-128915830 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128915062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 257 (Y257H)
Ref Sequence ENSEMBL: ENSMUSP00000150151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082131] [ENSMUST00000213579]
AlphaFold Q8VG33
Predicted Effect probably damaging
Transcript: ENSMUST00000082131
AA Change: Y257H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080775
Gene: ENSMUSG00000059762
AA Change: Y257H

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.9e-49 PFAM
Pfam:7tm_1 39 288 3.6e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213579
AA Change: Y257H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1681 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,943,556 (GRCm39) Y56C possibly damaging Het
Abca5 A T 11: 110,167,315 (GRCm39) C1500* probably null Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Adam18 T C 8: 25,131,863 (GRCm39) D416G possibly damaging Het
Afap1l2 T A 19: 56,904,214 (GRCm39) Y691F probably benign Het
Akna A G 4: 63,289,147 (GRCm39) S1259P probably benign Het
Atad2 G A 15: 57,968,964 (GRCm39) T525I probably damaging Het
Atp2a1 T G 7: 126,049,315 (GRCm39) M576L probably benign Het
B4galt6 T C 18: 20,861,013 (GRCm39) probably benign Het
Best3 A G 10: 116,844,904 (GRCm39) D353G probably benign Het
Btg3 A T 16: 78,161,834 (GRCm39) D125E probably benign Het
Cabin1 A T 10: 75,549,444 (GRCm39) D1320E probably damaging Het
Cachd1 A C 4: 100,852,039 (GRCm39) probably benign Het
Cad T C 5: 31,216,120 (GRCm39) V151A probably benign Het
Capns1 A T 7: 29,893,453 (GRCm39) probably benign Het
Catsperg2 T A 7: 29,404,116 (GRCm39) T860S possibly damaging Het
Ccdc61 T C 7: 18,637,400 (GRCm39) T76A probably benign Het
Cdipt T A 7: 126,578,702 (GRCm39) probably null Het
Cyp2d12 G A 15: 82,440,584 (GRCm39) probably benign Het
Dennd4c C A 4: 86,730,659 (GRCm39) P852Q probably damaging Het
Dsg2 G A 18: 20,727,291 (GRCm39) V613I probably benign Het
Dusp16 G C 6: 134,695,284 (GRCm39) L516V probably damaging Het
Eif2ak4 T G 2: 118,305,472 (GRCm39) probably benign Het
Faf2 C T 13: 54,769,658 (GRCm39) A2V possibly damaging Het
Gas2l3 A G 10: 89,252,937 (GRCm39) I236T probably damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Got1 G T 19: 43,504,222 (GRCm39) S66R probably benign Het
Gpr149 T A 3: 62,510,110 (GRCm39) H335L possibly damaging Het
Hadhb A G 5: 30,383,804 (GRCm39) I342M probably benign Het
Helz T A 11: 107,577,226 (GRCm39) V1859D unknown Het
Htr1a T A 13: 105,581,595 (GRCm39) N278K probably damaging Het
Inppl1 T C 7: 101,480,795 (GRCm39) E355G probably damaging Het
Isl2 A G 9: 55,452,319 (GRCm39) Y297C probably damaging Het
Kat7 T C 11: 95,182,350 (GRCm39) H250R probably benign Het
Klhl30 A T 1: 91,282,074 (GRCm39) D225V probably benign Het
Mtch2 T C 2: 90,683,174 (GRCm39) probably benign Het
Muc4 C A 16: 32,755,690 (GRCm38) probably benign Het
Ncoa7 A C 10: 30,577,913 (GRCm39) probably null Het
Nuf2 T A 1: 169,338,118 (GRCm39) probably benign Het
Or5ak24 T C 2: 85,261,017 (GRCm39) D52G probably benign Het
Pced1a T A 2: 130,261,763 (GRCm39) S297C probably damaging Het
Pi15 A T 1: 17,673,073 (GRCm39) K91* probably null Het
Pla2g4e C T 2: 120,075,162 (GRCm39) probably benign Het
Plce1 A T 19: 38,766,383 (GRCm39) H2136L probably damaging Het
Plec A G 15: 76,061,084 (GRCm39) L2973P probably damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pramel32 T A 4: 88,552,376 (GRCm39) I2F probably benign Het
R3hdm1 C T 1: 128,159,174 (GRCm39) Q950* probably null Het
Rxra C T 2: 27,649,582 (GRCm39) A429V probably damaging Het
Scnn1a G A 6: 125,299,207 (GRCm39) G96S probably damaging Het
Senp5 T A 16: 31,808,163 (GRCm39) T337S possibly damaging Het
Smg9 A G 7: 24,114,468 (GRCm39) D269G probably damaging Het
Srsf11 C T 3: 157,717,704 (GRCm39) probably benign Het
Tmtc1 C T 6: 148,256,716 (GRCm39) probably benign Het
Vmn2r19 T C 6: 123,312,931 (GRCm39) V667A probably damaging Het
Other mutations in Or6c8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Or6c8 APN 10 128,915,224 (GRCm39) missense probably benign 0.13
IGL01945:Or6c8 APN 10 128,915,172 (GRCm39) missense probably damaging 1.00
IGL02341:Or6c8 APN 10 128,915,330 (GRCm39) nonsense probably null
IGL02389:Or6c8 APN 10 128,915,099 (GRCm39) missense probably damaging 0.97
IGL02516:Or6c8 APN 10 128,915,662 (GRCm39) missense possibly damaging 0.95
IGL02755:Or6c8 APN 10 128,915,065 (GRCm39) missense probably benign 0.00
R0145:Or6c8 UTSW 10 128,915,232 (GRCm39) missense probably damaging 0.97
R0453:Or6c8 UTSW 10 128,915,640 (GRCm39) missense probably damaging 0.97
R1034:Or6c8 UTSW 10 128,915,830 (GRCm39) start codon destroyed probably benign 0.43
R1494:Or6c8 UTSW 10 128,915,484 (GRCm39) missense probably damaging 1.00
R1941:Or6c8 UTSW 10 128,915,823 (GRCm39) missense probably damaging 0.99
R3707:Or6c8 UTSW 10 128,915,254 (GRCm39) missense probably benign 0.31
R5405:Or6c8 UTSW 10 128,915,265 (GRCm39) missense probably damaging 0.99
R5716:Or6c8 UTSW 10 128,915,424 (GRCm39) missense probably benign 0.00
R8224:Or6c8 UTSW 10 128,915,304 (GRCm39) missense possibly damaging 0.90
R9680:Or6c8 UTSW 10 128,915,358 (GRCm39) missense probably benign 0.02
Z1177:Or6c8 UTSW 10 128,915,921 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- GAGCTTGGCACACAGTAGGAACTC -3'
(R):5'- TCAGCAGAACTTCTGTGCATCCAAC -3'

Sequencing Primer
(F):5'- CACACAGTAGGAACTCATTCATTAAG -3'
(R):5'- TAGAACTCTCCTGTTCTGACACAAG -3'
Posted On 2013-07-11