Incidental Mutation 'R5531:Or6c8b'
ID 433706
Institutional Source Beutler Lab
Gene Symbol Or6c8b
Ensembl Gene ENSMUSG00000056853
Gene Name olfactory receptor family 6 subfamily C member 8B
Synonyms Olfr765, MOR115-4, GA_x6K02T2PULF-10732607-10731678
MMRRC Submission 043089-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5531 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128882001-128882930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 128882433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 166 (F166L)
Ref Sequence ENSEMBL: ENSMUSP00000150725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071559] [ENSMUST00000216460]
AlphaFold Q7TRI6
Predicted Effect probably damaging
Transcript: ENSMUST00000071559
AA Change: F166L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071490
Gene: ENSMUSG00000056853
AA Change: F166L

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.4e-49 PFAM
Pfam:7tm_1 39 288 7.8e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216460
AA Change: F166L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.5%
  • 10x: 95.6%
  • 20x: 92.2%
Validation Efficiency 97% (64/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,342,767 (GRCm39) F878L possibly damaging Het
Acr T A 15: 89,458,146 (GRCm39) Y276N probably damaging Het
AI987944 A T 7: 41,023,814 (GRCm39) Y388* probably null Het
Ankrd29 G A 18: 12,412,835 (GRCm39) T114I probably damaging Het
Ap5z1 T C 5: 142,453,536 (GRCm39) M168T probably benign Het
Bard1 A C 1: 71,085,880 (GRCm39) C608W probably damaging Het
Brd10 A G 19: 29,731,072 (GRCm39) S647P possibly damaging Het
Clspn A G 4: 126,471,566 (GRCm39) R907G probably benign Het
Cubn C T 2: 13,355,743 (GRCm39) V1830I probably benign Het
Cwc22 T C 2: 77,754,913 (GRCm39) N221S probably damaging Het
Dact3 A G 7: 16,609,540 (GRCm39) E64G possibly damaging Het
Dhx40 T C 11: 86,680,330 (GRCm39) E381G possibly damaging Het
Dnah7a A G 1: 53,458,907 (GRCm39) S3744P possibly damaging Het
Epha4 A G 1: 77,351,513 (GRCm39) V914A probably benign Het
Fbxw10 G A 11: 62,753,482 (GRCm39) C492Y probably damaging Het
G930045G22Rik C A 6: 50,824,756 (GRCm39) noncoding transcript Het
Gm21103 A T 14: 17,484,855 (GRCm39) I63K probably damaging Het
Gpr156 T C 16: 37,825,619 (GRCm39) V612A probably benign Het
Gucy2g A G 19: 55,229,572 (GRCm39) S33P probably benign Het
Hibch A G 1: 52,884,228 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,619,539 (GRCm39) C1192S probably damaging Het
Hsd11b1 CGG CG 1: 192,922,557 (GRCm39) probably null Het
Ifi214 A G 1: 173,352,686 (GRCm39) Y248H probably damaging Het
Igf2bp2 T G 16: 21,907,835 (GRCm39) I89L probably damaging Het
Il2ra A T 2: 11,681,703 (GRCm39) T103S possibly damaging Het
Ino80 T A 2: 119,276,056 (GRCm39) M407L probably benign Het
Jade1 A C 3: 41,567,946 (GRCm39) K671N probably benign Het
Lca5 C T 9: 83,280,648 (GRCm39) S384N probably benign Het
Lce1l G T 3: 92,757,804 (GRCm39) P18H unknown Het
Lrrc8d T C 5: 105,945,536 (GRCm39) probably benign Het
Ly75 T C 2: 60,195,489 (GRCm39) N223S probably damaging Het
Mcm3 A T 1: 20,873,768 (GRCm39) F784Y possibly damaging Het
Ncf4 T G 15: 78,144,988 (GRCm39) probably benign Het
Ncoa1 T A 12: 4,303,746 (GRCm39) M1362L probably benign Het
Or1e16 T C 11: 73,286,003 (GRCm39) T282A probably benign Het
Or5p5 A G 7: 107,414,451 (GRCm39) Y220C probably benign Het
Prkg2 T C 5: 99,115,593 (GRCm39) R543G probably damaging Het
Ptprd A C 4: 75,977,904 (GRCm39) probably null Het
Scap A G 9: 110,210,497 (GRCm39) S969G possibly damaging Het
Sgk2 T C 2: 162,836,624 (GRCm39) F60S probably benign Het
Sgpp1 G T 12: 75,781,981 (GRCm39) Y119* probably null Het
Siglech A T 7: 55,418,413 (GRCm39) K31* probably null Het
Slc40a1 A G 1: 45,951,498 (GRCm39) Y220H probably damaging Het
Smurf2 G A 11: 106,743,389 (GRCm39) T219M possibly damaging Het
Speer4f2 A G 5: 17,581,526 (GRCm39) K156R possibly damaging Het
Spp1 T G 5: 104,588,424 (GRCm39) D276E probably benign Het
Stk32b T C 5: 37,617,078 (GRCm39) probably null Het
Stxbp5 G A 10: 9,638,668 (GRCm39) Q1044* probably null Het
Sv2c T A 13: 96,097,886 (GRCm39) T696S probably damaging Het
Tubgcp2 A C 7: 139,584,937 (GRCm39) probably null Het
Ubap1l C T 9: 65,278,973 (GRCm39) P91S probably damaging Het
Vmn2r76 A T 7: 85,874,657 (GRCm39) D773E probably damaging Het
Xirp2 C G 2: 67,345,646 (GRCm39) S2629C probably benign Het
Zbtb20 C A 16: 43,431,230 (GRCm39) C580* probably null Het
Zfp957 T A 14: 79,450,622 (GRCm39) Q392H unknown Het
Zfyve19 C T 2: 119,042,427 (GRCm39) T178M probably damaging Het
Zswim6 T C 13: 107,906,128 (GRCm39) noncoding transcript Het
Other mutations in Or6c8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Or6c8b APN 10 128,882,380 (GRCm39) missense probably benign 0.06
IGL01697:Or6c8b APN 10 128,882,371 (GRCm39) missense probably damaging 1.00
R0313:Or6c8b UTSW 10 128,882,695 (GRCm39) missense possibly damaging 0.61
R0346:Or6c8b UTSW 10 128,882,342 (GRCm39) missense possibly damaging 0.90
R1114:Or6c8b UTSW 10 128,882,711 (GRCm39) missense possibly damaging 0.95
R1157:Or6c8b UTSW 10 128,882,027 (GRCm39) missense probably benign 0.35
R2351:Or6c8b UTSW 10 128,882,797 (GRCm39) missense probably benign
R5119:Or6c8b UTSW 10 128,882,711 (GRCm39) missense possibly damaging 0.95
R5540:Or6c8b UTSW 10 128,882,364 (GRCm39) missense probably damaging 0.96
R5756:Or6c8b UTSW 10 128,882,095 (GRCm39) missense probably benign 0.04
R6011:Or6c8b UTSW 10 128,882,508 (GRCm39) missense probably benign
R7021:Or6c8b UTSW 10 128,882,899 (GRCm39) missense probably damaging 0.99
R7257:Or6c8b UTSW 10 128,882,324 (GRCm39) missense probably benign 0.13
R7330:Or6c8b UTSW 10 128,882,333 (GRCm39) missense probably damaging 0.97
R9235:Or6c8b UTSW 10 128,882,051 (GRCm39) missense probably benign 0.04
R9335:Or6c8b UTSW 10 128,882,614 (GRCm39) missense probably damaging 1.00
R9594:Or6c8b UTSW 10 128,882,354 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- AAAAGCCTTTGTCCTTTGTTGG -3'
(R):5'- GCCATCTTTCTTGGAGCAACAG -3'

Sequencing Primer
(F):5'- CTGAAGGGAGCTTGAGAATTGTC -3'
(R):5'- GAGCAACAGAGTTTTATCTCCTGGC -3'
Posted On 2016-10-06