Incidental Mutation 'R5397:Or6c76b'
ID 429756
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 042968-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5397 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 129692389-129693321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129692579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 64 (F64S)
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: F64S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063431
Gene: ENSMUSG00000052818
AA Change: F64S

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: F64S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: F64S

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 3.5e-49 PFAM
Pfam:7tm_1 54 303 1.3e-21 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 T C 14: 8,243,803 (GRCm38) T518A probably benign Het
Acvr1b T A 15: 101,096,845 (GRCm39) V254D probably damaging Het
Adar T C 3: 89,642,626 (GRCm39) I169T probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arap1 A T 7: 101,034,119 (GRCm39) Q187L possibly damaging Het
Atad5 T A 11: 80,002,319 (GRCm39) M1037K probably damaging Het
Bsg T A 10: 79,544,629 (GRCm39) W56R probably damaging Het
C1qtnf3 A G 15: 10,978,627 (GRCm39) T276A probably damaging Het
Capn2 A G 1: 182,298,271 (GRCm39) C665R probably damaging Het
Cast A G 13: 74,869,056 (GRCm39) S248P possibly damaging Het
Cd68 C T 11: 69,556,484 (GRCm39) V108I probably benign Het
Cyp2d11 A T 15: 82,276,279 (GRCm39) W131R probably damaging Het
Dhx58 A G 11: 100,594,746 (GRCm39) V50A probably damaging Het
Fam124a A G 14: 62,843,838 (GRCm39) S449G probably benign Het
Flnc G A 6: 29,441,160 (GRCm39) M371I possibly damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gpr149 A G 3: 62,438,226 (GRCm39) S644P probably damaging Het
Gucy1b1 G A 3: 81,951,458 (GRCm39) T274I possibly damaging Het
Kcnq5 A G 1: 21,476,080 (GRCm39) V541A probably damaging Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Lig4 G T 8: 10,022,644 (GRCm39) R379S probably benign Het
Map7 G A 10: 20,149,067 (GRCm39) R514Q unknown Het
Mertk T A 2: 128,613,384 (GRCm39) F467I possibly damaging Het
Mettl4 A T 17: 95,034,705 (GRCm39) Y463* probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Nme8 T C 13: 19,878,549 (GRCm39) D70G probably damaging Het
Npat A G 9: 53,481,774 (GRCm39) N1161D probably damaging Het
Or4k77 T A 2: 111,199,285 (GRCm39) C103S probably benign Het
Or51ac3 T A 7: 103,213,713 (GRCm39) I258F probably damaging Het
Paxip1 A T 5: 27,977,002 (GRCm39) probably benign Het
Peg10 C CTCG 6: 4,756,453 (GRCm39) probably benign Het
Plxnc1 T C 10: 94,679,614 (GRCm39) T923A probably benign Het
Pms1 T A 1: 53,231,279 (GRCm39) K857* probably null Het
Ppp1r9b A G 11: 94,892,936 (GRCm39) E260G probably damaging Het
Prpf3 A T 3: 95,760,891 (GRCm39) S4T probably benign Het
Rdh14 T A 12: 10,444,869 (GRCm39) V240D probably damaging Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
S100a1 A T 3: 90,419,442 (GRCm39) M1K probably null Het
Slc2a5 G A 4: 150,224,280 (GRCm39) probably null Het
Slc5a5 T C 8: 71,343,823 (GRCm39) T160A probably damaging Het
Srcap T G 7: 127,152,468 (GRCm39) probably null Het
Tgm6 T A 2: 129,983,828 (GRCm39) M329K possibly damaging Het
Tom1l1 G A 11: 90,552,600 (GRCm39) A201V probably benign Het
Trgv5 A C 13: 19,376,728 (GRCm39) E42D possibly damaging Het
Ttc13 T C 8: 125,402,002 (GRCm39) T662A possibly damaging Het
Ttn T C 2: 76,555,599 (GRCm39) T30469A probably damaging Het
Ube3a T A 7: 58,936,660 (GRCm39) S645R probably benign Het
Vgll2 A G 10: 51,901,262 (GRCm39) E64G probably damaging Het
Vmn1r25 A T 6: 57,956,060 (GRCm39) C76* probably null Het
Vmn2r101 A G 17: 19,809,104 (GRCm39) N78D probably damaging Het
Zcchc10 CCAGCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAGCAG 11: 53,223,344 (GRCm39) probably benign Het
Zcchc7 C A 4: 44,926,048 (GRCm39) A28E probably 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
R5644:Or6c76b UTSW 10 129,693,296 (GRCm39) missense probably benign 0.38
R5925:Or6c76b UTSW 10 129,692,744 (GRCm39) missense probably damaging 1.00
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'- CTTGTAGACAAACCATCAGAGATG -3'
(R):5'- TGCAGAGGCTTGCAAATAGC -3'

Sequencing Primer
(F):5'- GGAACAGAACTTCAGTGACATACTTC -3'
(R):5'- TAGCCACATAGCGATCATAGGACATG -3'
Posted On 2016-09-06