Incidental Mutation 'R7839:Or6c76b'
ID 606174
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 045893-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R7839 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 129692389-129693321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129692899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 171 (I171F)
Ref Sequence ENSEMBL: ENSMUSP00000145260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064893] [ENSMUST00000204622]
AlphaFold Q7TRH5
Predicted Effect possibly damaging
Transcript: ENSMUST00000064893
AA Change: I171F

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000063431
Gene: ENSMUSG00000052818
AA Change: I171F

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.2e-49 PFAM
Pfam:7tm_1 39 288 3.9e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204622
AA Change: I171F

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: I171F

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 3.5e-49 PFAM
Pfam:7tm_1 54 303 1.3e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (51/51)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,025,085 (GRCm39) M986K probably benign Het
Adcyap1 A G 17: 93,511,413 (GRCm39) K129R probably benign Het
Anapc1 T C 2: 128,526,528 (GRCm39) D90G probably damaging Het
Ankrd17 G A 5: 90,411,213 (GRCm39) H1361Y probably damaging Het
Aqp4 T A 18: 15,532,737 (GRCm39) I119F possibly damaging Het
Bfsp1 T A 2: 143,673,770 (GRCm39) I313F possibly damaging Het
Cxcl9 A G 5: 92,475,869 (GRCm39) V5A probably benign Het
Cyfip1 G A 7: 55,536,483 (GRCm39) V304M probably damaging Het
Cyp2d22 A G 15: 82,256,772 (GRCm39) V334A probably damaging Het
Cyp2j12 A G 4: 95,987,893 (GRCm39) V499A possibly damaging Het
Cyth3 A G 5: 143,683,509 (GRCm39) E136G probably benign Het
Degs2 CTTAGTGAAT CT 12: 108,658,460 (GRCm39) probably null Het
Dnah7a A G 1: 53,606,334 (GRCm39) S1229P probably benign Het
Dop1a T A 9: 86,424,818 (GRCm39) C2087* probably null Het
Dop1b A T 16: 93,560,829 (GRCm39) H889L probably damaging Het
Elf1 A G 14: 79,773,855 (GRCm39) E22G probably benign Het
Gbgt1 T C 2: 28,393,182 (GRCm39) V90A probably damaging Het
Glis3 T C 19: 28,294,773 (GRCm39) D675G possibly damaging Het
Glt8d1 G T 14: 30,723,788 (GRCm39) probably benign Het
Gzf1 T A 2: 148,525,815 (GRCm39) Y95* probably null Het
Insig2 T C 1: 121,240,049 (GRCm39) I84V probably benign Het
Mapkapk2 A G 1: 131,025,256 (GRCm39) S3P unknown Het
Nell2 T C 15: 95,196,819 (GRCm39) N499S probably benign Het
Nlrp9b G A 7: 19,758,398 (GRCm39) R545H possibly damaging Het
Obox7 T A 7: 14,399,350 (GRCm39) I192N probably benign Het
Or10ad1 T C 15: 98,106,026 (GRCm39) I80V probably damaging Het
Plec A T 15: 76,060,583 (GRCm39) V3118E probably damaging Het
Plk3 T C 4: 116,986,527 (GRCm39) T571A probably damaging Het
Ppa2 T C 3: 133,082,351 (GRCm39) probably null Het
Rabl6 A T 2: 25,482,829 (GRCm39) H183Q probably damaging Het
Rad51ap2 T A 12: 11,507,238 (GRCm39) S387T possibly damaging Het
Rbm33 A G 5: 28,573,397 (GRCm39) probably null Het
Robo4 T C 9: 37,322,055 (GRCm39) S724P probably damaging Het
Rtf2 T C 2: 172,308,253 (GRCm39) probably null Het
Sft2d1rt T C 11: 45,942,887 (GRCm39) T79A possibly damaging Het
Slc45a2 A T 15: 11,027,835 (GRCm39) Q468L probably benign Het
Slc6a15 A G 10: 103,240,660 (GRCm39) I428V probably benign Het
Sp140l2 C T 1: 85,224,736 (GRCm39) M266I probably benign Het
Taar7f C A 10: 23,925,967 (GRCm39) A187E possibly damaging Het
Tmt1a T C 15: 100,202,957 (GRCm39) V77A possibly damaging Het
Tob1 T A 11: 94,104,598 (GRCm39) Y45N probably damaging Het
Trappc10 A G 10: 78,024,646 (GRCm39) V1161A possibly damaging Het
Trbv13-2 T C 6: 41,098,521 (GRCm39) V32A probably benign Het
Trpm8 T A 1: 88,254,176 (GRCm39) L133Q possibly damaging Het
Ttn T C 2: 76,538,512 (GRCm39) T34729A probably benign Het
Uba6 G T 5: 86,270,271 (GRCm39) probably null Het
Unc13c T C 9: 73,840,596 (GRCm39) D85G possibly damaging Het
Vmn1r176 T C 7: 23,534,394 (GRCm39) D253G possibly damaging Het
Vmn2r34 T A 7: 7,687,173 (GRCm39) I175F possibly damaging Het
Vmn2r61 T A 7: 41,916,032 (GRCm39) I215N probably damaging Het
Vwa5a C A 9: 38,634,799 (GRCm39) S202R probably damaging Het
Zfp383 G A 7: 29,614,483 (GRCm39) C246Y probably damaging Het
Zfp40 T C 17: 23,395,963 (GRCm39) D208G probably damaging Het
Zfp992 C A 4: 146,550,875 (GRCm39) L199I probably benign 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
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
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'- GCATCCATGTCCTATGATCGC -3'
(R):5'- TGAAGATGCAGCTTCCATAGG -3'

Sequencing Primer
(F):5'- CGCTATGTGGCTATTTGCAAGCC -3'
(R):5'- AGATGCAGCTTCCATAGGATATG -3'
Posted On 2019-12-20