Incidental Mutation 'R1345:Or6c76b'
ID 156468
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 039410-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R1345 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 129692389-129693321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129692759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 124 (I124T)
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: I124T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000063431
Gene: ENSMUSG00000052818
AA Change: I124T

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: I124T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: I124T

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 3.5e-49 PFAM
Pfam:7tm_1 54 303 1.3e-21 PFAM
Meta Mutation Damage Score 0.1645 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 92.3%
Validation Efficiency 100% (45/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,635,152 (GRCm39) V129I probably damaging Het
Akr1c18 T C 13: 4,195,213 (GRCm39) T82A possibly damaging Het
Alx1 A G 10: 102,864,353 (GRCm39) S39P possibly damaging Het
Atr A G 9: 95,802,408 (GRCm39) T1767A probably benign Het
Brf1 A T 12: 112,924,728 (GRCm39) probably null Het
Cd86 A G 16: 36,438,686 (GRCm39) probably null Het
Cdan1 A G 2: 120,549,620 (GRCm39) probably null Het
Cntln A G 4: 84,892,228 (GRCm39) D371G probably damaging Het
Cypt4 A G 9: 24,536,515 (GRCm39) T2A possibly damaging Het
Dll1 G T 17: 15,593,817 (GRCm39) Y183* probably null Het
Dnmt1 G T 9: 20,819,814 (GRCm39) P1444Q probably damaging Het
Ern2 A G 7: 121,776,993 (GRCm39) L309P probably damaging Het
Fam151a A G 4: 106,599,491 (GRCm39) K142E probably damaging Het
Fbn1 T C 2: 125,156,591 (GRCm39) E2378G probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kdm5b A C 1: 134,558,288 (GRCm39) T1432P possibly damaging Het
Kif2a G A 13: 107,130,423 (GRCm39) S15F probably damaging Het
Lzic A G 4: 149,571,308 (GRCm39) E31G probably damaging Het
Mmp16 A G 4: 18,112,021 (GRCm39) M466V probably benign Het
Mtm1 T C X: 70,330,837 (GRCm39) V203A probably benign Het
Muc21 T A 17: 35,932,489 (GRCm39) probably benign Het
Neurl4 A G 11: 69,794,702 (GRCm39) M249V probably benign Het
Plxna2 T C 1: 194,326,794 (GRCm39) Y243H probably damaging Het
Rbm44 A G 1: 91,080,481 (GRCm39) N223S probably damaging Het
Sel1l3 G T 5: 53,357,559 (GRCm39) H144Q possibly damaging Het
Simc1 A ANNNNNNNNNNNNNNNNNNNNN 13: 54,673,060 (GRCm39) probably benign Het
Snrpb2 A G 2: 142,907,086 (GRCm39) probably benign Het
Spata31d1d T G 13: 59,873,838 (GRCm39) K1232N possibly damaging Het
Spink5 A T 18: 44,123,749 (GRCm39) E345D possibly damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tarbp1 T C 8: 127,175,069 (GRCm39) D789G probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmem232 T C 17: 65,757,401 (GRCm39) N264S possibly damaging Het
Trim43b G C 9: 88,967,725 (GRCm39) L303V possibly damaging Het
Tulp2 C A 7: 45,168,145 (GRCm39) R298S probably benign Het
Usp42 A G 5: 143,703,088 (GRCm39) V511A probably damaging Het
Vav1 A T 17: 57,608,214 (GRCm39) T321S probably benign Het
Vmn1r169 A C 7: 23,277,247 (GRCm39) H213P probably damaging Het
Vmn1r170 C T 7: 23,305,787 (GRCm39) T63I probably benign Het
Vmn2r103 T G 17: 20,014,509 (GRCm39) W434G probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp7 T C 15: 76,774,908 (GRCm39) S317P 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
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
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'- ACTGCTGGATTCCCACCTGAAGAC -3'
(R):5'- AACAGAGGTGTTGAGCATAGCCAC -3'

Sequencing Primer
(F):5'- GAAGACACCCATGTATTTCTTCC -3'
(R):5'- CATGAAGATGCAGCTTCCATAG -3'
Posted On 2014-02-11