Incidental Mutation 'R5794:Or6c3'
ID 447127
Institutional Source Beutler Lab
Gene Symbol Or6c3
Ensembl Gene ENSMUSG00000049217
Gene Name olfactory receptor family 6 subfamily C member 3
Synonyms GA_x6K02T2PULF-11151514-11152449, Olfr788, MOR111-4
MMRRC Submission 043385-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R5794 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 129308563-129309498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 129309295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 245 (I245L)
Ref Sequence ENSEMBL: ENSMUSP00000151054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056961] [ENSMUST00000213222]
AlphaFold Q8VFI0
Predicted Effect possibly damaging
Transcript: ENSMUST00000056961
AA Change: I245L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054710
Gene: ENSMUSG00000049217
AA Change: I245L

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 1.8e-49 PFAM
Pfam:7tm_1 38 287 1.2e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213222
AA Change: I245L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,676,955 (GRCm39) probably null Het
Ank2 T C 3: 126,723,669 (GRCm39) N923S probably benign Het
Ano6 A T 15: 95,792,405 (GRCm39) T76S probably benign Het
Carmil1 G T 13: 24,276,533 (GRCm39) N204K probably damaging Het
Cep126 T G 9: 8,103,440 (GRCm39) N190T possibly damaging Het
Clasrp A T 7: 19,325,034 (GRCm39) D198E probably damaging Het
Cma1 T C 14: 56,181,977 (GRCm39) T18A probably benign Het
Ece1 A G 4: 137,683,844 (GRCm39) I565M probably damaging Het
Etl4 T A 2: 20,811,323 (GRCm39) F1135L probably damaging Het
Fbxw20 T C 9: 109,052,358 (GRCm39) N325S probably damaging Het
Fbxw20 A T 9: 109,062,668 (GRCm39) C53S possibly damaging Het
Gnb2 T C 5: 137,526,961 (GRCm39) D203G probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hoxd9 T A 2: 74,529,617 (GRCm39) F291Y probably damaging Het
Igf2r T C 17: 12,928,332 (GRCm39) S1004G probably benign Het
Irgm1 T C 11: 48,757,064 (GRCm39) Y249C probably damaging Het
Kcnh3 A C 15: 99,130,855 (GRCm39) I491L probably benign Het
Kctd10 G A 5: 114,505,398 (GRCm39) R199W probably damaging Het
Klk1b4 A T 7: 43,859,069 (GRCm39) N29I probably damaging Het
Klrc1 C T 6: 129,652,317 (GRCm39) R188Q probably damaging Het
Krt32 C A 11: 99,975,812 (GRCm39) C275F probably damaging Het
Krt73 T A 15: 101,703,264 (GRCm39) T449S probably benign Het
Napepld T A 5: 21,888,429 (GRCm39) S7C possibly damaging Het
Nfia G T 4: 97,671,838 (GRCm39) V183L possibly damaging Het
Or5g27 T C 2: 85,409,685 (GRCm39) V34A probably benign Het
Psma3 A G 12: 71,037,271 (GRCm39) T111A probably benign Het
Psmd11 T A 11: 80,362,318 (GRCm39) D125E probably benign Het
Rabgap1 T A 2: 37,392,914 (GRCm39) D523E probably benign Het
Rttn G T 18: 89,013,693 (GRCm39) R454L probably benign Het
Serpine2 T C 1: 79,799,156 (GRCm39) N33D probably benign Het
Six4 A T 12: 73,159,124 (GRCm39) S271T possibly damaging Het
Smoc2 T A 17: 14,589,310 (GRCm39) C260S possibly damaging Het
Snai2 A T 16: 14,524,590 (GRCm39) Y32F probably benign Het
Tapt1 C T 5: 44,334,476 (GRCm39) G505D probably benign Het
Thap12 T A 7: 98,365,600 (GRCm39) D589E probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r116 T C 17: 23,604,942 (GRCm39) I85T probably damaging Het
Zfp592 G T 7: 80,674,781 (GRCm39) V582L probably benign Het
Zfp827 T C 8: 79,797,071 (GRCm39) W386R probably damaging Het
Other mutations in Or6c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Or6c3 APN 10 129,309,080 (GRCm39) missense probably damaging 1.00
IGL02393:Or6c3 APN 10 129,309,064 (GRCm39) missense probably damaging 1.00
IGL03010:Or6c3 APN 10 129,308,843 (GRCm39) missense probably damaging 1.00
IGL03325:Or6c3 APN 10 129,309,474 (GRCm39) missense probably benign 0.02
R1298:Or6c3 UTSW 10 129,308,933 (GRCm39) missense probably damaging 1.00
R2215:Or6c3 UTSW 10 129,309,289 (GRCm39) missense probably damaging 0.99
R5482:Or6c3 UTSW 10 129,308,947 (GRCm39) missense probably benign 0.31
R5699:Or6c3 UTSW 10 129,308,746 (GRCm39) missense probably damaging 1.00
R6436:Or6c3 UTSW 10 129,308,773 (GRCm39) missense probably damaging 0.98
R6480:Or6c3 UTSW 10 129,308,590 (GRCm39) missense possibly damaging 0.62
R6884:Or6c3 UTSW 10 129,309,023 (GRCm39) missense probably damaging 1.00
R7908:Or6c3 UTSW 10 129,308,867 (GRCm39) missense probably damaging 1.00
R8056:Or6c3 UTSW 10 129,309,061 (GRCm39) missense probably benign 0.07
R8207:Or6c3 UTSW 10 129,308,953 (GRCm39) missense probably benign 0.09
R8777:Or6c3 UTSW 10 129,309,374 (GRCm39) missense possibly damaging 0.93
R8777-TAIL:Or6c3 UTSW 10 129,309,374 (GRCm39) missense possibly damaging 0.93
R8998:Or6c3 UTSW 10 129,309,386 (GRCm39) missense probably benign 0.36
R8999:Or6c3 UTSW 10 129,309,386 (GRCm39) missense probably benign 0.36
R9154:Or6c3 UTSW 10 129,308,690 (GRCm39) missense probably benign 0.20
Z1176:Or6c3 UTSW 10 129,309,484 (GRCm39) missense probably benign 0.04
Z1177:Or6c3 UTSW 10 129,308,933 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACTCTGCACCTTGTTTGTG -3'
(R):5'- CTGCACCTTTGAATGCTTGC -3'

Sequencing Primer
(F):5'- CAACTGTCTTGCTCAGATACATTG -3'
(R):5'- GCACCTTTGAATGCTTGCTTTAC -3'
Posted On 2016-12-15