Incidental Mutation 'R6380:Or6c33'
ID 515278
Institutional Source Beutler Lab
Gene Symbol Or6c33
Ensembl Gene ENSMUSG00000048745
Gene Name olfactory receptor family 6 subfamily C member 33
Synonyms GA_x6K02T2PULF-11688441-11689379, Olfr820, MOR116-1
MMRRC Submission 044529-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6380 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 129853232-129854170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129853782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 184 (H184L)
Ref Sequence ENSEMBL: ENSMUSP00000150332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059244] [ENSMUST00000214917] [ENSMUST00000215791]
AlphaFold Q8VFU5
Predicted Effect probably benign
Transcript: ENSMUST00000059244
AA Change: H184L

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000052995
Gene: ENSMUSG00000048745
AA Change: H184L

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1e-47 PFAM
Pfam:7tm_1 39 288 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214917
AA Change: H184L

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000215791
AA Change: H184L

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.5%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik G A 6: 91,900,118 (GRCm39) G424D probably damaging Het
Aco1 T C 4: 40,185,028 (GRCm39) V566A probably benign Het
Adat1 G T 8: 112,704,704 (GRCm39) T414K probably benign Het
Alox12e A G 11: 70,211,927 (GRCm39) V194A probably benign Het
Anpep A G 7: 79,491,644 (GRCm39) V119A probably benign Het
Atat1 C A 17: 36,219,849 (GRCm39) probably null Het
Atp10a G A 7: 58,469,432 (GRCm39) W1094* probably null Het
Bcl11b T C 12: 107,969,360 (GRCm39) R15G probably benign Het
Bltp1 A G 3: 37,087,456 (GRCm39) D4019G probably benign Het
Btnl1 A G 17: 34,598,468 (GRCm39) E28G probably benign Het
Ccnd1 A G 7: 144,493,306 (GRCm39) V42A probably benign Het
Cdyl2 T A 8: 117,309,923 (GRCm39) K344N probably damaging Het
Cep68 A G 11: 20,180,498 (GRCm39) M711T probably benign Het
Cyp2j7 A G 4: 96,118,211 (GRCm39) probably null Het
Cyp3a25 A T 5: 145,935,357 (GRCm39) D86E probably damaging Het
Dclk1 G T 3: 55,154,615 (GRCm39) R15L probably damaging Het
Dpy19l1 T A 9: 24,393,341 (GRCm39) K143* probably null Het
Duox2 A G 2: 122,111,483 (GRCm39) V1405A probably benign Het
Filip1 T C 9: 79,726,906 (GRCm39) E571G probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Jph1 T C 1: 17,162,071 (GRCm39) N197S probably damaging Het
Kcnt2 T C 1: 140,437,322 (GRCm39) L535S probably damaging Het
Lepr C A 4: 101,622,151 (GRCm39) S361* probably null Het
Lfng T A 5: 140,600,151 (GRCm39) probably null Het
Lpcat2 G A 8: 93,613,209 (GRCm39) A250T probably benign Het
Mab21l4 G A 1: 93,088,613 (GRCm39) probably null Het
Map3k4 A T 17: 12,490,954 (GRCm39) M159K possibly damaging Het
Notch3 A T 17: 32,363,533 (GRCm39) C1177S probably damaging Het
Olfml2b C T 1: 170,496,800 (GRCm39) P477L probably benign Het
Or51a5 A T 7: 102,771,136 (GRCm39) F281Y probably benign Het
Or5k16 T A 16: 58,736,627 (GRCm39) I126L probably damaging Het
Pald1 G T 10: 61,186,714 (GRCm39) F146L possibly damaging Het
Pcdhga1 A G 18: 37,796,022 (GRCm39) D342G probably damaging Het
Plcb2 T C 2: 118,545,949 (GRCm39) S579G probably damaging Het
Prdm16 A T 4: 154,425,824 (GRCm39) S654T probably benign Het
Rab3gap2 C A 1: 184,968,181 (GRCm39) L178I probably damaging Het
Rbfox1 C T 16: 7,042,214 (GRCm39) Q23* probably null Het
Slc14a2 T G 18: 78,190,190 (GRCm39) T920P probably benign Het
Slc17a6 G A 7: 51,317,211 (GRCm39) V411M probably benign Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Syce1 A T 7: 140,358,978 (GRCm39) H178Q probably damaging Het
Syne2 T A 12: 76,151,754 (GRCm39) F1872I probably damaging Het
Tor1aip1 T C 1: 155,894,234 (GRCm39) E274G possibly damaging Het
Trpm1 A T 7: 63,918,045 (GRCm39) T462S probably benign Het
Ugt3a1 C T 15: 9,306,541 (GRCm39) A230V probably benign Het
Vmn1r178 A G 7: 23,592,984 (GRCm39) T11A possibly damaging Het
Vmn2r69 A T 7: 85,061,067 (GRCm39) N172K probably benign Het
Whrn G T 4: 63,336,829 (GRCm39) P136T possibly damaging Het
Zfhx4 A G 3: 5,478,170 (GRCm39) N3570S probably damaging Het
Zfp689 A G 7: 127,043,968 (GRCm39) S221P probably damaging Het
Other mutations in Or6c33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Or6c33 APN 10 129,853,710 (GRCm39) missense probably damaging 0.98
IGL01938:Or6c33 APN 10 129,853,981 (GRCm39) nonsense probably null
IGL02369:Or6c33 APN 10 129,853,425 (GRCm39) missense possibly damaging 0.81
R0378:Or6c33 UTSW 10 129,853,872 (GRCm39) missense probably damaging 1.00
R0437:Or6c33 UTSW 10 129,853,965 (GRCm39) missense probably damaging 1.00
R0648:Or6c33 UTSW 10 129,853,350 (GRCm39) missense probably damaging 1.00
R1891:Or6c33 UTSW 10 129,853,439 (GRCm39) missense probably damaging 1.00
R2187:Or6c33 UTSW 10 129,853,557 (GRCm39) missense probably damaging 1.00
R4190:Or6c33 UTSW 10 129,853,847 (GRCm39) missense probably damaging 0.96
R4730:Or6c33 UTSW 10 129,853,416 (GRCm39) missense probably damaging 1.00
R6496:Or6c33 UTSW 10 129,853,448 (GRCm39) missense probably benign 0.13
R7198:Or6c33 UTSW 10 129,853,760 (GRCm39) missense probably damaging 1.00
R7667:Or6c33 UTSW 10 129,853,403 (GRCm39) missense probably damaging 1.00
R7762:Or6c33 UTSW 10 129,853,050 (GRCm39) intron probably benign
R7823:Or6c33 UTSW 10 129,854,136 (GRCm39) missense probably benign 0.00
R8472:Or6c33 UTSW 10 129,853,445 (GRCm39) missense probably damaging 1.00
R8931:Or6c33 UTSW 10 129,853,769 (GRCm39) missense possibly damaging 0.81
R9536:Or6c33 UTSW 10 129,853,345 (GRCm39) missense probably benign 0.01
R9563:Or6c33 UTSW 10 129,853,287 (GRCm39) missense probably benign
R9564:Or6c33 UTSW 10 129,853,287 (GRCm39) missense probably benign
R9565:Or6c33 UTSW 10 129,853,287 (GRCm39) missense probably benign
R9624:Or6c33 UTSW 10 129,853,866 (GRCm39) missense possibly damaging 0.94
R9630:Or6c33 UTSW 10 129,853,410 (GRCm39) missense probably damaging 1.00
R9652:Or6c33 UTSW 10 129,853,809 (GRCm39) missense possibly damaging 0.95
Z1177:Or6c33 UTSW 10 129,853,854 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCGCTATGTTGCCATTTGC -3'
(R):5'- CTTCCATAAGAGAGTGAGACCAC -3'

Sequencing Primer
(F):5'- GCCATTTGCAGACCCCTG -3'
(R):5'- ACCACTATCATGTGAGAGGAAC -3'
Posted On 2018-05-04