Incidental Mutation 'R1193:Or6z3'
ID 100939
Institutional Source Beutler Lab
Gene Symbol Or6z3
Ensembl Gene ENSMUSG00000048620
Gene Name olfactory receptor family 6 subfamily Z member 3
Synonyms MOR103-7, Olfr1336, GA_x6K02T2QGBW-3190370-3191314
MMRRC Submission 039265-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R1193 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 6463225-6464454 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6463715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 69 (N69S)
Ref Sequence ENSEMBL: ENSMUSP00000150162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056120] [ENSMUST00000214301]
AlphaFold Q8VGH5
Predicted Effect probably benign
Transcript: ENSMUST00000056120
AA Change: N69S

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000056956
Gene: ENSMUSG00000048620
AA Change: N69S

DomainStartEndE-ValueType
Pfam:7tm_4 35 311 3.2e-52 PFAM
Pfam:7tm_1 45 294 2.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214301
AA Change: N69S

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 86.3%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A G 3: 32,766,293 (GRCm39) D49G probably benign Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Gpm6a A T 8: 55,500,268 (GRCm39) probably null Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt5 G A 2: 5,868,411 (GRCm39) S103N probably benign Het
Or5an9 A T 19: 12,187,803 (GRCm39) Y291F probably damaging Het
Pds5a G T 5: 65,795,145 (GRCm39) A697E probably damaging Het
Pik3ca A G 3: 32,510,242 (GRCm39) D806G probably damaging Het
Rars1 C T 11: 35,700,153 (GRCm39) A548T possibly damaging Het
Rfk C T 19: 17,372,685 (GRCm39) P69L probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sp4 C T 12: 118,262,981 (GRCm39) R355H possibly damaging Het
Tcaim T C 9: 122,647,895 (GRCm39) Y137H probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tmem150c T C 5: 100,231,451 (GRCm39) T175A probably damaging Het
Twnk A G 19: 44,996,229 (GRCm39) K221E probably damaging Het
Vmn2r67 T C 7: 84,800,653 (GRCm39) K428E probably damaging Het
Vmn2r82 T A 10: 79,213,739 (GRCm39) Y108* probably null Het
Wwox G A 8: 115,406,614 (GRCm39) V202M probably benign Het
Other mutations in Or6z3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01889:Or6z3 APN 7 6,463,502 (GRCm39) splice site probably benign
IGL02730:Or6z3 APN 7 6,464,123 (GRCm39) missense possibly damaging 0.75
R1582:Or6z3 UTSW 7 6,463,813 (GRCm39) missense probably benign 0.02
R1616:Or6z3 UTSW 7 6,463,744 (GRCm39) missense probably damaging 1.00
R1954:Or6z3 UTSW 7 6,464,144 (GRCm39) missense probably benign 0.11
R2889:Or6z3 UTSW 7 6,463,940 (GRCm39) missense probably damaging 1.00
R4881:Or6z3 UTSW 7 6,463,753 (GRCm39) missense probably benign 0.01
R4958:Or6z3 UTSW 7 6,464,057 (GRCm39) missense probably damaging 1.00
R5849:Or6z3 UTSW 7 6,463,993 (GRCm39) missense possibly damaging 0.46
R6253:Or6z3 UTSW 7 6,463,547 (GRCm39) missense probably benign 0.09
R7289:Or6z3 UTSW 7 6,463,777 (GRCm39) missense probably benign 0.00
R8810:Or6z3 UTSW 7 6,463,763 (GRCm39) missense probably damaging 1.00
Z1177:Or6z3 UTSW 7 6,464,226 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- TGACCAGAGTCCAGGAGTTTGTCC -3'
(R):5'- TTTGATCACTGAGACCAGCAGCC -3'

Sequencing Primer
(F):5'- CTATTGGGCTTGTCCACAAGG -3'
(R):5'- GGCCACATAGCGGTCATAAG -3'
Posted On 2014-01-15