Incidental Mutation 'IGL02730:Or6z3'
ID 305399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6z3
Ensembl Gene ENSMUSG00000048620
Gene Name olfactory receptor family 6 subfamily Z member 3
Synonyms MOR103-7, Olfr1336, GA_x6K02T2QGBW-3190370-3191314
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02730
Quality Score
Status
Chromosome 7
Chromosomal Location 6463225-6464454 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6464123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 205 (I205T)
Ref Sequence ENSEMBL: ENSMUSP00000150162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056120] [ENSMUST00000214301]
AlphaFold Q8VGH5
Predicted Effect possibly damaging
Transcript: ENSMUST00000056120
AA Change: I205T

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000056956
Gene: ENSMUSG00000048620
AA Change: I205T

DomainStartEndE-ValueType
Pfam:7tm_4 35 311 3.2e-52 PFAM
Pfam:7tm_1 45 294 2.2e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214301
AA Change: I205T

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,304,210 (GRCm39) probably benign Het
Ankib1 A T 5: 3,752,995 (GRCm39) V651E probably damaging Het
BC051665 G A 13: 60,932,826 (GRCm39) probably benign Het
Ces1d C T 8: 93,912,644 (GRCm39) G265S probably benign Het
Dsg1c A C 18: 20,407,887 (GRCm39) D411A probably damaging Het
Exosc5 T C 7: 25,362,622 (GRCm39) I70T possibly damaging Het
Fgf20 T A 8: 40,732,828 (GRCm39) L203F probably damaging Het
Gpsm1 T A 2: 26,215,390 (GRCm39) V316E probably benign Het
Gtpbp1 T A 15: 79,603,372 (GRCm39) D620E probably benign Het
Hs6st1 A G 1: 36,142,709 (GRCm39) T215A probably damaging Het
Irgm2 T A 11: 58,110,816 (GRCm39) M169K probably benign Het
Kcns3 A G 12: 11,142,076 (GRCm39) S208P probably benign Het
Klra6 T C 6: 129,999,660 (GRCm39) T103A probably benign Het
Lrba T A 3: 86,235,506 (GRCm39) M870K probably damaging Het
Mapk1ip1l C T 14: 47,548,377 (GRCm39) T175I possibly damaging Het
Meig1 A G 2: 3,412,947 (GRCm39) Y25H probably damaging Het
Msh2 T C 17: 88,014,643 (GRCm39) F474L probably damaging Het
Nlrp4b T C 7: 10,448,685 (GRCm39) F296S probably damaging Het
Or10d1b C T 9: 39,613,534 (GRCm39) C177Y probably damaging Het
Or12d17 T A 17: 37,777,750 (GRCm39) Y218N probably damaging Het
Or14c40 T C 7: 86,313,275 (GRCm39) L135P probably damaging Het
Or2m12 T A 16: 19,105,432 (GRCm39) L20F probably benign Het
Or5al6 C T 2: 85,976,443 (GRCm39) V212M probably benign Het
Or5w15 T A 2: 87,567,985 (GRCm39) I228F probably damaging Het
Or8s8 A G 15: 98,354,317 (GRCm39) N42S probably damaging Het
Pds5b A G 5: 150,704,217 (GRCm39) probably benign Het
Plekhg1 A G 10: 3,823,242 (GRCm39) D70G possibly damaging Het
Rubcnl C T 14: 75,287,588 (GRCm39) T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 (GRCm39) H317Y probably benign Het
Sec22a T C 16: 35,134,470 (GRCm39) D282G probably damaging Het
Serpina3a T C 12: 104,085,922 (GRCm39) F126L probably damaging Het
Serpinc1 A G 1: 160,827,598 (GRCm39) D399G probably damaging Het
Sorcs2 A G 5: 36,219,896 (GRCm39) Y383H probably benign Het
Speer3 T A 5: 13,843,285 (GRCm39) M64K probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stx1b C A 7: 127,414,549 (GRCm39) R25L probably benign Het
Syt5 A G 7: 4,545,356 (GRCm39) V181A probably damaging Het
Tspoap1 G T 11: 87,672,535 (GRCm39) V1788F probably damaging Het
Vinac1 T C 2: 128,880,646 (GRCm39) T427A possibly damaging Het
Vmn1r233 A G 17: 21,214,057 (GRCm39) S298P possibly damaging Het
Xntrpc T C 7: 101,731,319 (GRCm39) S353P probably damaging Het
Other mutations in Or6z3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01889:Or6z3 APN 7 6,463,502 (GRCm39) splice site probably benign
R1193:Or6z3 UTSW 7 6,463,715 (GRCm39) missense probably benign 0.14
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
Posted On 2015-04-16