Incidental Mutation 'R1596:Or6z5'
ID 175800
Institutional Source Beutler Lab
Gene Symbol Or6z5
Ensembl Gene ENSMUSG00000054938
Gene Name olfactory receptor family 6 subfamily Z member 5
Synonyms Olfr1346, GA_x6K02T2QGBW-3203957-3204898, MOR103-6
MMRRC Submission 039633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R1596 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 6477111-6478052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6477514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 135 (L135P)
Ref Sequence ENSEMBL: ENSMUSP00000150503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056144] [ENSMUST00000207658] [ENSMUST00000209866] [ENSMUST00000215302]
AlphaFold Q8VGH6
Predicted Effect probably damaging
Transcript: ENSMUST00000056144
AA Change: L135P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050553
Gene: ENSMUSG00000054938
AA Change: L135P

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 7.2e-44 PFAM
Pfam:7tm_1 45 295 5.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207658
AA Change: L135P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209866
Predicted Effect probably damaging
Transcript: ENSMUST00000215302
AA Change: L135P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8680 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 87.7%
Validation Efficiency 97% (70/72)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik A G 15: 37,426,018 (GRCm39) probably benign Het
Abca8a T A 11: 109,958,886 (GRCm39) Y745F possibly damaging Het
Abl1 A G 2: 31,680,350 (GRCm39) N316S probably damaging Het
Ackr2 T C 9: 121,738,278 (GRCm39) F218L probably damaging Het
Adam6b T A 12: 113,454,646 (GRCm39) Y488N probably damaging Het
Arhgap10 A G 8: 78,177,326 (GRCm39) I103T possibly damaging Het
Atm A G 9: 53,364,678 (GRCm39) V2669A probably damaging Het
Atp10b A G 11: 43,126,594 (GRCm39) K1117E probably damaging Het
Brinp3 T C 1: 146,390,520 (GRCm39) V22A probably benign Het
Casp8 G T 1: 58,870,833 (GRCm39) probably benign Het
Ccdc178 T A 18: 22,153,930 (GRCm39) K626N possibly damaging Het
Clcn6 T A 4: 148,107,836 (GRCm39) S193C probably damaging Het
Col11a1 C T 3: 113,946,262 (GRCm39) probably benign Het
Csn1s2b T A 5: 87,966,917 (GRCm39) probably benign Het
Cst5 T C 2: 149,247,329 (GRCm39) V15A unknown Het
Cttnbp2 A G 6: 18,408,591 (GRCm39) F1010S probably damaging Het
Dlg2 T C 7: 92,080,259 (GRCm39) V614A probably damaging Het
Dsg1c A G 18: 20,415,104 (GRCm39) Y667C probably damaging Het
Ep400 A T 5: 110,856,727 (GRCm39) probably benign Het
Fam83c C T 2: 155,672,982 (GRCm39) probably null Het
Fbxw20 C T 9: 109,050,368 (GRCm39) C419Y probably damaging Het
Fgd2 G A 17: 29,595,904 (GRCm39) V521I probably benign Het
Frrs1 A G 3: 116,676,848 (GRCm39) probably benign Het
Gli3 C A 13: 15,900,056 (GRCm39) Q1148K possibly damaging Het
Hdac5 G T 11: 102,095,482 (GRCm39) probably null Het
Ice1 C T 13: 70,753,014 (GRCm39) R1024H possibly damaging Het
Irak3 A T 10: 120,018,451 (GRCm39) I99N probably damaging Het
Klhl31 A G 9: 77,557,356 (GRCm39) D24G probably damaging Het
Lrba C T 3: 86,257,611 (GRCm39) Q1292* probably null Het
Map1a C T 2: 121,120,246 (GRCm39) A44V probably benign Het
Mbd2 T A 18: 70,749,703 (GRCm39) M306K probably damaging Het
Mrc1 C T 2: 14,253,701 (GRCm39) H241Y possibly damaging Het
Mrgprg A G 7: 143,318,431 (GRCm39) F227S possibly damaging Het
Ncapg2 T A 12: 116,382,856 (GRCm39) L229H probably damaging Het
Ncf4 G A 15: 78,134,637 (GRCm39) E30K probably damaging Het
Nlrp4c C A 7: 6,069,777 (GRCm39) D559E probably benign Het
Nxpe4 T A 9: 48,307,855 (GRCm39) W320R probably damaging Het
Or10a3n T A 7: 108,493,086 (GRCm39) H176L probably damaging Het
Or52n4b T A 7: 108,144,290 (GRCm39) M184K possibly damaging Het
Pdzrn3 A G 6: 101,127,966 (GRCm39) V900A probably benign Het
Prcp T C 7: 92,567,042 (GRCm39) probably benign Het
Prkaa2 A T 4: 104,893,526 (GRCm39) D474E probably damaging Het
Prl3a1 A G 13: 27,443,600 (GRCm39) probably benign Het
Ptpra T A 2: 130,386,872 (GRCm39) Y624N probably damaging Het
Ramp1 T C 1: 91,151,022 (GRCm39) V129A possibly damaging Het
Reep1 G T 6: 71,733,421 (GRCm39) probably null Het
Robo3 C T 9: 37,335,928 (GRCm39) probably null Het
Sapcd2 T A 2: 25,266,422 (GRCm39) I403N probably damaging Het
Sdk2 T A 11: 113,729,435 (GRCm39) probably benign Het
Serpinb3a T C 1: 106,974,904 (GRCm39) M210V probably benign Het
Slc45a3 T A 1: 131,909,267 (GRCm39) I488N probably damaging Het
Tnrc6c C T 11: 117,648,867 (GRCm39) P1513S probably damaging Het
Trank1 T A 9: 111,195,358 (GRCm39) H1127Q possibly damaging Het
Trim67 T C 8: 125,552,878 (GRCm39) V660A probably damaging Het
Ubash3b A G 9: 40,942,793 (GRCm39) I233T probably benign Het
Unkl A G 17: 25,424,707 (GRCm39) R245G probably null Het
Other mutations in Or6z5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0057:Or6z5 UTSW 7 6,477,679 (GRCm39) missense probably damaging 1.00
R0446:Or6z5 UTSW 7 6,478,024 (GRCm39) missense probably benign 0.00
R0531:Or6z5 UTSW 7 6,477,234 (GRCm39) missense possibly damaging 0.81
R0622:Or6z5 UTSW 7 6,477,598 (GRCm39) missense possibly damaging 0.46
R2233:Or6z5 UTSW 7 6,477,441 (GRCm39) missense possibly damaging 0.94
R2234:Or6z5 UTSW 7 6,477,441 (GRCm39) missense possibly damaging 0.94
R2235:Or6z5 UTSW 7 6,477,441 (GRCm39) missense possibly damaging 0.94
R4441:Or6z5 UTSW 7 6,477,924 (GRCm39) missense probably benign 0.01
R4888:Or6z5 UTSW 7 6,477,612 (GRCm39) missense probably damaging 0.97
R4890:Or6z5 UTSW 7 6,477,848 (GRCm39) nonsense probably null
R5696:Or6z5 UTSW 7 6,477,742 (GRCm39) splice site probably null
R6173:Or6z5 UTSW 7 6,477,835 (GRCm39) missense probably damaging 1.00
R6643:Or6z5 UTSW 7 6,477,720 (GRCm39) missense probably benign 0.11
R7404:Or6z5 UTSW 7 6,477,163 (GRCm39) missense probably damaging 1.00
R8120:Or6z5 UTSW 7 6,477,119 (GRCm39) missense probably benign 0.02
R8961:Or6z5 UTSW 7 6,477,763 (GRCm39) missense probably benign
R9009:Or6z5 UTSW 7 6,477,399 (GRCm39) missense probably benign 0.02
R9568:Or6z5 UTSW 7 6,477,334 (GRCm39) missense probably damaging 1.00
R9744:Or6z5 UTSW 7 6,477,210 (GRCm39) missense probably benign
Z1177:Or6z5 UTSW 7 6,477,389 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- GCTGCCTGGAAATGTGCTATGTGTC -3'
(R):5'- CCCACAGAAGATGATGATGGCTGAG -3'

Sequencing Primer
(F):5'- GAAATGTGCTATGTGTCAGTCACC -3'
(R):5'- CTGAGATAAAGTCGATCAGCTCTG -3'
Posted On 2014-04-24