Incidental Mutation 'R6212:Or6z6'
ID 503500
Institutional Source Beutler Lab
Gene Symbol Or6z6
Ensembl Gene ENSMUSG00000034583
Gene Name olfactory receptor family 6 subfamily Z member 6
Synonyms Olfr1347, GA_x6K02T2QGBW-3218686-3217748, MOR103-11, MOR103-19_i
MMRRC Submission 044345-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R6212 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 6490912-6491871 bp(-) (GRCm39)
Type of Mutation splice site (133 bp from exon)
DNA Base Change (assembly) T to C at 6491367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036357] [ENSMUST00000086318] [ENSMUST00000207339] [ENSMUST00000209055] [ENSMUST00000209866] [ENSMUST00000220413]
AlphaFold Q8VF33
Predicted Effect probably benign
Transcript: ENSMUST00000036357
AA Change: I162V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046590
Gene: ENSMUSG00000034583
AA Change: I162V

DomainStartEndE-ValueType
Pfam:7tm_4 42 318 2.5e-50 PFAM
Pfam:7tm_1 52 301 2.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086318
SMART Domains Protein: ENSMUSP00000083498
Gene: ENSMUSG00000096228

DomainStartEndE-ValueType
Pfam:7tm_4 35 311 2.1e-50 PFAM
Pfam:7tm_1 45 294 6.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207339
AA Change: I162V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably null
Transcript: ENSMUST00000209055
Predicted Effect probably benign
Transcript: ENSMUST00000209866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218572
Predicted Effect probably benign
Transcript: ENSMUST00000220413
AA Change: I169V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 96% (52/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,172,505 (GRCm39) I116N probably damaging Het
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Ap3b1 C A 13: 94,630,207 (GRCm39) H821N unknown Het
Apex1 C T 14: 51,164,350 (GRCm39) P264S probably benign Het
Arhgap27 T C 11: 103,251,698 (GRCm39) Y10C probably damaging Het
Bag6 A G 17: 35,359,278 (GRCm39) T208A probably benign Het
Brd4 G T 17: 32,421,423 (GRCm39) P771Q probably damaging Het
Capn3 A G 2: 120,307,667 (GRCm39) S69G probably benign Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Celsr1 T C 15: 85,800,888 (GRCm39) H2519R probably benign Het
Chd8 T A 14: 52,439,155 (GRCm39) N48I probably damaging Het
Cmip T C 8: 118,103,895 (GRCm39) Y128H probably damaging Het
Dnhd1 C T 7: 105,353,255 (GRCm39) P2803S probably damaging Het
Dusp26 G A 8: 31,584,252 (GRCm39) D120N probably damaging Het
Epha6 T C 16: 60,245,719 (GRCm39) H160R possibly damaging Het
Erg C T 16: 95,180,022 (GRCm39) V215I probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Gabbr2 T C 4: 46,681,189 (GRCm39) D124G probably damaging Het
Gapdh T C 6: 125,139,661 (GRCm39) H203R probably damaging Het
Garin1b T C 6: 29,319,373 (GRCm39) L59P probably damaging Het
Ggnbp2 T C 11: 84,727,503 (GRCm39) M42V possibly damaging Het
Hk2 C A 6: 82,705,823 (GRCm39) A827S probably benign Het
Hoxa5 T C 6: 52,179,694 (GRCm39) E227G probably damaging Het
Itgax C A 7: 127,729,504 (GRCm39) H31N possibly damaging Het
Itgax A G 7: 127,747,025 (GRCm39) D942G probably benign Het
Kars1 A T 8: 112,726,829 (GRCm39) probably null Het
Lama3 T C 18: 12,646,702 (GRCm39) F1739L probably damaging Het
Map2k1 A T 9: 64,112,445 (GRCm39) L155Q probably damaging Het
Mcf2l A T 8: 13,067,431 (GRCm39) D1013V probably damaging Het
Mocs1 G A 17: 49,742,224 (GRCm39) G118S probably damaging Het
Ncam2 T C 16: 81,229,650 (GRCm39) S37P probably damaging Het
Nfxl1 A G 5: 72,673,553 (GRCm39) probably null Het
Nodal C T 10: 61,259,300 (GRCm39) H246Y possibly damaging Het
Nwd1 G A 8: 73,421,950 (GRCm39) V999M possibly damaging Het
Oaz3 T A 3: 94,342,375 (GRCm39) T139S probably benign Het
Or7e165 A G 9: 19,694,585 (GRCm39) D52G probably damaging Het
P3h3 T A 6: 124,822,606 (GRCm39) T522S probably benign Het
Pgap1 A G 1: 54,554,052 (GRCm39) F457S probably damaging Het
Prkce T C 17: 86,866,729 (GRCm39) Y530H probably damaging Het
Ptpn3 A T 4: 57,270,070 (GRCm39) C31S probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Serpinb6e T A 13: 34,025,220 (GRCm39) N24Y probably damaging Het
Slc4a8 T C 15: 100,709,452 (GRCm39) V937A possibly damaging Het
Smgc T A 15: 91,734,830 (GRCm39) probably benign Het
Srcap T A 7: 127,148,861 (GRCm39) N2027K probably damaging Het
Stra6l T C 4: 45,884,664 (GRCm39) Y565H probably benign Het
Tmem262 A G 19: 6,130,668 (GRCm39) E62G possibly damaging Het
Tnrc6a T A 7: 122,742,965 (GRCm39) probably null Het
Txlnb T C 10: 17,675,057 (GRCm39) I70T probably damaging Het
Whrn A T 4: 63,412,923 (GRCm39) L25* probably null Het
Zfp326 T A 5: 106,058,097 (GRCm39) V412E probably damaging Het
Zfp831 A G 2: 174,487,661 (GRCm39) R779G possibly damaging Het
Other mutations in Or6z6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02395:Or6z6 APN 7 6,491,802 (GRCm39) missense possibly damaging 0.83
R0277:Or6z6 UTSW 7 6,491,433 (GRCm39) missense probably benign 0.00
R0891:Or6z6 UTSW 7 6,491,471 (GRCm39) missense probably damaging 1.00
R1394:Or6z6 UTSW 7 6,491,361 (GRCm39) missense probably damaging 1.00
R1395:Or6z6 UTSW 7 6,491,361 (GRCm39) missense probably damaging 1.00
R1503:Or6z6 UTSW 7 6,491,178 (GRCm39) missense probably damaging 1.00
R3014:Or6z6 UTSW 7 6,491,470 (GRCm39) nonsense probably null
R5194:Or6z6 UTSW 7 6,491,519 (GRCm39) missense probably damaging 1.00
R5477:Or6z6 UTSW 7 6,491,570 (GRCm39) missense probably benign 0.00
R6137:Or6z6 UTSW 7 6,491,844 (GRCm39) missense probably benign 0.02
R6706:Or6z6 UTSW 7 6,491,049 (GRCm39) missense probably damaging 1.00
R7444:Or6z6 UTSW 7 6,490,919 (GRCm39) missense probably benign 0.00
Z1176:Or6z6 UTSW 7 6,491,697 (GRCm39) missense probably damaging 0.98
Z1176:Or6z6 UTSW 7 6,491,691 (GRCm39) missense probably benign 0.00
Z1177:Or6z6 UTSW 7 6,491,203 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CATCCCAATAGCTGAATAGGAGG -3'
(R):5'- TTACTCGTGGGACTGTGGAC -3'

Sequencing Primer
(F):5'- CCCAATAGCTGAATAGGAGGCTAGG -3'
(R):5'- ACGGGGCCCTACCACATTTC -3'
Posted On 2018-02-27