Incidental Mutation 'R6137:Or6z6'
ID 488399
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 044284-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R6137 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 6490912-6491871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6491844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 3 (T3A)
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: T3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046590
Gene: ENSMUSG00000034583
AA Change: T3A

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: T3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209055
AA Change: T3A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000209866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218572
Predicted Effect probably benign
Transcript: ENSMUST00000220413
AA Change: T10A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (58/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik G T 7: 130,959,342 (GRCm39) H165Q probably damaging Het
Akap13 T A 7: 75,327,164 (GRCm39) F721Y probably damaging Het
Akap6 A T 12: 53,187,137 (GRCm39) D1517V probably damaging Het
Amigo3 T A 9: 107,930,927 (GRCm39) S117T probably damaging Het
Atf7ip2 T A 16: 10,019,275 (GRCm39) N34K probably damaging Het
Cacnb1 A C 11: 97,896,608 (GRCm39) V351G probably damaging Het
Casp9 T A 4: 141,532,660 (GRCm39) probably null Het
Ccdc51 C T 9: 108,918,483 (GRCm39) T24I probably benign Het
Cdh23 T A 10: 60,270,291 (GRCm39) Y618F probably damaging Het
Chd1 T A 17: 15,978,950 (GRCm39) W1271R probably damaging Het
Dars1 T C 1: 128,296,176 (GRCm39) T386A probably benign Het
Dchs1 T A 7: 105,414,313 (GRCm39) D834V probably damaging Het
Dgkd T A 1: 87,864,103 (GRCm39) V933E possibly damaging Het
Dnah17 A G 11: 117,916,480 (GRCm39) F4203S probably damaging Het
Fancm T C 12: 65,177,156 (GRCm39) L2000P probably damaging Het
Fbxo11 A T 17: 88,316,097 (GRCm39) H444Q probably benign Het
Fbxw14 T A 9: 109,105,290 (GRCm39) T292S probably damaging Het
Fer1l6 T C 15: 58,431,055 (GRCm39) S237P probably damaging Het
Frem3 T C 8: 81,341,676 (GRCm39) I1323T probably benign Het
Grin2a A G 16: 9,471,313 (GRCm39) F652L probably benign Het
Grin2b T A 6: 135,900,456 (GRCm39) M142L possibly damaging Het
Helz A G 11: 107,509,886 (GRCm39) Q503R possibly damaging Het
Ighv5-17 A G 12: 113,822,915 (GRCm39) Y69H probably benign Het
Il17ra A G 6: 120,452,543 (GRCm39) N242S probably benign Het
Immp1l G C 2: 105,794,553 (GRCm39) G117A probably damaging Het
Itm2c T C 1: 85,822,413 (GRCm39) V10A probably benign Het
Kif1b T C 4: 149,322,883 (GRCm39) K679E possibly damaging Het
Kng1 T C 16: 22,893,395 (GRCm39) V256A possibly damaging Het
Lamc2 T G 1: 153,041,899 (GRCm39) R78S possibly damaging Het
Loxl4 A G 19: 42,587,232 (GRCm39) F621S probably damaging Het
Lpl T A 8: 69,345,399 (GRCm39) D134E probably damaging Het
Lypd3 T C 7: 24,339,919 (GRCm39) Y329H probably benign Het
Mettl13 T C 1: 162,363,455 (GRCm39) D225G probably benign Het
Myo7b A G 18: 32,133,027 (GRCm39) F441L probably damaging Het
Nnt T A 13: 119,472,864 (GRCm39) M699L possibly damaging Het
Nr1h3 A T 2: 91,022,196 (GRCm39) M144K probably damaging Het
Or2t46 A T 11: 58,471,894 (GRCm39) M75L probably benign Het
Or5al6 A G 2: 85,976,313 (GRCm39) V255A probably benign Het
Pappa2 A T 1: 158,699,113 (GRCm39) Y667N probably damaging Het
Prps1l3 A G 12: 57,285,674 (GRCm39) I155V probably benign Het
Ptgs2 T A 1: 149,976,744 (GRCm39) N24K probably benign Het
Ralgds A T 2: 28,437,600 (GRCm39) M514L probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Sacm1l T A 9: 123,398,070 (GRCm39) V254D probably damaging Het
Selenot A T 3: 58,492,705 (GRCm39) Q64L probably damaging Het
Sgsm2 G A 11: 74,741,677 (GRCm39) R1037W probably damaging Het
Slc22a12 A G 19: 6,592,754 (GRCm39) V10A probably benign Het
Spem2 G T 11: 69,707,522 (GRCm39) S481* probably null Het
Styk1 C T 6: 131,287,979 (GRCm39) G128D probably damaging Het
Tex54 A T 19: 8,718,148 (GRCm39) D6V probably damaging Het
Tmc6 A T 11: 117,667,154 (GRCm39) L148Q probably damaging Het
Tmem138 A C 19: 10,552,199 (GRCm39) probably null Het
Tnpo3 A G 6: 29,555,267 (GRCm39) V772A probably benign Het
Topaz1 T C 9: 122,626,821 (GRCm39) F1483S possibly damaging Het
Tuba4a C A 1: 75,192,699 (GRCm39) C305F probably damaging Het
Ubap1 T G 4: 41,379,262 (GRCm39) F159V possibly damaging Het
Vmn2r9 A G 5: 108,996,882 (GRCm39) I129T probably benign Het
Wwc2 A T 8: 48,309,298 (GRCm39) M828K unknown Het
Zfp236 A T 18: 82,689,919 (GRCm39) S187T 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
R6212:Or6z6 UTSW 7 6,491,367 (GRCm39) splice site probably null
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'- GGAGCTCTTTGTGACTGCAGA -3'
(R):5'- ACATCATTCCTACGAGGTCAAA -3'

Sequencing Primer
(F):5'- AGCTCTTTGTGACTGCAGATGAGG -3'
(R):5'- GGCTTTGAGGATTCATAACCACAGC -3'
Posted On 2017-10-10