Incidental Mutation 'R0006:Or6z1'
ID 43638
Institutional Source Beutler Lab
Gene Symbol Or6z1
Ensembl Gene ENSMUSG00000093877
Gene Name olfactory receptor family 6 subfamily Z member 1
Synonyms GA_x6K02T2QGBW-3232059-3231121, MOR103-9, Olfr1348
MMRRC Submission 041980-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R0006 (G1)
Quality Score 117
Status Validated
Chromosome 7
Chromosomal Location 6504285-6505223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6504610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 205 (I205T)
Ref Sequence ENSEMBL: ENSMUSP00000150969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086319] [ENSMUST00000207055] [ENSMUST00000207339] [ENSMUST00000207624] [ENSMUST00000208066] [ENSMUST00000208207] [ENSMUST00000209029] [ENSMUST00000208623] [ENSMUST00000209055] [ENSMUST00000209097] [ENSMUST00000213549] [ENSMUST00000214383]
AlphaFold F6VB59
Predicted Effect possibly damaging
Transcript: ENSMUST00000086319
AA Change: I211T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000083499
Gene: ENSMUSG00000093877
AA Change: I211T

DomainStartEndE-ValueType
Pfam:7tm_4 41 317 4.9e-50 PFAM
Pfam:7tm_1 51 300 2.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207055
Predicted Effect probably benign
Transcript: ENSMUST00000207339
Predicted Effect probably benign
Transcript: ENSMUST00000207624
Predicted Effect possibly damaging
Transcript: ENSMUST00000208066
AA Change: I205T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000208207
Predicted Effect possibly damaging
Transcript: ENSMUST00000209029
AA Change: I205T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000208623
Predicted Effect probably benign
Transcript: ENSMUST00000209055
Predicted Effect probably benign
Transcript: ENSMUST00000209097
Predicted Effect possibly damaging
Transcript: ENSMUST00000213549
AA Change: I205T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214383
AA Change: I205T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218572
Meta Mutation Damage Score 0.1474 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.3%
Validation Efficiency 97% (67/69)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,813,935 (GRCm39) probably benign Het
Aldh3a1 G A 11: 61,107,927 (GRCm39) V324M probably damaging Het
Als2cl T A 9: 110,723,686 (GRCm39) L694Q possibly damaging Het
Appl2 A G 10: 83,438,762 (GRCm39) F556L probably damaging Het
Atad2b T A 12: 4,992,030 (GRCm39) S210T possibly damaging Het
Aurka A G 2: 172,201,673 (GRCm39) probably null Het
Boc C T 16: 44,316,812 (GRCm39) V444I probably benign Het
Cfap61 G A 2: 145,919,232 (GRCm39) V655I probably benign Het
Chd8 A G 14: 52,472,750 (GRCm39) I351T possibly damaging Het
Chid1 T A 7: 141,076,339 (GRCm39) probably benign Het
Cyp3a41a T A 5: 145,641,606 (GRCm39) H288L probably benign Het
Dnase2b T A 3: 146,288,244 (GRCm39) I284F probably damaging Het
Dock2 A G 11: 34,262,453 (GRCm39) probably benign Het
Dst C T 1: 34,267,999 (GRCm39) T5325I probably benign Het
Erbb3 A G 10: 128,409,279 (GRCm39) probably null Het
Fancl A G 11: 26,419,695 (GRCm39) N316S possibly damaging Het
Farsa G T 8: 85,587,934 (GRCm39) probably benign Het
Fibcd1 T G 2: 31,728,599 (GRCm39) D86A probably damaging Het
Gab1 A T 8: 81,496,359 (GRCm39) M617K possibly damaging Het
Gabrd C A 4: 155,473,058 (GRCm39) V72L probably damaging Het
Ggh C A 4: 20,054,155 (GRCm39) T150K possibly damaging Het
Gnb3 G A 6: 124,812,767 (GRCm39) probably benign Het
Hephl1 T A 9: 14,988,060 (GRCm39) T683S probably benign Het
Hmcn1 G A 1: 150,684,427 (GRCm39) P381L probably damaging Het
Hspa8 T G 9: 40,715,925 (GRCm39) N544K probably benign Het
Hspg2 C T 4: 137,247,242 (GRCm39) T1155I probably damaging Het
Igdcc4 C T 9: 65,042,382 (GRCm39) probably benign Het
Jazf1 A G 6: 52,871,071 (GRCm39) probably benign Het
Kntc1 T A 5: 123,927,201 (GRCm39) S1219T probably benign Het
L3mbtl1 A T 2: 162,806,489 (GRCm39) Y460F possibly damaging Het
Lcor A G 19: 41,573,338 (GRCm39) T698A probably benign Het
Lyrm7 T A 11: 54,739,423 (GRCm39) T76S probably benign Het
Map1b C T 13: 99,571,810 (GRCm39) V304M probably damaging Het
Mcub A C 3: 129,727,414 (GRCm39) probably benign Het
Muc13 T C 16: 33,623,518 (GRCm39) S271P probably damaging Het
Myo16 A G 8: 10,525,988 (GRCm39) K843E probably damaging Het
Nav2 A G 7: 49,102,978 (GRCm39) E531G possibly damaging Het
Niban3 A G 8: 72,057,688 (GRCm39) probably benign Het
Nup188 T C 2: 30,212,035 (GRCm39) V553A probably benign Het
Or1e16 A G 11: 73,286,314 (GRCm39) F178S probably damaging Het
Or1e1c A G 11: 73,266,414 (GRCm39) M283V possibly damaging Het
Or52d1 A G 7: 103,755,527 (GRCm39) I14V probably benign Het
Or8b9 T A 9: 37,766,516 (GRCm39) V134D possibly damaging Het
P4ha3 C T 7: 99,968,155 (GRCm39) R378* probably null Het
Rap1gds1 G T 3: 138,689,632 (GRCm39) probably null Het
Rbfox1 T A 16: 7,148,284 (GRCm39) S244R probably benign Het
Rpp40 G A 13: 36,080,718 (GRCm39) P339S probably damaging Het
Rsph4a T C 10: 33,785,144 (GRCm39) C148R probably damaging Het
Skint5 T C 4: 113,751,059 (GRCm39) probably benign Het
Sptbn1 A G 11: 30,073,855 (GRCm39) S1405P probably damaging Het
Tex35 T C 1: 156,927,314 (GRCm39) K154E possibly damaging Het
Thada T C 17: 84,533,468 (GRCm39) N1661S probably benign Het
Tle4 A G 19: 14,444,078 (GRCm39) probably benign Het
Tnxb T C 17: 34,901,266 (GRCm39) S1027P probably benign Het
Tpm3 T A 3: 89,994,968 (GRCm39) probably benign Het
Ubr4 T C 4: 139,158,960 (GRCm39) F2438L probably benign Het
Uggt2 A T 14: 119,287,075 (GRCm39) F640L probably benign Het
Vmn1r20 T G 6: 57,409,290 (GRCm39) H205Q probably damaging Het
Wbp2 T C 11: 115,970,614 (GRCm39) probably null Het
Xirp1 T C 9: 119,846,520 (GRCm39) I788V probably benign Het
Zc3hav1 A G 6: 38,296,637 (GRCm39) probably null Het
Zfp687 A G 3: 94,918,767 (GRCm39) I335T probably damaging Het
Zfpm1 A G 8: 123,061,227 (GRCm39) Y264C probably damaging Het
Other mutations in Or6z1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01785:Or6z1 APN 7 6,504,899 (GRCm39) missense probably benign 0.00
IGL03157:Or6z1 APN 7 6,504,892 (GRCm39) missense probably damaging 1.00
R1763:Or6z1 UTSW 7 6,504,440 (GRCm39) missense probably benign 0.07
R2178:Or6z1 UTSW 7 6,504,487 (GRCm39) missense probably damaging 0.98
R5787:Or6z1 UTSW 7 6,504,989 (GRCm39) missense probably damaging 1.00
R5884:Or6z1 UTSW 7 6,504,842 (GRCm39) missense probably benign 0.02
R6248:Or6z1 UTSW 7 6,504,675 (GRCm39) nonsense probably null
R7026:Or6z1 UTSW 7 6,504,820 (GRCm39) missense probably damaging 0.97
R7635:Or6z1 UTSW 7 6,504,581 (GRCm39) missense probably benign 0.06
R7955:Or6z1 UTSW 7 6,505,078 (GRCm39) missense possibly damaging 0.91
R8443:Or6z1 UTSW 7 6,504,734 (GRCm39) missense probably damaging 1.00
R9474:Or6z1 UTSW 7 6,505,150 (GRCm39) missense probably benign
R9719:Or6z1 UTSW 7 6,504,999 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTGCTGAGTAAAAGATGCCCACC -3'
(R):5'- TATGTGTCAGTCACCATGCCCACC -3'

Sequencing Primer
(F):5'- CACTACCAGATGGGAGGCAC -3'
(R):5'- ATAGTCCTCATCTGCACAGAGTG -3'
Posted On 2013-05-29