Incidental Mutation 'R5884:Or6z1'
ID 454570
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 044087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5884 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 6504285-6505223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6504842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 128 (V128L)
Ref Sequence ENSEMBL: ENSMUSP00000147205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086319] [ENSMUST00000207055] [ENSMUST00000207339] [ENSMUST00000207624] [ENSMUST00000208066] [ENSMUST00000208207] [ENSMUST00000208623] [ENSMUST00000209097] [ENSMUST00000209029] [ENSMUST00000209055] [ENSMUST00000214383] [ENSMUST00000213549]
AlphaFold F6VB59
Predicted Effect probably benign
Transcript: ENSMUST00000086319
AA Change: V134L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000083499
Gene: ENSMUSG00000093877
AA Change: V134L

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
AA Change: V128L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000208066
AA Change: V128L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000208207
Predicted Effect probably benign
Transcript: ENSMUST00000208623
Predicted Effect probably benign
Transcript: ENSMUST00000209097
AA Change: V128L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000209029
AA Change: V128L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000209055
Predicted Effect probably benign
Transcript: ENSMUST00000214383
AA Change: V128L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000213549
AA Change: V128L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218572
Meta Mutation Damage Score 0.1285 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 95.6%
  • 20x: 82.8%
Validation Efficiency 96% (66/69)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp5 T C 9: 75,805,836 (GRCm39) M446T probably damaging Het
Cacna1g C T 11: 94,328,693 (GRCm39) A1052T probably damaging Het
Cand1 C T 10: 119,049,670 (GRCm39) A359T possibly damaging Het
Ccne2 A T 4: 11,199,411 (GRCm39) T271S probably benign Het
Cep112 A G 11: 108,461,142 (GRCm39) T546A probably damaging Het
Ces1g A G 8: 94,033,558 (GRCm39) S455P probably benign Het
Dnah11 A T 12: 118,141,269 (GRCm39) C496S probably benign Het
Dtx3l C G 16: 35,752,603 (GRCm39) E668Q probably benign Het
Dysf T A 6: 84,163,063 (GRCm39) F1579I probably damaging Het
Emx2 T G 19: 59,452,461 (GRCm39) D248E probably damaging Het
Eri2 A C 7: 119,371,552 (GRCm39) *275E probably null Het
F5 G A 1: 164,023,215 (GRCm39) R1591H probably benign Het
Fabp3 A G 4: 130,206,131 (GRCm39) T41A probably benign Het
Fam89a C T 8: 125,478,508 (GRCm39) R14H probably damaging Het
Gbe1 T A 16: 70,325,763 (GRCm39) probably null Het
Golga3 A G 5: 110,364,761 (GRCm39) E1211G probably damaging Het
Gpa33 T C 1: 165,980,329 (GRCm39) S131P probably damaging Het
Hyal6 T C 6: 24,743,368 (GRCm39) Y355H probably damaging Het
Ide A T 19: 37,249,552 (GRCm39) probably null Het
Ighv5-21 A T 12: 114,283,806 (GRCm39) probably benign Het
Iglc1 A T 16: 18,880,741 (GRCm39) probably benign Het
Impa1 A T 3: 10,381,284 (GRCm39) N199K probably damaging Het
Irx5 A C 8: 93,087,258 (GRCm39) T397P possibly damaging Het
Lonp2 A G 8: 87,368,254 (GRCm39) Y356C probably damaging Het
Matn4 A T 2: 164,246,528 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Nav2 T A 7: 49,246,917 (GRCm39) Y2147* probably null Het
Nek5 C T 8: 22,578,817 (GRCm39) probably null Het
Omt2b A G 9: 78,235,839 (GRCm39) M55V probably benign Het
Or5d37 A G 2: 87,924,140 (GRCm39) Y47H probably damaging Het
Or9g8 T A 2: 85,607,399 (GRCm39) I157K probably damaging Het
Parp4 T A 14: 56,852,207 (GRCm39) H796Q probably damaging Het
Pex2 T C 3: 5,626,359 (GRCm39) E150G probably benign Het
Poglut2 T C 1: 44,156,260 (GRCm39) N109S probably benign Het
Psmb2 T A 4: 126,578,014 (GRCm39) V64E possibly damaging Het
Psmd6 C T 14: 14,116,526 (GRCm38) R63H probably damaging Het
Ptprd A G 4: 75,900,927 (GRCm39) Y1061H probably damaging Het
Rab23 A G 1: 33,763,967 (GRCm39) probably benign Het
Rad51ap2 GAAAAGGAAACTATTTAAAA GAAAA 12: 11,507,534 (GRCm39) probably benign Het
Reg1 C T 6: 78,405,200 (GRCm39) S141L possibly damaging Het
Rock1 A T 18: 10,099,361 (GRCm39) I680K probably benign Het
Sez6l2 A G 7: 126,569,328 (GRCm39) probably benign Het
Slc34a2 A T 5: 53,226,722 (GRCm39) Q615L possibly damaging Het
Slu7 A G 11: 43,334,245 (GRCm39) K424E probably benign Het
Tctn2 A T 5: 124,741,895 (GRCm39) noncoding transcript Het
Tmem87a T A 2: 120,234,605 (GRCm39) probably benign Het
Trappc4 A G 9: 44,315,385 (GRCm39) F198L probably damaging Het
Usp33 C T 3: 152,073,967 (GRCm39) T271I probably benign Het
Vmn1r15 T A 6: 57,235,993 (GRCm39) I287K probably damaging Het
Vmn2r75 A C 7: 85,814,578 (GRCm39) I305R probably benign Het
Wdr26 T C 1: 181,015,106 (GRCm39) probably benign Het
Zzz3 T C 3: 152,156,295 (GRCm39) S684P 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
R0006:Or6z1 UTSW 7 6,504,610 (GRCm39) missense possibly damaging 0.58
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
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'- GAAGTCTACCAGCTCTGTGAG -3'
(R):5'- CTGCCTGGAGATGTGCTATG -3'

Sequencing Primer
(F):5'- CCACATGGGTACAGGACAAATTG -3'
(R):5'- AGATGTGCTATGTGTCAGTCACC -3'
Posted On 2017-02-10