Incidental Mutation 'R5035:Or2z9'
ID 389501
Institutional Source Beutler Lab
Gene Symbol Or2z9
Ensembl Gene ENSMUSG00000061561
Gene Name olfactory receptor family 2 subfamily Z member 9
Synonyms MOR282-1, GA_x6K02T2NUPS-231686-232630, Olfr373, MOR282-2
MMRRC Submission 042626-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.250) question?
Stock # R5035 (G1)
Quality Score 181
Status Validated
Chromosome 8
Chromosomal Location 72853606-72854550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72853922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 106 (L106H)
Ref Sequence ENSEMBL: ENSMUSP00000149452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074540] [ENSMUST00000213940] [ENSMUST00000215198]
AlphaFold E9Q4J3
Predicted Effect probably damaging
Transcript: ENSMUST00000074540
AA Change: L106H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074128
Gene: ENSMUSG00000061561
AA Change: L106H

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 6.1e-57 PFAM
Pfam:7TM_GPCR_Srsx 35 253 6.5e-8 PFAM
Pfam:7tm_1 41 290 4.9e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213940
AA Change: L106H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215198
AA Change: L106H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (46/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,494,810 (GRCm39) I361V probably benign Het
Afp A G 5: 90,655,764 (GRCm39) D583G probably benign Het
Bcas3 C T 11: 85,434,771 (GRCm39) A552V probably damaging Het
Bfsp2 T G 9: 103,357,065 (GRCm39) T121P probably benign Het
Bicra C T 7: 15,713,349 (GRCm39) R951Q possibly damaging Het
Cdc40 G A 10: 40,725,809 (GRCm39) T220I probably benign Het
Cdk5rap3 T C 11: 96,806,911 (GRCm39) probably benign Het
Clcnka A T 4: 141,122,469 (GRCm39) Y179* probably null Het
Creb3l1 T A 2: 91,817,431 (GRCm39) I361F probably benign Het
Csmd3 T C 15: 47,454,175 (GRCm39) Y3557C probably damaging Het
Dab2ip A G 2: 35,599,953 (GRCm39) S190G probably benign Het
Dbx1 T C 7: 49,282,284 (GRCm39) H307R unknown Het
Dock8 C A 19: 25,063,571 (GRCm39) P258T probably damaging Het
Eml6 T C 11: 29,804,187 (GRCm39) I305V probably benign Het
Frem3 T A 8: 81,342,543 (GRCm39) F1612Y probably damaging Het
Fubp1 A G 3: 151,920,488 (GRCm39) T76A probably benign Het
Glmp G C 3: 88,233,951 (GRCm39) probably benign Het
Gm20918 A G Y: 5,045,992 (GRCm39) Q183R probably benign Het
Krt28 T C 11: 99,257,650 (GRCm39) N397S probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Map3k13 T C 16: 21,740,421 (GRCm39) Y583H probably benign Het
Mcm3 A T 1: 20,873,642 (GRCm39) probably benign Het
Misp T C 10: 79,663,790 (GRCm39) V588A probably benign Het
Or1j19 A G 2: 36,676,903 (GRCm39) D122G probably damaging Het
Or4c105 A T 2: 88,648,443 (GRCm39) K309N probably benign Het
Or51a43 G A 7: 103,717,614 (GRCm39) T208I possibly damaging Het
Or8g37 G A 9: 39,731,390 (GRCm39) A152T possibly damaging Het
Osbpl9 A G 4: 108,923,364 (GRCm39) F449L probably damaging Het
Pkhd1l1 A G 15: 44,431,720 (GRCm39) D3358G probably damaging Het
Prodh2 A T 7: 30,205,904 (GRCm39) S247C possibly damaging Het
Prr23a3 G A 9: 98,747,183 (GRCm39) E46K possibly damaging Het
Ptprz1 A G 6: 23,016,214 (GRCm39) I837V probably benign Het
Rabgap1l A C 1: 160,551,606 (GRCm39) F263V probably damaging Het
Rnf4 A G 5: 34,508,683 (GRCm39) K182E probably damaging Het
Slc24a2 G T 4: 86,929,943 (GRCm39) R469S possibly damaging Het
Speer2 A G 16: 69,654,829 (GRCm39) probably null Het
Tg C A 15: 66,553,662 (GRCm39) probably null Het
Tns1 G A 1: 73,992,979 (GRCm39) probably benign Het
Top2b G T 14: 16,409,966 (GRCm38) A878S probably benign Het
Trgc4 G T 13: 19,536,506 (GRCm39) R188L unknown Het
Ugt3a1 G A 15: 9,361,704 (GRCm39) R160Q probably benign Het
Ush2a G T 1: 188,643,005 (GRCm39) L4122F probably damaging Het
Other mutations in Or2z9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Or2z9 APN 8 72,854,356 (GRCm39) missense probably damaging 1.00
IGL02440:Or2z9 APN 8 72,854,374 (GRCm39) missense probably damaging 1.00
IGL03403:Or2z9 APN 8 72,854,341 (GRCm39) missense probably benign 0.00
R1099:Or2z9 UTSW 8 72,854,503 (GRCm39) missense probably benign 0.00
R1418:Or2z9 UTSW 8 72,854,231 (GRCm39) missense probably damaging 1.00
R1452:Or2z9 UTSW 8 72,854,020 (GRCm39) nonsense probably null
R1621:Or2z9 UTSW 8 72,853,973 (GRCm39) missense probably damaging 1.00
R2021:Or2z9 UTSW 8 72,853,930 (GRCm39) missense possibly damaging 0.90
R4230:Or2z9 UTSW 8 72,854,188 (GRCm39) missense probably damaging 1.00
R4290:Or2z9 UTSW 8 72,853,612 (GRCm39) missense probably benign
R6884:Or2z9 UTSW 8 72,854,345 (GRCm39) missense probably benign 0.26
R6909:Or2z9 UTSW 8 72,854,372 (GRCm39) missense possibly damaging 0.95
R7233:Or2z9 UTSW 8 72,853,900 (GRCm39) missense probably benign
R7304:Or2z9 UTSW 8 72,854,190 (GRCm39) nonsense probably null
R7312:Or2z9 UTSW 8 72,853,793 (GRCm39) missense probably damaging 1.00
R7701:Or2z9 UTSW 8 72,854,030 (GRCm39) missense probably damaging 1.00
R8789:Or2z9 UTSW 8 72,854,135 (GRCm39) missense probably damaging 1.00
Z1088:Or2z9 UTSW 8 72,854,361 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTGATTGCCACAGACTCCAG -3'
(R):5'- CTCACAGAAGAAGTGGTCCAC -3'

Sequencing Primer
(F):5'- GCCACAGACTCCAGGCTCC -3'
(R):5'- AGAAGTGGTCCACGGTGTG -3'
Posted On 2016-06-06