Incidental Mutation 'R4230:Or2z9'
ID 320794
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 041049-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.250) question?
Stock # R4230 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 72853606-72854550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72854188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 195 (Y195H)
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: Y195H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074128
Gene: ENSMUSG00000061561
AA Change: Y195H

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: Y195H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215198
AA Change: Y195H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alg11 T A 8: 22,555,534 (GRCm39) I223N probably damaging Het
Ankrd26 G C 6: 118,536,349 (GRCm39) probably null Het
Apbb1 T C 7: 105,216,891 (GRCm39) D264G probably damaging Het
Arhgap32 T C 9: 32,168,770 (GRCm39) Y918H probably benign Het
Astn2 T G 4: 65,829,919 (GRCm39) T584P probably damaging Het
Atxn7 G A 14: 14,100,381 (GRCm38) S689N probably benign Het
Cacna1h T C 17: 25,606,837 (GRCm39) N873S probably damaging Het
Cadps T A 14: 12,488,987 (GRCm38) I857F probably damaging Het
Cfap119 T A 7: 127,186,002 (GRCm39) M102L probably benign Het
Cog6 T C 3: 52,900,229 (GRCm39) T511A probably benign Het
Dppa3 A T 6: 122,606,291 (GRCm39) N118I probably damaging Het
Dst A G 1: 34,234,909 (GRCm39) N3663D probably benign Het
Eif1ad14 A T 12: 87,886,567 (GRCm39) S21T unknown Het
Eme1 G A 11: 94,538,818 (GRCm39) T354M possibly damaging Het
Gm10735 T C 13: 113,177,743 (GRCm39) probably benign Het
Ifi44l A T 3: 151,468,514 (GRCm39) C5* probably null Het
Itln1 G A 1: 171,362,375 (GRCm39) T2I probably benign Het
Jam2 T A 16: 84,618,180 (GRCm39) M309K possibly damaging Het
Kcnk5 C A 14: 20,194,852 (GRCm39) C162F probably damaging Het
Metrn A G 17: 26,015,915 (GRCm39) probably benign Het
Muc5b T A 7: 141,417,259 (GRCm39) Y3402N probably benign Het
Ncoa7 A T 10: 30,574,253 (GRCm39) probably null Het
Nxpe4 A G 9: 48,304,122 (GRCm39) R70G possibly damaging Het
Onecut3 T C 10: 80,349,793 (GRCm39) I429T probably damaging Het
Or2n1 A C 17: 38,486,772 (GRCm39) I266L possibly damaging Het
Or4k37 T G 2: 111,159,475 (GRCm39) L237R probably damaging Het
Or52e18 A T 7: 104,609,801 (GRCm39) I46N probably benign Het
Pds5a A G 5: 65,787,329 (GRCm39) S858P possibly damaging Het
Phf11c A T 14: 59,630,516 (GRCm39) V63E probably benign Het
Rasa3 A G 8: 13,620,264 (GRCm39) F802L possibly damaging Het
Sec24b G T 3: 129,834,368 (GRCm39) Q141K probably benign Het
Sec61a1 A T 6: 88,492,413 (GRCm39) probably null Het
Slc45a3 T A 1: 131,909,399 (GRCm39) L532Q probably damaging Het
Slc46a2 T C 4: 59,914,048 (GRCm39) I292V probably benign Het
Smg1 C T 7: 117,747,956 (GRCm39) probably null Het
Spag6 T A 2: 18,720,449 (GRCm39) probably null Het
Spi1 T C 2: 90,945,680 (GRCm39) F254L probably damaging Het
Sspo T C 6: 48,467,868 (GRCm39) S4272P probably benign Het
Tgm5 T C 2: 120,901,216 (GRCm39) T292A probably damaging Het
Tmem229a T A 6: 24,954,831 (GRCm39) I308F probably damaging Het
Ttn T C 2: 76,554,464 (GRCm39) I30784V possibly damaging Het
Urod T A 4: 116,849,880 (GRCm39) T173S probably benign Het
Vmn1r223 A T 13: 23,433,585 (GRCm39) M60L probably benign Het
Vmn2r2 T A 3: 64,041,912 (GRCm39) I268L probably benign Het
Vwa8 C T 14: 79,320,292 (GRCm39) T1101M probably benign Het
Zc3h12c T A 9: 52,055,728 (GRCm39) probably null 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
R4290:Or2z9 UTSW 8 72,853,612 (GRCm39) missense probably benign
R5035:Or2z9 UTSW 8 72,853,922 (GRCm39) missense probably damaging 1.00
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'- CTACCAGGTGCTCATGAGAAAC -3'
(R):5'- GCTGCCTGGGACCATGTATATG -3'

Sequencing Primer
(F):5'- TGCTCATGAGAAACCAAGTGTGTC -3'
(R):5'- CTGCCTGGGACCATGTATATGAATAC -3'
Posted On 2015-06-12