Incidental Mutation 'R2046:Or8h9'
ID 221926
Institutional Source Beutler Lab
Gene Symbol Or8h9
Ensembl Gene ENSMUSG00000075168
Gene Name olfactory receptor family 8 subfamily H member 9
Synonyms GA_x6K02T2Q125-48446067-48445129, MOR206-3, Olfr1099
MMRRC Submission 040053-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R2046 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86788862-86789800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 86789077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 242 (A242S)
Ref Sequence ENSEMBL: ENSMUSP00000149528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099871] [ENSMUST00000213456]
AlphaFold Q8VG37
Predicted Effect possibly damaging
Transcript: ENSMUST00000099871
AA Change: A242S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097456
Gene: ENSMUSG00000075168
AA Change: A242S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.9e-54 PFAM
Pfam:7tm_1 41 290 1.2e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213456
AA Change: A242S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.1259 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (71/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,553 (GRCm39) D84V probably damaging Het
Abcc5 A T 16: 20,218,567 (GRCm39) S272T possibly damaging Het
Adgre4 A G 17: 56,085,847 (GRCm39) N49D possibly damaging Het
Ap2b1 A T 11: 83,227,212 (GRCm39) Y328F probably benign Het
Arhgef33 G C 17: 80,680,895 (GRCm39) E678D probably benign Het
Arid2 G A 15: 96,267,268 (GRCm39) V583I probably damaging Het
Bdkrb1 T A 12: 105,570,985 (GRCm39) S184T probably benign Het
Bend3 T C 10: 43,387,842 (GRCm39) F745S probably damaging Het
Card10 A T 15: 78,671,673 (GRCm39) V597E possibly damaging Het
Casp3 T A 8: 47,082,761 (GRCm39) probably benign Het
Ccnb2 A G 9: 70,316,629 (GRCm39) V340A probably benign Het
Cdkl3 G T 11: 51,917,677 (GRCm39) V325L probably benign Het
Clec4n T A 6: 123,223,463 (GRCm39) N153K probably benign Het
Crtac1 C T 19: 42,322,492 (GRCm39) V83I probably damaging Het
Cul9 C A 17: 46,854,659 (GRCm39) L14F probably damaging Het
Dgka T C 10: 128,559,404 (GRCm39) Y519C probably damaging Het
Dhrs7 T G 12: 72,699,040 (GRCm39) K314T possibly damaging Het
Dnaaf9 T A 2: 130,652,837 (GRCm39) I42L possibly damaging Het
Dnah10 G T 5: 124,873,405 (GRCm39) K2542N probably benign Het
Dock5 A T 14: 68,049,591 (GRCm39) V731E probably benign Het
Dpy19l1 T A 9: 24,334,455 (GRCm39) H571L probably damaging Het
Dzip1 A T 14: 119,159,890 (GRCm39) I106N probably damaging Het
Eif2ak4 A T 2: 118,281,889 (GRCm39) probably benign Het
Epha4 T C 1: 77,483,799 (GRCm39) Y70C probably damaging Het
Eps15 T C 4: 109,227,793 (GRCm39) F344S probably damaging Het
Erbb4 C T 1: 68,337,482 (GRCm39) R612Q probably benign Het
Fam83h T C 15: 75,874,787 (GRCm39) H850R probably benign Het
Fancg A G 4: 43,004,604 (GRCm39) C484R probably damaging Het
Fzd9 A G 5: 135,278,538 (GRCm39) I449T probably damaging Het
Gm10647 A G 9: 66,705,519 (GRCm39) probably benign Het
Iigp1c T A 18: 60,378,571 (GRCm39) H35Q probably benign Het
Itga11 C T 9: 62,634,979 (GRCm39) L86F probably damaging Het
Lamc2 C T 1: 153,017,511 (GRCm39) R492H probably benign Het
Marchf6 A G 15: 31,486,580 (GRCm39) V325A probably benign Het
Myo5b A T 18: 74,710,526 (GRCm39) I47F probably benign Het
Nek9 T A 12: 85,367,481 (GRCm39) probably benign Het
Nelfb T A 2: 25,096,323 (GRCm39) N262I probably damaging Het
Neurl4 A G 11: 69,799,523 (GRCm39) D942G probably damaging Het
Nipbl G A 15: 8,353,951 (GRCm39) P1729S probably benign Het
Nr4a3 A G 4: 48,067,807 (GRCm39) T468A possibly damaging Het
Nrm G A 17: 36,175,109 (GRCm39) V146I probably benign Het
Pitx3 T C 19: 46,125,618 (GRCm39) E42G possibly damaging Het
Pkd1l2 C T 8: 117,726,694 (GRCm39) A2271T probably damaging Het
Pofut2 A G 10: 77,096,428 (GRCm39) N51S probably damaging Het
Ppp1r3a T C 6: 14,722,103 (GRCm39) E273G probably benign Het
Psme4 A G 11: 30,767,723 (GRCm39) probably benign Het
Pus7l T C 15: 94,438,666 (GRCm39) I60V probably benign Het
Pygo2 T A 3: 89,340,455 (GRCm39) N284K possibly damaging Het
Ralgapa1 C T 12: 55,741,945 (GRCm39) C1368Y probably damaging Het
Rbm45 G A 2: 76,205,742 (GRCm39) G198E probably benign Het
Reln T C 5: 22,147,625 (GRCm39) I2442V probably benign Het
Rmi1 T C 13: 58,555,772 (GRCm39) V7A probably benign Het
Rsf1 T C 7: 97,310,884 (GRCm39) L538P probably benign Het
Rsph4a T G 10: 33,790,539 (GRCm39) probably benign Het
Sardh A T 2: 27,105,094 (GRCm39) D676E possibly damaging Het
Sh3tc2 A G 18: 62,123,914 (GRCm39) M892V probably benign Het
Slc38a11 A G 2: 65,188,529 (GRCm39) F80S probably damaging Het
Slc6a2 C A 8: 93,699,554 (GRCm39) S194* probably null Het
Slco2b1 A G 7: 99,339,686 (GRCm39) F86L probably damaging Het
Smc3 G A 19: 53,627,845 (GRCm39) D875N probably benign Het
Sp100 G A 1: 85,636,786 (GRCm39) E575K possibly damaging Het
Spns2 A G 11: 72,349,866 (GRCm39) L196P possibly damaging Het
Taf8 A G 17: 47,801,201 (GRCm39) S261P probably benign Het
Trim2 A G 3: 84,115,596 (GRCm39) L86P probably damaging Het
Ttn C A 2: 76,738,138 (GRCm39) V4134F probably benign Het
Ush2a A G 1: 188,089,124 (GRCm39) T360A probably benign Het
Usp28 T A 9: 48,950,375 (GRCm39) C935S probably damaging Het
Vps37d T A 5: 135,102,831 (GRCm39) M134L probably benign Het
Vwa2 T G 19: 56,894,010 (GRCm39) V329G probably benign Het
Zfp110 A G 7: 12,583,349 (GRCm39) R666G probably benign Het
Other mutations in Or8h9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Or8h9 APN 2 86,789,265 (GRCm39) missense possibly damaging 0.90
IGL01624:Or8h9 APN 2 86,789,574 (GRCm39) missense probably benign 0.05
IGL02119:Or8h9 APN 2 86,789,527 (GRCm39) missense probably benign 0.24
IGL02433:Or8h9 APN 2 86,789,392 (GRCm39) missense possibly damaging 0.63
IGL02646:Or8h9 APN 2 86,789,697 (GRCm39) missense probably damaging 1.00
IGL02824:Or8h9 APN 2 86,789,337 (GRCm39) missense probably benign 0.03
IGL03228:Or8h9 APN 2 86,789,050 (GRCm39) missense probably benign 0.16
R0208:Or8h9 UTSW 2 86,789,748 (GRCm39) missense probably damaging 0.96
R0521:Or8h9 UTSW 2 86,789,190 (GRCm39) missense probably damaging 1.00
R0783:Or8h9 UTSW 2 86,788,906 (GRCm39) missense probably benign
R1706:Or8h9 UTSW 2 86,789,424 (GRCm39) missense probably damaging 1.00
R1859:Or8h9 UTSW 2 86,789,425 (GRCm39) missense probably damaging 0.99
R2126:Or8h9 UTSW 2 86,789,442 (GRCm39) missense possibly damaging 0.63
R2140:Or8h9 UTSW 2 86,789,625 (GRCm39) missense probably damaging 1.00
R4452:Or8h9 UTSW 2 86,789,043 (GRCm39) missense probably damaging 0.99
R4680:Or8h9 UTSW 2 86,789,665 (GRCm39) missense possibly damaging 0.87
R4958:Or8h9 UTSW 2 86,789,449 (GRCm39) missense possibly damaging 0.75
R4970:Or8h9 UTSW 2 86,789,698 (GRCm39) missense probably damaging 1.00
R5112:Or8h9 UTSW 2 86,789,698 (GRCm39) missense probably damaging 1.00
R5532:Or8h9 UTSW 2 86,788,924 (GRCm39) nonsense probably null
R5691:Or8h9 UTSW 2 86,789,616 (GRCm39) missense probably damaging 1.00
R6851:Or8h9 UTSW 2 86,789,611 (GRCm39) missense possibly damaging 0.46
R6858:Or8h9 UTSW 2 86,789,034 (GRCm39) missense probably benign 0.11
R7368:Or8h9 UTSW 2 86,789,602 (GRCm39) missense probably damaging 1.00
R9014:Or8h9 UTSW 2 86,789,035 (GRCm39) missense probably benign 0.03
R9474:Or8h9 UTSW 2 86,789,757 (GRCm39) missense probably benign 0.03
R9792:Or8h9 UTSW 2 86,789,119 (GRCm39) missense probably damaging 1.00
R9793:Or8h9 UTSW 2 86,789,119 (GRCm39) missense probably damaging 1.00
R9795:Or8h9 UTSW 2 86,789,119 (GRCm39) missense probably damaging 1.00
Z1088:Or8h9 UTSW 2 86,789,010 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGGAATTCTAATTCTCTGTTGCTG -3'
(R):5'- TTATAGCCCTCTCATGCAGC -3'

Sequencing Primer
(F):5'- TGACCTTTGGCATAATTGTTACC -3'
(R):5'- TGCAGCAACACACATGATATTG -3'
Posted On 2014-08-25