Incidental Mutation 'R4680:Or8h9'
ID 349973
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 041933-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4680 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86788862-86789800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86789665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 46 (I46V)
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: I46V

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097456
Gene: ENSMUSG00000075168
AA Change: I46V

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: I46V

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.3688 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 96% (48/50)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A T 2: 151,315,390 (GRCm39) L96Q probably damaging Het
4931414P19Rik T C 14: 54,822,533 (GRCm39) Y368C probably damaging Het
Acin1 T C 14: 54,924,215 (GRCm39) N8S probably benign Het
Aspm T C 1: 139,408,409 (GRCm39) V2432A probably benign Het
Atf2 A T 2: 73,659,025 (GRCm39) probably null Het
B3gnt2 A G 11: 22,787,105 (GRCm39) S28P probably damaging Het
Chil5 A G 3: 105,942,191 (GRCm39) probably benign Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dennd3 A T 15: 73,405,225 (GRCm39) H326L possibly damaging Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Eprs1 T C 1: 185,118,475 (GRCm39) V461A possibly damaging Het
Fhad1 G A 4: 141,738,858 (GRCm39) Q31* probably null Het
Gpr26 A G 7: 131,576,082 (GRCm39) T249A probably benign Het
Gtf2ird1 T A 5: 134,386,735 (GRCm39) M958L probably damaging Het
Kat2b-ps A G 5: 93,539,299 (GRCm39) noncoding transcript Het
Kdm2b A T 5: 123,072,849 (GRCm39) V343E probably damaging Het
Lipi A G 16: 75,362,417 (GRCm39) probably null Het
Ltb4r1 T C 14: 56,004,925 (GRCm39) F76S probably damaging Het
Msantd2 A G 9: 37,434,387 (GRCm39) Y209C probably damaging Het
Nid1 G A 13: 13,647,437 (GRCm39) C401Y probably damaging Het
Obox1 A T 7: 15,290,089 (GRCm39) N144I probably damaging Het
Or14j7 T C 17: 38,234,813 (GRCm39) S119P probably damaging Het
Or8k20 T A 2: 86,106,517 (GRCm39) I105F possibly damaging Het
Plec T C 15: 76,064,775 (GRCm39) E1630G unknown Het
Ppp2r5e C T 12: 75,516,533 (GRCm39) R218Q probably damaging Het
Prkdc A G 16: 15,589,894 (GRCm39) T2586A probably benign Het
Ptprj T C 2: 90,290,840 (GRCm39) N633S probably benign Het
Rab11fip2 T C 19: 59,924,452 (GRCm39) N284S probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Ropn1 A G 16: 34,497,675 (GRCm39) Q189R possibly damaging Het
Rwdd2b A G 16: 87,233,950 (GRCm39) probably null Het
Ryr2 A T 13: 11,610,119 (GRCm39) S4236T probably benign Het
Sigmar1 A G 4: 41,741,251 (GRCm39) M1T probably null Het
Sncg T A 14: 34,095,268 (GRCm39) N79I probably benign Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn C T 2: 76,763,021 (GRCm39) G3213S probably damaging Het
Uqcrc1 G A 9: 108,776,929 (GRCm39) R77H probably damaging Het
Vps13d A C 4: 144,835,080 (GRCm39) L2756R possibly damaging 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
R2046:Or8h9 UTSW 2 86,789,077 (GRCm39) missense possibly damaging 0.75
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
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'- ATTTGAGTGAAGCAGCCCA -3'
(R):5'- AGGAGCCAATGATACTTCTGTAA -3'

Sequencing Primer
(F):5'- TGAAGCAGCCCATGAAAGAAATATTC -3'
(R):5'- TTGTACCTTGTTTCTCTTTGAAAATG -3'
Posted On 2015-10-08