Incidental Mutation 'R0117:Or8h8'
ID 20859
Institutional Source Beutler Lab
Gene Symbol Or8h8
Ensembl Gene ENSMUSG00000075169
Gene Name olfactory receptor family 8 subfamily H member 8
Synonyms MOR206-1, Olfr1098, GA_x6K02T2Q125-48410458-48409511
MMRRC Submission 038403-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R0117 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 86752927-86753874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86753214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 221 (I221F)
Ref Sequence ENSEMBL: ENSMUSP00000107200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099872] [ENSMUST00000111574]
AlphaFold A2AVB0
Predicted Effect probably damaging
Transcript: ENSMUST00000099872
AA Change: I221F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097457
Gene: ENSMUSG00000075169
AA Change: I221F

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 7e-29 PFAM
Pfam:7tm_4 140 283 3.3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111574
AA Change: I221F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107200
Gene: ENSMUSG00000075169
AA Change: I221F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.8e-52 PFAM
Pfam:7tm_1 41 309 8.1e-20 PFAM
Meta Mutation Damage Score 0.4446 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.1%
Validation Efficiency 95% (59/62)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 A T 17: 33,999,776 (GRCm39) I141K probably damaging Het
Bbs10 T A 10: 111,135,194 (GRCm39) D102E possibly damaging Het
Btaf1 A G 19: 36,947,368 (GRCm39) T486A probably benign Het
Casp8ap2 A G 4: 32,640,817 (GRCm39) T624A probably benign Het
Cep192 T C 18: 67,983,808 (GRCm39) probably null Het
Cep76 T C 18: 67,759,744 (GRCm39) Y323C possibly damaging Het
CK137956 T A 4: 127,840,585 (GRCm39) T374S possibly damaging Het
Cyp2b23 A T 7: 26,372,539 (GRCm39) F359I probably benign Het
Cyp4f13 G T 17: 33,149,580 (GRCm39) H194Q probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dscam T C 16: 96,474,878 (GRCm39) H1228R probably benign Het
Eps15 T A 4: 109,240,016 (GRCm39) D667E probably damaging Het
Fig4 G A 10: 41,106,037 (GRCm39) R716* probably null Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Gmpr T A 13: 45,670,560 (GRCm39) probably null Het
Gsta5 C T 9: 78,211,700 (GRCm39) T154I probably damaging Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc2 C A 7: 55,863,359 (GRCm39) probably benign Het
Htr2a G A 14: 74,882,533 (GRCm39) R173H probably damaging Het
Impg2 A G 16: 56,082,005 (GRCm39) N979S probably damaging Het
Kcna2 A G 3: 107,012,670 (GRCm39) Y417C probably damaging Het
Lmf1 G T 17: 25,874,965 (GRCm39) probably benign Het
Lmntd2 G A 7: 140,790,036 (GRCm39) R659C possibly damaging Het
Mcm9 A G 10: 53,413,832 (GRCm39) V416A possibly damaging Het
Mgarp G T 3: 51,304,133 (GRCm39) probably benign Het
Mpp3 G A 11: 101,891,399 (GRCm39) P580S probably damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Ninl G A 2: 150,779,593 (GRCm39) R269W probably damaging Het
Or7e170 T C 9: 19,795,595 (GRCm39) E2G probably damaging Het
Or8g19 T A 9: 39,056,146 (GRCm39) I250N probably damaging Het
Pcnt A T 10: 76,244,561 (GRCm39) L1173* probably null Het
Pde6c A G 19: 38,139,979 (GRCm39) E314G probably damaging Het
Peds1 A G 2: 167,486,678 (GRCm39) probably benign Het
Phldb1 T C 9: 44,623,003 (GRCm39) M1V probably null Het
Pkdrej T A 15: 85,700,300 (GRCm39) probably null Het
Plch2 T A 4: 155,069,815 (GRCm39) probably benign Het
Pld2 G A 11: 70,448,214 (GRCm39) R887Q probably benign Het
Plxnb1 A G 9: 108,934,286 (GRCm39) D838G possibly damaging Het
Postn C T 3: 54,290,902 (GRCm39) probably benign Het
Prl8a8 T A 13: 27,692,473 (GRCm39) I172F probably damaging Het
Psmc4 A T 7: 27,742,165 (GRCm39) probably benign Het
Rabgap1 T A 2: 37,451,897 (GRCm39) probably null Het
Rapgef2 A G 3: 78,986,484 (GRCm39) S1017P probably benign Het
Rbak G T 5: 143,159,387 (GRCm39) Y555* probably null Het
Serpina1c T G 12: 103,861,271 (GRCm39) *414C probably null Het
Sntb1 A G 15: 55,769,749 (GRCm39) V80A probably benign Het
Sorl1 A G 9: 41,944,873 (GRCm39) V884A probably benign Het
Stmnd1 C A 13: 46,438,962 (GRCm39) Q65K possibly damaging Het
Tgm5 C T 2: 120,905,583 (GRCm39) probably null Het
Tubb1 T C 2: 174,299,577 (GRCm39) S420P probably benign Het
Tvp23b T C 11: 62,770,430 (GRCm39) probably benign Het
Xirp2 C T 2: 67,347,464 (GRCm39) A3235V possibly damaging Het
Zc3h15 T C 2: 83,488,427 (GRCm39) S122P possibly damaging Het
Other mutations in Or8h8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Or8h8 APN 2 86,753,293 (GRCm39) missense probably benign
IGL02547:Or8h8 APN 2 86,753,372 (GRCm39) missense probably damaging 1.00
IGL02881:Or8h8 APN 2 86,753,057 (GRCm39) missense possibly damaging 0.94
IGL03073:Or8h8 APN 2 86,753,697 (GRCm39) missense probably damaging 1.00
R0808:Or8h8 UTSW 2 86,753,795 (GRCm39) missense probably damaging 1.00
R1061:Or8h8 UTSW 2 86,753,126 (GRCm39) missense possibly damaging 0.93
R1471:Or8h8 UTSW 2 86,752,922 (GRCm39) splice site probably null
R1571:Or8h8 UTSW 2 86,753,789 (GRCm39) missense probably benign 0.01
R1680:Or8h8 UTSW 2 86,753,505 (GRCm39) missense probably benign 0.10
R2341:Or8h8 UTSW 2 86,752,982 (GRCm39) missense possibly damaging 0.63
R2368:Or8h8 UTSW 2 86,753,451 (GRCm39) missense probably benign
R3158:Or8h8 UTSW 2 86,752,950 (GRCm39) missense probably benign
R3425:Or8h8 UTSW 2 86,752,950 (GRCm39) missense probably benign
R3499:Or8h8 UTSW 2 86,753,373 (GRCm39) missense possibly damaging 0.94
R4156:Or8h8 UTSW 2 86,753,222 (GRCm39) missense probably damaging 1.00
R4526:Or8h8 UTSW 2 86,753,339 (GRCm39) missense possibly damaging 0.90
R5743:Or8h8 UTSW 2 86,753,549 (GRCm39) missense probably benign 0.01
R5942:Or8h8 UTSW 2 86,753,750 (GRCm39) missense probably damaging 1.00
R6372:Or8h8 UTSW 2 86,753,499 (GRCm39) missense probably damaging 1.00
R6409:Or8h8 UTSW 2 86,753,515 (GRCm39) nonsense probably null
R6517:Or8h8 UTSW 2 86,753,441 (GRCm39) missense probably benign 0.05
R6661:Or8h8 UTSW 2 86,753,492 (GRCm39) missense probably benign 0.02
R7075:Or8h8 UTSW 2 86,752,990 (GRCm39) missense possibly damaging 0.88
R7166:Or8h8 UTSW 2 86,753,092 (GRCm39) missense probably damaging 0.97
R8058:Or8h8 UTSW 2 86,753,151 (GRCm39) missense probably benign 0.32
R8234:Or8h8 UTSW 2 86,753,313 (GRCm39) missense probably damaging 1.00
R9115:Or8h8 UTSW 2 86,752,998 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTTGTGCCAAGAGCAAAGCTGAAG -3'
(R):5'- GCACACTGGATTTCTGCAACTCCAC -3'

Sequencing Primer
(F):5'- TGGGTTCAGCATGGGAATCAC -3'
(R):5'- TGCAACTCCACGGTAATTCATC -3'
Posted On 2013-04-11