Incidental Mutation 'R1061:Or8h8'
ID 94433
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 039147-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R1061 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86752927-86753874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86753126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 250 (V250D)
Ref Sequence ENSEMBL: ENSMUSP00000107200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099872] [ENSMUST00000111574]
AlphaFold A2AVB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000099872
AA Change: V250D

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097457
Gene: ENSMUSG00000075169
AA Change: V250D

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 7e-29 PFAM
Pfam:7tm_4 140 283 3.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111574
AA Change: V250D

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107200
Gene: ENSMUSG00000075169
AA Change: V250D

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.8e-52 PFAM
Pfam:7tm_1 41 309 8.1e-20 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,108,153 (GRCm39) A715T probably benign Het
Ampd2 A G 3: 107,983,005 (GRCm39) Y641H probably damaging Het
Aqp4 A T 18: 15,531,248 (GRCm39) V171E probably damaging Het
Arid4a T A 12: 71,121,729 (GRCm39) S381R probably damaging Het
Armc8 T G 9: 99,419,784 (GRCm39) N51H probably damaging Het
Asic5 T A 3: 81,928,308 (GRCm39) Y424N probably damaging Het
Bcl11a A T 11: 24,114,069 (GRCm39) K471* probably null Het
Birc6 A G 17: 74,996,307 (GRCm39) T4494A probably damaging Het
Btbd9 A G 17: 30,746,409 (GRCm39) I139T probably benign Het
Ccdc60 C A 5: 116,310,527 (GRCm39) R178S possibly damaging Het
Cd163 C T 6: 124,286,128 (GRCm39) A226V probably benign Het
Cibar2 C A 8: 120,896,443 (GRCm39) probably null Het
Cog1 T G 11: 113,542,863 (GRCm39) S170A probably benign Het
Cwc15 T C 9: 14,419,211 (GRCm39) L169P probably damaging Het
Cyp3a25 A T 5: 145,923,643 (GRCm39) D333E probably benign Het
Ddc C T 11: 11,779,132 (GRCm39) V331I probably benign Het
Dlc1 T A 8: 37,325,205 (GRCm39) T367S probably benign Het
Dnah17 T C 11: 117,943,514 (GRCm39) D3183G possibly damaging Het
Eif2a T A 3: 58,452,486 (GRCm39) Y165* probably null Het
Eml6 T C 11: 29,727,267 (GRCm39) D1285G probably damaging Het
Fasn T C 11: 120,713,008 (GRCm39) probably null Het
Fbn1 T C 2: 125,187,883 (GRCm39) T1549A probably benign Het
Fezf2 T C 14: 12,342,713 (GRCm38) Y384C probably damaging Het
Flvcr1 A T 1: 190,740,370 (GRCm39) V550E probably benign Het
Gcm2 A G 13: 41,259,347 (GRCm39) W41R probably damaging Het
Gli2 A T 1: 118,782,247 (GRCm39) M160K possibly damaging Het
Gpr61 C T 3: 108,057,623 (GRCm39) R346H probably damaging Het
Hoxa5 A T 6: 52,181,135 (GRCm39) S66T probably benign Het
Hsph1 A T 5: 149,541,883 (GRCm39) V781D possibly damaging Het
Kdm3b G A 18: 34,929,915 (GRCm39) V220M probably damaging Het
Klhl25 T A 7: 75,516,268 (GRCm39) Y391* probably null Het
Mc2r A T 18: 68,540,880 (GRCm39) Y138N probably damaging Het
Mtap C A 4: 89,074,821 (GRCm39) D106E probably benign Het
Nup43 G T 10: 7,543,435 (GRCm39) W37L probably damaging Het
Nxpe2 T A 9: 48,237,663 (GRCm39) E197D probably damaging Het
Odad1 T C 7: 45,591,179 (GRCm39) I218T probably damaging Het
Or10d1c C A 9: 38,893,779 (GRCm39) C187F probably damaging Het
Or55b4 T A 7: 102,133,321 (GRCm39) *335C probably null Het
Or5p60 T C 7: 107,723,663 (GRCm39) Y269C probably damaging Het
Pitrm1 A G 13: 6,605,611 (GRCm39) H186R probably damaging Het
Pklr C T 3: 89,052,188 (GRCm39) R467C probably damaging Het
Plxna2 A G 1: 194,326,401 (GRCm39) N112D probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp3cb A C 14: 20,558,682 (GRCm39) probably null Het
R3hcc1l C T 19: 42,571,865 (GRCm39) R135* probably null Het
Ralyl A C 3: 14,180,761 (GRCm39) D68A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
S100a1 T C 3: 90,418,619 (GRCm39) N65S probably damaging Het
Scn11a A T 9: 119,624,729 (GRCm39) M531K probably damaging Het
Slc5a5 T A 8: 71,342,865 (GRCm39) M232L probably benign Het
Tet3 A T 6: 83,350,305 (GRCm39) N1054K probably damaging Het
Tg A G 15: 66,570,408 (GRCm39) N1427D probably benign Het
Tns1 A C 1: 73,956,831 (GRCm39) V530G probably damaging Het
Trcg1 C A 9: 57,153,156 (GRCm39) Q600K possibly damaging Het
Tshz3 A G 7: 36,468,131 (GRCm39) E40G probably damaging Het
Usp34 T C 11: 23,334,420 (GRCm39) F1138S possibly damaging Het
Vmn2r26 C T 6: 124,038,603 (GRCm39) T726I probably benign Het
Vmn2r97 A T 17: 19,148,440 (GRCm39) R112* probably null Het
Vwa2 G T 19: 56,897,426 (GRCm39) R577L probably benign Het
Vwa3b A C 1: 37,196,511 (GRCm39) Q46P probably damaging Het
Wdr25 T A 12: 108,958,725 (GRCm39) probably null Het
Wrap53 A G 11: 69,453,226 (GRCm39) L405P probably damaging Het
Zfp629 C A 7: 127,211,161 (GRCm39) W216L probably 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
R0117:Or8h8 UTSW 2 86,753,214 (GRCm39) missense probably damaging 1.00
R0808:Or8h8 UTSW 2 86,753,795 (GRCm39) missense probably damaging 1.00
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'- ATTTTAGTTTCTGGATGCACTCTC -3'
(R):5'- AGTGATACCTATAATGCAGAAGCC -3'
Posted On 2014-01-05