Incidental Mutation 'R6661:Or8h8'
ID 526829
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 044781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R6661 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86752927-86753874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86753492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 128 (N128S)
Ref Sequence ENSEMBL: ENSMUSP00000107200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099872] [ENSMUST00000111574]
AlphaFold A2AVB0
Predicted Effect probably benign
Transcript: ENSMUST00000099872
AA Change: N128S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000097457
Gene: ENSMUSG00000075169
AA Change: N128S

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 7e-29 PFAM
Pfam:7tm_4 140 283 3.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111574
AA Change: N128S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107200
Gene: ENSMUSG00000075169
AA Change: N128S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.8e-52 PFAM
Pfam:7tm_1 41 309 8.1e-20 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.8%
Validation Efficiency 93% (38/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amy2a1 T C 3: 113,325,363 (GRCm39) Y77C probably damaging Het
Ankrd9 C A 12: 110,944,202 (GRCm39) probably benign Het
Arhgap28 C A 17: 68,152,746 (GRCm39) W675L probably damaging Het
Arhgap44 A G 11: 64,900,834 (GRCm39) S595P probably damaging Het
Brd10 A T 19: 29,700,864 (GRCm39) H741Q possibly damaging Het
Cacna1d C A 14: 29,811,832 (GRCm39) D1273Y probably damaging Het
Ccr4 T C 9: 114,325,031 (GRCm39) probably benign Het
Celsr1 A G 15: 85,803,135 (GRCm39) V2468A probably damaging Het
Chd2 T C 7: 73,140,230 (GRCm39) E666G possibly damaging Het
Ctnnd1 C A 2: 84,439,986 (GRCm39) V775L probably damaging Het
Cux2 C A 5: 122,007,360 (GRCm39) R767L probably benign Het
Decr2 A G 17: 26,302,561 (GRCm39) L217S possibly damaging Het
Dennd4c T A 4: 86,717,626 (GRCm39) M541K possibly damaging Het
Dnah7a T C 1: 53,662,609 (GRCm39) R651G probably benign Het
Fbrsl1 A T 5: 110,525,963 (GRCm39) F80I probably damaging Het
Fmnl2 C A 2: 52,998,297 (GRCm39) P554Q probably damaging Het
Gapvd1 C T 2: 34,618,450 (GRCm39) D308N probably damaging Het
Gatb A G 3: 85,559,726 (GRCm39) probably null Het
Jcad G A 18: 4,675,256 (GRCm39) G1006D probably damaging Het
Krt1c A G 15: 101,724,398 (GRCm39) Y289H probably damaging Het
Lrrc52 A G 1: 167,293,922 (GRCm39) F121S probably damaging Het
Lrrc63 G A 14: 75,362,633 (GRCm39) T299I unknown Het
Magi1 T C 6: 93,920,289 (GRCm39) N109S probably benign Het
Mbd4 C A 6: 115,826,116 (GRCm39) E271* probably null Het
Meis2 T A 2: 115,694,751 (GRCm39) D457V probably damaging Het
Mroh8 A G 2: 157,067,547 (GRCm39) V604A probably benign Het
Nedd4 T A 9: 72,593,377 (GRCm39) V150E probably damaging Het
Nes A G 3: 87,884,243 (GRCm39) E790G probably damaging Het
Pik3c2a T C 7: 115,967,993 (GRCm39) I834V possibly damaging Het
Plxnb1 T C 9: 108,933,367 (GRCm39) C666R possibly damaging Het
Prg2 T C 2: 84,813,620 (GRCm39) probably null Het
Selenbp2 A G 3: 94,609,821 (GRCm39) D257G probably damaging Het
Slf1 T C 13: 77,191,964 (GRCm39) R957G probably damaging Het
Smim10l1 T A 6: 133,082,513 (GRCm39) M46K possibly damaging Het
Sptbn5 T C 2: 119,902,856 (GRCm39) Y50C possibly damaging Het
Tcea1 A G 1: 4,928,652 (GRCm39) probably benign Het
Tex14 A G 11: 87,385,842 (GRCm39) E234G probably damaging Het
Tmbim4 T C 10: 120,060,556 (GRCm39) V181A probably benign Het
Trappc9 A G 15: 72,461,993 (GRCm39) S1091P possibly damaging Het
Txnrd3 T A 6: 89,631,134 (GRCm39) C143* probably null Het
Ushbp1 C T 8: 71,843,305 (GRCm39) C314Y unknown 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
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
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'- GAGCTAAAATTGGGAATGTGTCAC -3'
(R):5'- CTAGATGTCCAGCTCCACAC -3'

Sequencing Primer
(F):5'- TCACAAAAGAAGTGATGAATTACCG -3'
(R):5'- GTCCAGCTCCACACTCCGATG -3'
Posted On 2018-07-23