Incidental Mutation 'R6372:Or8h8'
ID 513557
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 044522-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R6372 (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 A at 86753499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 126 (I126F)
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: I126F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097457
Gene: ENSMUSG00000075169
AA Change: I126F

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: I126F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107200
Gene: ENSMUSG00000075169
AA Change: I126F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.8e-52 PFAM
Pfam:7tm_1 41 309 8.1e-20 PFAM
Meta Mutation Damage Score 0.1859 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 97% (59/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T A 10: 87,066,088 (GRCm39) H136Q possibly damaging Het
Aim2 T A 1: 173,282,802 (GRCm39) probably null Het
Atp13a3 T C 16: 30,162,273 (GRCm39) H696R probably damaging Het
Atrnl1 T C 19: 57,638,764 (GRCm39) S301P probably benign Het
Atxn1 T A 13: 45,710,932 (GRCm39) I667F probably damaging Het
Cacnb4 T A 2: 52,324,679 (GRCm39) Y415F probably benign Het
Ccdc183 T C 2: 25,506,176 (GRCm39) D140G probably benign Het
Clec2g A C 6: 128,925,726 (GRCm39) H45P probably benign Het
Col5a3 A G 9: 20,696,882 (GRCm39) V917A probably damaging Het
Cryga T C 1: 65,142,204 (GRCm39) Y63C probably damaging Het
Dnajc28 T C 16: 91,414,176 (GRCm39) I23V probably benign Het
Elovl6 T C 3: 129,426,751 (GRCm39) F139S probably damaging Het
Fcgbp A G 7: 27,806,433 (GRCm39) T2134A probably damaging Het
Fcrl5 C T 3: 87,351,501 (GRCm39) Q250* probably null Het
Gimap1 T A 6: 48,720,290 (GRCm39) *301K probably null Het
Gm17472 T C 6: 42,957,823 (GRCm39) S31P possibly damaging Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gnl1 T C 17: 36,293,427 (GRCm39) F204S probably damaging Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hk1 T C 10: 62,127,757 (GRCm39) H370R probably benign Het
Ighv7-2 G A 12: 113,876,075 (GRCm39) T10I probably benign Het
Itga9 A G 9: 118,726,389 (GRCm39) K448E probably damaging Het
Lama4 C A 10: 38,943,948 (GRCm39) N750K probably benign Het
Megf11 T C 9: 64,613,907 (GRCm39) Y1077H probably damaging Het
Mrpl45 T C 11: 97,212,388 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,457,812 (GRCm39) D2185G possibly damaging Het
Ncoa3 C T 2: 165,901,267 (GRCm39) S953F possibly damaging Het
Nlrc5 T C 8: 95,206,378 (GRCm39) L743P probably damaging Het
Nol4 A G 18: 23,171,613 (GRCm39) probably null Het
Nol9 T C 4: 152,130,452 (GRCm39) S329P probably damaging Het
Ntrk1 T C 3: 87,693,355 (GRCm39) D259G probably benign Het
Or2y11 A G 11: 49,442,757 (GRCm39) Y61C probably damaging Het
Or4k40 T A 2: 111,251,147 (GRCm39) I50F probably benign Het
Or5al5 T C 2: 85,961,198 (GRCm39) T270A possibly damaging Het
Or5d16 T C 2: 87,773,319 (GRCm39) T218A probably benign Het
Pbx4 C A 8: 70,324,694 (GRCm39) A365E possibly damaging Het
Pcdhb19 T A 18: 37,630,419 (GRCm39) N71K probably benign Het
Pde2a G A 7: 101,130,599 (GRCm39) A80T probably benign Het
Psmb5 C A 14: 54,854,130 (GRCm39) R116L probably damaging Het
Recql A G 6: 142,322,566 (GRCm39) V112A probably damaging Het
Rhbdl3 C A 11: 80,221,482 (GRCm39) L207I probably damaging Het
Rtkn A G 6: 83,128,882 (GRCm39) D459G possibly damaging Het
Rubcnl C A 14: 75,285,009 (GRCm39) S509R probably damaging Het
Slc26a8 T C 17: 28,863,777 (GRCm39) T661A probably benign Het
Sspo A T 6: 48,449,475 (GRCm39) D2472V probably damaging Het
Taf4b T G 18: 14,937,790 (GRCm39) V258G probably damaging Het
Tbc1d19 T G 5: 54,014,252 (GRCm39) S293R possibly damaging Het
Tecpr1 C T 5: 144,153,776 (GRCm39) R159Q probably damaging Het
Tlr3 A G 8: 45,850,048 (GRCm39) S874P probably damaging Het
Tnk2 T A 16: 32,498,603 (GRCm39) W639R probably damaging Het
Tpmt C T 13: 47,189,370 (GRCm39) probably null Het
Trappc9 T A 15: 72,461,923 (GRCm39) D935V possibly damaging Het
Trav13d-4 T C 14: 53,995,118 (GRCm39) V4A probably damaging Het
Ubn1 C T 16: 4,899,502 (GRCm39) T1082I possibly damaging Het
Usf2 G A 7: 30,654,738 (GRCm39) Q35* probably null Het
Vmn1r57 T C 7: 5,223,826 (GRCm39) M117T possibly damaging Het
Vmn2r65 G T 7: 84,589,861 (GRCm39) A685E probably damaging Het
Vxn G A 1: 9,683,546 (GRCm39) E45K probably damaging Het
Zeb2 T C 2: 44,892,551 (GRCm39) E166G probably damaging Het
Zfp808 T C 13: 62,320,291 (GRCm39) S507P 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
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
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'- CAGAGCTAAAATTGGGAATGTGTC -3'
(R):5'- AGATGTCCAGCTCCACACTC -3'

Sequencing Primer
(F):5'- TCACAAAAGAAGTGATGAATTACCG -3'
(R):5'- GTCCAGCTCCACACTCCGATG -3'
Posted On 2018-04-27