Incidental Mutation 'R8066:Or10h1'
ID 620033
Institutional Source Beutler Lab
Gene Symbol Or10h1
Ensembl Gene ENSMUSG00000093884
Gene Name olfactory receptor family 10 subfamily H member 1
Synonyms Olfr239, GA_x6K02T2KN0P-2543-1596, MOR267-10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R8066 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 33418036-33418983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33418126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 35 (F35L)
Ref Sequence ENSEMBL: ENSMUSP00000154277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112165] [ENSMUST00000213731] [ENSMUST00000214406]
AlphaFold A0A2I3BQR4
Predicted Effect probably benign
Transcript: ENSMUST00000112165
AA Change: F31L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129451
Gene: ENSMUSG00000093884
AA Change: F31L

DomainStartEndE-ValueType
Pfam:7tm_4 31 309 1.7e-53 PFAM
Pfam:7tm_1 41 305 2.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213731
AA Change: F35L

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000214406
AA Change: F31L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,780,689 (GRCm39) V177A probably benign Het
Acsm2 C A 7: 119,190,548 (GRCm39) T517K probably damaging Het
Adam29 T G 8: 56,325,703 (GRCm39) L250F probably benign Het
Ankrd37 T C 8: 46,450,726 (GRCm39) D135G probably benign Het
Armh4 T C 14: 50,005,980 (GRCm39) T572A possibly damaging Het
Aspa T C 11: 73,204,372 (GRCm39) K199E possibly damaging Het
Aurka A T 2: 172,212,338 (GRCm39) I13K probably benign Het
Bag6 A G 17: 35,361,283 (GRCm39) D446G unknown Het
Bcar3 A T 3: 122,318,573 (GRCm39) I654F probably damaging Het
Ccdc188 A T 16: 18,037,058 (GRCm39) N210Y probably damaging Het
Ccdc25 A T 14: 66,083,751 (GRCm39) D28V possibly damaging Het
Ccn5 G T 2: 163,670,862 (GRCm39) C123F probably damaging Het
Cdc37 C T 9: 21,054,437 (GRCm39) E63K probably benign Het
Chrm4 T A 2: 91,758,042 (GRCm39) L150H probably damaging Het
Col5a2 A T 1: 45,452,628 (GRCm39) probably null Het
Ctr9 T A 7: 110,633,104 (GRCm39) Y117* probably null Het
Cyp4f37 C A 17: 32,854,047 (GRCm39) R499S probably benign Het
Egr4 T C 6: 85,489,277 (GRCm39) Y261C probably damaging Het
Fanca A T 8: 124,030,679 (GRCm39) C468S unknown Het
Gart T C 16: 91,436,335 (GRCm39) N141D probably benign Het
Get4 G A 5: 139,249,293 (GRCm39) V126M probably damaging Het
Gja3 T C 14: 57,273,263 (GRCm39) S370G probably benign Het
Gopc T C 10: 52,230,812 (GRCm39) K162R probably benign Het
Grpel1 A G 5: 36,626,889 (GRCm39) D57G probably benign Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Kcnma1 A G 14: 23,361,744 (GRCm39) L1149P probably benign Het
Lmbrd2 G A 15: 9,172,172 (GRCm39) R322Q probably benign Het
Lrrc59 T C 11: 94,525,426 (GRCm39) L74P possibly damaging Het
Mcam G T 9: 44,052,257 (GRCm39) K589N probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nrap A T 19: 56,342,562 (GRCm39) L813Q possibly damaging Het
Oga T C 19: 45,760,291 (GRCm39) K289R probably damaging Het
Or14a260 A T 7: 85,985,014 (GRCm39) C197S probably benign Het
Or52b1 C T 7: 104,978,761 (GRCm39) V213I possibly damaging Het
Pcdhga8 A T 18: 37,859,435 (GRCm39) I164L probably benign Het
Pck2 C A 14: 55,781,858 (GRCm39) P251H probably benign Het
Phip A T 9: 82,757,351 (GRCm39) I1607K probably benign Het
Piwil2 T C 14: 70,658,168 (GRCm39) T220A probably benign Het
Plch1 G A 3: 63,618,478 (GRCm39) Q686* probably null Het
Pnpla2 A G 7: 141,039,581 (GRCm39) *487W probably null Het
Prdm14 C A 1: 13,184,540 (GRCm39) G544C probably benign Het
Psg22 A G 7: 18,452,218 (GRCm39) E45G possibly damaging Het
Psmb5 T C 14: 54,851,698 (GRCm39) D249G probably benign Het
Pstpip1 A G 9: 56,033,913 (GRCm39) I296V probably benign Het
S1pr3 T A 13: 51,573,955 (GRCm39) *379R probably null Het
Smc3 G A 19: 53,603,576 (GRCm39) R57H probably damaging Het
Spata31g1 C A 4: 42,971,929 (GRCm39) Q421K possibly damaging Het
Srcap T A 7: 127,139,484 (GRCm39) H1268Q possibly damaging Het
Srcap C T 7: 127,120,804 (GRCm39) R155C probably damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Svep1 A G 4: 58,113,650 (GRCm39) V999A probably benign Het
Tchp T A 5: 114,847,472 (GRCm39) L97Q probably benign Het
Tex46 G A 4: 136,340,265 (GRCm39) V117M probably benign Het
Tnnc2 T A 2: 164,619,661 (GRCm39) I102F possibly damaging Het
Trbv5 T A 6: 41,039,326 (GRCm39) C12S probably damaging Het
Trub2 T A 2: 29,667,867 (GRCm39) T258S possibly damaging Het
Uba3 T A 6: 97,178,882 (GRCm39) N87I probably damaging Het
Vmn1r160 A T 7: 22,571,315 (GRCm39) I223F probably damaging Het
Vmn1r192 G T 13: 22,371,565 (GRCm39) Y218* probably null Het
Vmn1r8 A G 6: 57,013,419 (GRCm39) M157V probably benign Het
Vps53 T C 11: 76,027,133 (GRCm39) E127G probably damaging Het
Vsig10 G T 5: 117,489,849 (GRCm39) E538D probably benign Het
Zfp647 A T 15: 76,796,095 (GRCm39) H188Q probably damaging Het
Other mutations in Or10h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Or10h1 APN 17 33,418,534 (GRCm39) missense probably benign 0.02
R0279:Or10h1 UTSW 17 33,418,298 (GRCm39) missense probably benign 0.03
R1642:Or10h1 UTSW 17 33,418,430 (GRCm39) missense probably damaging 1.00
R4679:Or10h1 UTSW 17 33,418,367 (GRCm39) missense probably benign 0.16
R5022:Or10h1 UTSW 17 33,418,751 (GRCm39) missense probably damaging 1.00
R5247:Or10h1 UTSW 17 33,418,504 (GRCm39) missense probably benign 0.06
R6394:Or10h1 UTSW 17 33,418,487 (GRCm39) missense probably damaging 1.00
R6463:Or10h1 UTSW 17 33,418,612 (GRCm39) missense probably benign 0.04
R7665:Or10h1 UTSW 17 33,418,603 (GRCm39) nonsense probably null
R7791:Or10h1 UTSW 17 33,418,326 (GRCm39) nonsense probably null
R8000:Or10h1 UTSW 17 33,418,321 (GRCm39) missense probably damaging 1.00
R8899:Or10h1 UTSW 17 33,418,718 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTACCCTACATGAGCAAC -3'
(R):5'- AGAGCAGGTCAGCCAACATG -3'

Sequencing Primer
(F):5'- ACAGGCAATGGAGGTCACCC -3'
(R):5'- TCAGCCAACATGCGTGG -3'
Posted On 2020-01-23