Incidental Mutation 'R8000:Or10h1'
ID 616341
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
MMRRC Submission 046040-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8000 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 33418036-33418983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 33418321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 100 (A100P)
Ref Sequence ENSEMBL: ENSMUSP00000154277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112165] [ENSMUST00000213731] [ENSMUST00000214406]
AlphaFold A0A2I3BQR4
Predicted Effect probably damaging
Transcript: ENSMUST00000112165
AA Change: A96P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129451
Gene: ENSMUSG00000093884
AA Change: A96P

DomainStartEndE-ValueType
Pfam:7tm_4 31 309 1.7e-53 PFAM
Pfam:7tm_1 41 305 2.9e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213731
AA Change: A100P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214406
AA Change: A96P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,924,796 (GRCm39) K121R possibly damaging Het
Acaca A G 11: 84,283,057 (GRCm39) K2208E possibly damaging Het
Actn1 A G 12: 80,245,782 (GRCm39) F134L probably damaging Het
Akt3 A T 1: 176,877,763 (GRCm39) V335D probably damaging Het
Arhgef10 T G 8: 14,980,054 (GRCm39) I98S probably damaging Het
Celf4 T C 18: 25,637,574 (GRCm39) N209S probably benign Het
Col4a4 G A 1: 82,519,018 (GRCm39) P59L unknown Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dock4 T A 12: 40,883,118 (GRCm39) L1642I probably benign Het
Fads2b A G 2: 85,349,070 (GRCm39) V14A probably benign Het
Fap A G 2: 62,333,142 (GRCm39) probably null Het
Fbh1 A T 2: 11,772,100 (GRCm39) Y194N probably benign Het
Fras1 A G 5: 96,910,536 (GRCm39) T3322A probably damaging Het
Frey1 A G 2: 92,215,872 (GRCm39) K69E unknown Het
Gabra4 A G 5: 71,781,304 (GRCm39) F369S probably damaging Het
Igkv9-124 T A 6: 67,919,136 (GRCm39) D92V probably damaging Het
Kcna6 C A 6: 126,715,948 (GRCm39) E314* probably null Het
Kyat1 A C 2: 30,082,065 (GRCm39) S25A probably benign Het
Lars2 G A 9: 123,265,309 (GRCm39) G455D probably damaging Het
Mertk A G 2: 128,613,418 (GRCm39) H478R probably benign Het
Mier1 A T 4: 102,988,240 (GRCm39) T83S probably damaging Het
Mmp1a C A 9: 7,476,215 (GRCm39) H437Q probably benign Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Neb G T 2: 52,178,856 (GRCm39) A1300D probably damaging Het
Nell2 T A 15: 95,333,155 (GRCm39) L167F probably damaging Het
Or12j2 T A 7: 139,916,255 (GRCm39) M160K possibly damaging Het
Or4d10c T C 19: 12,065,358 (GRCm39) D266G probably damaging Het
Pald1 T C 10: 61,183,218 (GRCm39) T339A probably benign Het
Pex13 A C 11: 23,605,915 (GRCm39) L105W probably damaging Het
Prxl2a A C 14: 40,716,483 (GRCm39) *230G probably null Het
Ptprd A C 4: 75,984,479 (GRCm39) F556V possibly damaging Het
Rgp1 T A 4: 43,581,664 (GRCm39) C314S probably benign Het
Rnaseh2a G A 8: 85,692,678 (GRCm39) probably benign Het
Rpl7 A T 1: 16,172,949 (GRCm39) M154K probably benign Het
Samd9l A T 6: 3,373,034 (GRCm39) L1409Q probably damaging Het
Slc35f3 A G 8: 127,047,812 (GRCm39) T51A probably benign Het
Slc7a10 A G 7: 34,899,865 (GRCm39) Y76C Het
Slk G T 19: 47,597,344 (GRCm39) A51S Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Stk38 A T 17: 29,211,422 (GRCm39) V51E probably benign Het
Tecta A T 9: 42,278,480 (GRCm39) C1009* probably null Het
Vmn1r228 A T 17: 20,997,227 (GRCm39) M97K possibly damaging Het
Xpo4 T C 14: 57,827,403 (GRCm39) D931G probably damaging Het
Zfp503 T C 14: 22,036,227 (GRCm39) T230A possibly 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
R8066:Or10h1 UTSW 17 33,418,126 (GRCm39) missense probably benign 0.34
R8899:Or10h1 UTSW 17 33,418,718 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGATGTTCTTCCTGCTG -3'
(R):5'- ACTGTCCCCATGAATGATCCAC -3'

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