Incidental Mutation 'R5247:Or10h1'
ID 401213
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 042818-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R5247 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 33418036-33418983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33418504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 161 (T161A)
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: T157A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000129451
Gene: ENSMUSG00000093884
AA Change: T157A

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: T161A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000214406
AA Change: T157A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A T 1: 72,719,343 (GRCm39) V502E probably benign Het
Atad2 A T 15: 57,967,874 (GRCm39) L585* probably null Het
Atp6v0a2 T C 5: 124,790,241 (GRCm39) S475P probably damaging Het
Cacng1 T C 11: 107,607,105 (GRCm39) H38R probably benign Het
Ccdc168 A C 1: 44,096,166 (GRCm39) L1644* probably null Het
Celsr2 A G 3: 108,304,946 (GRCm39) V2168A probably benign Het
Cnot4 C T 6: 35,028,351 (GRCm39) V422I probably damaging Het
Col1a1 T C 11: 94,838,013 (GRCm39) probably null Het
Cspg4b A T 13: 113,455,993 (GRCm39) I680F probably damaging Het
Ctcfl A T 2: 172,955,402 (GRCm39) C287S probably damaging Het
Eps8l1 T A 7: 4,473,401 (GRCm39) D133E probably damaging Het
Fam161b A G 12: 84,404,524 (GRCm39) L52P probably damaging Het
Fam98c T C 7: 28,855,126 (GRCm39) E99G possibly damaging Het
Fmn2 A T 1: 174,648,794 (GRCm39) I1574L probably benign Het
Gabrb3 T A 7: 57,240,339 (GRCm39) L8Q possibly damaging Het
Hck A T 2: 152,976,615 (GRCm39) K250* probably null Het
Herc1 A G 9: 66,341,833 (GRCm39) E1874G probably benign Het
Igf2 G T 7: 142,207,668 (GRCm39) A143D possibly damaging Het
Isg20l2 A G 3: 87,838,920 (GRCm39) N44D possibly damaging Het
Kdm7a T A 6: 39,121,390 (GRCm39) Q855L probably benign Het
Kif15 T C 9: 122,815,507 (GRCm39) S434P possibly damaging Het
Klrc3 A T 6: 129,618,425 (GRCm39) N119K probably damaging Het
L3mbtl3 T C 10: 26,203,706 (GRCm39) M375V unknown Het
Lpcat4 A G 2: 112,072,860 (GRCm39) H173R possibly damaging Het
Mapk13 A T 17: 28,996,725 (GRCm39) Q264L probably benign Het
Mrps18c C G 5: 100,946,659 (GRCm39) C8W probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nlrp4b T A 7: 10,448,145 (GRCm39) I116N probably benign Het
Or5b124 T A 19: 13,610,778 (GRCm39) F101Y probably damaging Het
Prdm1 A T 10: 44,316,098 (GRCm39) H679Q probably damaging Het
Prickle2 T A 6: 92,352,950 (GRCm39) S839C probably damaging Het
Rps19 T A 7: 24,584,878 (GRCm39) S36T probably damaging Het
Serpinb1a T A 13: 33,034,389 (GRCm39) M1L probably damaging Het
Slc16a7 A T 10: 125,067,183 (GRCm39) M152K probably damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Stx18 A T 5: 38,263,977 (GRCm39) Y141F probably damaging Het
Tgfb2 A T 1: 186,382,111 (GRCm39) probably null Het
Tle7 T C 8: 110,837,209 (GRCm39) F299S probably damaging Het
Tmem151b A T 17: 45,856,571 (GRCm39) Y290N probably damaging Het
Ttn G A 2: 76,558,766 (GRCm39) T29705M probably damaging Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Usp19 T G 9: 108,373,264 (GRCm39) probably null 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
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
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'- GTGCCAGCCAGATGTTCTTC -3'
(R):5'- CCTCAGCTGATGGTATCTTCAAG -3'

Sequencing Primer
(F):5'- AGATGTTCTTCTCCTTCACATTTGG -3'
(R):5'- GCTGATGGTATCTTCAAGATGGTAAC -3'
Posted On 2016-07-06