Incidental Mutation 'R1642:Or10h1'
ID 173641
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 039678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R1642 (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 33418430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 132 (Y132C)
Ref Sequence ENSEMBL: ENSMUSP00000150882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112165] [ENSMUST00000213731] [ENSMUST00000214406]
AlphaFold A0A2I3BQR4
Predicted Effect probably damaging
Transcript: ENSMUST00000112165
AA Change: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129451
Gene: ENSMUSG00000093884
AA Change: Y132C

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: Y136C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214406
AA Change: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.7%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A G 10: 28,862,233 (GRCm39) V19A probably benign Het
6820408C15Rik T C 2: 152,282,774 (GRCm39) Y210H probably damaging Het
Aars1 T A 8: 111,769,882 (GRCm39) I327N possibly damaging Het
Abca6 T A 11: 110,109,107 (GRCm39) N688Y possibly damaging Het
Ablim3 T C 18: 61,947,382 (GRCm39) K457R probably benign Het
Acsm2 A T 7: 119,162,860 (GRCm39) N45Y probably damaging Het
Agxt2 T C 15: 10,373,917 (GRCm39) S108P probably damaging Het
Akr1cl A T 1: 65,060,588 (GRCm39) M174K probably benign Het
Armh4 T C 14: 50,005,867 (GRCm39) probably null Het
Bfsp1 G A 2: 143,683,683 (GRCm39) R214W probably damaging Het
Cby3 A G 11: 50,250,343 (GRCm39) D183G probably damaging Het
Clip2 T C 5: 134,532,107 (GRCm39) D566G possibly damaging Het
Colgalt1 A G 8: 72,073,401 (GRCm39) I341V probably benign Het
Cyp2c38 T A 19: 39,390,153 (GRCm39) D349V probably damaging Het
Cyp3a16 T A 5: 145,406,399 (GRCm39) I18F unknown Het
Degs2 C T 12: 108,658,451 (GRCm39) C176Y probably benign Het
Dhx16 A T 17: 36,201,957 (GRCm39) T995S probably damaging Het
Dicer1 A T 12: 104,679,415 (GRCm39) C521S probably damaging Het
Dop1b T C 16: 93,559,203 (GRCm39) S532P probably benign Het
Dpysl4 T G 7: 138,670,254 (GRCm39) M124R probably damaging Het
Eml6 A G 11: 29,727,001 (GRCm39) probably null Het
Erbb4 A T 1: 68,370,393 (GRCm39) V395D probably damaging Het
Esf1 T C 2: 140,000,406 (GRCm39) D460G possibly damaging Het
F830045P16Rik G A 2: 129,305,634 (GRCm39) H247Y probably benign Het
Fsbp T A 4: 11,583,965 (GRCm39) S221R probably benign Het
Fstl5 T A 3: 76,317,929 (GRCm39) N198K possibly damaging Het
Gemin5 G T 11: 58,029,906 (GRCm39) H855Q probably damaging Het
Gjd3 T C 11: 98,873,535 (GRCm39) E103G probably benign Het
I0C0044D17Rik A G 4: 98,708,471 (GRCm39) probably benign Het
Iqca1l C A 5: 24,757,686 (GRCm39) R177L probably damaging Het
Itgb4 A T 11: 115,898,183 (GRCm39) R1646W probably damaging Het
Klri2 A T 6: 129,715,837 (GRCm39) C121S probably benign Het
Lamc3 A G 2: 31,806,008 (GRCm39) Y703C probably damaging Het
Lrrc10 A G 10: 116,881,788 (GRCm39) N154S probably damaging Het
Lrriq1 A G 10: 103,050,317 (GRCm39) F812L probably benign Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nav1 T C 1: 135,380,010 (GRCm39) Y1564C probably damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Neurl4 A G 11: 69,794,485 (GRCm39) M23V probably benign Het
Nnt A G 13: 119,541,086 (GRCm39) probably null Het
Nolc1 G C 19: 46,067,461 (GRCm39) probably null Het
Nrg1 A T 8: 32,314,536 (GRCm39) M289K probably benign Het
Oas3 G T 5: 120,915,639 (GRCm39) H17Q possibly damaging Het
Or2z2 A G 11: 58,346,664 (GRCm39) I37T probably benign Het
Or5m5 A G 2: 85,814,201 (GRCm39) K6E probably benign Het
Or8g36 C T 9: 39,422,650 (GRCm39) R122H possibly damaging Het
Parp9 T C 16: 35,788,067 (GRCm39) Y612H probably benign Het
Pcdh1 A T 18: 38,332,283 (GRCm39) M240K possibly damaging Het
Pcdhb9 A G 18: 37,533,987 (GRCm39) probably benign Het
Plpp2 A G 10: 79,366,518 (GRCm39) V42A probably damaging Het
Ppic C T 18: 53,540,134 (GRCm39) V172M probably damaging Het
Ppp1r9b A G 11: 94,892,150 (GRCm39) silent Het
Prop1 A G 11: 50,844,152 (GRCm39) V27A possibly damaging Het
Psmc5 A G 11: 106,153,242 (GRCm39) T295A probably benign Het
Rpa1 A G 11: 75,203,517 (GRCm39) probably null Het
Rrp12 A G 19: 41,860,176 (GRCm39) F1016L probably damaging Het
Scn2a A T 2: 65,514,041 (GRCm39) I242F probably damaging Het
Slco1a6 T A 6: 142,032,160 (GRCm39) H655L probably benign Het
Sp140 G A 1: 85,538,545 (GRCm39) probably null Het
Syne1 A G 10: 5,298,694 (GRCm39) I1071T possibly damaging Het
Tbc1d9b A G 11: 50,040,659 (GRCm39) D392G probably damaging Het
Tcaim G A 9: 122,647,838 (GRCm39) probably null Het
Tgm3 T A 2: 129,889,702 (GRCm39) V632E probably damaging Het
Triobp C A 15: 78,886,348 (GRCm39) R1830S probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vps8 A G 16: 21,400,329 (GRCm39) T1266A probably benign Het
Znfx1 T C 2: 166,880,930 (GRCm39) I285V 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
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
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'- TGCCATCATCCCACGCATGTTG -3'
(R):5'- TGCCCATCAGAGTATCTCCTTCCAG -3'

Sequencing Primer
(F):5'- GGCTGACCTGCTCTCCAC -3'
(R):5'- AGAGTATCTCCTTCCAGAGACTTG -3'
Posted On 2014-04-24