Incidental Mutation 'R4027:Or52h9'
ID 313034
Institutional Source Beutler Lab
Gene Symbol Or52h9
Ensembl Gene ENSMUSG00000073928
Gene Name olfactory receptor family 52 subfamily H member 9
Synonyms GA_x6K02T2PBJ9-7179540-7180481, Olfr651, MOR31-11
MMRRC Submission 040850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R4027 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104202091-104203159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104202530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 135 (I135F)
Ref Sequence ENSEMBL: ENSMUSP00000150776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098176] [ENSMUST00000216904]
AlphaFold Q8VG78
Predicted Effect possibly damaging
Transcript: ENSMUST00000098176
AA Change: I135F

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095778
Gene: ENSMUSG00000073928
AA Change: I135F

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 4.1e-104 PFAM
Pfam:7TM_GPCR_Srsx 35 303 1e-10 PFAM
Pfam:7tm_1 41 292 4.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216246
Predicted Effect possibly damaging
Transcript: ENSMUST00000216904
AA Change: I135F

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (60/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,270,408 (GRCm39) F98L probably damaging Het
Adam26b T C 8: 43,973,409 (GRCm39) N531S probably benign Het
Ahdc1 T C 4: 132,791,476 (GRCm39) S906P possibly damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Ano10 A G 9: 122,081,994 (GRCm39) probably benign Het
Atp4a T C 7: 30,424,377 (GRCm39) probably null Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Carmil1 T A 13: 24,251,206 (GRCm39) probably benign Het
Ccl2 A G 11: 81,927,885 (GRCm39) R110G probably benign Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cog6 A C 3: 52,909,950 (GRCm39) D267E possibly damaging Het
Cyp4f37 G T 17: 32,850,646 (GRCm39) E366D probably benign Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dpep1 T C 8: 123,920,892 (GRCm39) V24A probably benign Het
Eefsec T C 6: 88,353,232 (GRCm39) I48V probably benign Het
Elmo2 G A 2: 165,136,169 (GRCm39) Q195* probably null Het
Ephb3 A G 16: 21,040,447 (GRCm39) D561G probably damaging Het
Erich2 C A 2: 70,343,134 (GRCm39) probably benign Het
Gatm A G 2: 122,427,927 (GRCm39) V362A probably damaging Het
Gdf10 A G 14: 33,654,572 (GRCm39) M360V probably damaging Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Hectd1 T A 12: 51,849,219 (GRCm39) probably null Het
Insrr A G 3: 87,716,906 (GRCm39) E682G probably benign Het
Itgax A G 7: 127,740,438 (GRCm39) I742V possibly damaging Het
Kcnh1 T C 1: 191,959,007 (GRCm39) V187A probably benign Het
Kdm6b G T 11: 69,297,094 (GRCm39) S419R possibly damaging Het
Kmt2a A T 9: 44,747,990 (GRCm39) probably benign Het
Krt10 A G 11: 99,277,019 (GRCm39) probably benign Het
Lct G A 1: 128,212,918 (GRCm39) R1912C probably benign Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Mast3 A G 8: 71,240,552 (GRCm39) L279P probably damaging Het
Mfsd4b3-ps T C 10: 39,823,343 (GRCm39) T306A probably benign Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mknk1 T A 4: 115,721,758 (GRCm39) F101I probably damaging Het
Mlc1 T C 15: 88,850,697 (GRCm39) I154V probably benign Het
Myo5b T C 18: 74,892,311 (GRCm39) I1685T possibly damaging Het
Nacc2 T A 2: 25,950,348 (GRCm39) M463L probably benign Het
Nek11 A C 9: 105,121,589 (GRCm39) Y443* probably null Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nova1 A G 12: 46,863,801 (GRCm39) probably benign Het
Parp10 A G 15: 76,125,354 (GRCm39) probably null Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Plce1 T C 19: 38,512,709 (GRCm39) S3P probably damaging Het
Pnldc1 T C 17: 13,109,666 (GRCm39) D400G probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Prmt6 A G 3: 110,157,257 (GRCm39) I344T probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Ranbp17 C T 11: 33,450,718 (GRCm39) R73Q possibly damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Tecpr1 C A 5: 144,143,077 (GRCm39) A735S probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Vldlr A G 19: 27,215,713 (GRCm39) T237A probably benign Het
Vmn1r74 C A 7: 11,580,898 (GRCm39) T66K probably damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zmym1 C T 4: 126,943,672 (GRCm39) V239I probably benign Het
Zmym5 T A 14: 57,035,268 (GRCm39) T267S probably benign Het
Other mutations in Or52h9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Or52h9 APN 7 104,202,299 (GRCm39) missense probably benign 0.18
IGL01120:Or52h9 APN 7 104,202,552 (GRCm39) missense probably benign
IGL01325:Or52h9 APN 7 104,202,896 (GRCm39) missense probably damaging 1.00
IGL01590:Or52h9 APN 7 104,202,782 (GRCm39) missense probably benign 0.00
IGL02625:Or52h9 APN 7 104,202,780 (GRCm39) missense probably damaging 1.00
IGL02685:Or52h9 APN 7 104,202,357 (GRCm39) missense probably benign 0.35
P0157:Or52h9 UTSW 7 104,202,714 (GRCm39) missense probably damaging 1.00
R0087:Or52h9 UTSW 7 104,202,869 (GRCm39) missense possibly damaging 0.73
R0399:Or52h9 UTSW 7 104,202,576 (GRCm39) missense probably benign 0.05
R0547:Or52h9 UTSW 7 104,202,563 (GRCm39) missense probably benign 0.01
R0630:Or52h9 UTSW 7 104,202,998 (GRCm39) missense probably benign 0.27
R1014:Or52h9 UTSW 7 104,202,383 (GRCm39) missense probably damaging 1.00
R1127:Or52h9 UTSW 7 104,202,293 (GRCm39) missense possibly damaging 0.94
R1724:Or52h9 UTSW 7 104,202,435 (GRCm39) missense probably damaging 1.00
R2473:Or52h9 UTSW 7 104,202,146 (GRCm39) missense possibly damaging 0.93
R3115:Or52h9 UTSW 7 104,202,295 (GRCm39) missense probably benign 0.13
R3116:Or52h9 UTSW 7 104,202,295 (GRCm39) missense probably benign 0.13
R3834:Or52h9 UTSW 7 104,202,552 (GRCm39) missense probably benign 0.43
R4423:Or52h9 UTSW 7 104,202,552 (GRCm39) missense probably benign
R4907:Or52h9 UTSW 7 104,202,518 (GRCm39) missense probably damaging 0.97
R4984:Or52h9 UTSW 7 104,202,228 (GRCm39) missense probably benign 0.38
R5266:Or52h9 UTSW 7 104,203,026 (GRCm39) missense probably benign 0.00
R5592:Or52h9 UTSW 7 104,202,938 (GRCm39) missense probably benign 0.28
R6441:Or52h9 UTSW 7 104,202,542 (GRCm39) nonsense probably null
R7463:Or52h9 UTSW 7 104,202,689 (GRCm39) missense possibly damaging 0.88
R7647:Or52h9 UTSW 7 104,202,893 (GRCm39) missense probably benign 0.00
R8276:Or52h9 UTSW 7 104,202,522 (GRCm39) missense probably damaging 1.00
R9752:Or52h9 UTSW 7 104,202,530 (GRCm39) missense possibly damaging 0.90
X0067:Or52h9 UTSW 7 104,202,594 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CATCTTGTCCACTGCCACAG -3'
(R):5'- ATTACAGTCATGAGCGGAACAG -3'

Sequencing Primer
(F):5'- AGTGCCCAAACTGCTCAG -3'
(R):5'- ACCAGATGTTGATAGAGATGTCTGC -3'
Posted On 2015-04-30