Incidental Mutation 'IGL02956:Or52h1'
ID 365125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52h1
Ensembl Gene ENSMUSG00000042909
Gene Name olfactory receptor family 52 subfamily H member 1
Synonyms Olfr648, GA_x6K02T2PBJ9-6914780-6913830, MOR31-12
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # IGL02956
Quality Score
Status
Chromosome 7
Chromosomal Location 103828663-103829613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103829334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 94 (I94V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052659] [ENSMUST00000216612]
AlphaFold Q8VG19
Predicted Effect probably damaging
Transcript: ENSMUST00000052659
AA Change: I94V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909
AA Change: I94V

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2e-111 PFAM
Pfam:7TM_GPCR_Srsx 37 309 7.7e-7 PFAM
Pfam:7tm_1 43 294 3.1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000104877
AA Change: I94V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100471
Gene: ENSMUSG00000042909
AA Change: I94V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 309 1.1e-8 PFAM
Pfam:7tm_1 43 294 3.6e-28 PFAM
Pfam:7tm_4 141 287 1.9e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216612
AA Change: I94V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
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, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 C T 2: 26,873,049 (GRCm39) A339V probably benign Het
Adck2 T C 6: 39,553,436 (GRCm39) V349A probably benign Het
Akna G T 4: 63,304,516 (GRCm39) T546K probably benign Het
Albfm1 A G 5: 90,727,497 (GRCm39) I372V possibly damaging Het
Ankrd29 T C 18: 12,393,993 (GRCm39) K274E probably damaging Het
Apc2 A T 10: 80,142,209 (GRCm39) N376I probably damaging Het
Cadps A G 14: 12,418,047 (GRCm38) probably benign Het
Cbl T C 9: 44,080,331 (GRCm39) T243A probably damaging Het
Cep15 A G 14: 12,287,326 (GRCm38) N29S probably benign Het
Cfap52 T C 11: 67,844,901 (GRCm39) E56G probably benign Het
Chd5 C A 4: 152,464,413 (GRCm39) P1561Q probably benign Het
Dscam A G 16: 96,602,472 (GRCm39) S657P probably damaging Het
Ece1 T C 4: 137,690,149 (GRCm39) F732L probably damaging Het
Eno2 T C 6: 124,740,082 (GRCm39) D199G probably damaging Het
Enpp3 A G 10: 24,650,841 (GRCm39) probably benign Het
Fbxl15 G T 19: 46,317,690 (GRCm39) C124F probably damaging Het
Fermt3 T C 19: 6,979,712 (GRCm39) S474G probably benign Het
Fkbp6 T C 5: 135,368,350 (GRCm39) E252G probably damaging Het
Gm6625 A T 8: 89,873,667 (GRCm39) noncoding transcript Het
Gnl1 T C 17: 36,298,504 (GRCm39) I416T probably benign Het
Gp1bb C A 16: 18,439,675 (GRCm39) A140S probably benign Het
Grin2c A G 11: 115,148,785 (GRCm39) V271A possibly damaging Het
Heatr1 T A 13: 12,430,940 (GRCm39) S1012T possibly damaging Het
Ighv5-6 T A 12: 113,589,523 (GRCm39) probably benign Het
Itga10 A G 3: 96,562,429 (GRCm39) E737G possibly damaging Het
Lmod2 A C 6: 24,603,631 (GRCm39) N202T probably damaging Het
Lrp1 C T 10: 127,380,428 (GRCm39) V3908I probably benign Het
Lrrtm4 T C 6: 79,998,633 (GRCm39) V15A probably benign Het
Mup4 A T 4: 59,959,263 (GRCm39) D77E probably benign Het
Myh7b A T 2: 155,474,823 (GRCm39) E1787V probably damaging Het
Myh7b T A 2: 155,467,874 (GRCm39) M804K possibly damaging Het
Nup133 T C 8: 124,675,822 (GRCm39) S32G probably benign Het
Or13c7d T A 4: 43,770,399 (GRCm39) N204I probably benign Het
Or7d10 T C 9: 19,832,348 (GRCm39) V281A possibly damaging Het
Or8b8 A G 9: 37,809,404 (GRCm39) K235E probably damaging Het
Polr2m T C 9: 71,390,911 (GRCm39) D97G possibly damaging Het
Pou2f3 A G 9: 43,054,100 (GRCm39) probably benign Het
Rex1bd C A 8: 70,958,552 (GRCm39) V72F possibly damaging Het
Rgp1 A G 4: 43,581,505 (GRCm39) T261A possibly damaging Het
Satb2 A G 1: 56,987,334 (GRCm39) F84L probably damaging Het
Sec14l1 G A 11: 117,043,973 (GRCm39) D494N probably benign Het
Spn G A 7: 126,736,432 (GRCm39) T25M probably damaging Het
Trp73 G A 4: 154,148,920 (GRCm39) probably benign Het
Tsc22d2 A G 3: 58,324,967 (GRCm39) T620A unknown Het
Zfp276 T C 8: 123,981,483 (GRCm39) L10P probably damaging Het
Zfp93 T A 7: 23,974,400 (GRCm39) N128K probably benign Het
Other mutations in Or52h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Or52h1 APN 7 103,829,432 (GRCm39) missense probably damaging 1.00
IGL02488:Or52h1 APN 7 103,829,478 (GRCm39) missense possibly damaging 0.66
R0001:Or52h1 UTSW 7 103,828,680 (GRCm39) nonsense probably null
R0057:Or52h1 UTSW 7 103,829,536 (GRCm39) missense probably benign 0.13
R1054:Or52h1 UTSW 7 103,829,498 (GRCm39) missense probably benign 0.02
R1262:Or52h1 UTSW 7 103,828,623 (GRCm39) splice site probably null
R4589:Or52h1 UTSW 7 103,828,636 (GRCm39) splice site probably null
R4975:Or52h1 UTSW 7 103,828,736 (GRCm39) missense probably damaging 1.00
R5068:Or52h1 UTSW 7 103,829,448 (GRCm39) missense probably damaging 1.00
R5643:Or52h1 UTSW 7 103,829,091 (GRCm39) missense probably benign 0.00
R6195:Or52h1 UTSW 7 103,828,961 (GRCm39) missense possibly damaging 0.78
R6211:Or52h1 UTSW 7 103,828,954 (GRCm39) nonsense probably null
R6233:Or52h1 UTSW 7 103,828,961 (GRCm39) missense possibly damaging 0.78
R6259:Or52h1 UTSW 7 103,829,261 (GRCm39) missense possibly damaging 0.53
R7138:Or52h1 UTSW 7 103,829,504 (GRCm39) missense probably damaging 1.00
R7357:Or52h1 UTSW 7 103,828,978 (GRCm39) missense probably damaging 1.00
R7570:Or52h1 UTSW 7 103,828,955 (GRCm39) missense probably damaging 1.00
R8352:Or52h1 UTSW 7 103,829,103 (GRCm39) missense probably damaging 1.00
R8452:Or52h1 UTSW 7 103,829,103 (GRCm39) missense probably damaging 1.00
R8712:Or52h1 UTSW 7 103,829,025 (GRCm39) missense probably damaging 1.00
R8937:Or52h1 UTSW 7 103,828,949 (GRCm39) missense possibly damaging 0.88
X0018:Or52h1 UTSW 7 103,828,797 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18