Incidental Mutation 'IGL03089:Or2h1b'
ID 418273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2h1b
Ensembl Gene ENSMUSG00000091601
Gene Name olfactory receptor family 2 subfamily H member 1B
Synonyms MOR256-39P, GA_x6K02T2PSCP-1592036-1591098, Olfr93
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL03089
Quality Score
Status
Chromosome 17
Chromosomal Location 37461923-37462861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37462534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 110 (C110R)
Ref Sequence ENSEMBL: ENSMUSP00000151672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171679] [ENSMUST00000208003] [ENSMUST00000219235]
AlphaFold Q6UAH1
Predicted Effect probably damaging
Transcript: ENSMUST00000171679
AA Change: C110R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125907
Gene: ENSMUSG00000091601
AA Change: C110R

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 5.7e-50 PFAM
Pfam:7tm_1 39 288 3.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208003
Predicted Effect probably damaging
Transcript: ENSMUST00000219235
AA Change: C110R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,584,556 (GRCm39) S947P probably damaging Het
Agl T A 3: 116,574,672 (GRCm39) H709L probably damaging Het
Alpi T A 1: 87,027,830 (GRCm39) D250V probably benign Het
Anapc4 A G 5: 53,023,740 (GRCm39) S735G probably benign Het
Ank1 A T 8: 23,594,848 (GRCm39) I611L probably benign Het
Canx A G 11: 50,195,309 (GRCm39) V253A possibly damaging Het
Cbfa2t3 A T 8: 123,361,873 (GRCm39) I383N probably damaging Het
Ccn3 C T 15: 54,612,680 (GRCm39) R230C possibly damaging Het
Cdc23 T C 18: 34,767,513 (GRCm39) Y519C probably damaging Het
Celsr3 T A 9: 108,703,806 (GRCm39) N96K probably benign Het
Clptm1 A G 7: 19,371,072 (GRCm39) Y355H probably damaging Het
Col6a5 C T 9: 105,811,038 (GRCm39) S827N unknown Het
Cyp21a1 G T 17: 35,022,420 (GRCm39) probably null Het
Cyp24a1 T G 2: 170,327,886 (GRCm39) H452P probably damaging Het
Cyp2c39 T A 19: 39,552,295 (GRCm39) H329Q probably benign Het
D630003M21Rik C T 2: 158,058,664 (GRCm39) R412Q probably benign Het
Dennd1b G A 1: 139,029,767 (GRCm39) R308Q possibly damaging Het
Deup1 T C 9: 15,519,096 (GRCm39) S137G possibly damaging Het
Dmbt1 T A 7: 130,712,778 (GRCm39) I1583N probably damaging Het
Dvl1 G A 4: 155,939,609 (GRCm39) V320M probably damaging Het
Elmod3 A G 6: 72,546,299 (GRCm39) S254P probably damaging Het
Emsy G A 7: 98,286,473 (GRCm39) Q226* probably null Het
Ephb6 C A 6: 41,591,108 (GRCm39) D88E probably damaging Het
Exoc1 A G 5: 76,690,005 (GRCm39) M182V possibly damaging Het
Fbxw4 T G 19: 45,580,160 (GRCm39) probably benign Het
Fgr A G 4: 132,713,577 (GRCm39) D35G probably damaging Het
Gm20547 A T 17: 35,080,008 (GRCm39) D366E probably damaging Het
Gucy1a1 T C 3: 82,004,988 (GRCm39) N599S probably damaging Het
Ighg2b G A 12: 113,270,298 (GRCm39) P240L probably damaging Het
Jak3 A G 8: 72,138,727 (GRCm39) D975G probably benign Het
Klhl26 A T 8: 70,908,283 (GRCm39) N24K probably benign Het
Letm1 T A 5: 33,918,202 (GRCm39) E314D probably damaging Het
Lin54 A T 5: 100,598,852 (GRCm39) F319L probably damaging Het
Lrp5 A T 19: 3,670,314 (GRCm39) probably null Het
Lvrn T C 18: 47,013,776 (GRCm39) F486S probably damaging Het
Or1e19 T C 11: 73,316,009 (GRCm39) T267A probably benign Het
Or4c113 T C 2: 88,885,357 (GRCm39) R138G probably benign Het
Or51m1 A C 7: 103,578,329 (GRCm39) I100L probably benign Het
Or8g54 A T 9: 39,706,977 (GRCm39) Y102F probably benign Het
Pramel24 A G 4: 143,452,703 (GRCm39) T45A probably benign Het
Sap30bp T A 11: 115,848,214 (GRCm39) M112K possibly damaging Het
Sbno1 A G 5: 124,525,374 (GRCm39) probably benign Het
Slc30a5 T C 13: 100,950,338 (GRCm39) I307V probably benign Het
Trim37 T A 11: 87,080,963 (GRCm39) D21E probably damaging Het
Usp34 T C 11: 23,396,958 (GRCm39) F614S possibly damaging Het
Usp39 A C 6: 72,305,622 (GRCm39) F387C probably damaging Het
Vipas39 C T 12: 87,300,028 (GRCm39) C149Y probably damaging Het
Vmn2r107 C A 17: 20,595,974 (GRCm39) H842Q probably benign Het
Vps18 T A 2: 119,123,658 (GRCm39) V195E probably benign Het
Vsx1 A G 2: 150,527,510 (GRCm39) probably benign Het
Other mutations in Or2h1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Or2h1b APN 17 37,462,332 (GRCm39) missense probably damaging 1.00
IGL02369:Or2h1b APN 17 37,462,665 (GRCm39) missense probably damaging 1.00
IGL02392:Or2h1b APN 17 37,461,979 (GRCm39) missense probably benign 0.03
IGL02516:Or2h1b APN 17 37,462,163 (GRCm39) missense possibly damaging 0.95
PIT4515001:Or2h1b UTSW 17 37,462,270 (GRCm39) missense probably benign
R0396:Or2h1b UTSW 17 37,462,446 (GRCm39) missense probably damaging 1.00
R2276:Or2h1b UTSW 17 37,462,145 (GRCm39) nonsense probably null
R2278:Or2h1b UTSW 17 37,462,145 (GRCm39) nonsense probably null
R3419:Or2h1b UTSW 17 37,462,242 (GRCm39) missense probably damaging 0.99
R4254:Or2h1b UTSW 17 37,462,530 (GRCm39) missense possibly damaging 0.90
R4353:Or2h1b UTSW 17 37,462,228 (GRCm39) missense probably damaging 1.00
R4530:Or2h1b UTSW 17 37,462,498 (GRCm39) missense possibly damaging 0.84
R4666:Or2h1b UTSW 17 37,462,270 (GRCm39) missense possibly damaging 0.61
R5583:Or2h1b UTSW 17 37,462,485 (GRCm39) missense probably benign 0.00
R5834:Or2h1b UTSW 17 37,462,690 (GRCm39) missense probably damaging 1.00
R6348:Or2h1b UTSW 17 37,462,497 (GRCm39) missense probably damaging 0.96
R6461:Or2h1b UTSW 17 37,462,362 (GRCm39) missense probably damaging 1.00
R6788:Or2h1b UTSW 17 37,462,713 (GRCm39) missense probably damaging 0.98
R7969:Or2h1b UTSW 17 37,462,077 (GRCm39) missense possibly damaging 0.95
R8374:Or2h1b UTSW 17 37,462,636 (GRCm39) missense probably damaging 0.97
R9126:Or2h1b UTSW 17 37,462,123 (GRCm39) missense possibly damaging 0.90
R9298:Or2h1b UTSW 17 37,462,572 (GRCm39) missense probably damaging 1.00
Z1177:Or2h1b UTSW 17 37,462,716 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02