Incidental Mutation 'IGL02935:Or51b4'
ID 364258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51b4
Ensembl Gene ENSMUSG00000058200
Gene Name olfactory receptor family 51 subfamily B member 4
Synonyms GA_x6K02T2PBJ9-6620959-6620024, 5'[b]1, Olfr66, MOR1-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # IGL02935
Quality Score
Status
Chromosome 7
Chromosomal Location 103530513-103531448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103530871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 193 (N193S)
Ref Sequence ENSEMBL: ENSMUSP00000149058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079117] [ENSMUST00000216303]
AlphaFold F8VQ01
Predicted Effect probably damaging
Transcript: ENSMUST00000079117
AA Change: N193S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078119
Gene: ENSMUSG00000058200
AA Change: N193S

DomainStartEndE-ValueType
Pfam:7tm_4 29 308 3.9e-113 PFAM
Pfam:7TM_GPCR_Srsx 32 300 9.7e-7 PFAM
Pfam:7tm_1 39 290 8.4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120890
Predicted Effect probably damaging
Transcript: ENSMUST00000216303
AA Change: N193S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik G A 13: 54,709,675 (GRCm39) P13L possibly damaging Het
A930016O22Rik A T 7: 19,154,338 (GRCm39) probably benign Het
Ajuba A G 14: 54,807,924 (GRCm39) F436S probably damaging Het
Bptf C A 11: 106,971,625 (GRCm39) A961S probably damaging Het
Brca1 A G 11: 101,380,693 (GRCm39) V1780A probably benign Het
Bub1 A G 2: 127,643,215 (GRCm39) L1043S probably damaging Het
Cngb3 T A 4: 19,425,491 (GRCm39) M433K possibly damaging Het
Col4a1 T C 8: 11,269,166 (GRCm39) D928G probably damaging Het
Colq G A 14: 31,257,591 (GRCm39) P259S probably damaging Het
Csmd1 T C 8: 16,273,348 (GRCm39) Y828C probably damaging Het
Dennd5a T C 7: 109,520,514 (GRCm39) R448G possibly damaging Het
Dip2c A G 13: 9,712,182 (GRCm39) D1435G probably damaging Het
Dst T A 1: 34,225,926 (GRCm39) L1188* probably null Het
Duox1 G T 2: 122,155,000 (GRCm39) G462C possibly damaging Het
Flcn A T 11: 59,686,062 (GRCm39) I402N possibly damaging Het
Fuca2 G A 10: 13,383,063 (GRCm39) E344K probably null Het
Golim4 T C 3: 75,802,299 (GRCm39) H331R possibly damaging Het
Grid1 A T 14: 34,544,515 (GRCm39) I29F possibly damaging Het
Hltf T A 3: 20,123,215 (GRCm39) F201Y probably damaging Het
Ipo8 A T 6: 148,691,339 (GRCm39) I677N probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Meox2 A T 12: 37,159,104 (GRCm39) H92L probably damaging Het
Mlec C A 5: 115,295,873 (GRCm39) R74L probably benign Het
Mrpl58 G A 11: 115,301,054 (GRCm39) probably benign Het
Mtch1 T C 17: 29,555,184 (GRCm39) D288G probably benign Het
Myo16 A G 8: 10,582,990 (GRCm39) E1090G probably benign Het
Nicn1 A G 9: 108,167,845 (GRCm39) N39S probably benign Het
Nlrp9c A G 7: 26,084,701 (GRCm39) S293P probably benign Het
Or2bd2 G A 7: 6,443,753 (GRCm39) V285M possibly damaging Het
Or5al1 G T 2: 85,990,714 (GRCm39) probably benign Het
Pcdh20 T A 14: 88,704,438 (GRCm39) probably benign Het
Peg3 C A 7: 6,714,128 (GRCm39) V365F probably damaging Het
Penk A G 4: 4,133,843 (GRCm39) F268S probably damaging Het
Pitrm1 T A 13: 6,603,300 (GRCm39) Y116N probably damaging Het
Prex1 C A 2: 166,412,265 (GRCm39) G389C probably damaging Het
Ptch2 C T 4: 116,971,967 (GRCm39) A1163V probably damaging Het
Rasgrp3 G A 17: 75,804,065 (GRCm39) V123I probably benign Het
Slc36a2 G T 11: 55,060,854 (GRCm39) N185K possibly damaging Het
Sox9 G T 11: 112,676,175 (GRCm39) G455C probably damaging Het
St6galnac1 G T 11: 116,660,171 (GRCm39) D47E probably benign Het
Taar5 A T 10: 23,847,415 (GRCm39) D271V probably damaging Het
Top3a A T 11: 60,653,354 (GRCm39) I85K possibly damaging Het
Ttll8 T A 15: 88,798,759 (GRCm39) M659L probably benign Het
Ythdc2 C T 18: 44,988,112 (GRCm39) R656C probably damaging Het
Other mutations in Or51b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Or51b4 APN 7 103,530,587 (GRCm39) missense probably benign 0.16
IGL03033:Or51b4 APN 7 103,530,724 (GRCm39) missense probably damaging 1.00
IGL03105:Or51b4 APN 7 103,531,339 (GRCm39) missense possibly damaging 0.55
R1081:Or51b4 UTSW 7 103,531,384 (GRCm39) missense possibly damaging 0.87
R1780:Or51b4 UTSW 7 103,530,799 (GRCm39) missense probably benign 0.00
R4470:Or51b4 UTSW 7 103,530,956 (GRCm39) missense probably benign 0.02
R4724:Or51b4 UTSW 7 103,530,856 (GRCm39) missense probably benign 0.02
R5463:Or51b4 UTSW 7 103,530,541 (GRCm39) missense probably benign
R5498:Or51b4 UTSW 7 103,530,839 (GRCm39) missense probably damaging 0.97
R5987:Or51b4 UTSW 7 103,530,907 (GRCm39) missense probably damaging 0.99
R6054:Or51b4 UTSW 7 103,531,033 (GRCm39) missense probably damaging 0.98
R7815:Or51b4 UTSW 7 103,530,992 (GRCm39) missense probably benign 0.16
R8026:Or51b4 UTSW 7 103,530,904 (GRCm39) missense possibly damaging 0.96
R9114:Or51b4 UTSW 7 103,530,569 (GRCm39) missense possibly damaging 0.96
R9570:Or51b4 UTSW 7 103,530,856 (GRCm39) missense probably benign 0.02
Posted On 2015-12-18