Incidental Mutation 'IGL01594:Or55b4'
ID 91692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or55b4
Ensembl Gene ENSMUSG00000043925
Gene Name olfactory receptor family 55 subfamily B member 4
Synonyms Olfr544, MOR42-3, GA_x6K02T2PBJ9-5206624-5205620
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL01594
Quality Score
Status
Chromosome 7
Chromosomal Location 102133321-102137514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102134254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 24 (M24I)
Ref Sequence ENSEMBL: ENSMUSP00000051280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051201] [ENSMUST00000219647]
AlphaFold E9PX47
Predicted Effect probably benign
Transcript: ENSMUST00000051201
AA Change: M24I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051280
Gene: ENSMUSG00000043925
AA Change: M24I

DomainStartEndE-ValueType
Pfam:7tm_4 35 314 1.2e-73 PFAM
Pfam:7TM_GPCR_Srsx 39 311 6.3e-8 PFAM
Pfam:7tm_1 45 296 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219647
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,996,071 (GRCm39) probably null Het
Acss1 A T 2: 150,463,450 (GRCm39) V618E probably damaging Het
Adgrg6 T C 10: 14,310,084 (GRCm39) N774D probably damaging Het
Atp9a A G 2: 168,532,932 (GRCm39) V134A probably damaging Het
Csmd3 T A 15: 47,492,635 (GRCm39) T3169S probably benign Het
D030068K23Rik T A 8: 109,978,009 (GRCm39) Q52L unknown Het
Dnah5 T C 15: 28,311,480 (GRCm39) S1820P possibly damaging Het
Fem1c A C 18: 46,639,343 (GRCm39) S220A probably benign Het
Gm10305 G A 4: 99,161,414 (GRCm39) D108N unknown Het
Gtdc1 A G 2: 44,481,891 (GRCm39) probably null Het
Il2ra T C 2: 11,685,207 (GRCm39) V181A possibly damaging Het
Lrrn1 T C 6: 107,544,454 (GRCm39) I84T probably damaging Het
Map3k1 T A 13: 111,894,723 (GRCm39) probably null Het
Mical1 T G 10: 41,356,325 (GRCm39) Y293D probably damaging Het
Mpzl1 T C 1: 165,421,161 (GRCm39) D266G probably damaging Het
Pabpc4l A T 3: 46,401,581 (GRCm39) V21D probably damaging Het
Prdm10 T C 9: 31,258,149 (GRCm39) C525R probably damaging Het
Ptprj C A 2: 90,271,139 (GRCm39) probably benign Het
Rgs3 T C 4: 62,537,981 (GRCm39) F4S probably damaging Het
Ryr3 G A 2: 112,603,073 (GRCm39) T2457I probably damaging Het
Scn3a A G 2: 65,291,775 (GRCm39) I1657T probably damaging Het
Sema6a A G 18: 47,381,884 (GRCm39) S888P probably damaging Het
Slc37a1 T A 17: 31,538,122 (GRCm39) Y148* probably null Het
Tex10 T C 4: 48,469,906 (GRCm39) N53S possibly damaging Het
Tyr A T 7: 87,133,022 (GRCm39) probably benign Het
Vmn2r100 A G 17: 19,751,495 (GRCm39) S513G possibly damaging Het
Other mutations in Or55b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Or55b4 APN 7 102,133,685 (GRCm39) missense probably damaging 1.00
IGL01380:Or55b4 APN 7 102,133,592 (GRCm39) missense probably damaging 1.00
R0732:Or55b4 UTSW 7 102,133,650 (GRCm39) missense probably benign 0.15
R1061:Or55b4 UTSW 7 102,133,321 (GRCm39) makesense probably null
R1387:Or55b4 UTSW 7 102,133,911 (GRCm39) missense probably benign 0.01
R2760:Or55b4 UTSW 7 102,133,583 (GRCm39) missense probably damaging 1.00
R5151:Or55b4 UTSW 7 102,134,192 (GRCm39) missense probably benign 0.00
R5916:Or55b4 UTSW 7 102,133,586 (GRCm39) missense probably damaging 1.00
R6084:Or55b4 UTSW 7 102,133,596 (GRCm39) missense probably damaging 1.00
R7069:Or55b4 UTSW 7 102,133,979 (GRCm39) missense possibly damaging 0.85
R7195:Or55b4 UTSW 7 102,133,574 (GRCm39) missense probably damaging 1.00
R7738:Or55b4 UTSW 7 102,133,818 (GRCm39) missense probably damaging 0.99
R8299:Or55b4 UTSW 7 102,133,409 (GRCm39) missense probably benign 0.01
R8433:Or55b4 UTSW 7 102,133,991 (GRCm39) missense probably benign 0.00
R9063:Or55b4 UTSW 7 102,133,931 (GRCm39) missense probably damaging 0.98
R9396:Or55b4 UTSW 7 102,134,180 (GRCm39) missense possibly damaging 0.95
R9698:Or55b4 UTSW 7 102,133,377 (GRCm39) nonsense probably null
Posted On 2013-12-09