Incidental Mutation 'R2760:Or55b4'
ID 253995
Institutional Source Beutler Lab
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 # R2760 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102133321-102137514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102133583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 248 (H248R)
Ref Sequence ENSEMBL: ENSMUSP00000051280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051201] [ENSMUST00000219647]
AlphaFold E9PX47
Predicted Effect probably damaging
Transcript: ENSMUST00000051201
AA Change: H248R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051280
Gene: ENSMUSG00000043925
AA Change: H248R

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
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
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Atp8a2 C T 14: 60,097,641 (GRCm39) V796I probably benign Het
Btnl1 T G 17: 34,600,012 (GRCm39) W172G probably damaging Het
Ceacam1 T C 7: 25,176,899 (GRCm39) T21A probably damaging Het
Dipk1b A G 2: 26,525,837 (GRCm39) H257R probably benign Het
Frmpd1 A C 4: 45,244,667 (GRCm39) I119L possibly damaging Het
Haus6 A T 4: 86,501,413 (GRCm39) Y819* probably null Het
Ildr2 A G 1: 166,131,175 (GRCm39) R344G probably damaging Het
Irs1 T C 1: 82,266,291 (GRCm39) I642V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lum T C 10: 97,404,633 (GRCm39) V176A probably benign Het
Nobox A G 6: 43,281,040 (GRCm39) L478P probably damaging Het
Or10g6 T A 9: 39,933,692 (GRCm39) M1K probably null Het
Or4a67 T A 2: 88,597,980 (GRCm39) R226S possibly damaging Het
Or6b2b A G 1: 92,418,802 (GRCm39) V225A probably damaging Het
Or7a42 A T 10: 78,791,876 (GRCm39) Y279F probably damaging Het
Rtn1 A T 12: 72,455,136 (GRCm39) C64S probably benign Het
Senp6 A G 9: 80,029,260 (GRCm39) Y285C probably null Het
Slco1a5 C A 6: 142,195,997 (GRCm39) M335I probably benign Het
Spg11 A T 2: 121,927,840 (GRCm39) I648K probably damaging Het
Ube3d T C 9: 86,305,027 (GRCm39) I272V probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Utrn A G 10: 12,566,622 (GRCm39) V1180A probably damaging Het
Vill T C 9: 118,895,950 (GRCm39) probably null Het
Vmn2r101 T C 17: 19,809,901 (GRCm39) I229T probably benign Het
Zbtb8b A T 4: 129,326,293 (GRCm39) L291M probably benign 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
IGL01594:Or55b4 APN 7 102,134,254 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGTGAAGACCTGTTGCTGAG -3'
(R):5'- CCTGATGAAGCTTTCCTGTGG -3'

Sequencing Primer
(F):5'- CTGAGTCCTTTGGAACAGAGCTAC -3'
(R):5'- AAGCTTTCCTGTGGGGACATCTC -3'
Posted On 2014-12-04