Incidental Mutation 'R3852:Or52b4'
ID 275972
Institutional Source Beutler Lab
Gene Symbol Or52b4
Ensembl Gene ENSMUSG00000073979
Gene Name olfactory receptor family 52 subfamily B member 4
Synonyms MOR31-4, Olfr547, GA_x6K02T2PBJ9-5256044-5256988
MMRRC Submission 040784-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R3852 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102183956-102184891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102184487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 178 (H178N)
Ref Sequence ENSEMBL: ENSMUSP00000095831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098229]
AlphaFold E9PXN3
Predicted Effect probably benign
Transcript: ENSMUST00000098229
AA Change: H178N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000095831
Gene: ENSMUSG00000073979
AA Change: H178N

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 1.1e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 277 6.7e-10 PFAM
Pfam:7tm_1 43 294 1.2e-20 PFAM
Meta Mutation Damage Score 0.2330 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 96% (45/47)
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
Abcf3 T C 16: 20,379,189 (GRCm39) V685A probably damaging Het
Abhd4 T C 14: 54,502,824 (GRCm39) Y44H probably damaging Het
AI429214 A G 8: 37,461,596 (GRCm39) D248G probably damaging Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
AY358078 A G 14: 52,043,010 (GRCm39) T233A unknown Het
Calcr T C 6: 3,693,735 (GRCm39) Y353C probably damaging Het
Ccdc34 A G 2: 109,862,773 (GRCm39) K193E possibly damaging Het
Dhcr24 A G 4: 106,431,070 (GRCm39) E253G probably benign Het
Dnah6 A G 6: 73,104,910 (GRCm39) V1841A possibly damaging Het
Dpp10 A T 1: 123,413,653 (GRCm39) Y186* probably null Het
Dpysl4 C T 7: 138,680,851 (GRCm39) T575M probably damaging Het
Dusp7 T A 9: 106,251,092 (GRCm39) S406T probably benign Het
Gga3 T A 11: 115,478,368 (GRCm39) T475S probably benign Het
Gm10271 T A 10: 116,792,779 (GRCm39) K36* probably null Het
Gm572 G A 4: 148,753,329 (GRCm39) E325K possibly damaging Het
Golga2 A G 2: 32,195,623 (GRCm39) E806G probably benign Het
Igf1 A T 10: 87,751,181 (GRCm39) K126* probably null Het
Itpkc A T 7: 26,927,037 (GRCm39) N292K probably benign Het
Klhl1 A T 14: 96,517,641 (GRCm39) M345K probably benign Het
Lrp2 A G 2: 69,367,909 (GRCm39) V201A probably damaging Het
Lrrc8a C T 2: 30,151,972 (GRCm39) T757M probably benign Het
Mios T A 6: 8,216,453 (GRCm39) I459K probably benign Het
Mrps11 T C 7: 78,440,393 (GRCm39) I94T probably damaging Het
Ms4a4c T A 19: 11,393,759 (GRCm39) S68T probably benign Het
Mstn C T 1: 53,101,130 (GRCm39) T69I possibly damaging Het
Myo10 A G 15: 25,779,712 (GRCm39) K28E probably damaging Het
Nol6 A G 4: 41,117,452 (GRCm39) S914P probably damaging Het
Ntn1 C G 11: 68,276,619 (GRCm39) D110H probably damaging Het
Or51f1e T C 7: 102,747,391 (GRCm39) S148P probably damaging Het
Pcdh17 C T 14: 84,684,699 (GRCm39) Q389* probably null Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Prr14l T C 5: 32,987,689 (GRCm39) E602G probably damaging Het
Rusc2 C A 4: 43,416,424 (GRCm39) Q577K probably benign Het
Sacm1l T A 9: 123,416,641 (GRCm39) M534K probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slco4a1 C T 2: 180,105,884 (GRCm39) T22M probably benign Het
Tas2r104 A T 6: 131,661,888 (GRCm39) C274S probably benign Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Trim43c T A 9: 88,722,454 (GRCm39) H33Q probably damaging Het
Ttc17 A T 2: 94,199,758 (GRCm39) I411K possibly damaging Het
Ttn G T 2: 76,581,678 (GRCm39) L23072I possibly damaging Het
Ttn A C 2: 76,785,368 (GRCm39) V669G possibly damaging Het
Vmn1r60 A T 7: 5,548,026 (GRCm39) F25I possibly damaging Het
Vmn2r9 A G 5: 108,995,997 (GRCm39) I217T probably damaging Het
Other mutations in Or52b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Or52b4 APN 7 102,184,140 (GRCm39) missense probably benign 0.31
IGL01522:Or52b4 APN 7 102,184,391 (GRCm39) missense probably damaging 0.97
IGL02182:Or52b4 APN 7 102,184,775 (GRCm39) missense probably benign 0.00
IGL02669:Or52b4 APN 7 102,184,868 (GRCm39) missense probably benign
IGL03139:Or52b4 APN 7 102,184,517 (GRCm39) missense possibly damaging 0.95
FR4976:Or52b4 UTSW 7 102,184,888 (GRCm39) makesense probably null
R1246:Or52b4 UTSW 7 102,184,149 (GRCm39) missense probably damaging 1.00
R2884:Or52b4 UTSW 7 102,184,439 (GRCm39) missense probably benign 0.03
R4686:Or52b4 UTSW 7 102,184,356 (GRCm39) missense probably damaging 1.00
R4879:Or52b4 UTSW 7 102,183,962 (GRCm39) missense probably benign 0.00
R6169:Or52b4 UTSW 7 102,184,479 (GRCm39) missense probably benign 0.02
R6213:Or52b4 UTSW 7 102,184,139 (GRCm39) missense probably damaging 1.00
R7080:Or52b4 UTSW 7 102,184,172 (GRCm39) missense possibly damaging 0.91
R7966:Or52b4 UTSW 7 102,184,623 (GRCm39) missense probably damaging 1.00
R8510:Or52b4 UTSW 7 102,184,170 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTTTGACCGCTACATTGC -3'
(R):5'- ACCTCTGTGTAAGCGTCGTG -3'

Sequencing Primer
(F):5'- GCTATTTGCTACCCGCTGAGG -3'
(R):5'- TGTAAGCGTCGTGAAGATCCC -3'
Posted On 2015-04-06