Incidental Mutation 'R9485:Or52b3'
ID 716522
Institutional Source Beutler Lab
Gene Symbol Or52b3
Ensembl Gene ENSMUSG00000073977
Gene Name olfactory receptor family 52 subfamily B member 3
Synonyms MOR31-3, Olfr549, GA_x6K02T2PBJ9-5274337-5275287
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R9485 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102203493-102204443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102204013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 174 (N174I)
Ref Sequence ENSEMBL: ENSMUSP00000150373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033264] [ENSMUST00000098227] [ENSMUST00000106913] [ENSMUST00000217478]
AlphaFold E9Q542
Predicted Effect probably benign
Transcript: ENSMUST00000033264
SMART Domains Protein: ENSMUSP00000033264
Gene: ENSMUSG00000030966

DomainStartEndE-ValueType
RING 12 50 6e-8 SMART
BBOX 83 124 2.71e-15 SMART
coiled coil region 184 242 N/A INTRINSIC
PRY 282 334 1.08e-23 SMART
SPRY 335 461 8.9e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098227
AA Change: N174I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095829
Gene: ENSMUSG00000073977
AA Change: N174I

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.7e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 225 1.2e-11 PFAM
Pfam:7tm_1 43 294 1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106913
SMART Domains Protein: ENSMUSP00000102526
Gene: ENSMUSG00000030966

DomainStartEndE-ValueType
RING 12 50 6e-8 SMART
BBOX 83 124 2.71e-15 SMART
coiled coil region 184 242 N/A INTRINSIC
PRY 282 334 1.08e-23 SMART
SPRY 335 461 8.9e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217478
AA Change: N174I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,383,400 (GRCm39) D855G possibly damaging Het
4930486L24Rik A T 13: 61,001,059 (GRCm39) V159D possibly damaging Het
Ahnak G A 19: 8,979,438 (GRCm39) A241T probably benign Het
Apoa4 T C 9: 46,152,453 (GRCm39) M1T probably null Het
Atn1 T C 6: 124,722,748 (GRCm39) K776E unknown Het
Atp1a2 A G 1: 172,105,822 (GRCm39) *948R probably null Het
Atp7b T C 8: 22,502,778 (GRCm39) Q801R probably damaging Het
Birc6 T A 17: 74,945,398 (GRCm39) S2824T probably damaging Het
Cacng3 A T 7: 122,361,435 (GRCm39) I109F probably damaging Het
Cass4 T C 2: 172,269,805 (GRCm39) F629S probably benign Het
Ccdc168 T G 1: 44,095,399 (GRCm39) K1900Q possibly damaging Het
Cnot6l T C 5: 96,230,858 (GRCm39) T370A probably damaging Het
Cntnap5c A C 17: 58,409,103 (GRCm39) D447A probably damaging Het
Col11a2 T A 17: 34,258,669 (GRCm39) L14Q unknown Het
Dennd4a T G 9: 64,814,388 (GRCm39) Y1505* probably null Het
Dhx32 T C 7: 133,327,110 (GRCm39) M464V possibly damaging Het
Dip2b T C 15: 100,052,924 (GRCm39) V266A probably benign Het
Dnajb6 C T 5: 29,986,517 (GRCm39) Q220* probably null Het
Dnmt3a G A 12: 3,916,121 (GRCm39) S102N probably benign Het
Dph5 A T 3: 115,681,977 (GRCm39) probably benign Het
Ear6 T A 14: 52,091,489 (GRCm39) L12H Het
Erp27 T C 6: 136,886,548 (GRCm39) T162A possibly damaging Het
Fance T A 17: 28,536,479 (GRCm39) L13H probably damaging Het
Fanci T A 7: 79,089,405 (GRCm39) V947D probably benign Het
Gab1 G A 8: 81,515,484 (GRCm39) T278M probably damaging Het
Gbp4 A T 5: 105,269,796 (GRCm39) M344K probably damaging Het
Gpr87 C T 3: 59,087,005 (GRCm39) V167M possibly damaging Het
Gramd1a T G 7: 30,829,963 (GRCm39) D708A unknown Het
Gzmd T A 14: 56,368,160 (GRCm39) I100F probably benign Het
Hcrtr1 T A 4: 130,031,054 (GRCm39) M77L possibly damaging Het
Hipk2 C A 6: 38,680,445 (GRCm39) R965L possibly damaging Het
Ift88 T C 14: 57,675,724 (GRCm39) M79T probably benign Het
Ighv1-12 T C 12: 114,579,525 (GRCm39) Y99C possibly damaging Het
Il1rl2 CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT 1: 40,366,470 (GRCm39) probably benign Het
Il22b A G 10: 118,130,314 (GRCm39) V63A probably benign Het
Mllt1 C T 17: 57,207,184 (GRCm39) R220H probably damaging Het
Mroh8 T C 2: 157,071,913 (GRCm39) T531A probably benign Het
Myh6 T C 14: 55,181,802 (GRCm39) K1833R probably benign Het
Nfkbie C T 17: 45,871,353 (GRCm39) T270I probably damaging Het
Or4c110 G A 2: 88,831,709 (GRCm39) P308S unknown Het
Or52e5 C T 7: 104,718,703 (GRCm39) H10Y possibly damaging Het
Pcdh8 A T 14: 80,005,689 (GRCm39) F900I probably damaging Het
Pcolce2 T A 9: 95,520,720 (GRCm39) C32* probably null Het
Pus7 A T 5: 23,973,859 (GRCm39) S212T probably benign Het
Rgs12 G T 5: 35,189,614 (GRCm39) W1322L probably damaging Het
Sec1 G A 7: 45,328,033 (GRCm39) T338I probably damaging Het
Slc25a36 T C 9: 96,962,522 (GRCm39) K156E probably benign Het
Snrpn C T 7: 59,637,212 (GRCm39) D35N probably damaging Het
Sox9 A G 11: 112,673,705 (GRCm39) S99G probably benign Het
Spmip3 T C 1: 177,580,545 (GRCm39) V130A possibly damaging Het
Tacc3 T C 5: 33,821,644 (GRCm39) S135P possibly damaging Het
Taf2 T C 15: 54,911,667 (GRCm39) E583G probably benign Het
Tmprss7 T A 16: 45,498,282 (GRCm39) K366* probably null Het
Trpm6 G T 19: 18,755,978 (GRCm39) V74L probably benign Het
Ttbk2 G T 2: 120,575,986 (GRCm39) T997N probably benign Het
Utp25 C A 1: 192,812,541 (GRCm39) probably benign Het
Vmn2r3 T A 3: 64,183,046 (GRCm39) I218F probably damaging Het
Vps50 T C 6: 3,592,557 (GRCm39) V730A probably damaging Het
Wdr47 A T 3: 108,544,371 (GRCm39) I665F probably damaging Het
Wnt7a T A 6: 91,343,297 (GRCm39) N195I probably benign Het
Zfp131 A G 13: 120,251,885 (GRCm39) probably benign Het
Zfp709 T A 8: 72,643,669 (GRCm39) V366E possibly damaging Het
Zfp985 T A 4: 147,668,280 (GRCm39) C383S probably damaging Het
Other mutations in Or52b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Or52b3 APN 7 102,204,098 (GRCm39) missense probably damaging 1.00
IGL02048:Or52b3 APN 7 102,204,090 (GRCm39) missense probably damaging 1.00
IGL02314:Or52b3 APN 7 102,204,318 (GRCm39) missense probably damaging 1.00
IGL03154:Or52b3 APN 7 102,203,913 (GRCm39) missense probably benign
R0783:Or52b3 UTSW 7 102,203,646 (GRCm39) missense probably benign 0.01
R2009:Or52b3 UTSW 7 102,204,151 (GRCm39) missense probably damaging 1.00
R2145:Or52b3 UTSW 7 102,204,267 (GRCm39) splice site probably null
R3547:Or52b3 UTSW 7 102,203,677 (GRCm39) missense probably damaging 1.00
R6843:Or52b3 UTSW 7 102,203,928 (GRCm39) missense probably benign
R7294:Or52b3 UTSW 7 102,204,160 (GRCm39) missense probably damaging 1.00
R7533:Or52b3 UTSW 7 102,203,718 (GRCm39) missense probably damaging 1.00
R9354:Or52b3 UTSW 7 102,204,397 (GRCm39) missense possibly damaging 0.82
X0018:Or52b3 UTSW 7 102,203,935 (GRCm39) missense probably benign 0.00
Z1177:Or52b3 UTSW 7 102,204,178 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACCTTCATTGCCGAGTCG -3'
(R):5'- CATGTGCCCAGAGCCTTTTG -3'

Sequencing Primer
(F):5'- CCGAGTCGGGGATTTTGC -3'
(R):5'- CAGAGCCTTTTGCCGGG -3'
Posted On 2022-07-18