Incidental Mutation 'R0457:Or52n2b'
ID 41222
Institutional Source Beutler Lab
Gene Symbol Or52n2b
Ensembl Gene ENSMUSG00000056782
Gene Name olfactory receptor family 52 subfamily N member 2B
Synonyms MOR34-2, GA_x6K02T2PBJ9-7546146-7545166, Olfr667, MOR34-11
MMRRC Submission 038657-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.680) question?
Stock # R0457 (G1)
Quality Score 221
Status Not validated
Chromosome 7
Chromosomal Location 104565521-104566501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104566180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 108 (T108S)
Ref Sequence ENSEMBL: ENSMUSP00000150340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071362] [ENSMUST00000217177]
AlphaFold Q7TRP4
Predicted Effect probably benign
Transcript: ENSMUST00000071362
AA Change: T108S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100470
Gene: ENSMUSG00000056782
AA Change: T108S

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 4.9e-102 PFAM
Pfam:7TM_GPCR_Srsx 37 310 1.2e-8 PFAM
Pfam:7tm_1 43 295 1.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211111
Predicted Effect probably benign
Transcript: ENSMUST00000217177
AA Change: T108S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,844,054 (GRCm39) I249M possibly damaging Het
Adcy5 T C 16: 35,094,915 (GRCm39) S691P probably benign Het
Ajm1 G T 2: 25,468,358 (GRCm39) R518S possibly damaging Het
Aspscr1 A G 11: 120,568,444 (GRCm39) E12G probably benign Het
Atp2a2 T C 5: 122,607,777 (GRCm39) Q244R probably benign Het
Birc6 A G 17: 74,959,023 (GRCm39) M3818V probably benign Het
Birc6 C T 17: 74,969,620 (GRCm39) A4230V probably damaging Het
Bub1b T C 2: 118,440,340 (GRCm39) F148S probably damaging Het
C1ra T C 6: 124,499,712 (GRCm39) S633P probably benign Het
Cacna2d1 A G 5: 16,472,414 (GRCm39) T274A probably damaging Het
Cmya5 A G 13: 93,232,095 (GRCm39) W998R possibly damaging Het
Crbn T C 6: 106,758,018 (GRCm39) K404R probably benign Het
Cryga T C 1: 65,142,204 (GRCm39) Y63C probably damaging Het
Csmd1 C A 8: 16,551,407 (GRCm39) probably null Het
Defa-ps1 A T 8: 22,185,758 (GRCm39) noncoding transcript Het
Dnajc10 T A 2: 80,175,290 (GRCm39) V559D possibly damaging Het
Dock1 A T 7: 134,739,874 (GRCm39) E1423D possibly damaging Het
Dpf3 A T 12: 83,319,179 (GRCm39) S44T probably damaging Het
Dyrk3 A T 1: 131,064,094 (GRCm39) V31D possibly damaging Het
F5 T C 1: 164,021,769 (GRCm39) S1415P probably benign Het
Fam186b A C 15: 99,169,166 (GRCm39) I927S probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fer1l6 G A 15: 58,509,943 (GRCm39) probably null Het
Fndc7 G T 3: 108,783,861 (GRCm39) S249R probably benign Het
Ganab A G 19: 8,884,614 (GRCm39) E139G possibly damaging Het
Gbp5 A G 3: 142,213,518 (GRCm39) D478G probably damaging Het
Gm17324 T A 9: 78,355,580 (GRCm39) M1K probably null Het
Gtpbp6 T A 5: 110,254,608 (GRCm39) R126S probably damaging Het
Hapln4 G A 8: 70,541,122 (GRCm39) W385* probably null Het
Hmcn2 T A 2: 31,305,296 (GRCm39) probably null Het
Hsp90ab1 A G 17: 45,879,914 (GRCm39) V534A probably damaging Het
Kat6b C A 14: 21,720,598 (GRCm39) T1650K probably damaging Het
Kpna1 T A 16: 35,823,275 (GRCm39) D42E probably benign Het
Lrrc14b A G 13: 74,509,279 (GRCm39) M376T probably benign Het
Lrrc40 A G 3: 157,760,201 (GRCm39) probably null Het
Ltv1 T C 10: 13,067,887 (GRCm39) T34A probably benign Het
Mga T A 2: 119,746,969 (GRCm39) N373K probably damaging Het
Msh3 A T 13: 92,357,505 (GRCm39) M101K probably damaging Het
Mthfd2l T C 5: 91,168,065 (GRCm39) M320T possibly damaging Het
Mug1 G A 6: 121,838,514 (GRCm39) E506K probably benign Het
Ngb T C 12: 87,147,503 (GRCm39) D54G probably damaging Het
Ntrk1 A G 3: 87,699,014 (GRCm39) F84L probably benign Het
Or1j18 A T 2: 36,624,545 (GRCm39) I71F probably benign Het
Phf12 T A 11: 77,908,994 (GRCm39) I358N possibly damaging Het
Plec A G 15: 76,061,801 (GRCm39) F2577S probably damaging Het
Polr1c T A 17: 46,558,689 (GRCm39) Y36F probably benign Het
Prkd1 A T 12: 50,413,155 (GRCm39) M672K probably damaging Het
Prob1 T C 18: 35,785,539 (GRCm39) Y905C probably damaging Het
Ptpn23 T A 9: 110,215,361 (GRCm39) H1433L possibly damaging Het
Rnf11 A T 4: 109,314,149 (GRCm39) L80Q probably damaging Het
Sbp G A 17: 24,164,286 (GRCm39) G183D probably benign Het
Scgb2b7 A T 7: 31,403,437 (GRCm39) C90S possibly damaging Het
Slc4a9 T C 18: 36,668,471 (GRCm39) L710P probably damaging Het
Spire1 T A 18: 67,685,670 (GRCm39) I35F probably damaging Het
Sptbn2 T C 19: 4,795,966 (GRCm39) V1715A possibly damaging Het
St7 T C 6: 17,819,281 (GRCm39) F62L probably damaging Het
Svep1 C T 4: 58,118,136 (GRCm39) G862D probably damaging Het
Syne1 A T 10: 4,972,041 (GRCm39) M8789K probably damaging Het
Synpo2 A G 3: 122,906,421 (GRCm39) L965P probably damaging Het
Trhde A T 10: 114,284,167 (GRCm39) M772K probably benign Het
Ttn T A 2: 76,608,851 (GRCm39) K15976* probably null Het
Unc13a A C 8: 72,110,645 (GRCm39) probably null Het
Vcan T C 13: 89,851,318 (GRCm39) E1214G possibly damaging Het
Vmn1r29 T C 6: 58,285,072 (GRCm39) V264A probably benign Het
Vmn1r60 T A 7: 5,548,118 (GRCm39) probably benign Het
Wdr90 C T 17: 26,079,459 (GRCm39) R225H probably benign Het
Wnk1 G A 6: 119,946,293 (GRCm39) T620I probably damaging Het
Zan C T 5: 137,405,968 (GRCm39) probably benign Het
Zfp37 A T 4: 62,109,902 (GRCm39) C387* probably null Het
Zfp521 T C 18: 13,977,897 (GRCm39) T839A probably benign Het
Other mutations in Or52n2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02707:Or52n2b APN 7 104,565,859 (GRCm39) missense probably damaging 1.00
R0684:Or52n2b UTSW 7 104,565,841 (GRCm39) missense probably benign 0.21
R1343:Or52n2b UTSW 7 104,565,834 (GRCm39) missense probably damaging 1.00
R1401:Or52n2b UTSW 7 104,565,963 (GRCm39) missense probably damaging 1.00
R1415:Or52n2b UTSW 7 104,565,543 (GRCm39) missense probably benign 0.03
R1644:Or52n2b UTSW 7 104,566,015 (GRCm39) missense probably benign 0.02
R1907:Or52n2b UTSW 7 104,566,272 (GRCm39) missense probably damaging 0.99
R2063:Or52n2b UTSW 7 104,565,982 (GRCm39) missense probably benign 0.02
R3774:Or52n2b UTSW 7 104,566,113 (GRCm39) missense probably benign 0.01
R4751:Or52n2b UTSW 7 104,565,617 (GRCm39) nonsense probably null
R4958:Or52n2b UTSW 7 104,565,668 (GRCm39) missense probably damaging 0.97
R4960:Or52n2b UTSW 7 104,565,915 (GRCm39) missense probably benign 0.02
R5362:Or52n2b UTSW 7 104,565,834 (GRCm39) missense probably damaging 1.00
R5988:Or52n2b UTSW 7 104,566,125 (GRCm39) missense probably damaging 0.98
R7396:Or52n2b UTSW 7 104,565,558 (GRCm39) missense probably benign
R8169:Or52n2b UTSW 7 104,565,619 (GRCm39) missense possibly damaging 0.60
R8517:Or52n2b UTSW 7 104,565,681 (GRCm39) missense possibly damaging 0.80
R8722:Or52n2b UTSW 7 104,565,708 (GRCm39) missense probably benign 0.03
R9461:Or52n2b UTSW 7 104,565,583 (GRCm39) missense probably benign 0.06
Z1088:Or52n2b UTSW 7 104,565,873 (GRCm39) missense probably benign 0.06
Z1177:Or52n2b UTSW 7 104,566,326 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AAGGATGAATGCCACACTCCTCAAG -3'
(R):5'- TGCCAGCCAATATGTCTGAAGCC -3'

Sequencing Primer
(F):5'- TCAAGAAAGTAGCAAGACTAGCTTTG -3'
(R):5'- GAAGATGCACATGTCTGGATCTC -3'
Posted On 2013-05-23