Incidental Mutation 'R3774:Or52n2b'
ID 273506
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R3774 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104565521-104566501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104566113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 130 (Y130F)
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: Y130F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000100470
Gene: ENSMUSG00000056782
AA Change: Y130F

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: Y130F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm A G 3: 153,638,734 (GRCm39) V213A probably benign Het
Ccndbp1 A G 2: 120,839,581 (GRCm39) K26R possibly damaging Het
Chrna10 T C 7: 101,763,535 (GRCm39) T87A probably benign Het
Col27a1 T A 4: 63,232,963 (GRCm39) N360K probably benign Het
Crispld2 T C 8: 120,756,005 (GRCm39) S325P probably damaging Het
Dgkd T A 1: 87,864,022 (GRCm39) I79N probably damaging Het
Dhdh T A 7: 45,131,362 (GRCm39) D157V probably benign Het
Dnajc15 A T 14: 78,094,377 (GRCm39) probably null Het
Fbxo44 G T 4: 148,241,051 (GRCm39) F179L probably damaging Het
Gm5565 T A 5: 146,095,419 (GRCm39) E192V probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Itgav A G 2: 83,622,308 (GRCm39) E630G probably damaging Het
Iws1 T C 18: 32,213,048 (GRCm39) S159P probably damaging Het
Kif23 G A 9: 61,832,274 (GRCm39) S623L probably benign Het
Krt32 A G 11: 99,978,947 (GRCm39) C36R probably benign Het
Med12l A C 3: 59,155,363 (GRCm39) Q1181P probably damaging Het
Megf10 G A 18: 57,410,177 (GRCm39) G653S probably damaging Het
Mon1a A G 9: 107,778,502 (GRCm39) Y242C probably damaging Het
Msh6 G T 17: 88,293,609 (GRCm39) R788L probably damaging Het
Mttp T C 3: 137,820,024 (GRCm39) probably null Het
Mxi1 C A 19: 53,360,160 (GRCm39) A294E probably benign Het
Olfm5 T A 7: 103,811,056 (GRCm39) R27S possibly damaging Het
Palmd T C 3: 116,721,312 (GRCm39) E81G probably damaging Het
Pecr A G 1: 72,298,530 (GRCm39) F297L probably benign Het
Phf11b A G 14: 59,563,506 (GRCm39) L137S probably benign Het
Phlpp1 GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGCAGC 1: 106,320,921 (GRCm39) probably benign Het
Plcb4 A G 2: 135,800,065 (GRCm39) K472E probably benign Het
Pomgnt1 G A 4: 116,011,325 (GRCm39) R230H probably damaging Het
Pomt1 A G 2: 32,134,262 (GRCm39) H261R possibly damaging Het
Ppm1d T C 11: 85,227,993 (GRCm39) I303T probably damaging Het
Ptprc T G 1: 137,992,511 (GRCm39) Q1205H probably damaging Het
Rad23b C T 4: 55,382,589 (GRCm39) T264I possibly damaging Het
Rfc1 T C 5: 65,421,749 (GRCm39) Y1050C probably damaging Het
Septin8 T C 11: 53,428,406 (GRCm39) V352A probably damaging Het
Slc25a13 T A 6: 6,109,288 (GRCm39) Q358L probably damaging Het
Ssh1 T C 5: 114,104,783 (GRCm39) D12G probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Trpm3 T C 19: 22,955,966 (GRCm39) F1143L possibly damaging Het
Trpm3 T A 19: 22,965,339 (GRCm39) S1611R probably benign Het
Ttyh3 A G 5: 140,634,489 (GRCm39) F32L probably damaging Het
Unkl T A 17: 25,407,381 (GRCm39) probably null Het
Vwf T A 6: 125,626,062 (GRCm39) probably null Het
Wdr11 T A 7: 129,233,417 (GRCm39) probably null Het
Yeats2 A G 16: 19,969,245 (GRCm39) D12G probably damaging Het
Other mutations in Or52n2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02707:Or52n2b APN 7 104,565,859 (GRCm39) missense probably damaging 1.00
R0457:Or52n2b UTSW 7 104,566,180 (GRCm39) missense probably benign 0.19
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
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
Posted On 2015-03-25