Incidental Mutation 'R4154:Or52b1'
ID 315044
Institutional Source Beutler Lab
Gene Symbol Or52b1
Ensembl Gene ENSMUSG00000050266
Gene Name olfactory receptor family 52 subfamily B member 1
Synonyms Olfr690, GA_x6K02T2PBJ9-7959171-7958224, MOR31-2
MMRRC Submission 040998-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4154 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104978424-104979485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104978592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 269 (N269S)
Ref Sequence ENSEMBL: ENSMUSP00000150831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061920] [ENSMUST00000211006] [ENSMUST00000216230]
AlphaFold Q8VH18
Predicted Effect probably damaging
Transcript: ENSMUST00000061920
AA Change: N269S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061272
Gene: ENSMUSG00000050266
AA Change: N269S

DomainStartEndE-ValueType
transmembrane domain 2 19 N/A INTRINSIC
Pfam:7tm_4 33 312 2e-110 PFAM
Pfam:7TM_GPCR_Srsx 37 264 1.4e-9 PFAM
Pfam:7tm_1 43 294 1.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209868
Predicted Effect probably damaging
Transcript: ENSMUST00000211006
AA Change: N269S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216230
AA Change: N269S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (51/52)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI593442 A T 9: 52,589,204 (GRCm39) H124Q probably benign Het
Asph C T 4: 9,639,250 (GRCm39) W38* probably null Het
Bicdl2 A G 17: 23,885,066 (GRCm39) probably null Het
Chd8 T C 14: 52,444,668 (GRCm39) probably benign Het
Clcn4 T C 7: 7,297,833 (GRCm39) N67D probably benign Het
Cptp A G 4: 155,951,657 (GRCm39) V12A possibly damaging Het
Crim1 A G 17: 78,545,272 (GRCm39) I145V probably benign Het
Ctsc G A 7: 87,948,755 (GRCm39) M195I probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Fas T G 19: 34,296,228 (GRCm39) I180S possibly damaging Het
Fsip2 A C 2: 82,817,413 (GRCm39) E4382A possibly damaging Het
Galnt5 T G 2: 57,888,505 (GRCm39) L35R probably damaging Het
Gfpt2 G A 11: 49,726,605 (GRCm39) probably null Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gm14496 A T 2: 181,636,872 (GRCm39) H110L probably benign Het
Golm1 A G 13: 59,790,167 (GRCm39) V211A probably benign Het
Gsc2 TGCAGCAGCAGCAGCAG TGCAGCAGCAGCAG 16: 17,732,666 (GRCm39) probably benign Het
Ighv1-72 A T 12: 115,722,017 (GRCm39) M7K probably benign Het
Igkv12-44 C T 6: 69,791,639 (GRCm39) C108Y possibly damaging Het
Lum T C 10: 97,404,815 (GRCm39) S237P probably damaging Het
Macf1 T C 4: 123,365,606 (GRCm39) K3052E probably damaging Het
Mdn1 A G 4: 32,707,475 (GRCm39) E1588G probably damaging Het
Ndst3 T C 3: 123,465,876 (GRCm39) Y32C probably damaging Het
Nucb2 A G 7: 116,126,902 (GRCm39) T172A probably benign Het
Pard3 G T 8: 128,200,877 (GRCm39) R978L probably damaging Het
Pcdha4 A G 18: 37,086,639 (GRCm39) probably null Het
Pgk2 A G 17: 40,519,149 (GRCm39) V93A probably damaging Het
Pik3c3 G A 18: 30,444,336 (GRCm39) M516I probably benign Het
Plxnb2 A G 15: 89,043,845 (GRCm39) F1336L probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l1 G C 12: 82,471,988 (GRCm39) G1323R possibly damaging Het
Sntg1 A T 1: 8,653,569 (GRCm39) probably null Het
Spef2 T C 15: 9,626,107 (GRCm39) K1153R probably benign Het
Strn3 C T 12: 51,673,914 (GRCm39) V566M probably damaging Het
Svep1 A G 4: 58,069,068 (GRCm39) F2906S possibly damaging Het
Tbc1d8 C T 1: 39,425,216 (GRCm39) V545M probably damaging Het
Tmem131 T C 1: 36,847,874 (GRCm39) probably benign Het
Tnfsf8 A G 4: 63,752,595 (GRCm39) S157P probably benign Het
Tubgcp5 G A 7: 55,455,077 (GRCm39) V258M probably benign Het
Vat1l G C 8: 114,932,543 (GRCm39) G30R possibly damaging Het
Vegfb T C 19: 6,963,446 (GRCm39) Y106C probably damaging Het
Vmn2r100 AAAACAGGAGTATTGATTGGAAAC AAAAC 17: 19,743,681 (GRCm39) probably null Het
Zc3h15 T C 2: 83,488,913 (GRCm39) V161A probably benign Het
Other mutations in Or52b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Or52b1 APN 7 104,978,589 (GRCm39) missense possibly damaging 0.95
IGL01403:Or52b1 APN 7 104,978,605 (GRCm39) missense probably benign 0.01
IGL01546:Or52b1 APN 7 104,978,899 (GRCm39) missense probably damaging 1.00
IGL02936:Or52b1 APN 7 104,979,212 (GRCm39) nonsense probably null
R0206:Or52b1 UTSW 7 104,979,090 (GRCm39) missense possibly damaging 0.76
R0206:Or52b1 UTSW 7 104,979,090 (GRCm39) missense possibly damaging 0.76
R1425:Or52b1 UTSW 7 104,978,922 (GRCm39) missense probably damaging 1.00
R1911:Or52b1 UTSW 7 104,978,590 (GRCm39) missense probably benign 0.11
R2126:Or52b1 UTSW 7 104,978,459 (GRCm39) nonsense probably null
R2511:Or52b1 UTSW 7 104,978,817 (GRCm39) missense probably damaging 1.00
R2919:Or52b1 UTSW 7 104,979,067 (GRCm39) missense probably damaging 1.00
R3755:Or52b1 UTSW 7 104,979,358 (GRCm39) missense probably damaging 1.00
R4152:Or52b1 UTSW 7 104,978,592 (GRCm39) missense probably damaging 1.00
R4153:Or52b1 UTSW 7 104,978,592 (GRCm39) missense probably damaging 1.00
R4247:Or52b1 UTSW 7 104,979,355 (GRCm39) missense probably benign
R5015:Or52b1 UTSW 7 104,978,811 (GRCm39) missense possibly damaging 0.61
R5143:Or52b1 UTSW 7 104,978,731 (GRCm39) missense probably damaging 1.00
R5642:Or52b1 UTSW 7 104,978,772 (GRCm39) missense probably damaging 1.00
R6747:Or52b1 UTSW 7 104,979,234 (GRCm39) missense probably benign 0.00
R6961:Or52b1 UTSW 7 104,978,913 (GRCm39) missense probably damaging 1.00
R7074:Or52b1 UTSW 7 104,978,475 (GRCm39) missense probably benign 0.44
R8066:Or52b1 UTSW 7 104,978,761 (GRCm39) missense possibly damaging 0.87
R9273:Or52b1 UTSW 7 104,978,646 (GRCm39) missense probably damaging 1.00
R9314:Or52b1 UTSW 7 104,979,081 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTAAGACAGCTTTGTGAACTGTG -3'
(R):5'- CATCACTGTCAATATCTGGTATGGC -3'

Sequencing Primer
(F):5'- GTGAACTGTGACTGCTCTCAAGAC -3'
(R):5'- ATGGCTTCTCGGTGCCAATG -3'
Posted On 2015-05-14