Incidental Mutation 'R5573:Or52r1b'
ID 435778
Institutional Source Beutler Lab
Gene Symbol Or52r1b
Ensembl Gene ENSMUSG00000073961
Gene Name olfactory receptor family 52 subfamily R member 1B
Synonyms MOR30-3, Olfr582, GA_x6K02T2PBJ9-5752857-5753801
MMRRC Submission 043128-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5573 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102690688-102691647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102691547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 282 (Y282F)
Ref Sequence ENSEMBL: ENSMUSP00000149453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098212] [ENSMUST00000210119] [ENSMUST00000211036] [ENSMUST00000214021]
AlphaFold Q8VGV9
Predicted Effect probably damaging
Transcript: ENSMUST00000098212
AA Change: Y287F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095813
Gene: ENSMUSG00000073961
AA Change: Y287F

DomainStartEndE-ValueType
Pfam:7tm_4 38 317 2.2e-109 PFAM
Pfam:7TM_GPCR_Srsx 42 179 1.6e-10 PFAM
Pfam:7tm_1 48 299 1.9e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210119
AA Change: Y282F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211036
AA Change: Y282F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214021
AA Change: Y282F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 94.9%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef28 A T 13: 98,065,999 (GRCm39) V1618D probably benign Het
Asic5 T A 3: 81,911,791 (GRCm39) F129Y probably benign Het
Cachd1 A C 4: 100,831,276 (GRCm39) K689N probably damaging Het
Cbfa2t2 A G 2: 154,278,782 (GRCm39) probably benign Het
Cdh26 T C 2: 178,108,482 (GRCm39) V360A probably damaging Het
Col9a3 C T 2: 180,261,525 (GRCm39) A605V probably benign Het
Csn3 A G 5: 88,077,910 (GRCm39) T139A probably benign Het
Ddx27 G T 2: 166,859,806 (GRCm39) K79N possibly damaging Het
Dhx29 G A 13: 113,069,749 (GRCm39) D211N probably benign Het
Dlg2 A G 7: 91,646,532 (GRCm39) probably null Het
Dse C A 10: 34,028,678 (GRCm39) R804L probably benign Het
Fgb T C 3: 82,956,984 (GRCm39) probably null Het
Gm11011 A T 2: 169,429,392 (GRCm39) I31K unknown Het
Hira A G 16: 18,735,349 (GRCm39) T272A probably damaging Het
Lcmt1 T A 7: 123,000,686 (GRCm39) H117Q probably benign Het
Mettl23 A G 11: 116,734,437 (GRCm39) probably benign Het
Mtmr2 T C 9: 13,704,463 (GRCm39) Y197H probably benign Het
Myo9a T G 9: 59,778,284 (GRCm39) S1347A probably benign Het
Myrfl A G 10: 116,658,661 (GRCm39) V432A probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Obscn G T 11: 58,925,531 (GRCm39) H6347Q possibly damaging Het
Or8b53 T A 9: 38,667,000 (GRCm39) N5K probably damaging Het
Peg10 A G 6: 4,755,913 (GRCm39) probably benign Het
Pfkfb3 A G 2: 11,506,483 (GRCm39) V10A probably benign Het
Phf12 A G 11: 77,915,871 (GRCm39) D175G probably damaging Het
Plekhg6 T G 6: 125,352,755 (GRCm39) I131L possibly damaging Het
Ptbp3 A G 4: 59,485,626 (GRCm39) V95A probably damaging Het
Rbbp8 A G 18: 11,855,664 (GRCm39) T604A probably benign Het
Rbbp8nl G A 2: 179,921,586 (GRCm39) P266L possibly damaging Het
Ryr1 T C 7: 28,715,148 (GRCm39) S4659G unknown Het
Serpinb9d A G 13: 33,380,423 (GRCm39) probably null Het
Slc22a28 A C 19: 8,048,462 (GRCm39) I395S possibly damaging Het
Slco6c1 T A 1: 97,055,656 (GRCm39) I82L probably benign Het
Sptan1 C T 2: 29,876,504 (GRCm39) R295* probably null Het
Tdrd9 C T 12: 111,964,336 (GRCm39) probably null Het
Ube2v2 A G 16: 15,374,343 (GRCm39) L77P possibly damaging Het
Ugt3a1 T C 15: 9,361,769 (GRCm39) S182P probably damaging Het
Vwa5b1 T C 4: 138,336,201 (GRCm39) E131G probably damaging Het
Wdr18 C T 10: 79,800,872 (GRCm39) A145V probably benign Het
Xpnpep1 A G 19: 52,993,253 (GRCm39) I358T probably damaging Het
Zfp946 T A 17: 22,673,676 (GRCm39) C143* probably null Het
Other mutations in Or52r1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Or52r1b APN 7 102,691,357 (GRCm39) missense probably damaging 1.00
IGL02236:Or52r1b APN 7 102,690,928 (GRCm39) missense possibly damaging 0.78
IGL02448:Or52r1b APN 7 102,691,604 (GRCm39) missense possibly damaging 0.84
IGL03056:Or52r1b APN 7 102,690,958 (GRCm39) missense possibly damaging 0.87
IGL03351:Or52r1b APN 7 102,691,337 (GRCm39) missense probably damaging 1.00
IGL03368:Or52r1b APN 7 102,690,972 (GRCm39) missense possibly damaging 0.93
R1762:Or52r1b UTSW 7 102,691,249 (GRCm39) missense probably damaging 1.00
R2027:Or52r1b UTSW 7 102,690,731 (GRCm39) missense probably benign 0.36
R3758:Or52r1b UTSW 7 102,691,177 (GRCm39) missense probably benign 0.09
R4668:Or52r1b UTSW 7 102,691,058 (GRCm39) missense probably benign
R5568:Or52r1b UTSW 7 102,691,517 (GRCm39) missense possibly damaging 0.72
R6005:Or52r1b UTSW 7 102,690,853 (GRCm39) missense probably damaging 0.98
R7112:Or52r1b UTSW 7 102,690,862 (GRCm39) missense probably damaging 0.98
R7223:Or52r1b UTSW 7 102,690,839 (GRCm39) missense possibly damaging 0.65
R7875:Or52r1b UTSW 7 102,691,060 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCTGAGAGCTGTGCTGAG -3'
(R):5'- GTTTTCAACTTGTAGGATACCTGTCC -3'

Sequencing Primer
(F):5'- AGGTTGCCCTCAGGTGAAG -3'
(R):5'- CGTAATAAACCTGTGAAGTGTTTCTC -3'
Posted On 2016-10-24