Incidental Mutation 'R7251:Or52a33'
ID 563928
Institutional Source Beutler Lab
Gene Symbol Or52a33
Ensembl Gene ENSMUSG00000050085
Gene Name olfactory receptor family 52 subfamily A member 33
Synonyms GA_x6K02T2PBJ9-6362863-6361910, MOR26-1, Olfr622
MMRRC Submission 045313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R7251 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103288392-103289345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103288909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 146 (G146D)
Ref Sequence ENSEMBL: ENSMUSP00000150390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058744] [ENSMUST00000213536] [ENSMUST00000216570]
AlphaFold Q8VGY7
Predicted Effect probably damaging
Transcript: ENSMUST00000058744
AA Change: G146D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058312
Gene: ENSMUSG00000050085
AA Change: G146D

DomainStartEndE-ValueType
Pfam:7tm_4 32 312 4.2e-100 PFAM
Pfam:7TM_GPCR_Srsx 36 308 2.3e-6 PFAM
Pfam:7tm_1 42 293 6.1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213536
AA Change: G146D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216570
AA Change: G146D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Adamts19 A T 18: 58,970,974 (GRCm39) D186V probably damaging Het
Agrn T C 4: 156,259,063 (GRCm39) D884G probably damaging Het
Akr1c6 T A 13: 4,497,019 (GRCm39) C154S probably damaging Het
Apob T C 12: 8,057,037 (GRCm39) Y1840H probably damaging Het
Arfgef1 T C 1: 10,269,200 (GRCm39) E399G possibly damaging Het
Arg2 G A 12: 79,197,572 (GRCm39) G197S probably damaging Het
Arhgap32 T C 9: 32,119,481 (GRCm39) V308A probably damaging Het
Atcay A T 10: 81,046,366 (GRCm39) C319* probably null Het
Bend4 C G 5: 67,584,876 (GRCm39) R16P unknown Het
Braf A G 6: 39,654,504 (GRCm39) probably null Het
Camsap1 T C 2: 25,828,898 (GRCm39) E942G probably damaging Het
Cdpf1 C T 15: 85,693,494 (GRCm39) G11D probably damaging Het
Cgn T C 3: 94,683,509 (GRCm39) E382G possibly damaging Het
Cndp1 T A 18: 84,640,322 (GRCm39) E294D probably benign Het
Cnn1 T A 9: 22,019,513 (GRCm39) Y294N unknown Het
Cyp2ab1 A G 16: 20,134,646 (GRCm39) F104S possibly damaging Het
Cyp2t4 G A 7: 26,857,144 (GRCm39) V336M possibly damaging Het
D430041D05Rik T A 2: 104,051,511 (GRCm39) D782V probably damaging Het
Ddx39b A G 17: 35,472,464 (GRCm39) *429W probably null Het
Dgkb T C 12: 38,031,985 (GRCm39) S16P possibly damaging Het
Dll4 T C 2: 119,162,773 (GRCm39) C465R probably damaging Het
Dsp A G 13: 38,377,524 (GRCm39) I1770V probably benign Het
Fbxw11 A G 11: 32,681,370 (GRCm39) N250S probably benign Het
Fsip2 G A 2: 82,809,425 (GRCm39) V1915M possibly damaging Het
Greb1l G A 18: 10,515,319 (GRCm39) V704M probably damaging Het
Hgf T A 5: 16,798,942 (GRCm39) N323K possibly damaging Het
Hhatl A T 9: 121,614,116 (GRCm39) probably null Het
Hip1r T C 5: 124,132,813 (GRCm39) S204P probably damaging Het
Igsf10 T A 3: 59,226,875 (GRCm39) N2266I probably damaging Het
Krtap15-1 A G 16: 88,625,982 (GRCm39) probably null Het
Lrp1 T C 10: 127,408,423 (GRCm39) D1751G probably damaging Het
Madd A T 2: 90,992,521 (GRCm39) D1050E probably benign Het
Man1c1 C T 4: 134,308,147 (GRCm39) G323R probably damaging Het
Mgll A G 6: 88,800,357 (GRCm39) E252G probably benign Het
Muc2 A G 7: 141,278,965 (GRCm39) N145S possibly damaging Het
Ncoa2 C T 1: 13,218,599 (GRCm39) S1410N probably benign Het
Nek10 A G 14: 14,853,965 (GRCm38) T384A probably benign Het
Nexn T C 3: 151,952,832 (GRCm39) E310G probably damaging Het
Nol10 T C 12: 17,452,108 (GRCm39) L354P probably damaging Het
Npy4r T C 14: 33,868,872 (GRCm39) R139G probably damaging Het
Nup160 A G 2: 90,530,518 (GRCm39) E463G probably damaging Het
Or14c44 T C 7: 86,062,209 (GRCm39) V213A probably benign Het
Or8j3c G A 2: 86,253,940 (GRCm39) L27F probably benign Het
Pdzd8 A T 19: 59,289,077 (GRCm39) N774K possibly damaging Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pot1a T C 6: 25,752,497 (GRCm39) probably null Het
Ppip5k1 T A 2: 121,178,052 (GRCm39) E283D probably benign Het
Ptpn2 A C 18: 67,808,862 (GRCm39) I318R possibly damaging Het
Raph1 A G 1: 60,529,027 (GRCm39) F745L unknown Het
Rgs19 C T 2: 181,331,541 (GRCm39) V88I probably benign Het
Ripk4 A G 16: 97,544,449 (GRCm39) S733P probably benign Het
Rprd1b T A 2: 157,870,899 (GRCm39) W29R probably damaging Het
Rtkn A G 6: 83,112,943 (GRCm39) N5S probably damaging Het
Sh3bp5l A T 11: 58,232,128 (GRCm39) Q131L probably damaging Het
Slain2 T A 5: 73,131,891 (GRCm39) F461I possibly damaging Het
Stk24 A T 14: 121,545,434 (GRCm39) L108Q probably damaging Het
Syne3 TC T 12: 104,927,830 (GRCm39) probably null Het
Tapbpl A T 6: 125,203,558 (GRCm39) V374E probably damaging Het
Tax1bp1 A G 6: 52,698,341 (GRCm39) I18V possibly damaging Het
Tecta T A 9: 42,299,048 (GRCm39) I233F probably damaging Het
Tet3 A G 6: 83,381,038 (GRCm39) S377P probably benign Het
Uty A G Y: 1,154,262 (GRCm39) S721P probably benign Het
Wnk4 C A 11: 101,155,979 (GRCm39) T412K possibly damaging Het
Zdhhc11 G T 13: 74,140,216 (GRCm39) V336L probably benign Het
Zfp605 T A 5: 110,275,826 (GRCm39) S315T probably damaging Het
Zfp746 A G 6: 48,041,811 (GRCm39) L305P probably damaging Het
Other mutations in Or52a33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01445:Or52a33 APN 7 103,289,039 (GRCm39) missense probably damaging 1.00
IGL02972:Or52a33 APN 7 103,289,101 (GRCm39) missense probably damaging 1.00
PIT4434001:Or52a33 UTSW 7 103,289,054 (GRCm39) missense probably damaging 1.00
R1487:Or52a33 UTSW 7 103,288,801 (GRCm39) missense probably damaging 1.00
R1989:Or52a33 UTSW 7 103,288,702 (GRCm39) missense probably damaging 1.00
R3880:Or52a33 UTSW 7 103,288,831 (GRCm39) missense probably benign 0.33
R4595:Or52a33 UTSW 7 103,289,308 (GRCm39) missense probably damaging 1.00
R4989:Or52a33 UTSW 7 103,289,308 (GRCm39) missense probably damaging 1.00
R5715:Or52a33 UTSW 7 103,289,009 (GRCm39) missense probably damaging 1.00
R5840:Or52a33 UTSW 7 103,288,463 (GRCm39) missense probably benign 0.05
R6046:Or52a33 UTSW 7 103,288,886 (GRCm39) missense probably benign 0.01
R6207:Or52a33 UTSW 7 103,289,209 (GRCm39) missense probably benign 0.29
R6294:Or52a33 UTSW 7 103,288,798 (GRCm39) missense probably damaging 1.00
R6392:Or52a33 UTSW 7 103,288,889 (GRCm39) missense probably benign
R6522:Or52a33 UTSW 7 103,288,504 (GRCm39) missense probably damaging 1.00
R6996:Or52a33 UTSW 7 103,289,065 (GRCm39) missense probably benign 0.10
R7069:Or52a33 UTSW 7 103,289,167 (GRCm39) missense probably damaging 0.99
R7625:Or52a33 UTSW 7 103,289,165 (GRCm39) missense probably damaging 1.00
R8309:Or52a33 UTSW 7 103,288,658 (GRCm39) missense probably damaging 1.00
R8699:Or52a33 UTSW 7 103,288,822 (GRCm39) missense probably damaging 1.00
R8750:Or52a33 UTSW 7 103,289,059 (GRCm39) missense probably damaging 0.97
R8949:Or52a33 UTSW 7 103,288,702 (GRCm39) missense probably damaging 1.00
X0018:Or52a33 UTSW 7 103,288,805 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTATCACTGAAAGGGCCACTG -3'
(R):5'- CCTCTTCTGCAGCTCTGAAG -3'

Sequencing Primer
(F):5'- GGGCCACTGAAATTCCATATGCTC -3'
(R):5'- CAGCTCTGAAGATGCTTGGC -3'
Posted On 2019-06-26