Incidental Mutation 'R0647:Or52u1'
ID 57262
Institutional Source Beutler Lab
Gene Symbol Or52u1
Ensembl Gene ENSMUSG00000073925
Gene Name olfactory receptor family 52 subfamily U member 1
Synonyms MOR38-2, Olfr654, GA_x6K02T2PBJ9-7215221-7216195
MMRRC Submission 038832-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0647 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104236926-104238081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 104237322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 104 (F104V)
Ref Sequence ENSEMBL: ENSMUSP00000149640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098173] [ENSMUST00000210457] [ENSMUST00000213984] [ENSMUST00000215585] [ENSMUST00000217466]
AlphaFold Q8VF27
Predicted Effect probably damaging
Transcript: ENSMUST00000098173
AA Change: F121V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095775
Gene: ENSMUSG00000073925
AA Change: F121V

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
Pfam:7TM_GPCR_Srbc 43 176 2.5e-8 PFAM
Pfam:7tm_4 49 328 1.7e-103 PFAM
Pfam:7TM_GPCR_Srsx 53 325 1.6e-7 PFAM
Pfam:7tm_1 59 310 9.2e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210457
AA Change: F104V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213984
AA Change: F104V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215585
Predicted Effect probably benign
Transcript: ENSMUST00000217466
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 C A 11: 50,494,265 (GRCm39) T113K probably damaging Het
Adgre1 T A 17: 57,718,003 (GRCm39) N338K probably damaging Het
Aggf1 A T 13: 95,508,164 (GRCm39) probably null Het
Apc2 A T 10: 80,140,762 (GRCm39) I206F probably damaging Het
Carmil3 T C 14: 55,739,892 (GRCm39) probably null Het
Ccdc110 A C 8: 46,396,425 (GRCm39) E772A probably damaging Het
Cdh23 A G 10: 60,143,681 (GRCm39) F2977L probably damaging Het
Cdh23 A T 10: 60,159,153 (GRCm39) Y2207* probably null Het
Cfap20dc T A 14: 8,536,655 (GRCm38) D184V possibly damaging Het
Chd4 T A 6: 125,086,086 (GRCm39) N908K probably damaging Het
Chst9 A G 18: 15,585,726 (GRCm39) I279T probably damaging Het
Ctnna3 A T 10: 63,656,203 (GRCm39) N261I probably benign Het
Dlgap2 A T 8: 14,777,591 (GRCm39) S279C possibly damaging Het
Dock4 G A 12: 40,760,883 (GRCm39) E524K probably damaging Het
Fabp12 T A 3: 10,311,096 (GRCm39) N122I possibly damaging Het
Fam184b T C 5: 45,741,932 (GRCm39) T100A probably benign Het
Fbxl5 T C 5: 43,925,411 (GRCm39) D176G probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Foxe1 A G 4: 46,344,477 (GRCm39) N95S possibly damaging Het
Frem3 A G 8: 81,341,814 (GRCm39) E1369G probably damaging Het
Frmpd4 C T X: 166,272,006 (GRCm39) E483K probably damaging Het
Gbp11 T C 5: 105,478,830 (GRCm39) K203E possibly damaging Het
Hs3st6 C T 17: 24,977,134 (GRCm39) R205C probably damaging Het
Ifitm10 C T 7: 141,909,772 (GRCm39) S179N probably damaging Het
Irx2 A C 13: 72,778,799 (GRCm39) N121T probably damaging Het
Itih1 A T 14: 30,657,820 (GRCm39) V417E probably damaging Het
Itpr1 A C 6: 108,360,659 (GRCm39) E695A probably damaging Het
Kif1c T A 11: 70,616,967 (GRCm39) I755K probably damaging Het
Lamb3 A G 1: 193,013,104 (GRCm39) E443G probably damaging Het
Lrp1 G C 10: 127,407,346 (GRCm39) T1865R probably damaging Het
Lrrc8b T A 5: 105,628,473 (GRCm39) I273K possibly damaging Het
Ly9 T C 1: 171,427,376 (GRCm39) Y393C probably damaging Het
Mphosph8 T C 14: 56,911,862 (GRCm39) V295A probably benign Het
Nlrp5 T A 7: 23,117,132 (GRCm39) D269E probably damaging Het
Or1r1 G A 11: 73,874,597 (GRCm39) A279V probably damaging Het
Or2t6 T G 14: 14,175,858 (GRCm38) T75P probably benign Het
Or4k44 A G 2: 111,367,704 (GRCm39) V310A probably benign Het
Or5p50 T A 7: 107,422,218 (GRCm39) I153F probably benign Het
Otud3 A G 4: 138,640,948 (GRCm39) L64P probably damaging Het
Pcdh17 A T 14: 84,685,213 (GRCm39) H560L possibly damaging Het
Pcdhb21 T C 18: 37,646,913 (GRCm39) V14A probably damaging Het
Prss3l A T 6: 41,420,275 (GRCm39) F150L probably benign Het
Rbfox1 A T 16: 7,042,248 (GRCm39) Q14L probably damaging Het
Rbm44 A G 1: 91,084,650 (GRCm39) D665G probably benign Het
Rc3h2 C T 2: 37,299,542 (GRCm39) V163M probably damaging Het
Sash1 T A 10: 8,605,316 (GRCm39) R1025W probably damaging Het
Sgpl1 A G 10: 60,949,267 (GRCm39) S146P probably damaging Het
Slc27a2 G A 2: 126,429,836 (GRCm39) D615N probably benign Het
Smap1 A G 1: 23,892,559 (GRCm39) I135T probably damaging Het
Snapc3 A G 4: 83,368,466 (GRCm39) D321G probably damaging Het
St6galnac4 C T 2: 32,479,460 (GRCm39) R6C probably damaging Het
Syne2 C T 12: 75,934,977 (GRCm39) P153L probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Tmem94 A G 11: 115,687,621 (GRCm39) N1160S probably damaging Het
Trim65 G A 11: 116,019,036 (GRCm39) R168C possibly damaging Het
Txndc16 A T 14: 45,406,732 (GRCm39) I241N probably damaging Het
Txndc16 T A 14: 45,402,818 (GRCm39) R101* probably null Het
Ugt2b38 A G 5: 87,571,328 (GRCm39) S235P probably benign Het
Ugt3a1 A T 15: 9,310,635 (GRCm39) M306L probably benign Het
Vmn1r23 T A 6: 57,903,169 (GRCm39) Y203F probably benign Het
Vmn2r3 T A 3: 64,183,046 (GRCm39) I218F probably damaging Het
Wdfy4 A G 14: 32,831,656 (GRCm39) C857R possibly damaging Het
Zfp493 A C 13: 67,931,994 (GRCm39) K31T possibly damaging Het
Other mutations in Or52u1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Or52u1 APN 7 104,237,067 (GRCm39) missense probably damaging 1.00
IGL01677:Or52u1 APN 7 104,237,352 (GRCm39) missense probably damaging 0.97
IGL01807:Or52u1 APN 7 104,237,091 (GRCm39) missense probably damaging 1.00
IGL03113:Or52u1 APN 7 104,237,940 (GRCm39) missense probably benign 0.01
R0504:Or52u1 UTSW 7 104,237,682 (GRCm39) nonsense probably null
R0941:Or52u1 UTSW 7 104,237,545 (GRCm39) missense probably damaging 1.00
R0945:Or52u1 UTSW 7 104,237,879 (GRCm39) missense probably damaging 1.00
R1423:Or52u1 UTSW 7 104,237,682 (GRCm39) nonsense probably null
R1860:Or52u1 UTSW 7 104,237,112 (GRCm39) missense probably damaging 0.98
R2872:Or52u1 UTSW 7 104,237,700 (GRCm39) missense possibly damaging 0.87
R2872:Or52u1 UTSW 7 104,237,700 (GRCm39) missense possibly damaging 0.87
R4082:Or52u1 UTSW 7 104,237,830 (GRCm39) missense probably damaging 1.00
R4760:Or52u1 UTSW 7 104,237,696 (GRCm39) missense probably benign 0.32
R4787:Or52u1 UTSW 7 104,237,167 (GRCm39) missense probably benign
R4969:Or52u1 UTSW 7 104,237,730 (GRCm39) missense probably damaging 1.00
R5186:Or52u1 UTSW 7 104,237,418 (GRCm39) missense probably damaging 1.00
R5706:Or52u1 UTSW 7 104,237,097 (GRCm39) missense probably benign 0.02
R6582:Or52u1 UTSW 7 104,237,218 (GRCm39) missense probably damaging 1.00
R7076:Or52u1 UTSW 7 104,237,430 (GRCm39) missense probably damaging 1.00
R7155:Or52u1 UTSW 7 104,237,764 (GRCm39) missense possibly damaging 0.88
R7424:Or52u1 UTSW 7 104,237,907 (GRCm39) missense probably damaging 1.00
R7559:Or52u1 UTSW 7 104,237,087 (GRCm39) missense probably damaging 1.00
R7722:Or52u1 UTSW 7 104,237,505 (GRCm39) missense possibly damaging 0.77
Z1177:Or52u1 UTSW 7 104,237,211 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGGAACTGCACCATTCTTCTCAC -3'
(R):5'- ACTCGATTGGCATGAAAGGGCATAC -3'

Sequencing Primer
(F):5'- GCACCATTCTTCTCACCATCTC -3'
(R):5'- CATGAAAGGGCATACGCTGG -3'
Posted On 2013-07-11