Incidental Mutation 'R5706:Or52u1'
ID 451974
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 043331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5706 (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 104237097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 46 (S46A)
Ref Sequence ENSEMBL: ENSMUSP00000095775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098173] [ENSMUST00000210457] [ENSMUST00000213984] [ENSMUST00000215585] [ENSMUST00000217466]
AlphaFold Q8VF27
Predicted Effect probably benign
Transcript: ENSMUST00000098173
AA Change: S46A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000095775
Gene: ENSMUSG00000073925
AA Change: S46A

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 benign
Transcript: ENSMUST00000210457
AA Change: S29A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000213984
AA Change: S29A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000215585
Predicted Effect probably benign
Transcript: ENSMUST00000217466
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,847,910 (GRCm39) M77K probably benign Het
Amy1 A G 3: 113,349,769 (GRCm39) V467A probably damaging Het
Atf4 T C 15: 80,140,531 (GRCm39) V11A possibly damaging Het
B4galt1 T C 4: 40,807,268 (GRCm39) N373D probably damaging Het
Bpifa3 A G 2: 153,977,498 (GRCm39) K112R probably damaging Het
Chd2 T A 7: 73,141,105 (GRCm39) Y596F possibly damaging Het
Clspn T C 4: 126,472,211 (GRCm39) S962P probably damaging Het
Cyp2c68 T C 19: 39,722,762 (GRCm39) D262G possibly damaging Het
Dcaf11 T C 14: 55,803,152 (GRCm39) I282T probably damaging Het
Dmxl1 T C 18: 50,090,462 (GRCm39) probably null Het
Dnah11 T G 12: 117,987,670 (GRCm39) K2411Q probably damaging Het
Elf3 A G 1: 135,184,220 (GRCm39) V196A probably benign Het
Fhad1 T G 4: 141,681,427 (GRCm39) T538P probably damaging Het
Fkbp10 A G 11: 100,311,849 (GRCm39) D174G probably damaging Het
Gas6 A G 8: 13,527,098 (GRCm39) S217P probably damaging Het
Heatr5b C T 17: 79,074,304 (GRCm39) probably null Het
Iqgap3 A G 3: 88,023,215 (GRCm39) E502G probably benign Het
Klc1 T C 12: 111,762,061 (GRCm39) V577A possibly damaging Het
Lck T C 4: 129,445,431 (GRCm39) probably null Het
Mc3r C A 2: 172,091,610 (GRCm39) Y277* probably null Het
Mlxipl T C 5: 135,162,458 (GRCm39) V640A probably benign Het
Mrc2 A T 11: 105,223,169 (GRCm39) N471Y probably damaging Het
Ncan T A 8: 70,554,667 (GRCm39) H1050L probably damaging Het
Nrl C A 14: 55,759,889 (GRCm39) V13F probably damaging Het
Obscn T A 11: 58,967,082 (GRCm39) Y546F probably damaging Het
Or6c209 A G 10: 129,483,960 (GRCm39) probably null Het
Or6d14 A G 6: 116,534,074 (GRCm39) I229M probably damaging Het
Pde3b G A 7: 114,120,927 (GRCm39) G684D probably damaging Het
Prkaa1 C T 15: 5,203,823 (GRCm39) T244I probably benign Het
Scfd2 A T 5: 74,367,059 (GRCm39) probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smg1 A T 7: 117,744,813 (GRCm39) V3113D possibly damaging Het
Sorbs1 T C 19: 40,365,325 (GRCm39) T153A probably benign Het
Spag16 A G 1: 69,909,448 (GRCm39) T182A probably benign Het
Spopfm1 T A 3: 94,173,959 (GRCm39) H322Q possibly damaging Het
Svs5 T C 2: 164,079,589 (GRCm39) K106R possibly damaging Het
Tenm1 A G X: 42,163,572 (GRCm39) V107A possibly damaging Het
Topaz1 A T 9: 122,628,550 (GRCm39) I1546F possibly damaging Het
Tubgcp2 C A 7: 139,612,138 (GRCm39) E78* probably null Het
Vars1 A G 17: 35,224,457 (GRCm39) probably null Het
Vmn2r109 A T 17: 20,774,567 (GRCm39) W263R probably benign 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
R0647:Or52u1 UTSW 7 104,237,322 (GRCm39) missense probably damaging 1.00
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
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'- ACAGTGCCTGGCTGCTTAAC -3'
(R):5'- ATGCAGAGCACCTTAGGAATGG -3'

Sequencing Primer
(F):5'- AGTGCCTGGCTGCTTAACATATAC -3'
(R):5'- CACCTTAGGAATGGTGGTCGTAGAC -3'
Posted On 2017-01-03