Incidental Mutation 'R0941:Or52u1'
ID 82583
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 039080-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0941 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104236926-104238081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104237545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 178 (T178I)
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: T195I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095775
Gene: ENSMUSG00000073925
AA Change: T195I

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: T178I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213984
AA Change: T178I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215585
Predicted Effect probably benign
Transcript: ENSMUST00000217466
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 97% (36/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 G T 18: 74,931,414 (GRCm39) M203I probably benign Het
Afmid T A 11: 117,726,071 (GRCm39) probably benign Het
Ahnak A G 19: 8,987,278 (GRCm39) D2854G probably damaging Het
Amotl1 A C 9: 14,507,854 (GRCm39) I31S possibly damaging Het
Arf3 A G 15: 98,638,984 (GRCm39) V91A probably benign Het
Atp1b1 A C 1: 164,270,829 (GRCm39) I50S probably benign Het
Baz1a A T 12: 54,945,216 (GRCm39) S1380T probably benign Het
C4b T A 17: 34,959,029 (GRCm39) T467S probably benign Het
Casd1 T C 6: 4,635,848 (GRCm39) S640P probably damaging Het
Col4a1 C T 8: 11,258,296 (GRCm39) G1396S unknown Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fhip1a G T 3: 85,580,366 (GRCm39) P613Q probably benign Het
Gm12695 C A 4: 96,616,454 (GRCm39) E460* probably null Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Igsf8 C T 1: 172,143,963 (GRCm39) R39C probably damaging Het
Kdm3b T A 18: 34,936,605 (GRCm39) C296S probably damaging Het
Lama1 C T 17: 68,082,860 (GRCm39) P1373S probably benign Het
Lamc1 A G 1: 153,208,020 (GRCm39) L89P possibly damaging Het
Ltc4s T G 11: 50,128,269 (GRCm39) probably null Het
Met A T 6: 17,491,393 (GRCm39) I52F probably damaging Het
Mterf2 G A 10: 84,955,934 (GRCm39) T230M possibly damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Npr1 A T 3: 90,368,716 (GRCm39) I448N probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Serpini1 A T 3: 75,523,934 (GRCm39) I181F probably damaging Het
Shc3 T C 13: 51,634,242 (GRCm39) M88V probably benign Het
Skint6 T A 4: 113,095,555 (GRCm39) S35C probably damaging Het
Spta1 T C 1: 174,072,771 (GRCm39) probably benign Het
Sult2a2 C T 7: 13,468,815 (GRCm39) R94* probably null Het
Trim9 A G 12: 70,295,037 (GRCm39) V787A probably damaging Het
Ttn A G 2: 76,549,367 (GRCm39) V31770A probably benign Het
Unc5d T C 8: 29,249,055 (GRCm39) N337D possibly damaging Het
Vmn2r7 A T 3: 64,624,000 (GRCm39) Y107N 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
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'- ACCACCATTCCTAAGGTGCTCTGC -3'
(R):5'- ATGCCTCTCCCAAAGCGATGAGTC -3'

Sequencing Primer
(F):5'- TCAGATAAGCTATGAAGGCTGC -3'
(R):5'- CATGACACAGATGTGTGTGG -3'
Posted On 2013-11-08