Incidental Mutation 'R7076:Or52u1'
ID 549215
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 045171-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R7076 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 104236926-104238081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104237430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 140 (S140C)
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: S157C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095775
Gene: ENSMUSG00000073925
AA Change: S157C

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: S140C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000213984
AA Change: S140C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000215585
Predicted Effect probably benign
Transcript: ENSMUST00000217466
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A G 8: 56,324,694 (GRCm39) C587R probably damaging Het
Adgrg7 T C 16: 56,562,769 (GRCm39) T523A probably damaging Het
Arrdc3 A T 13: 81,038,815 (GRCm39) K259M probably damaging Het
Becn1 A T 11: 101,186,150 (GRCm39) N151K probably benign Het
Cars2 C T 8: 11,579,649 (GRCm39) E270K probably damaging Het
Ccp110 C A 7: 118,331,628 (GRCm39) P943Q probably damaging Het
Ccser2 A G 14: 36,661,786 (GRCm39) I466T probably benign Het
Cd164 A G 10: 41,399,193 (GRCm39) E94G probably benign Het
Cdon C T 9: 35,415,446 (GRCm39) T1228I probably benign Het
Cubn C A 2: 13,311,091 (GRCm39) V3145L probably benign Het
Cubn T A 2: 13,311,092 (GRCm39) K3144N probably benign Het
Dchs1 A G 7: 105,411,078 (GRCm39) V1649A probably benign Het
Dgka A T 10: 128,569,452 (GRCm39) D153E probably damaging Het
Dip2b A G 15: 100,055,853 (GRCm39) probably null Het
Dnajc21 T C 15: 10,449,717 (GRCm39) T435A probably benign Het
F830016B08Rik A T 18: 60,433,543 (GRCm39) I209F probably damaging Het
Ghdc C A 11: 100,660,540 (GRCm39) S111I possibly damaging Het
Gm19965 T C 1: 116,749,005 (GRCm39) C229R Het
Gpm6a C T 8: 55,490,486 (GRCm39) T54I probably damaging Het
Gpr171 G T 3: 59,005,577 (GRCm39) A66E probably damaging Het
Grm7 A G 6: 111,335,113 (GRCm39) D508G probably benign Het
Has1 G A 17: 18,064,068 (GRCm39) R524C probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv3-8 A T 12: 114,286,402 (GRCm39) L7Q probably damaging Het
Ints10 A T 8: 69,249,403 (GRCm39) R78* probably null Het
Itpr1 A G 6: 108,365,257 (GRCm39) I903V probably benign Het
Lrp1 A G 10: 127,386,052 (GRCm39) probably null Het
Mki67 A G 7: 135,307,358 (GRCm39) V132A probably damaging Het
Myh4 A G 11: 67,143,999 (GRCm39) E1123G possibly damaging Het
Neurog3 A G 10: 61,969,359 (GRCm39) T40A probably benign Het
Nipsnap3b T A 4: 53,021,095 (GRCm39) probably null Het
Nr4a3 G A 4: 48,055,957 (GRCm39) V328I probably damaging Het
Or11g27 T A 14: 50,771,278 (GRCm39) Y136* probably null Het
Or2d36 T C 7: 106,747,236 (GRCm39) F238L probably damaging Het
Or5af2 G A 11: 58,707,990 (GRCm39) R52Q probably benign Het
Or5b124 G T 19: 13,611,244 (GRCm39) M256I possibly damaging Het
Or5p63 A T 7: 107,811,205 (GRCm39) V177D probably damaging Het
Osbpl5 A G 7: 143,263,577 (GRCm39) L102P probably benign Het
Ppl C T 16: 4,917,983 (GRCm39) R503Q probably damaging Het
Ppp2r2d T C 7: 138,478,326 (GRCm39) M321T possibly damaging Het
Prex1 T C 2: 166,475,302 (GRCm39) Y197C probably damaging Het
Prss32 A G 17: 24,072,895 (GRCm39) D42G possibly damaging Het
Ralgapa1 T C 12: 55,768,361 (GRCm39) E1210G possibly damaging Het
Sdr16c5 A G 4: 4,006,591 (GRCm39) C234R probably damaging Het
Slc23a4 A G 6: 34,933,819 (GRCm39) S95P probably damaging Het
Srp14 T C 2: 118,309,871 (GRCm39) T29A probably damaging Het
Tet2 T A 3: 133,172,784 (GRCm39) H1826L possibly damaging Het
Tfr2 A T 5: 137,581,836 (GRCm39) Y641F probably damaging Het
Tmco5b A G 2: 113,117,766 (GRCm39) N27D probably damaging Het
Tvp23a T C 16: 10,246,599 (GRCm39) D62G probably benign Het
Usp12 A G 5: 146,674,562 (GRCm39) F347S possibly damaging Het
Zfp407 A T 18: 84,576,601 (GRCm39) L1504Q probably damaging Het
Zfp524 A G 7: 5,020,895 (GRCm39) D141G possibly damaging Het
Zfp68 A G 5: 138,605,201 (GRCm39) I374T possibly damaging Het
Zfp758 C T 17: 22,594,137 (GRCm39) H208Y probably benign Het
Zfp804b T C 5: 6,819,751 (GRCm39) H1104R probably benign Het
Znrf2 T A 6: 54,819,680 (GRCm39) *75K probably null Het
Zzef1 T C 11: 72,790,385 (GRCm39) V2113A 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
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
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'- CTAAGGTGCTCTGCATATTCTGG -3'
(R):5'- TGAGGCAATAGCTGAGATGTC -3'

Sequencing Primer
(F):5'- TCTGGTTTGGACAGAGTCAGATAAGC -3'
(R):5'- GGCAATAGCTGAGATGTCTACCC -3'
Posted On 2019-05-15