Incidental Mutation 'R3925:Or52n1'
ID 474854
Institutional Source Beutler Lab
Gene Symbol Or52n1
Ensembl Gene ENSMUSG00000051885
Gene Name olfactory receptor family 52 subfamily N member 1, pseudogene 1
Synonyms EG667918, Olfr664, MOR34-10P, GA_x6K02T2PBJ9-7361631-7360711
MMRRC Submission 040916-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R3925 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104382592-104383557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104383396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 58 (E58D)
Ref Sequence ENSEMBL: ENSMUSP00000147645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072887] [ENSMUST00000211596]
AlphaFold Q7TRP5
Predicted Effect probably benign
Transcript: ENSMUST00000072887
AA Change: E54D

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000211596
AA Change: E58D

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,726,891 (GRCm39) T487I possibly damaging Het
Amn T C 12: 111,242,114 (GRCm39) V367A possibly damaging Het
Becn2 T C 1: 175,748,852 (GRCm39) V306A probably benign Het
C230029F24Rik AGAAAG A 1: 49,350,088 (GRCm39) noncoding transcript Het
Cdkl1 G T 12: 69,803,373 (GRCm39) R168S probably damaging Het
Cfap43 T C 19: 47,785,555 (GRCm39) K445R probably benign Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Eif4e G A 3: 138,261,198 (GRCm39) G164D probably damaging Het
Eno1 T C 4: 150,324,025 (GRCm39) probably null Het
Hmcn2 G A 2: 31,343,169 (GRCm39) R4565Q probably benign Het
Itgal A T 7: 126,923,709 (GRCm39) probably benign Het
Klhl1 A T 14: 96,584,316 (GRCm39) C305S possibly damaging Het
Ms4a2 A G 19: 11,596,312 (GRCm39) M139T probably benign Het
Nr2e3 C T 9: 59,855,716 (GRCm39) R213H probably damaging Het
Onecut2 A G 18: 64,474,591 (GRCm39) K381E probably damaging Het
Or2t43 T A 11: 58,457,652 (GRCm39) H173L probably benign Het
Or5t17 A G 2: 86,832,718 (GRCm39) Y135C possibly damaging Het
Pabpc1l T A 2: 163,869,596 (GRCm39) probably benign Het
Prim2 A G 1: 33,572,380 (GRCm39) L253P probably damaging Het
Pycr1 T C 11: 120,532,961 (GRCm39) T100A probably benign Het
Qrfpr T C 3: 36,276,072 (GRCm39) N106S possibly damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Selenoi T A 5: 30,461,086 (GRCm39) D107E probably damaging Het
Synrg C T 11: 83,931,725 (GRCm39) P1321S probably benign Het
Trgv7 A G 13: 19,362,644 (GRCm39) Y111C probably damaging Het
Trp53rkb A G 2: 166,637,392 (GRCm39) Y116C probably damaging Het
Usp34 T A 11: 23,293,640 (GRCm39) F245I probably benign Het
Utrn C T 10: 12,573,786 (GRCm39) V1095I probably benign Het
Xpnpep1 T C 19: 52,980,128 (GRCm39) H632R probably damaging Het
Zfp735 T C 11: 73,601,950 (GRCm39) I298T probably benign Het
Zfp953 T A 13: 67,496,002 (GRCm39) Y13F probably damaging Het
Other mutations in Or52n1
AlleleSourceChrCoordTypePredicted EffectPPH Score
A9681:Or52n1 UTSW 7 104,383,610 (GRCm39) unclassified probably benign
R2862:Or52n1 UTSW 7 104,383,425 (GRCm39) missense probably benign
R3923:Or52n1 UTSW 7 104,383,396 (GRCm39) missense probably benign 0.07
R4327:Or52n1 UTSW 7 104,382,833 (GRCm39) missense probably damaging 1.00
R6226:Or52n1 UTSW 7 104,383,243 (GRCm39) missense probably damaging 0.98
R6370:Or52n1 UTSW 7 104,383,124 (GRCm39) missense probably benign 0.03
R7283:Or52n1 UTSW 7 104,382,800 (GRCm39) missense probably damaging 1.00
R7397:Or52n1 UTSW 7 104,382,815 (GRCm39) missense possibly damaging 0.46
R7554:Or52n1 UTSW 7 104,383,074 (GRCm39) missense probably benign
R8732:Or52n1 UTSW 7 104,383,115 (GRCm39) missense probably benign 0.00
R8977:Or52n1 UTSW 7 104,383,248 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2017-04-14