Incidental Mutation 'R2272:Per3'
ID 242547
Institutional Source Beutler Lab
Gene Symbol Per3
Ensembl Gene ENSMUSG00000028957
Gene Name period circadian clock 3
Synonyms 2810049O06Rik, mPer3
MMRRC Submission 040272-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R2272 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 151088109-151129122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151103342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 530 (Y530F)
Ref Sequence ENSEMBL: ENSMUSP00000099493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103204] [ENSMUST00000136398] [ENSMUST00000169423]
AlphaFold O70361
PDB Structure Unwinding the Differences of the Mammalian PERIOD Clock Proteins from Crystal Structure to Cellular Function [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000103204
AA Change: Y530F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099493
Gene: ENSMUSG00000028957
AA Change: Y530F

DomainStartEndE-ValueType
PAS 115 187 2.86e1 SMART
PAS 258 324 1.31e-5 SMART
PAC 333 376 1.52e-1 SMART
low complexity region 414 427 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
low complexity region 799 814 N/A INTRINSIC
low complexity region 845 860 N/A INTRINSIC
Pfam:Period_C 905 1111 4.4e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136398
SMART Domains Protein: ENSMUSP00000118950
Gene: ENSMUSG00000028957

DomainStartEndE-ValueType
PAS 115 187 2.86e1 SMART
PAS 258 324 1.31e-5 SMART
PAC 333 376 3.25e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138584
Predicted Effect probably benign
Transcript: ENSMUST00000169423
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

DomainStartEndE-ValueType
CG-1 67 183 1.39e-91 SMART
low complexity region 550 583 N/A INTRINSIC
low complexity region 677 688 N/A INTRINSIC
Pfam:TIG 874 954 3.1e-11 PFAM
low complexity region 997 1030 N/A INTRINSIC
ANK 1066 1095 1.7e2 SMART
ANK 1111 1141 4.73e2 SMART
low complexity region 1301 1319 N/A INTRINSIC
IQ 1548 1564 2.38e2 SMART
IQ 1578 1600 5.42e0 SMART
Meta Mutation Damage Score 0.4049 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by Clock/Arntl heterodimers but then represses this upregulation in a feedback loop using Per/Cry heterodimers to interact with Clock/Arntl. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit a shorter circadian cycle length. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Ago1 C A 4: 126,347,443 (GRCm39) M435I probably benign Het
Apol7b G A 15: 77,307,910 (GRCm39) A195V probably damaging Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atg2b C T 12: 105,604,267 (GRCm39) V1545I probably benign Het
Atp4a C A 7: 30,414,925 (GRCm39) S238* probably null Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Brinp3 A G 1: 146,777,142 (GRCm39) R530G possibly damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnah10 A G 5: 124,808,530 (GRCm39) N195S probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Fmo1 A T 1: 162,661,424 (GRCm39) D286E probably damaging Het
Fmo4 A T 1: 162,626,616 (GRCm39) I310N possibly damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hydin A T 8: 111,035,764 (GRCm39) I152L probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Kcnq3 T A 15: 65,900,529 (GRCm39) D242V probably damaging Het
Klhl1 T C 14: 96,755,344 (GRCm39) D137G probably benign Het
Lama5 T C 2: 179,820,396 (GRCm39) D3282G possibly damaging Het
Lhx8 A G 3: 154,022,399 (GRCm39) L254S probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Matn4 A T 2: 164,239,162 (GRCm39) C232S possibly damaging Het
Mios C T 6: 8,226,865 (GRCm39) R614C possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Mycbp2 T C 14: 103,381,774 (GRCm39) H3612R probably null Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
Myo7b C T 18: 32,110,096 (GRCm39) S1122N probably benign Het
Myo9a T A 9: 59,722,584 (GRCm39) F549I probably damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Neil1 A G 9: 57,054,069 (GRCm39) S84P probably damaging Het
Nfix A G 8: 85,453,804 (GRCm39) I256T probably damaging Het
Nlrp4f A T 13: 65,342,222 (GRCm39) D474E probably benign Het
Or5ac21 T G 16: 59,123,807 (GRCm39) M98R possibly damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Pcnx1 T C 12: 82,042,088 (GRCm39) V2240A probably benign Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Pramel22 G A 4: 143,380,712 (GRCm39) T437I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Prss54 C T 8: 96,297,735 (GRCm39) W45* probably null Het
Psg29 A T 7: 16,944,621 (GRCm39) N377I probably benign Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Serpinb9c C T 13: 33,338,524 (GRCm39) G125E probably damaging Het
Skint4 A G 4: 111,977,065 (GRCm39) T152A probably benign Het
Slc26a2 A G 18: 61,331,650 (GRCm39) C594R possibly damaging Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
Ttn T A 2: 76,594,864 (GRCm39) E20394V probably damaging Het
Ugt2b36 A G 5: 87,214,114 (GRCm39) V510A possibly damaging Het
Usf1 T C 1: 171,245,628 (GRCm39) L291P possibly damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r172 A C 7: 23,359,616 (GRCm39) D167A probably damaging Het
Wnt10b T A 15: 98,672,228 (GRCm39) Q163L probably damaging Het
Other mutations in Per3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Per3 APN 4 151,098,055 (GRCm39) missense probably benign 0.28
IGL02112:Per3 APN 4 151,113,640 (GRCm39) missense probably benign 0.20
IGL02428:Per3 APN 4 151,102,674 (GRCm39) critical splice donor site probably null
IGL02812:Per3 APN 4 151,108,927 (GRCm39) missense probably damaging 0.99
IGL03094:Per3 APN 4 151,093,755 (GRCm39) missense probably damaging 1.00
R0119:Per3 UTSW 4 151,109,005 (GRCm39) intron probably benign
R0565:Per3 UTSW 4 151,118,409 (GRCm39) missense probably damaging 1.00
R0671:Per3 UTSW 4 151,113,288 (GRCm39) missense probably benign 0.27
R1186:Per3 UTSW 4 151,110,595 (GRCm39) missense probably damaging 0.99
R1736:Per3 UTSW 4 151,093,705 (GRCm39) critical splice donor site probably null
R1757:Per3 UTSW 4 151,127,249 (GRCm39) critical splice acceptor site probably null
R1900:Per3 UTSW 4 151,125,883 (GRCm39) missense probably damaging 1.00
R1929:Per3 UTSW 4 151,103,342 (GRCm39) missense probably damaging 1.00
R2044:Per3 UTSW 4 151,118,395 (GRCm39) missense probably benign 0.01
R2415:Per3 UTSW 4 151,097,147 (GRCm39) missense possibly damaging 0.91
R4771:Per3 UTSW 4 151,093,716 (GRCm39) missense probably damaging 1.00
R5199:Per3 UTSW 4 151,097,352 (GRCm39) missense probably benign 0.15
R5298:Per3 UTSW 4 151,113,666 (GRCm39) missense probably damaging 1.00
R5330:Per3 UTSW 4 151,125,759 (GRCm39) missense probably damaging 1.00
R5331:Per3 UTSW 4 151,125,759 (GRCm39) missense probably damaging 1.00
R5920:Per3 UTSW 4 151,096,907 (GRCm39) missense probably benign 0.05
R5974:Per3 UTSW 4 151,127,194 (GRCm39) missense possibly damaging 0.83
R6498:Per3 UTSW 4 151,113,662 (GRCm39) missense probably benign 0.27
R6907:Per3 UTSW 4 151,128,015 (GRCm39) critical splice donor site probably null
R6915:Per3 UTSW 4 151,128,106 (GRCm39) missense possibly damaging 0.84
R7269:Per3 UTSW 4 151,116,393 (GRCm39) nonsense probably null
R7454:Per3 UTSW 4 151,097,185 (GRCm39) missense probably benign 0.05
R7555:Per3 UTSW 4 151,102,515 (GRCm39) nonsense probably null
R7771:Per3 UTSW 4 151,125,902 (GRCm39) missense probably damaging 1.00
R7771:Per3 UTSW 4 151,110,657 (GRCm39) missense probably damaging 1.00
R8071:Per3 UTSW 4 151,113,270 (GRCm39) missense probably damaging 1.00
R8079:Per3 UTSW 4 151,127,135 (GRCm39) missense possibly damaging 0.81
R8099:Per3 UTSW 4 151,097,014 (GRCm39) missense possibly damaging 0.92
R9153:Per3 UTSW 4 151,111,796 (GRCm39) missense probably benign 0.18
R9449:Per3 UTSW 4 151,094,945 (GRCm39) missense probably benign 0.02
R9566:Per3 UTSW 4 151,113,335 (GRCm39) missense
R9585:Per3 UTSW 4 151,097,138 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- ATGGCTGACACAGAGGACAC -3'
(R):5'- AGCCTGCTACGATTTGCTG -3'

Sequencing Primer
(F):5'- TGTCCCCAGCAGCTCTAAGAG -3'
(R):5'- GAATATTTTCTCACTAGCTGCCGAAC -3'
Posted On 2014-10-16