Incidental Mutation 'R2415:Per3'
ID 248962
Institutional Source Beutler Lab
Gene Symbol Per3
Ensembl Gene ENSMUSG00000028957
Gene Name period circadian clock 3
Synonyms 2810049O06Rik, mPer3
MMRRC Submission 040379-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R2415 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 151088109-151129122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 151097147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 793 (F793V)
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 possibly damaging
Transcript: ENSMUST00000103204
AA Change: F793V

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099493
Gene: ENSMUSG00000028957
AA Change: F793V

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 0.1999 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (37/37)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano6 A T 15: 95,860,161 (GRCm39) N761I probably damaging Het
Atad5 T C 11: 79,985,077 (GRCm39) S55P probably damaging Het
Cul9 T A 17: 46,854,364 (GRCm39) T113S probably benign Het
Ddx56 G A 11: 6,211,727 (GRCm39) probably benign Het
Dnttip2 T C 3: 122,070,186 (GRCm39) V467A probably damaging Het
Efhb A T 17: 53,770,124 (GRCm39) F62I probably benign Het
Efl1 T A 7: 82,347,175 (GRCm39) M567K probably damaging Het
Fbxw21 G T 9: 108,985,469 (GRCm39) A103E possibly damaging Het
Flnb T A 14: 7,929,932 (GRCm38) S2021T probably benign Het
Gabpa T C 16: 84,641,256 (GRCm39) probably null Het
Grid1 A T 14: 35,172,326 (GRCm39) I611F possibly damaging Het
Hdac1 A C 4: 129,416,754 (GRCm39) probably null Het
Kcnk5 T C 14: 20,191,880 (GRCm39) E427G possibly damaging Het
Kcnu1 A T 8: 26,400,906 (GRCm39) T685S probably benign Het
Khdc1b A G 1: 21,454,534 (GRCm39) D79G probably benign Het
Ky G T 9: 102,419,090 (GRCm39) G366W probably damaging Het
Limch1 T C 5: 67,131,977 (GRCm39) S147P probably damaging Het
Mroh1 A G 15: 76,305,411 (GRCm39) K405E probably damaging Het
Myo15b T G 11: 115,770,390 (GRCm39) F67V probably benign Het
Nlrp4c A G 7: 6,069,047 (GRCm39) D316G probably damaging Het
Nudt12 A G 17: 59,313,603 (GRCm39) V325A probably damaging Het
Pdia4 G T 6: 47,783,490 (GRCm39) D184E probably benign Het
Pla1a T A 16: 38,228,112 (GRCm39) Y255F possibly damaging Het
Rxfp1 A G 3: 79,570,626 (GRCm39) S269P probably benign Het
S100pbp A T 4: 129,075,614 (GRCm39) V118D possibly damaging Het
Sec24b A T 3: 129,789,729 (GRCm39) I764N probably benign Het
Sh3bp1 C T 15: 78,785,361 (GRCm39) probably benign Het
Surf6 C T 2: 26,782,274 (GRCm39) R351H probably damaging Het
Tspan15 A G 10: 62,037,570 (GRCm39) I115T probably benign Het
Vmn2r73 T C 7: 85,521,431 (GRCm39) Y179C probably damaging Het
Zfp750 T C 11: 121,403,305 (GRCm39) D481G probably benign 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
R2272:Per3 UTSW 4 151,103,342 (GRCm39) missense probably damaging 1.00
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'- TGCCAGTTCAGAAGACCCTG -3'
(R):5'- AAGAAGTTGCCAGCACCTG -3'

Sequencing Primer
(F):5'- TTCAGAAGACCCTGCGGCC -3'
(R):5'- AGTTGCCAGCACCTGTGGAC -3'
Posted On 2014-11-12