Incidental Mutation 'IGL03094:Per3'
ID 418503
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Per3
Ensembl Gene ENSMUSG00000028957
Gene Name period circadian clock 3
Synonyms 2810049O06Rik, mPer3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # IGL03094
Quality Score
Status
Chromosome 4
Chromosomal Location 151088109-151129122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 151093755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 1020 (I1020R)
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: I1020R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099493
Gene: ENSMUSG00000028957
AA Change: I1020R

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
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,074,938 (GRCm39) N1375S probably benign Het
Adamts15 A T 9: 30,815,768 (GRCm39) probably benign Het
Ahnak G A 19: 8,980,911 (GRCm39) V732M possibly damaging Het
Akr1c19 G A 13: 4,286,184 (GRCm39) V61I probably benign Het
BC025920 C A 10: 81,444,906 (GRCm39) R10S probably benign Het
Cdh11 T C 8: 103,385,035 (GRCm39) I347V probably benign Het
Cyp11b2 A G 15: 74,724,886 (GRCm39) probably null Het
Cyp4a31 T A 4: 115,435,305 (GRCm39) probably benign Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Glra3 C A 8: 56,578,207 (GRCm39) H421Q probably benign Het
Gtf2f1 T C 17: 57,314,049 (GRCm39) N145S probably damaging Het
Hsd17b12 A T 2: 93,864,339 (GRCm39) V256E probably damaging Het
Ighv1-34 C T 12: 114,814,958 (GRCm39) G68E probably damaging Het
Ipo5 T C 14: 121,181,089 (GRCm39) probably benign Het
Knop1 T A 7: 118,452,374 (GRCm39) D63V possibly damaging Het
Krt39 T C 11: 99,411,628 (GRCm39) probably benign Het
Ldhb T C 6: 142,451,253 (GRCm39) K5R probably benign Het
Loxhd1 A T 18: 77,518,809 (GRCm39) I1872F possibly damaging Het
Lrfn5 A G 12: 61,886,532 (GRCm39) N107D probably benign Het
Mks1 A G 11: 87,746,291 (GRCm39) probably benign Het
Nup93 C T 8: 95,023,130 (GRCm39) T236I probably benign Het
Olig3 T C 10: 19,232,878 (GRCm39) S168P probably benign Het
Or1i2 A G 10: 78,447,953 (GRCm39) I174T possibly damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Plbd2 T C 5: 120,624,845 (GRCm39) N441S probably damaging Het
Plec A G 15: 76,075,519 (GRCm39) S398P probably damaging Het
Ppm1m T G 9: 106,073,610 (GRCm39) K314T probably damaging Het
Prmt2 T A 10: 76,046,224 (GRCm39) probably benign Het
Rbm19 T C 5: 120,261,023 (GRCm39) S216P probably damaging Het
Sart1 A G 19: 5,434,109 (GRCm39) probably benign Het
Tmem225 A T 9: 40,059,682 (GRCm39) I21L possibly damaging Het
Tnnt2 T C 1: 135,777,200 (GRCm39) probably null Het
Trappc10 A T 10: 78,064,754 (GRCm39) probably benign Het
Trip13 A G 13: 74,081,075 (GRCm39) L97P probably benign Het
Zmat2 T G 18: 36,929,119 (GRCm39) V89G 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
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
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
Posted On 2016-08-02