Incidental Mutation 'IGL03094:Per3'
ID418503
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Per3
Ensembl Gene ENSMUSG00000028957
Gene Nameperiod circadian clock 3
SynonymsmPer3, 2810049O06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL03094
Quality Score
Status
Chromosome4
Chromosomal Location151003652-151044665 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 151009298 bp
ZygosityHeterozygous
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]
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: 110,184,112 N1375S probably benign Het
Adamts15 A T 9: 30,904,472 probably benign Het
Ahnak G A 19: 9,003,547 V732M possibly damaging Het
Akr1c19 G A 13: 4,236,185 V61I probably benign Het
BC025920 C A 10: 81,609,072 R10S probably benign Het
Cdh11 T C 8: 102,658,403 I347V probably benign Het
Cyp11b2 A G 15: 74,853,037 probably null Het
Cyp4a31 T A 4: 115,578,108 probably benign Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Glra3 C A 8: 56,125,172 H421Q probably benign Het
Gtf2f1 T C 17: 57,007,049 N145S probably damaging Het
Hsd17b12 A T 2: 94,033,994 V256E probably damaging Het
Ighv1-34 C T 12: 114,851,338 G68E probably damaging Het
Ipo5 T C 14: 120,943,677 probably benign Het
Knop1 T A 7: 118,853,151 D63V possibly damaging Het
Krt39 T C 11: 99,520,802 probably benign Het
Ldhb T C 6: 142,505,527 K5R probably benign Het
Loxhd1 A T 18: 77,431,113 I1872F possibly damaging Het
Lrfn5 A G 12: 61,839,746 N107D probably benign Het
Mks1 A G 11: 87,855,465 probably benign Het
Nup93 C T 8: 94,296,502 T236I probably benign Het
Olfr1357 A G 10: 78,612,119 I174T possibly damaging Het
Olig3 T C 10: 19,357,130 S168P probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Plbd2 T C 5: 120,486,780 N441S probably damaging Het
Plec A G 15: 76,191,319 S398P probably damaging Het
Ppm1m T G 9: 106,196,411 K314T probably damaging Het
Prmt2 T A 10: 76,210,390 probably benign Het
Rbm19 T C 5: 120,122,958 S216P probably damaging Het
Sart1 A G 19: 5,384,081 probably benign Het
Tmem225 A T 9: 40,148,386 I21L possibly damaging Het
Tnnt2 T C 1: 135,849,462 probably null Het
Trappc10 A T 10: 78,228,920 probably benign Het
Trip13 A G 13: 73,932,956 L97P probably benign Het
Zmat2 T G 18: 36,796,066 V89G probably damaging Het
Other mutations in Per3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Per3 APN 4 151013598 missense probably benign 0.28
IGL02112:Per3 APN 4 151029183 missense probably benign 0.20
IGL02428:Per3 APN 4 151018217 critical splice donor site probably null
IGL02812:Per3 APN 4 151024470 missense probably damaging 0.99
R0119:Per3 UTSW 4 151024548 intron probably benign
R0565:Per3 UTSW 4 151033952 missense probably damaging 1.00
R0671:Per3 UTSW 4 151028831 missense probably benign 0.27
R1186:Per3 UTSW 4 151026138 missense probably damaging 0.99
R1736:Per3 UTSW 4 151009248 critical splice donor site probably null
R1757:Per3 UTSW 4 151042792 critical splice acceptor site probably null
R1900:Per3 UTSW 4 151041426 missense probably damaging 1.00
R1929:Per3 UTSW 4 151018885 missense probably damaging 1.00
R2044:Per3 UTSW 4 151033938 missense probably benign 0.01
R2272:Per3 UTSW 4 151018885 missense probably damaging 1.00
R2415:Per3 UTSW 4 151012690 missense possibly damaging 0.91
R4771:Per3 UTSW 4 151009259 missense probably damaging 1.00
R5199:Per3 UTSW 4 151012895 missense probably benign 0.15
R5298:Per3 UTSW 4 151029209 missense probably damaging 1.00
R5330:Per3 UTSW 4 151041302 missense probably damaging 1.00
R5331:Per3 UTSW 4 151041302 missense probably damaging 1.00
R5920:Per3 UTSW 4 151012450 missense probably benign 0.05
R5974:Per3 UTSW 4 151042737 missense possibly damaging 0.83
R6498:Per3 UTSW 4 151029205 missense probably benign 0.27
R6907:Per3 UTSW 4 151043558 critical splice donor site probably null
R6915:Per3 UTSW 4 151043649 missense possibly damaging 0.84
R7269:Per3 UTSW 4 151031936 nonsense probably null
R7454:Per3 UTSW 4 151012728 missense probably benign 0.05
R7555:Per3 UTSW 4 151018058 nonsense probably null
Posted On2016-08-02