Incidental Mutation 'IGL02271:Per2'
ID 287149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Per2
Ensembl Gene ENSMUSG00000055866
Gene Name period circadian clock 2
Synonyms mPer2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL02271
Quality Score
Status
Chromosome 1
Chromosomal Location 91343704-91387046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91373332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 152 (Y152C)
Ref Sequence ENSEMBL: ENSMUSP00000066620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069620]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069620
AA Change: Y152C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066620
Gene: ENSMUSG00000055866
AA Change: Y152C

DomainStartEndE-ValueType
PAS 179 246 3.23e1 SMART
PAS 319 385 5.75e-2 SMART
PAC 393 436 1.6e0 SMART
low complexity region 475 488 N/A INTRINSIC
low complexity region 821 834 N/A INTRINSIC
low complexity region 996 1014 N/A INTRINSIC
Pfam:Period_C 1040 1234 2.7e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185298
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 may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mutants have a partially functional circadian clock, exhibiting a short circadian period followed by loss of circadian rhythmicity in constant darkness. Mutants are also deficient in DNA damage responses and show increased sensitivity togamma radiation and tumor development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 C T 1: 158,338,520 (GRCm39) probably benign Het
Bms1 C A 6: 118,366,290 (GRCm39) V1068F probably benign Het
Cand1 A T 10: 119,047,626 (GRCm39) N621K probably damaging Het
Cd44 C T 2: 102,661,732 (GRCm39) E418K possibly damaging Het
Clip2 A T 5: 134,531,425 (GRCm39) N758K probably benign Het
Cst11 A T 2: 148,613,161 (GRCm39) Y55N probably damaging Het
Cytip A T 2: 58,023,872 (GRCm39) L316* probably null Het
Ddx52 T C 11: 83,843,057 (GRCm39) M352T probably damaging Het
Fancd2 G A 6: 113,512,720 (GRCm39) probably benign Het
Fat4 A T 3: 39,034,068 (GRCm39) E2573D probably benign Het
Fbxl13 T G 5: 21,695,454 (GRCm39) D646A probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Grid2ip A G 5: 143,374,664 (GRCm39) D928G probably benign Het
Hmgxb3 A G 18: 61,265,285 (GRCm39) L1231P probably damaging Het
Ifitm7 A G 16: 13,801,541 (GRCm39) F73L probably damaging Het
Ikbkb T A 8: 23,155,919 (GRCm39) T583S probably benign Het
Kdm6b G A 11: 69,296,893 (GRCm39) A458V possibly damaging Het
Klra2 T C 6: 131,207,180 (GRCm39) K143R probably benign Het
Kmt2d A G 15: 98,764,309 (GRCm39) S42P possibly damaging Het
Krt78 T A 15: 101,857,028 (GRCm39) M360L probably benign Het
Lamb1 A G 12: 31,350,250 (GRCm39) N677S probably damaging Het
Lrrc9 G A 12: 72,557,155 (GRCm39) V1407I probably benign Het
Myo6 A G 9: 80,168,113 (GRCm39) T426A probably benign Het
Net1 T C 13: 3,937,663 (GRCm39) Y146C probably damaging Het
Nlrp4d T A 7: 10,122,625 (GRCm39) noncoding transcript Het
Notch4 A T 17: 34,787,445 (GRCm39) N335I probably damaging Het
Or14j6 A T 17: 38,215,134 (GRCm39) E232D probably benign Het
Or5ac20 A T 16: 59,104,584 (GRCm39) I92K probably damaging Het
Or8b53 A T 9: 38,667,784 (GRCm39) T267S probably benign Het
Pax3 A T 1: 78,171,969 (GRCm39) H80Q probably damaging Het
Pclo A T 5: 14,729,508 (GRCm39) probably benign Het
Pdgfra A G 5: 75,348,567 (GRCm39) D869G probably damaging Het
Pilrb2 T C 5: 137,865,125 (GRCm39) D223G probably benign Het
Rag1 T A 2: 101,473,733 (GRCm39) I470F probably damaging Het
Rap1gap T C 4: 137,445,317 (GRCm39) S333P probably damaging Het
Rundc3b A G 5: 8,542,530 (GRCm39) Y430H probably damaging Het
Ryr1 T C 7: 28,793,472 (GRCm39) D1332G probably benign Het
Sgo1 G A 17: 53,986,567 (GRCm39) A208V possibly damaging Het
Skint5 C T 4: 113,794,778 (GRCm39) probably null Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc28a3 A T 13: 58,706,451 (GRCm39) S597T probably benign Het
Slc4a5 T A 6: 83,248,085 (GRCm39) probably benign Het
Slc52a3 A G 2: 151,847,448 (GRCm39) probably benign Het
Stac3 A G 10: 127,339,768 (GRCm39) D158G probably benign Het
Tdo2 T C 3: 81,871,224 (GRCm39) probably benign Het
Usp25 A T 16: 76,912,335 (GRCm39) E1018V probably damaging Het
Vmn1r46 T A 6: 89,953,886 (GRCm39) F245Y probably damaging Het
Other mutations in Per2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Per2 APN 1 91,376,555 (GRCm39) missense probably damaging 0.98
IGL01350:Per2 APN 1 91,358,583 (GRCm39) missense probably damaging 1.00
IGL01865:Per2 APN 1 91,349,239 (GRCm39) missense probably benign 0.10
IGL01974:Per2 APN 1 91,351,440 (GRCm39) missense probably benign 0.02
IGL02118:Per2 APN 1 91,352,031 (GRCm39) missense probably damaging 0.99
IGL02533:Per2 APN 1 91,358,724 (GRCm39) missense possibly damaging 0.92
IGL02707:Per2 APN 1 91,378,450 (GRCm39) missense possibly damaging 0.94
IGL02972:Per2 APN 1 91,351,703 (GRCm39) missense possibly damaging 0.50
IGL03118:Per2 APN 1 91,372,341 (GRCm39) nonsense probably null
IGL03125:Per2 APN 1 91,378,333 (GRCm39) missense probably benign 0.00
IGL03375:Per2 APN 1 91,351,950 (GRCm39) missense possibly damaging 0.76
IGL03388:Per2 APN 1 91,372,511 (GRCm39) splice site probably benign
Kortiku UTSW 1 91,351,551 (GRCm39) missense probably damaging 1.00
obst UTSW 1 91,373,261 (GRCm39) missense probably benign 0.00
R7092_Per2_246 UTSW 1 91,349,153 (GRCm39) missense probably damaging 1.00
rhythm UTSW 1 91,357,104 (GRCm39) critical splice donor site probably null
ANU23:Per2 UTSW 1 91,376,555 (GRCm39) missense probably damaging 0.98
R0029:Per2 UTSW 1 91,351,434 (GRCm39) missense possibly damaging 0.58
R0029:Per2 UTSW 1 91,351,434 (GRCm39) missense possibly damaging 0.58
R0542:Per2 UTSW 1 91,366,054 (GRCm39) critical splice donor site probably null
R0764:Per2 UTSW 1 91,357,142 (GRCm39) missense probably damaging 1.00
R1370:Per2 UTSW 1 91,373,279 (GRCm39) missense possibly damaging 0.94
R1655:Per2 UTSW 1 91,376,490 (GRCm39) missense probably damaging 1.00
R1688:Per2 UTSW 1 91,351,551 (GRCm39) missense probably damaging 1.00
R1997:Per2 UTSW 1 91,368,581 (GRCm39) missense probably damaging 1.00
R2891:Per2 UTSW 1 91,373,325 (GRCm39) missense probably damaging 1.00
R2893:Per2 UTSW 1 91,373,325 (GRCm39) missense probably damaging 1.00
R2894:Per2 UTSW 1 91,373,325 (GRCm39) missense probably damaging 1.00
R3109:Per2 UTSW 1 91,373,297 (GRCm39) missense probably benign 0.02
R4125:Per2 UTSW 1 91,357,172 (GRCm39) missense possibly damaging 0.71
R4997:Per2 UTSW 1 91,378,505 (GRCm39) missense probably benign 0.02
R5110:Per2 UTSW 1 91,357,237 (GRCm39) missense possibly damaging 0.57
R5478:Per2 UTSW 1 91,360,590 (GRCm39) missense probably benign 0.09
R5590:Per2 UTSW 1 91,355,578 (GRCm39) nonsense probably null
R5634:Per2 UTSW 1 91,372,429 (GRCm39) missense probably benign 0.02
R5654:Per2 UTSW 1 91,373,223 (GRCm39) splice site probably null
R5928:Per2 UTSW 1 91,372,373 (GRCm39) missense probably damaging 1.00
R6241:Per2 UTSW 1 91,349,251 (GRCm39) missense probably damaging 0.97
R6295:Per2 UTSW 1 91,377,594 (GRCm39) missense unknown
R6345:Per2 UTSW 1 91,376,444 (GRCm39) missense probably damaging 1.00
R6480:Per2 UTSW 1 91,357,104 (GRCm39) critical splice donor site probably null
R6502:Per2 UTSW 1 91,355,485 (GRCm39) missense probably benign 0.01
R6702:Per2 UTSW 1 91,355,671 (GRCm39) missense probably damaging 1.00
R6703:Per2 UTSW 1 91,355,671 (GRCm39) missense probably damaging 1.00
R6790:Per2 UTSW 1 91,373,261 (GRCm39) missense probably benign 0.00
R7043:Per2 UTSW 1 91,347,130 (GRCm39) missense probably benign
R7092:Per2 UTSW 1 91,349,153 (GRCm39) missense probably damaging 1.00
R7430:Per2 UTSW 1 91,351,705 (GRCm39) nonsense probably null
R7555:Per2 UTSW 1 91,362,857 (GRCm39) missense probably damaging 1.00
R7860:Per2 UTSW 1 91,372,481 (GRCm39) missense probably damaging 0.99
R8046:Per2 UTSW 1 91,363,425 (GRCm39) missense possibly damaging 0.56
R8142:Per2 UTSW 1 91,349,269 (GRCm39) missense possibly damaging 0.90
R8261:Per2 UTSW 1 91,361,170 (GRCm39) missense possibly damaging 0.87
R8277:Per2 UTSW 1 91,348,274 (GRCm39) missense probably benign 0.15
R8534:Per2 UTSW 1 91,351,659 (GRCm39) missense probably benign 0.09
R8685:Per2 UTSW 1 91,378,402 (GRCm39) missense possibly damaging 0.88
R8703:Per2 UTSW 1 91,351,767 (GRCm39) missense possibly damaging 0.92
R9100:Per2 UTSW 1 91,351,464 (GRCm39) missense possibly damaging 0.91
R9228:Per2 UTSW 1 91,366,081 (GRCm39) missense probably damaging 1.00
R9257:Per2 UTSW 1 91,376,445 (GRCm39) missense probably damaging 1.00
R9429:Per2 UTSW 1 91,351,489 (GRCm39) missense probably benign
X0011:Per2 UTSW 1 91,348,311 (GRCm39) missense possibly damaging 0.85
Z1176:Per2 UTSW 1 91,349,215 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16