Incidental Mutation 'P0043:Per1'
ID 7706
Institutional Source Beutler Lab
Gene Symbol Per1
Ensembl Gene ENSMUSG00000020893
Gene Name period circadian clock 1
Synonyms mPer1, m-rigui, Hftm
MMRRC Submission 038291-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # P0043 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 68986043-69000786 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 68992869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021271] [ENSMUST00000101004] [ENSMUST00000102605] [ENSMUST00000132462] [ENSMUST00000142392] [ENSMUST00000166748]
AlphaFold O35973
Predicted Effect probably benign
Transcript: ENSMUST00000021271
SMART Domains Protein: ENSMUSP00000021271
Gene: ENSMUSG00000020893

DomainStartEndE-ValueType
low complexity region 48 115 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
PAS 208 275 4.19e0 SMART
PAS 348 414 1.12e-4 SMART
PAC 422 465 1.6e0 SMART
low complexity region 473 481 N/A INTRINSIC
low complexity region 513 543 N/A INTRINSIC
low complexity region 571 578 N/A INTRINSIC
low complexity region 652 666 N/A INTRINSIC
low complexity region 747 772 N/A INTRINSIC
low complexity region 794 808 N/A INTRINSIC
low complexity region 817 844 N/A INTRINSIC
low complexity region 852 877 N/A INTRINSIC
low complexity region 890 901 N/A INTRINSIC
low complexity region 945 972 N/A INTRINSIC
low complexity region 996 1013 N/A INTRINSIC
Pfam:Period_C 1031 1222 1.5e-78 PFAM
low complexity region 1270 1280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101004
SMART Domains Protein: ENSMUSP00000098566
Gene: ENSMUSG00000020893

DomainStartEndE-ValueType
low complexity region 48 115 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
PAS 208 275 4.19e0 SMART
PAS 348 414 1.12e-4 SMART
PAC 422 465 1.6e0 SMART
low complexity region 473 481 N/A INTRINSIC
low complexity region 513 543 N/A INTRINSIC
low complexity region 571 578 N/A INTRINSIC
low complexity region 652 666 N/A INTRINSIC
low complexity region 747 772 N/A INTRINSIC
low complexity region 794 808 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102605
SMART Domains Protein: ENSMUSP00000099665
Gene: ENSMUSG00000020893

DomainStartEndE-ValueType
low complexity region 48 115 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
Blast:PAS 203 255 1e-23 BLAST
PAS 328 394 1.12e-4 SMART
PAC 402 445 1.6e0 SMART
low complexity region 453 461 N/A INTRINSIC
low complexity region 493 523 N/A INTRINSIC
low complexity region 551 558 N/A INTRINSIC
low complexity region 632 646 N/A INTRINSIC
low complexity region 727 752 N/A INTRINSIC
low complexity region 774 788 N/A INTRINSIC
low complexity region 797 824 N/A INTRINSIC
low complexity region 832 857 N/A INTRINSIC
low complexity region 870 881 N/A INTRINSIC
low complexity region 925 952 N/A INTRINSIC
low complexity region 976 993 N/A INTRINSIC
Pfam:Period_C 1011 1210 7.5e-75 PFAM
low complexity region 1250 1260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132462
SMART Domains Protein: ENSMUSP00000122164
Gene: ENSMUSG00000020893

DomainStartEndE-ValueType
low complexity region 48 81 N/A INTRINSIC
low complexity region 86 104 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142392
SMART Domains Protein: ENSMUSP00000121713
Gene: ENSMUSG00000020893

DomainStartEndE-ValueType
low complexity region 48 115 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
PAS 208 275 4.19e0 SMART
PAS 348 414 1.12e-4 SMART
PAC 422 465 1.6e0 SMART
low complexity region 473 481 N/A INTRINSIC
low complexity region 513 543 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166748
SMART Domains Protein: ENSMUSP00000132635
Gene: ENSMUSG00000020893

DomainStartEndE-ValueType
low complexity region 48 115 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
PAS 208 275 4.19e0 SMART
PAS 348 414 1.12e-4 SMART
PAC 422 465 1.6e0 SMART
low complexity region 473 481 N/A INTRINSIC
low complexity region 513 543 N/A INTRINSIC
low complexity region 571 578 N/A INTRINSIC
low complexity region 652 666 N/A INTRINSIC
low complexity region 747 772 N/A INTRINSIC
low complexity region 794 808 N/A INTRINSIC
low complexity region 817 844 N/A INTRINSIC
low complexity region 852 877 N/A INTRINSIC
low complexity region 890 901 N/A INTRINSIC
low complexity region 945 972 N/A INTRINSIC
low complexity region 996 1013 N/A INTRINSIC
Pfam:Period_C 1031 1230 5.2e-75 PFAM
low complexity region 1270 1280 N/A INTRINSIC
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 74.1%
  • 10x: 50.1%
  • 20x: 26.7%
Validation Efficiency 74% (145/195)
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. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired. [provided by MGI curators]
Allele List at MGI

All alleles(8) : Targeted, knock-out(3) Gene trapped(5)

Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chn1 A T 2: 73,454,509 (GRCm39) V247E probably damaging Het
Col28a1 T A 6: 8,168,152 (GRCm39) probably benign Het
Cxcl5 A G 5: 90,907,826 (GRCm39) I85M probably damaging Het
Fnip1 A G 11: 54,394,051 (GRCm39) E829G probably benign Het
Kctd18 G A 1: 58,006,722 (GRCm39) R43C probably damaging Het
Kidins220 T A 12: 25,058,155 (GRCm39) F629I probably damaging Het
Lamb1 T C 12: 31,328,620 (GRCm39) S195P probably damaging Het
Lrrc74b A T 16: 17,376,023 (GRCm39) probably benign Het
Mrpl30 A G 1: 37,937,259 (GRCm39) T133A probably benign Het
Mrps27 A G 13: 99,548,754 (GRCm39) T297A probably benign Het
Ptprq C A 10: 107,416,086 (GRCm39) M1737I probably benign Het
Ropn1l A C 15: 31,457,447 (GRCm39) probably benign Het
Sfrp4 A G 13: 19,807,765 (GRCm39) I55V probably benign Het
Spata31 G A 13: 65,068,820 (GRCm39) probably null Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Ttn A G 2: 76,628,358 (GRCm39) S12855P probably damaging Het
Zscan10 C T 17: 23,828,594 (GRCm39) R302* probably null Het
Other mutations in Per1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Per1 APN 11 68,995,025 (GRCm39) missense probably damaging 1.00
IGL01907:Per1 APN 11 68,996,425 (GRCm39) missense probably benign 0.00
IGL02078:Per1 APN 11 68,995,125 (GRCm39) missense probably damaging 1.00
IGL02296:Per1 APN 11 68,993,001 (GRCm39) missense probably damaging 1.00
IGL02677:Per1 APN 11 68,997,486 (GRCm39) missense probably benign 0.07
0152:Per1 UTSW 11 68,994,848 (GRCm39) splice site probably benign
IGL03048:Per1 UTSW 11 68,995,552 (GRCm39) missense probably damaging 0.99
R0089:Per1 UTSW 11 68,994,869 (GRCm39) missense probably benign 0.27
R0116:Per1 UTSW 11 68,992,706 (GRCm39) splice site probably benign
R0395:Per1 UTSW 11 68,993,103 (GRCm39) missense probably damaging 1.00
R0531:Per1 UTSW 11 68,995,016 (GRCm39) missense probably damaging 1.00
R0681:Per1 UTSW 11 68,992,027 (GRCm39) missense probably damaging 1.00
R0788:Per1 UTSW 11 68,992,185 (GRCm39) splice site probably benign
R1233:Per1 UTSW 11 68,993,037 (GRCm39) missense probably damaging 1.00
R1554:Per1 UTSW 11 68,994,453 (GRCm39) missense probably damaging 1.00
R3793:Per1 UTSW 11 69,000,127 (GRCm39) missense probably benign 0.30
R4706:Per1 UTSW 11 68,991,444 (GRCm39) start gained probably benign
R4716:Per1 UTSW 11 68,992,057 (GRCm39) missense probably damaging 1.00
R4965:Per1 UTSW 11 68,995,227 (GRCm39) missense probably benign 0.06
R5111:Per1 UTSW 11 68,991,612 (GRCm39) missense probably damaging 1.00
R5270:Per1 UTSW 11 68,994,424 (GRCm39) missense probably benign
R5583:Per1 UTSW 11 68,994,271 (GRCm39) missense probably damaging 1.00
R5588:Per1 UTSW 11 68,998,453 (GRCm39) missense probably damaging 1.00
R6184:Per1 UTSW 11 68,993,730 (GRCm39) missense probably damaging 1.00
R6430:Per1 UTSW 11 68,995,122 (GRCm39) missense probably damaging 1.00
R6819:Per1 UTSW 11 68,992,284 (GRCm39) missense probably damaging 1.00
R6911:Per1 UTSW 11 68,994,083 (GRCm39) missense probably damaging 1.00
R7158:Per1 UTSW 11 68,994,930 (GRCm39) unclassified probably benign
R7340:Per1 UTSW 11 68,994,008 (GRCm39) missense probably damaging 1.00
R7438:Per1 UTSW 11 68,995,561 (GRCm39) missense possibly damaging 0.79
R7513:Per1 UTSW 11 68,996,397 (GRCm39) missense probably benign 0.00
R7555:Per1 UTSW 11 68,997,339 (GRCm39) missense probably damaging 1.00
R7921:Per1 UTSW 11 68,991,605 (GRCm39) missense probably damaging 1.00
R8059:Per1 UTSW 11 68,997,309 (GRCm39) missense probably damaging 1.00
R8345:Per1 UTSW 11 68,998,382 (GRCm39) missense possibly damaging 0.63
R8408:Per1 UTSW 11 68,999,953 (GRCm39) missense possibly damaging 0.86
R9208:Per1 UTSW 11 68,995,636 (GRCm39) missense possibly damaging 0.50
R9424:Per1 UTSW 11 68,998,855 (GRCm39) missense probably damaging 0.98
R9555:Per1 UTSW 11 68,995,574 (GRCm39) missense probably benign 0.00
R9576:Per1 UTSW 11 68,998,855 (GRCm39) missense probably damaging 0.98
R9616:Per1 UTSW 11 68,993,554 (GRCm39) missense probably damaging 1.00
R9712:Per1 UTSW 11 68,991,475 (GRCm39) missense probably benign 0.38
X0023:Per1 UTSW 11 68,993,950 (GRCm39) missense probably damaging 1.00
Posted On 2012-10-29