Incidental Mutation 'IGL02677:Per1'
ID 303179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Per1
Ensembl Gene ENSMUSG00000020893
Gene Name period circadian clock 1
Synonyms mPer1, m-rigui, Hftm
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # IGL02677
Quality Score
Status
Chromosome 11
Chromosomal Location 68986043-69000786 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68997486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 887 (V887A)
Ref Sequence ENSEMBL: ENSMUSP00000132635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021271] [ENSMUST00000101004] [ENSMUST00000102605] [ENSMUST00000142392] [ENSMUST00000166748]
AlphaFold O35973
Predicted Effect probably benign
Transcript: ENSMUST00000021271
AA Change: V887A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021271
Gene: ENSMUSG00000020893
AA Change: V887A

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
AA Change: V867A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099665
Gene: ENSMUSG00000020893
AA Change: V867A

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: 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
AA Change: V887A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000132635
Gene: ENSMUSG00000020893
AA Change: V887A

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
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. 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign 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
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
P0043:Per1 UTSW 11 68,992,869 (GRCm39) splice site probably benign
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 2015-04-16