Incidental Mutation 'R8408:Per1'
ID 652537
Institutional Source Beutler Lab
Gene Symbol Per1
Ensembl Gene ENSMUSG00000020893
Gene Name period circadian clock 1
Synonyms mPer1, m-rigui, Hftm
MMRRC Submission 067815-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R8408 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 68986043-69000786 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68999953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1215 (D1215V)
Ref Sequence ENSEMBL: ENSMUSP00000021271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021271] [ENSMUST00000101004] [ENSMUST00000102605] [ENSMUST00000142392] [ENSMUST00000166748]
AlphaFold O35973
PDB Structure Unwinding the Differences of the Mammalian PERIOD Clock Proteins from Crystal Structure to Cellular Function [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021271
AA Change: D1215V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021271
Gene: ENSMUSG00000020893
AA Change: D1215V

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 possibly damaging
Transcript: ENSMUST00000102605
AA Change: D1195V

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099665
Gene: ENSMUSG00000020893
AA Change: D1195V

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 possibly damaging
Transcript: ENSMUST00000166748
AA Change: D1215V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132635
Gene: ENSMUSG00000020893
AA Change: D1215V

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,236,356 (GRCm39) T1236A possibly damaging Het
9930111J21Rik1 A T 11: 48,838,829 (GRCm39) M586K probably damaging Het
Adamts4 T C 1: 171,080,314 (GRCm39) V289A possibly damaging Het
Ankrd44 A T 1: 54,762,257 (GRCm39) D522E probably benign Het
Asb14 A G 14: 26,637,067 (GRCm39) Y603C probably damaging Het
Bcl7b A G 5: 135,197,308 (GRCm39) probably benign Het
Cd5 T C 19: 10,700,469 (GRCm39) K345R possibly damaging Het
Celsr3 T C 9: 108,708,988 (GRCm39) F1278S probably damaging Het
Cndp1 T A 18: 84,650,049 (GRCm39) T215S possibly damaging Het
Crygb T G 1: 65,119,709 (GRCm39) R90S probably damaging Het
Dlg4 T A 11: 69,933,078 (GRCm39) F555I possibly damaging Het
Dnah3 C T 7: 119,551,728 (GRCm39) V2864M probably damaging Het
Dnttip2 A G 3: 122,070,351 (GRCm39) E522G probably damaging Het
Ercc4 G C 16: 12,948,001 (GRCm39) R406P probably benign Het
Foxp1 G A 6: 98,922,543 (GRCm39) P430S unknown Het
Galnt1 A G 18: 24,400,628 (GRCm39) T245A probably benign Het
Gnl2 T A 4: 124,938,082 (GRCm39) N287K probably damaging Het
Jcad C A 18: 4,649,402 (GRCm39) A91E possibly damaging Het
Kat6a G A 8: 23,352,275 (GRCm39) V20I probably damaging Het
Kcnb2 A G 1: 15,781,777 (GRCm39) N883S probably damaging Het
Lrch3 A T 16: 32,775,750 (GRCm39) R205S probably damaging Het
Lrr1 A G 12: 69,215,825 (GRCm39) T66A probably benign Het
Lrrc37a T A 11: 103,351,635 (GRCm39) I2569F unknown Het
Maip1 A T 1: 57,449,102 (GRCm39) Q161L probably damaging Het
Neb T C 2: 52,047,923 (GRCm39) E6699G probably benign Het
Nup205 A G 6: 35,202,182 (GRCm39) R1305G probably damaging Het
Or1e19 T A 11: 73,316,794 (GRCm39) N5I probably damaging Het
Or5ac21 A T 16: 59,124,418 (GRCm39) R301* probably null Het
Pate1 G A 9: 35,596,418 (GRCm39) R116W probably damaging Het
Pcsk5 T G 19: 17,410,809 (GRCm39) E1861A probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Phactr2 A G 10: 13,129,570 (GRCm39) S233P probably damaging Het
Pramel28 A G 4: 143,692,212 (GRCm39) V263A probably benign Het
Rgsl1 T A 1: 153,701,435 (GRCm39) N340Y possibly damaging Het
Rhot1 C T 11: 80,114,786 (GRCm39) P65S probably damaging Het
Scrn2 T C 11: 96,921,869 (GRCm39) L113P probably damaging Het
Sema6a T C 18: 47,381,958 (GRCm39) K863R probably benign Het
Slc15a1 A G 14: 121,715,528 (GRCm39) V337A possibly damaging Het
Slc25a1 T C 16: 17,743,720 (GRCm39) D298G probably benign Het
Slc25a22 G A 7: 141,011,737 (GRCm39) P168S probably benign Het
Slc29a4 A T 5: 142,691,109 (GRCm39) probably null Het
Slc35d1 T C 4: 103,047,007 (GRCm39) T264A Het
Spice1 T C 16: 44,205,060 (GRCm39) S789P probably damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Tectb T C 19: 55,178,099 (GRCm39) probably null Het
Ttn T A 2: 76,544,810 (GRCm39) Y32764F probably damaging Het
Utrn T G 10: 12,545,887 (GRCm39) S1684R possibly damaging Het
Zic1 G T 9: 91,246,847 (GRCm39) A75E probably damaging Het
Zswim4 A G 8: 84,939,014 (GRCm39) V956A possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TAGACTGTAGGTACATGTGTGGAC -3'
(R):5'- TTCTTCTGCAGGTAAAGCTGG -3'

Sequencing Primer
(F):5'- ACTGGTTTCTTGGAAGTATATTTTGC -3'
(R):5'- TGGATGAGCCCCCACCTTG -3'
Posted On 2020-10-20