Incidental Mutation 'R6790:Per2'
ID 532532
Institutional Source Beutler Lab
Gene Symbol Per2
Ensembl Gene ENSMUSG00000055866
Gene Name period circadian clock 2
Synonyms mPer2
MMRRC Submission 044903-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R6790 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 91343704-91387046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91373261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 176 (V176I)
Ref Sequence ENSEMBL: ENSMUSP00000066620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069620]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069620
AA Change: V176I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000066620
Gene: ENSMUSG00000055866
AA Change: V176I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (32/32)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T A 4: 155,987,448 (GRCm39) S457T probably damaging Het
Adgrf3 A G 5: 30,401,385 (GRCm39) V881A probably benign Het
Ankrd65 T G 4: 155,877,260 (GRCm39) probably null Het
Ascc3 A G 10: 50,521,808 (GRCm39) E441G probably damaging Het
Atf5 A T 7: 44,462,679 (GRCm39) probably null Het
Cfap97 G T 8: 46,623,113 (GRCm39) V168L possibly damaging Het
Crh T G 3: 19,748,459 (GRCm39) E61A probably damaging Het
Cx3cr1 C T 9: 119,880,833 (GRCm39) V190M probably damaging Het
Cyp3a59 A C 5: 146,033,143 (GRCm39) M172L probably benign Het
Dnm1 T C 2: 32,223,079 (GRCm39) K445R probably damaging Het
Eng C A 2: 32,559,457 (GRCm39) T82N probably damaging Het
Fkbp15 T C 4: 62,222,996 (GRCm39) T968A probably benign Het
Fsip2 A G 2: 82,821,283 (GRCm39) N5672S possibly damaging Het
Gm21149 A C 5: 15,677,103 (GRCm39) D250E unknown Het
Gon4l A G 3: 88,766,305 (GRCm39) E448G probably damaging Het
Hrnr T C 3: 93,236,382 (GRCm39) S2207P unknown Het
Itga4 C A 2: 79,155,958 (GRCm39) H975N probably benign Het
Kdm4c A G 4: 74,309,698 (GRCm39) K954E probably damaging Het
Lrrc20 G T 10: 61,362,898 (GRCm39) V48F probably damaging Het
Mga A G 2: 119,754,235 (GRCm39) I915V probably damaging Het
Npc1l1 C T 11: 6,164,260 (GRCm39) probably null Het
Nup50l T C 6: 96,142,304 (GRCm39) T247A probably benign Het
Or3a1b T A 11: 74,012,427 (GRCm39) L104H probably damaging Het
Pate13 G T 9: 35,820,127 (GRCm39) probably benign Het
Pira2 A C 7: 3,845,442 (GRCm39) V314G probably damaging Het
Potefam3e A T 8: 19,779,801 (GRCm39) I14F probably benign Het
Rims1 T C 1: 22,507,278 (GRCm39) D624G probably damaging Het
Secisbp2 A G 13: 51,824,939 (GRCm39) T396A probably benign Het
Slc28a3 T C 13: 58,730,464 (GRCm39) D84G probably benign Het
Slc8a3 T C 12: 81,361,206 (GRCm39) T538A probably benign Het
Slk T A 19: 47,624,007 (GRCm39) C991S probably damaging Het
Stmn1 T C 4: 134,198,125 (GRCm39) L54S probably damaging Het
Tuft1 C G 3: 94,535,537 (GRCm39) E128D possibly damaging Het
Ugt8a T C 3: 125,665,340 (GRCm39) T386A possibly damaging Het
Zdhhc20 A G 14: 58,127,600 (GRCm39) V13A probably benign 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
IGL02271:Per2 APN 1 91,373,332 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTGGGAGCTATGAGTCAGAGTC -3'
(R):5'- ACTGTGCTCCCCACTCAAAG -3'

Sequencing Primer
(F):5'- TCGGCCAGAGATGAAGACTTCAC -3'
(R):5'- TTGTTCACTTGAGAAAAACGGACCC -3'
Posted On 2018-08-29