Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02118:Per2'

280481

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: 0.194) question?

Stock #

IGL02118

Quality Score

Status

Chromosome

Chromosomal Location

91343704-91387046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91352031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 825 (T825I)

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: T825I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066620
Gene: ENSMUSG00000055866
AA Change: T825I

Domain	Start	End	E-Value	Type
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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,758,865 (GRCm39)	Y359H	possibly damaging	Het
Actn2	A	G	13: 12,291,433 (GRCm39)		probably benign	Het
Actr8	T	C	14: 29,704,728 (GRCm39)		probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Aldob	T	A	4: 49,538,790 (GRCm39)	K243*	probably null	Het
Arfgap1	T	C	2: 180,622,237 (GRCm39)	F274S	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cask	T	C	X: 13,425,634 (GRCm39)	I471V	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,942 (GRCm39)	G150S	probably benign	Het
Cpne1	T	G	2: 155,919,563 (GRCm39)	D278A	possibly damaging	Het
Gcn1	A	G	5: 115,748,938 (GRCm39)	E1856G	probably damaging	Het
Gm8362	A	T	14: 18,149,595 (GRCm39)	V159E	probably damaging	Het
Golga5	A	G	12: 102,462,011 (GRCm39)	I700V	possibly damaging	Het
Ifi206	T	C	1: 173,309,334 (GRCm39)	T221A	probably benign	Het
Ighv2-6-8	T	C	12: 113,760,037 (GRCm39)	K24R	possibly damaging	Het
Morc1	T	C	16: 48,407,467 (GRCm39)	L661P	probably benign	Het
Plscr1l1	A	T	9: 92,233,011 (GRCm39)	K45*	probably null	Het
Pramel20	A	T	4: 143,297,726 (GRCm39)	T49S	probably benign	Het
Prkar2b	A	G	12: 32,025,963 (GRCm39)	V19A	probably damaging	Het
Psmb8	T	A	17: 34,420,198 (GRCm39)	D263E	probably damaging	Het
Pum2	T	C	12: 8,779,117 (GRCm39)	I563T	probably benign	Het
Retreg1	T	G	15: 25,966,709 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,524,486 (GRCm39)	T559A	probably benign	Het
Rnf31	T	G	14: 55,836,569 (GRCm39)	I801S	probably damaging	Het
Rom1	G	T	19: 8,906,386 (GRCm39)	T51N	possibly damaging	Het
Sema6b	G	T	17: 56,439,821 (GRCm39)	P7T	probably benign	Het
Stpg1	A	G	4: 135,235,375 (GRCm39)		probably benign	Het
Sugct	A	T	13: 17,627,105 (GRCm39)	Y249*	probably null	Het
Tbc1d21	C	T	9: 58,267,746 (GRCm39)	V317M	probably benign	Het
Tcea2	A	G	2: 181,327,628 (GRCm39)	I125V	probably benign	Het
Ttc39b	T	A	4: 83,216,186 (GRCm39)	D19V	probably damaging	Het
Tti2	T	A	8: 31,645,537 (GRCm39)		probably null	Het
Usp32	A	T	11: 84,923,003 (GRCm39)	Y142*	probably null	Het
Vill	A	G	9: 118,889,466 (GRCm39)	Y134C	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Zfp398	A	G	6: 47,835,879 (GRCm39)	D14G	probably damaging	Het
Zfp598	T	C	17: 24,896,591 (GRCm39)	Y223H	probably damaging	Het
Znhit6	G	T	3: 145,283,859 (GRCm39)	C43F	probably damaging	Het

Other mutations in Per2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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