Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03375:Per2'

420466

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: 0.191) question?

Stock #

IGL03375

Quality Score

Status

Chromosome

Chromosomal Location

91343704-91387046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91351950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 852 (I852K)

Ref Sequence

ENSEMBL: ENSMUSP00000066620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069620]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069620
AA Change: I852K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066620
Gene: ENSMUSG00000055866
AA Change: I852K

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	A	G	16: 38,423,190 (GRCm39)	S959P	probably damaging	Het
Arrb2	G	A	11: 70,327,005 (GRCm39)	G24D	probably damaging	Het
Catsper4	A	G	4: 133,945,519 (GRCm39)	I180T	probably damaging	Het
Chst15	G	A	7: 131,872,186 (GRCm39)	Q32*	probably null	Het
Cntnap5c	A	T	17: 58,469,200 (GRCm39)	Y594F	possibly damaging	Het
Cse1l	T	A	2: 166,784,977 (GRCm39)		probably benign	Het
Dab1	A	T	4: 104,538,798 (GRCm39)	I201F	possibly damaging	Het
Eif2ak4	T	C	2: 118,252,799 (GRCm39)	V457A	probably benign	Het
Fkbp1b	T	C	12: 4,888,220 (GRCm39)		probably benign	Het
Fryl	C	A	5: 73,245,792 (GRCm39)	V1122F	possibly damaging	Het
Gas2l2	A	G	11: 83,317,036 (GRCm39)		probably benign	Het
Gstt2	A	T	10: 75,668,655 (GRCm39)		probably null	Het
H4c14	T	C	3: 96,170,458 (GRCm39)	T55A	possibly damaging	Het
Hcst	T	G	7: 30,118,036 (GRCm39)		probably benign	Het
Hectd4	A	G	5: 121,466,445 (GRCm39)	E2420G	possibly damaging	Het
Ifi206	A	T	1: 173,308,344 (GRCm39)	S551T	probably benign	Het
Itgb3bp	A	G	4: 99,657,724 (GRCm39)		probably benign	Het
Krtap6-2	A	G	16: 89,216,644 (GRCm39)	Y108H	unknown	Het
Krtap6-5	T	G	16: 88,844,740 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,415,699 (GRCm39)	T2882A	possibly damaging	Het
Nup214	C	T	2: 31,900,233 (GRCm39)	T854M	probably damaging	Het
Olfml2b	A	G	1: 170,477,401 (GRCm39)	K179E	probably benign	Het
Or10d1b	A	G	9: 39,613,871 (GRCm39)	S65P	probably damaging	Het
Or4k37	A	T	2: 111,159,229 (GRCm39)	H155L	probably damaging	Het
Pkhd1	A	T	1: 20,187,247 (GRCm39)	I3687N	probably damaging	Het
Slc7a2	A	T	8: 41,369,410 (GRCm39)	S622C	probably damaging	Het
Smarcc2	G	A	10: 128,318,781 (GRCm39)	V719I	probably damaging	Het
Syne2	T	C	12: 75,972,209 (GRCm39)	I1033T	possibly damaging	Het
Tmod1	T	C	4: 46,096,999 (GRCm39)	I264T	probably damaging	Het
Tmtc3	G	A	10: 100,283,581 (GRCm39)	A658V	possibly damaging	Het
Top6bl	T	C	19: 4,748,206 (GRCm39)	E164G	probably benign	Het
Tpm3	A	G	3: 89,981,079 (GRCm39)	E56G	possibly damaging	Het
Tra2b	T	C	16: 22,065,993 (GRCm39)		probably benign	Het
Trmu	T	A	15: 85,779,138 (GRCm39)	Y262N	possibly damaging	Het
Uox	C	T	3: 146,331,590 (GRCm39)	T213I	probably damaging	Het
Vps13d	A	G	4: 144,818,517 (GRCm39)	W2R	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
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
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

2016-08-02