Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01350:Per2'

75309

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 #

IGL01350

Quality Score

Status

Chromosome

Chromosomal Location

91343704-91387046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91358583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 602 (E602K)

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: E602K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066620
Gene: ENSMUSG00000055866
AA Change: E602K

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,187,208 (GRCm39)	I926T	probably benign	Het
Adam39	T	A	8: 41,278,876 (GRCm39)	C422*	probably null	Het
Aldh1l1	A	G	6: 90,536,338 (GRCm39)	N81S	probably damaging	Het
Amd1	A	T	10: 40,166,186 (GRCm39)	Y264*	probably null	Het
Axl	T	C	7: 25,458,175 (GRCm39)	Y851C	probably damaging	Het
Ccdc70	T	C	8: 22,463,690 (GRCm39)	L160P	probably damaging	Het
Cd2ap	A	T	17: 43,136,812 (GRCm39)	Y273*	probably null	Het
Cyb5rl	T	C	4: 106,941,409 (GRCm39)	V278A	possibly damaging	Het
Cyp2c29	T	C	19: 39,318,771 (GRCm39)	F417S	probably damaging	Het
Dnah7b	C	A	1: 46,120,592 (GRCm39)		probably benign	Het
Epha4	A	T	1: 77,483,492 (GRCm39)	D172E	probably damaging	Het
Eya4	T	A	10: 22,989,873 (GRCm39)	I495F	possibly damaging	Het
Gpr150	A	T	13: 76,204,542 (GRCm39)	H134Q	probably benign	Het
Gpr153	T	G	4: 152,366,423 (GRCm39)		probably benign	Het
Hipk2	A	G	6: 38,795,250 (GRCm39)	Y333H	probably damaging	Het
Jakmip1	T	C	5: 37,242,775 (GRCm39)	M21T	probably benign	Het
Kcnh3	A	T	15: 99,139,873 (GRCm39)	I920F	probably benign	Het
Lrp2	G	A	2: 69,341,328 (GRCm39)	R951C	probably damaging	Het
Msi1	A	G	5: 115,573,580 (GRCm39)	K126R	possibly damaging	Het
Nkx2-6	T	A	14: 69,412,222 (GRCm39)	F130Y	probably damaging	Het
Onecut2	T	A	18: 64,474,160 (GRCm39)	L218Q	probably damaging	Het
Or12j4	G	T	7: 140,046,292 (GRCm39)	M59I	probably damaging	Het
Or5p6	T	C	7: 107,630,887 (GRCm39)	Y221C	probably damaging	Het
Or8j3	A	G	2: 86,028,149 (GRCm39)	*316Q	probably null	Het
Pah	T	A	10: 87,414,221 (GRCm39)		probably benign	Het
Plb1	C	T	5: 32,474,408 (GRCm39)	T623M	probably damaging	Het
Prkaa2	T	C	4: 104,909,109 (GRCm39)		probably null	Het
Prl7b1	T	A	13: 27,786,804 (GRCm39)	T142S	probably damaging	Het
Psd3	T	C	8: 68,173,544 (GRCm39)	H1090R	probably damaging	Het
Siglecf	G	T	7: 43,005,319 (GRCm39)		probably benign	Het
Tas2r118	A	G	6: 23,969,746 (GRCm39)	V105A	probably damaging	Het
Thnsl1	T	C	2: 21,217,011 (GRCm39)	V255A	probably benign	Het
Tmprss5	T	A	9: 49,020,757 (GRCm39)	*84K	probably null	Het
Trrap	C	T	5: 144,767,779 (GRCm39)	L2579F	possibly damaging	Het
Vdac1	A	G	11: 52,276,489 (GRCm39)	T211A	probably benign	Het
Vmn1r16	A	T	6: 57,299,716 (GRCm39)	V302D	possibly damaging	Het
Wdr75	T	A	1: 45,857,420 (GRCm39)	C572*	probably null	Het
Xpc	A	G	6: 91,476,993 (GRCm39)	S369P	probably benign	Het
Zdhhc20	A	G	14: 58,111,444 (GRCm39)	V52A	probably benign	Het
Zfp977	T	C	7: 42,230,090 (GRCm39)	Y145C	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
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
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

2013-10-07