Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Per3'

102102

Institutional Source

Beutler Lab

Gene Symbol

Per3

Ensembl Gene

ENSMUSG00000028957

Gene Name

period circadian clock 3

Synonyms

2810049O06Rik, mPer3

MMRRC Submission

039258-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151088109-151129122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151110595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 401 (E401V)

Ref Sequence

ENSEMBL: ENSMUSP00000099493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103204] [ENSMUST00000136398] [ENSMUST00000169423]

AlphaFold

O70361

PDB Structure

Unwinding the Differences of the Mammalian PERIOD Clock Proteins from Crystal Structure to Cellular Function [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000103204
AA Change: E401V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099493
Gene: ENSMUSG00000028957
AA Change: E401V

Domain	Start	End	E-Value	Type
PAS	115	187	2.86e1	SMART
PAS	258	324	1.31e-5	SMART
PAC	333	376	1.52e-1	SMART
low complexity region	414	427	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC
low complexity region	799	814	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
Pfam:Period_C	905	1111	4.4e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128283

Predicted Effect

probably benign
Transcript: ENSMUST00000136398

SMART Domains

Protein: ENSMUSP00000118950
Gene: ENSMUSG00000028957

Domain	Start	End	E-Value	Type
PAS	115	187	2.86e1	SMART
PAS	258	324	1.31e-5	SMART
PAC	333	376	3.25e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138584

Predicted Effect

probably benign
Transcript: ENSMUST00000169423

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

Domain	Start	End	E-Value	Type
CG-1	67	183	1.39e-91	SMART
low complexity region	550	583	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC
Pfam:TIG	874	954	3.1e-11	PFAM
low complexity region	997	1030	N/A	INTRINSIC
ANK	1066	1095	1.7e2	SMART
ANK	1111	1141	4.73e2	SMART
low complexity region	1301	1319	N/A	INTRINSIC
IQ	1548	1564	2.38e2	SMART
IQ	1578	1600	5.42e0	SMART

Meta Mutation Damage Score

0.1372

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

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 have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit a shorter circadian cycle length. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,497,551 (GRCm39)	R64Q	probably benign	Het
9530068E07Rik	G	A	11: 52,293,905 (GRCm39)	V49I	probably benign	Het
A2m	T	C	6: 121,638,493 (GRCm39)	S902P	probably benign	Het
Aatf	A	T	11: 84,361,375 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,746 (GRCm39)	T1395A	probably benign	Het
Alpk2	T	C	18: 65,427,412 (GRCm39)		probably null	Het
Ank3	G	T	10: 69,703,290 (GRCm39)	A308S	probably damaging	Het
Arap1	A	G	7: 101,053,476 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,050,461 (GRCm39)		probably benign	Het
C4b	T	C	17: 34,955,283 (GRCm39)	D769G	possibly damaging	Het
Cep350	A	G	1: 155,751,122 (GRCm39)	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,711,856 (GRCm39)	I2704F	unknown	Het
Crip2	G	A	12: 113,108,579 (GRCm39)		probably benign	Het
Cyp4f14	T	C	17: 33,135,760 (GRCm39)	I34V	probably benign	Het
Dcstamp	A	G	15: 39,618,025 (GRCm39)		probably null	Het
Ddx5	T	C	11: 106,674,805 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,406,526 (GRCm39)	L572Q	probably damaging	Het
Espl1	G	A	15: 102,212,474 (GRCm39)	A527T	probably benign	Het
Fam83d	A	G	2: 158,627,094 (GRCm39)	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,768,043 (GRCm39)	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,510,368 (GRCm39)		probably benign	Het
Galnt17	G	T	5: 131,140,580 (GRCm39)	T179K	probably damaging	Het
Gm6899	C	T	11: 26,543,685 (GRCm39)		probably benign	Het
Helz2	T	A	2: 180,872,921 (GRCm39)	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,671,920 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326 (GRCm39)	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,296,307 (GRCm39)	I195T	probably benign	Het
Isyna1	C	A	8: 71,047,851 (GRCm39)	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,296,984 (GRCm39)	F75S	probably benign	Het
Ly96	A	G	1: 16,771,118 (GRCm39)	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,769,096 (GRCm39)	T243A	probably damaging	Het
Mcc	A	G	18: 44,892,470 (GRCm39)	V48A	probably benign	Het
Mcpt2	C	T	14: 56,281,402 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,608,583 (GRCm39)		probably benign	Het
Mtbp	G	A	15: 55,428,067 (GRCm39)	G162S	probably null	Het
Mtfr2	G	A	10: 20,228,598 (GRCm39)	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,298,545 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncoa4-ps	A	C	12: 119,225,206 (GRCm39)		noncoding transcript	Het
Nup107	A	C	10: 117,613,051 (GRCm39)	Y292*	probably null	Het
Nwd2	C	T	5: 63,807,367 (GRCm39)		probably benign	Het
Nxpe4	A	C	9: 48,304,692 (GRCm39)	N260H	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or6z7	T	C	7: 6,483,541 (GRCm39)	I205V	probably benign	Het
Or8b42	T	C	9: 38,342,397 (GRCm39)	V273A	possibly damaging	Het
Or8b47	T	C	9: 38,435,453 (GRCm39)	S142P	probably damaging	Het
Or8k37	A	T	2: 86,469,807 (GRCm39)	L82M	probably damaging	Het
P2rx7	T	C	5: 122,808,514 (GRCm39)	Y299H	probably damaging	Het
Rbm34	C	A	8: 127,692,197 (GRCm39)	E182*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Senp2	T	C	16: 21,830,254 (GRCm39)	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,055,057 (GRCm39)		probably null	Het
Spred1	A	T	2: 117,008,178 (GRCm39)	R361S	possibly damaging	Het
Spry2	A	G	14: 106,130,341 (GRCm39)	C282R	probably damaging	Het
Srp54b	T	C	12: 55,302,313 (GRCm39)		probably benign	Het
Taar8c	G	C	10: 23,977,463 (GRCm39)	Y116*	probably null	Het
Tchh	C	G	3: 93,355,353 (GRCm39)	R1598G	unknown	Het
Tex15	A	G	8: 34,061,661 (GRCm39)	M364V	probably benign	Het
Ttbk1	T	C	17: 46,778,057 (GRCm39)	R662G	probably damaging	Het
Ttc5	G	A	14: 51,004,683 (GRCm39)	Q374*	probably null	Het
Usp46	C	T	5: 74,162,783 (GRCm39)	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,535,051 (GRCm39)	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,593,317 (GRCm39)	R122*	probably null	Het
Vmn2r6	T	A	3: 64,472,488 (GRCm39)	M78L	probably benign	Het
Zfp407	A	T	18: 84,227,573 (GRCm39)	I2012N	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het
Zfyve26	G	A	12: 79,310,723 (GRCm39)	L161F	probably damaging	Het

Other mutations in Per3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Per3	APN	4	151,098,055 (GRCm39)	missense	probably benign	0.28
IGL02112:Per3	APN	4	151,113,640 (GRCm39)	missense	probably benign	0.20
IGL02428:Per3	APN	4	151,102,674 (GRCm39)	critical splice donor site	probably null
IGL02812:Per3	APN	4	151,108,927 (GRCm39)	missense	probably damaging	0.99
IGL03094:Per3	APN	4	151,093,755 (GRCm39)	missense	probably damaging	1.00
R0119:Per3	UTSW	4	151,109,005 (GRCm39)	intron	probably benign
R0565:Per3	UTSW	4	151,118,409 (GRCm39)	missense	probably damaging	1.00
R0671:Per3	UTSW	4	151,113,288 (GRCm39)	missense	probably benign	0.27
R1736:Per3	UTSW	4	151,093,705 (GRCm39)	critical splice donor site	probably null
R1757:Per3	UTSW	4	151,127,249 (GRCm39)	critical splice acceptor site	probably null
R1900:Per3	UTSW	4	151,125,883 (GRCm39)	missense	probably damaging	1.00
R1929:Per3	UTSW	4	151,103,342 (GRCm39)	missense	probably damaging	1.00
R2044:Per3	UTSW	4	151,118,395 (GRCm39)	missense	probably benign	0.01
R2272:Per3	UTSW	4	151,103,342 (GRCm39)	missense	probably damaging	1.00
R2415:Per3	UTSW	4	151,097,147 (GRCm39)	missense	possibly damaging	0.91
R4771:Per3	UTSW	4	151,093,716 (GRCm39)	missense	probably damaging	1.00
R5199:Per3	UTSW	4	151,097,352 (GRCm39)	missense	probably benign	0.15
R5298:Per3	UTSW	4	151,113,666 (GRCm39)	missense	probably damaging	1.00
R5330:Per3	UTSW	4	151,125,759 (GRCm39)	missense	probably damaging	1.00
R5331:Per3	UTSW	4	151,125,759 (GRCm39)	missense	probably damaging	1.00
R5920:Per3	UTSW	4	151,096,907 (GRCm39)	missense	probably benign	0.05
R5974:Per3	UTSW	4	151,127,194 (GRCm39)	missense	possibly damaging	0.83
R6498:Per3	UTSW	4	151,113,662 (GRCm39)	missense	probably benign	0.27
R6907:Per3	UTSW	4	151,128,015 (GRCm39)	critical splice donor site	probably null
R6915:Per3	UTSW	4	151,128,106 (GRCm39)	missense	possibly damaging	0.84
R7269:Per3	UTSW	4	151,116,393 (GRCm39)	nonsense	probably null
R7454:Per3	UTSW	4	151,097,185 (GRCm39)	missense	probably benign	0.05
R7555:Per3	UTSW	4	151,102,515 (GRCm39)	nonsense	probably null
R7771:Per3	UTSW	4	151,125,902 (GRCm39)	missense	probably damaging	1.00
R7771:Per3	UTSW	4	151,110,657 (GRCm39)	missense	probably damaging	1.00
R8071:Per3	UTSW	4	151,113,270 (GRCm39)	missense	probably damaging	1.00
R8079:Per3	UTSW	4	151,127,135 (GRCm39)	missense	possibly damaging	0.81
R8099:Per3	UTSW	4	151,097,014 (GRCm39)	missense	possibly damaging	0.92
R9153:Per3	UTSW	4	151,111,796 (GRCm39)	missense	probably benign	0.18
R9449:Per3	UTSW	4	151,094,945 (GRCm39)	missense	probably benign	0.02
R9566:Per3	UTSW	4	151,113,335 (GRCm39)	missense
R9585:Per3	UTSW	4	151,097,138 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AGCGAGCACAGTCACGATGTTCTG -3'
(R):5'- ATTGTTTACATGGCCCCTGGCAG -3'

Sequencing Primer
(F):5'- TTCTGTGCATCTCACCCAGAATAAG -3'
(R):5'- GCAGGCCTTTTAGTCTCCATTTC -3'

Posted On

2014-01-15