Mutagenetix > Incidental Mutation

Incidental Mutation 'R0119:Per3'

20968

Institutional Source

Beutler Lab

Gene Symbol

Per3

Ensembl Gene

ENSMUSG00000028957

Gene Name

period circadian clock 3

Synonyms

2810049O06Rik, mPer3

MMRRC Submission

038405-MU

Accession Numbers

Essential gene?

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

Stock #

R0119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151088109-151129122 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 151109005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127916 (fasta)

Gene Model

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

AlphaFold

O70361

Predicted Effect

probably benign
Transcript: ENSMUST00000103204

SMART Domains

Protein: ENSMUSP00000099493
Gene: ENSMUSG00000028957

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

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
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
Abca13	G	A	11: 9,248,076 (GRCm39)	E2608K	probably benign	Het
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adamts18	A	G	8: 114,501,585 (GRCm39)	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,588,015 (GRCm39)	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,559,449 (GRCm39)		probably benign	Het
Arg2	A	G	12: 79,194,386 (GRCm39)	D70G	probably damaging	Het
Cap1	A	T	4: 122,761,492 (GRCm39)	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Caskin2	A	G	11: 115,693,253 (GRCm39)		probably benign	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Cd96	T	C	16: 45,858,942 (GRCm39)		probably benign	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1c	A	T	8: 93,833,345 (GRCm39)		probably benign	Het
Ces1c	A	T	8: 93,834,238 (GRCm39)	L351M	probably benign	Het
Cnih3	T	A	1: 181,282,309 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Cry1	A	G	10: 84,969,104 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Defb13	T	C	8: 22,436,877 (GRCm39)		probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Elmo3	T	C	8: 106,036,400 (GRCm39)	L668S	probably damaging	Het
Elp2	T	C	18: 24,767,466 (GRCm39)	I716T	probably benign	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm6327	T	C	16: 12,579,061 (GRCm39)		noncoding transcript	Het
Gm839	A	T	6: 89,189,362 (GRCm39)		noncoding transcript	Het
Gng5	T	A	3: 146,209,048 (GRCm39)	C39S	probably damaging	Het
Gpr55	C	T	1: 85,869,146 (GRCm39)	W145*	probably null	Het
Hdlbp	A	C	1: 93,349,059 (GRCm39)		probably benign	Het
Man2a2	G	T	7: 80,017,153 (GRCm39)	N305K	probably damaging	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mier3	T	C	13: 111,851,572 (GRCm39)	V490A	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Mug2	T	A	6: 122,013,022 (GRCm39)	H311Q	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nisch	A	G	14: 30,893,881 (GRCm39)	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,360,252 (GRCm39)		probably null	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Pcdh15	T	C	10: 74,006,407 (GRCm39)	F95S	probably damaging	Het
Pcsk6	T	C	7: 65,688,791 (GRCm39)	V820A	probably benign	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,201,924 (GRCm39)	V496E	probably benign	Het
Pip4k2b	A	T	11: 97,613,762 (GRCm39)		probably benign	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Rad21	A	T	15: 51,828,426 (GRCm39)	D547E	probably benign	Het
Rere	T	G	4: 150,699,779 (GRCm39)		probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Sh3bgrl3	A	T	4: 133,855,347 (GRCm39)	I33N	probably damaging	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Sppl3	T	A	5: 115,227,053 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,223,605 (GRCm39)	Q116K	probably damaging	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,921 (GRCm39)	V477A	possibly damaging	Het
Trim7	G	T	11: 48,740,539 (GRCm39)	R212L	probably damaging	Het
Trpm6	T	A	19: 18,809,957 (GRCm39)	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,275,723 (GRCm39)	E361G	probably benign	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	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
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
R1186:Per3	UTSW	4	151,110,595 (GRCm39)	missense	probably damaging	0.99
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'- AACACTGCTACTGTTTCTCGGGTAATC -3'
(R):5'- CGCTTTTCTAAAAGCCGCATACCAAG -3'

Sequencing Primer
(F):5'- GCTGAAAAGCCTCAGCCTTG -3'
(R):5'- GCCGCATACCAAGGATAGATG -3'

Posted On

2013-04-11